Terminology Server Log

#1

GET http://tx.fhir.org/r4/metadata?_summary=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:1521
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:25:39 GMT
server:nginx
x-request-id:47-1898652

{"resourceType" : "CapabilityStatement","id" : "FhirServer","meta" : {"tag" : [{"system" : "http://hl7.org/fhir/v3/ObservationValue","code" : "SUBSETTED","display" : "Subsetted"}]},"url" : "http://tx.fhir.org/r4/metadata","version" : "4.0.1-2.0.14","name" : "FHIR Reference Server Conformance Statement","status" : "active","date" : "2022-10-18T08:15:14.277Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"kind" : "instance","instantiates" : ["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software" : {"name" : "Reference Server","version" : "2.0.14","releaseDate" : "2022-05-13T19:50:55.040Z"},"implementation" : {"description" : "FHIR Server running at http://tx.fhir.org/r4","url" : "http://tx.fhir.org/r4"},"fhirVersion" : "4.0.1","format" : ["application/fhir+xml","application/fhir+json"],"rest" : [{"mode" : "server","security" : {"cors" : true},"operation" : [{"name" : "expand","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name" : "lookup","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-lookup"},{"name" : "validate-code","definition" : "http://hl7.org/fhir/OperationDefinition/Resource-validate"},{"name" : "translate","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"},{"name" : "closure","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-closure"},{"name" : "versions","definition" : "http://tx.fhir.org/r4/OperationDefinition/fso-versions"}]}]}

#2

GET http://tx.fhir.org/r4/metadata?mode=terminology HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:73624
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:25:39 GMT
server:nginx
x-request-id:47-1898653

{"resourceType" : "TerminologyCapabilities","id" : "FhirServer","url" : "http://tx.fhir.org/r4/metadata","version" : "1.0.0","name" : "FHIR Reference Server Teminology Capability Statement","status" : "active","date" : "2022-10-14T14:24:47.232Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"description" : "Standard Teminology Capability Statement for the open source Reference FHIR Server provided by Health Intersections","codeSystem" : [{"uri" : "http://cds-hooks.hl7.org/CodeSystem/indicator"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-concept-status"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-designation-use"},{"uri" : "http://dicom.nema.org/resources/ontology/DCM"},{"uri" : "http://fdasis.nlm.nih.gov"},{"uri" : "http://healthit.gov/nhin/purposeofuse"},{"uri" : "http://hl7.org/fhir/abstract-types"},{"uri" : "http://hl7.org/fhir/account-status"},{"uri" : "http://hl7.org/fhir/action-cardinality-behavior"},{"uri" : "http://hl7.org/fhir/action-condition-kind"},{"uri" : "http://hl7.org/fhir/action-grouping-behavior"},{"uri" : "http://hl7.org/fhir/action-participant-type"},{"uri" : "http://hl7.org/fhir/action-precheck-behavior"},{"uri" : "http://hl7.org/fhir/action-relationship-type"},{"uri" : "http://hl7.org/fhir/action-required-behavior"},{"uri" : "http://hl7.org/fhir/action-selection-behavior"},{"uri" : "http://hl7.org/fhir/additionalmaterials"},{"uri" : "http://hl7.org/fhir/address-type"},{"uri" : "http://hl7.org/fhir/address-use"},{"uri" : "http://hl7.org/fhir/administrative-gender"},{"uri" : "http://hl7.org/fhir/adverse-event-actuality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-category"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-criticality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-type"},{"uri" : "http://hl7.org/fhir/animal-genderstatus"},{"uri" : "http://hl7.org/fhir/animal-species"},{"uri" : "http://hl7.org/fhir/appointmentstatus"},{"uri" : "http://hl7.org/fhir/assert-direction-codes"},{"uri" : "http://hl7.org/fhir/assert-operator-codes"},{"uri" : "http://hl7.org/fhir/assert-response-code-types"},{"uri" : "http://hl7.org/fhir/asset-availability"},{"uri" : "http://hl7.org/fhir/audit-event-action"},{"uri" : "http://hl7.org/fhir/audit-event-outcome"},{"uri" : "http://hl7.org/fhir/binding-strength"},{"uri" : "http://hl7.org/fhir/bundle-type"},{"uri" : "http://hl7.org/fhir/capability-statement-kind"},{"uri" : "http://hl7.org/fhir/care-plan-activity-status"},{"uri" : "http://hl7.org/fhir/care-team-status"},{"uri" : "http://hl7.org/fhir/chargeitem-status"},{"uri" : "http://hl7.org/fhir/claim-use"},{"uri" : "http://hl7.org/fhir/code-search-support"},{"uri" : "http://hl7.org/fhir/CodeSystem/example"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-intent"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-statement-status"},{"uri" : 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"http://hl7.org/fhir/consent-provision-type"},{"uri" : "http://hl7.org/fhir/consent-state-codes"},{"uri" : "http://hl7.org/fhir/constraint-severity"},{"uri" : "http://hl7.org/fhir/contact-point-system"},{"uri" : "http://hl7.org/fhir/contact-point-use"},{"uri" : "http://hl7.org/fhir/contract-action-status"},{"uri" : "http://hl7.org/fhir/contract-asset-context"},{"uri" : "http://hl7.org/fhir/contract-asset-scope"},{"uri" : "http://hl7.org/fhir/contract-asset-subtype"},{"uri" : "http://hl7.org/fhir/contract-asset-type"},{"uri" : "http://hl7.org/fhir/contract-decision-mode"},{"uri" : "http://hl7.org/fhir/contract-definition-subtype"},{"uri" : "http://hl7.org/fhir/contract-definition-type"},{"uri" : "http://hl7.org/fhir/contract-expiration-type"},{"uri" : "http://hl7.org/fhir/contract-legalstate"},{"uri" : "http://hl7.org/fhir/contract-party-role"},{"uri" : "http://hl7.org/fhir/contract-publicationstatus"},{"uri" : "http://hl7.org/fhir/contract-scope"},{"uri" : 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"http://terminology.hl7.org/CodeSystem/activity-definition-category"},{"uri" : "http://terminology.hl7.org/CodeSystem/adjudication"},{"uri" : "http://terminology.hl7.org/CodeSystem/adjudication-error"},{"uri" : "http://terminology.hl7.org/CodeSystem/adjudication-reason"},{"uri" : "http://terminology.hl7.org/CodeSystem/admit-source"},{"uri" : "http://terminology.hl7.org/CodeSystem/adverse-event-category"},{"uri" : "http://terminology.hl7.org/CodeSystem/adverse-event-causality-assess"},{"uri" : "http://terminology.hl7.org/CodeSystem/adverse-event-causality-method"},{"uri" : "http://terminology.hl7.org/CodeSystem/adverse-event-outcome"},{"uri" : "http://terminology.hl7.org/CodeSystem/adverse-event-seriousness"},{"uri" : "http://terminology.hl7.org/CodeSystem/adverse-event-severity"},{"uri" : "http://terminology.hl7.org/CodeSystem/allerg-intol-substance-exp-risk"},{"uri" : "http://terminology.hl7.org/CodeSystem/allergyintolerance-clinical"},{"uri" : 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server:nginx
x-request-id:47-1898672

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"},"diagnostics" : "(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(0000000000EDAEDE){FHIRServer.exe} [00000000012DBEDE] Unknown function at TMethodImplementationIntercept + $E34BDE\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#4

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:285
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:04 GMT
last-modified:Mon, 31 Oct 2022 21:26:03 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898673

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "kg/m2"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#5

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:3656
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:04 GMT
server:nginx
x-request-id:47-1898675

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"},"diagnostics" : "(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(0000000000EDAEDE){FHIRServer.exe} [00000000012DBEDE] Unknown function at TMethodImplementationIntercept + $E34BDE\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#6

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:466
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:04 GMT
last-modified:Mon, 31 Oct 2022 21:26:04 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898676

{"resourceType" : "ValueSet","language" : "en","status" : "active","expansion" : {"identifier" : "urn:uuid:9986f1e9-602f-4b41-a183-229a33580184","timestamp" : "2022-10-31T21:26:04.561Z","parameter" : [{"name" : "limitedExpansion","valueBoolean" : true},{"name" : "excludeNested","valueBoolean" : true},{"name" : "version","valueUri" : "http://loinc.org|2.73"}],"contains" : [{"system" : "http://loinc.org","code" : "LP35925-4","display" : "Body mass index (BMI)"}]}}

#7

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"hpo","url":"http://purl.obolibrary.org/obo/hp.owl","version":"0.2.0","name":"HPO","title":"Human Phenotype Ontology","status":"draft","experimental":false,"date":"2022-10-31T21:26:01+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org","valueSet":"http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes","hierarchyMeaning":"is-a","compositional":false,"versionNeeded":false,"content":"fragment","count":1880,"filter":[{"code":"root","operator":["="],"value":"True or false."},{"code":"deprecated","operator":["="],"value":"True or false."},{"code":"imported","operator":["="],"value":"True or false"}],"property":[{"code":"parent","description":"Parent codes.","type":"code"},{"code":"imported","description":"Indicates if the concept is imported from another code system.","type":"boolean"},{"code":"root","description":"Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)","type":"boolean"},{"code":"deprecated","description":"Indicates if this concept is deprecated.","type":"boolean"}],"concept":[{"code":"HP:0000365","display":"Hearing impairment"},{"code":"HP:0002564","display":"obsolete Malformation of the heart and great vessels"},{"code":"HP:0001028","display":"Hemangioma"},{"code":"HP:0000476","display":"Cystic hygroma"},{"code":"HP:0000568","display":"Microphthalmia"},{"code":"HP:0000518","display":"Cataract"},{"code":"HP:0000612","display":"Iris coloboma"},{"code":"HP:0000567","display":"Chorioretinal coloboma"},{"code":"HP:0000316","display":"Hypertelorism"},{"code":"HP:0000482","display":"Microcornea"},{"code":"HP:0000588","display":"Optic nerve coloboma"},{"code":"HP:0004426","display":"Abnormality of the cheek"},{"code":"HP:0009125","display":"Lipodystrophy"},{"code":"HP:0002023","display":"Anal atresia"},{"code":"HP:0003468","display":"Abnormal vertebral morphology"},{"code":"HP:0000545","display":"Myopia"},{"code":"HP:0000122","display":"Unilateral renal agenesis"},{"code":"HP:0002143","display":"Abnormality of the spinal cord"},{"code":"HP:0003508","display":"Proportionate short stature"},{"code":"HP:0000271","display":"Abnormality of the face"},{"code":"HP:0000637","display":"Long palpebral fissure"},{"code":"HP:0000492","display":"Abnormal eyelid morphology"},{"code":"HP:0000389","display":"Chronic otitis media"},{"code":"HP:0000400","display":"Macrotia"},{"code":"HP:0000405","display":"Conductive hearing impairment"},{"code":"HP:0012712","display":"Mild hearing impairment"},{"code":"HP:0005280","display":"Depressed nasal bridge"},{"code":"HP:0000431","display":"Wide nasal bridge"},{"code":"HP:0000319","display":"Smooth philtrum"},{"code":"HP:0000175","display":"Cleft palate"},{"code":"HP:0001611","display":"Nasal speech"},{"code":"HP:0002099","display":"Asthma"},{"code":"HP:0001397","display":"Hepatic steatosis"},{"code":"HP:0001081","display":"Cholelithiasis"},{"code":"HP:0002650","display":"Scoliosis"},{"code":"HP:0001212","display":"Prominent fingertip pads"},{"code":"HP:0001328","display":"Specific learning disability"},{"code":"HP:0000824","display":"Growth hormone deficiency"},{"code":"HP:0002607","display":"Bowel incontinence"},{"code":"HP:0100731","display":"Transverse facial cleft"},{"code":"HP:0000528","display":"Anophthalmia"},{"code":"HP:0000601","display":"Hypotelorism"},{"code":"HP:0000369","display":"Low-set ears"},{"code":"HP:0001274","display":"Agenesis of corpus callosum"},{"code":"HP:0002084","display":"Encephalocele"},{"code":"HP:0007033","display":"Cerebellar dysplasia"},{"code":"HP:0100336","display":"Bilateral cleft lip"},{"code":"HP:0100337","display":"Bilateral cleft palate"},{"code":"HP:0001511","display":"Intrauterine growth retardation"},{"code":"HP:0011451","display":"Congenital microcephaly"},{"code":"HP:0000324","display":"Facial asymmetry"},{"code":"HP:0000581","display":"Blepharophimosis"},{"code":"HP:0000508","display":"Ptosis"},{"code":"HP:0008551","display":"Microtia"},{"code":"HP:0001631","display":"Atrial septal defect"},{"code":"HP:0000085","display":"Horseshoe kidney"},{"code":"HP:0011927","display":"Short digit"},{"code":"HP:0001156","display":"Brachydactyly"},{"code":"HP:0002066","display":"Gait ataxia"},{"code":"HP:0001250","display":"Seizure"},{"code":"HP:0001263","display":"Global developmental delay"},{"code":"HP:0001562","display":"Oligohydramnios"},{"code":"HP:0001195","display":"Single umbilical artery"},{"code":"HP:0006349","display":"Agenesis of permanent teeth"},{"code":"HP:0000668","display":"Hypodontia"},{"code":"HP:0000677","display":"Oligodontia"},{"code":"HP:0001252","display":"Muscular hypotonia"},{"code":"HP:0003429","display":"CNS hypomyelination"},{"code":"HP:0010864","display":"Intellectual disability, severe"},{"code":"HP:0004325","display":"Decreased body weight"},{"code":"HP:0000666","display":"Horizontal nystagmus"},{"code":"HP:0000218","display":"High palate"},{"code":"HP:0010809","display":"Broad uvula"},{"code":"HP:0000767","display":"Pectus excavatum"},{"code":"HP:0003691","display":"Scapular winging"},{"code":"HP:0002616","display":"Aortic root aneurysm"},{"code":"HP:0001601","display":"Laryngomalacia"},{"code":"HP:0002021","display":"Pyloric stenosis"},{"code":"HP:0001388","display":"Joint laxity"},{"code":"HP:0001187","display":"Hyperextensibility of the finger joints"},{"code":"HP:0000741","display":"Apathy"},{"code":"HP:0000817","display":"Poor eye contact"},{"code":"HP:0000821","display":"Hypothyroidism"},{"code":"HP:0000002","display":"Abnormality of body height"},{"code":"HP:0000079","display":"Abnormality of the urinary system"},{"code":"HP:0000164","display":"Abnormality of the dentition"},{"code":"HP:0000364","display":"Hearing abnormality"},{"code":"HP:0000366","display":"Abnormality of the nose"},{"code":"HP:0000464","display":"Abnormality of the neck"},{"code":"HP:0000707","display":"Abnormality of the nervous system"},{"code":"HP:0000708","display":"Behavioral abnormality"},{"code":"HP:0000769","display":"Abnormality of the breast"},{"code":"HP:0000772","display":"Abnormality of the ribs"},{"code":"HP:0000775","display":"Abnormality of the diaphragm"},{"code":"HP:0000889","display":"Abnormality of the clavicle"},{"code":"HP:0000925","display":"Abnormality of the vertebral column"},{"code":"HP:0001080","display":"Biliary tract abnormality"},{"code":"HP:0001392","display":"Abnormality of the liver"},{"code":"HP:0001438","display":"Abnormal abdomen morphology"},{"code":"HP:0001608","display":"Abnormality of the voice"},{"code":"HP:0001627","display":"Abnormal heart morphology"},{"code":"HP:0001732","display":"Abnormality of the pancreas"},{"code":"HP:0001739","display":"Abnormality of the nasopharynx"},{"code":"HP:0001743","display":"Abnormality of the spleen"},{"code":"HP:0001760","display":"Abnormal foot morphology"},{"code":"HP:0001871","display":"Abnormality of blood and blood-forming tissues"},{"code":"HP:0002031","display":"Abnormal esophagus morphology"},{"code":"HP:0002244","display":"Abnormality of the small intestine"},{"code":"HP:0002246","display":"Abnormality of the duodenum"},{"code":"HP:0002250","display":"Abnormal large intestine morphology"},{"code":"HP:0002644","display":"Abnormality of pelvic girdle bone morphology"},{"code":"HP:0002664","display":"Neoplasm"},{"code":"HP:0002715","display":"Abnormality of the immune system"},{"code":"HP:0002814","display":"Abnormality of the lower limb"},{"code":"HP:0002817","display":"Abnormality of the upper limb"},{"code":"HP:0005483","display":"Abnormal epiglottis morphology"},{"code":"HP:0008777","display":"Abnormal vocal cord morphology"},{"code":"HP:0011844","display":"Abnormal appendicular skeleton morphology"},{"code":"HP:0012732","display":"Anorectal anomaly"},{"code":"HP:0001508","display":"Failure to thrive"},{"code":"HP:0002902","display":"Hyponatremia"},{"code":"HP:0012236","display":"Elevated sweat chloride"},{"code":"HP:0000347","display":"Micrognathia"},{"code":"HP:0000926","display":"Platyspondyly"},{"code":"HP:0001371","display":"Flexion contracture"},{"code":"HP:0001875","display":"Neutropenia"},{"code":"HP:0001888","display":"Lymphopenia"},{"code":"HP:0002857","display":"Genu valgum"},{"code":"HP:0002986","display":"Radial bowing"},{"code":"HP:0003015","display":"Flared metaphysis"},{"code":"HP:0003025","display":"Metaphyseal irregularity"},{"code":"HP:0003097","display":"Short femur"},{"code":"HP:0003300","display":"Ovoid vertebral bodies"},{"code":"HP:0003307","display":"Hyperlordosis"},{"code":"HP:0004209","display":"Clinodactyly of the 5th finger"},{"code":"HP:0004322","display":"Short stature"},{"code":"HP:0005792","display":"Short humerus"},{"code":"HP:0006248","display":"Limited wrist movement"},{"code":"HP:0000944","display":"Abnormality of the metaphysis"},{"code":"HP:0011921","display":"Exudative pleural effusion"},{"code":"HP:0003043","display":"Abnormality of the shoulder"},{"code":"HP:0000290","display":"Abnormality of the forehead"},{"code":"HP:0005288","display":"Abnormality of the nares"},{"code":"HP:0000234","display":"Abnormality of the head"},{"code":"HP:0004323","display":"Abnormality of body weight"},{"code":"HP:0000483","display":"Astigmatism"},{"code":"HP:0011003","display":"High myopia"},{"code":"HP:0000470","display":"Short neck"},{"code":"HP:0030044","display":"Flexion contracture of digit"},{"code":"HP:0100871","display":"Abnormality of the palm"},{"code":"HP:0004334","display":"Dermal atrophy"},{"code":"HP:0001845","display":"Overlapping toe"},{"code":"HP:0000496","display":"Abnormality of eye movement"},{"code":"HP:0001780","display":"Abnormality of toe"},{"code":"HP:0001626","display":"Abnormality of the cardiovascular system"},{"code":"HP:0002086","display":"Abnormality of the respiratory system"},{"code":"HP:0000818","display":"Abnormality of the endocrine system"},{"code":"HP:0012372","display":"Abnormal eye morphology"},{"code":"HP:0009473","display":"Joint contracture of the hand"},{"code":"HP:0003199","display":"Decreased muscle mass"},{"code":"HP:0003202","display":"Skeletal muscle atrophy"},{"code":"HP:0003551","display":"Difficulty climbing stairs"},{"code":"HP:0002355","display":"Difficulty walking"},{"code":"HP:0003546","display":"Exercise intolerance"},{"code":"HP:0003325","display":"Limb-girdle muscle weakness"},{"code":"HP:0003701","display":"Proximal muscle weakness"},{"code":"HP:0003547","display":"Shoulder girdle muscle weakness"},{"code":"HP:0007340","display":"Lower limb muscle weakness"},{"code":"HP:0002168","display":"Scanning speech"},{"code":"HP:0001265","display":"Hyporeflexia"},{"code":"HP:0001284","display":"Areflexia"},{"code":"HP:0003477","display":"Peripheral axonal neuropathy"},{"code":"HP:0000924","display":"Abnormality of the skeletal system"},{"code":"HP:0001291","display":"Abnormal cranial nerve morphology"},{"code":"HP:0003687","display":"Centrally nucleated skeletal muscle fibers"},{"code":"HP:0001324","display":"Muscle weakness"},{"code":"HP:0002515","display":"Waddling gait"},{"code":"HP:0100280","display":"Crohn's disease"},{"code":"HP:0002631","display":"obsolete Dilatation of ascending aorta"},{"code":"HP:0100026","display":"Arteriovenous malformation"},{"code":"HP:0002637","display":"Cerebral ischemia"},{"code":"HP:0002619","display":"Varicose veins"},{"code":"HP:0001159","display":"Syndactyly"},{"code":"HP:0002069","display":"Bilateral tonic-clonic seizure"},{"code":"HP:0000977","display":"Soft skin"},{"code":"HP:0010648","display":"Dermal translucency"},{"code":"HP:0000978","display":"Bruising susceptibility"},{"code":"HP:0001956","display":"Truncal obesity"},{"code":"HP:0000189","display":"Narrow palate"},{"code":"HP:0000678","display":"Dental crowding"},{"code":"HP:0002870","display":"Obstructive sleep apnea"},{"code":"HP:0001763","display":"Pes planus"},{"code":"HP:0000782","display":"Abnormality of the 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content-length:3778
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:06 GMT
server:nginx
x-request-id:47-1898681

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>The code system definition for http://purl.obolibrary.org/obo/mondo.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\"</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "The code system definition for http://purl.obolibrary.org/obo/mondo.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\""},"diagnostics" : "(0000000000EDB261){FHIRServer.exe} [00000000012DC261] Unknown function at TMethodImplementationIntercept + $E34F61\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000EDB261){FHIRServer.exe} [00000000012DC261] Unknown function at TMethodImplementationIntercept + $E34F61\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#9

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:06 GMT
last-modified:Mon, 31 Oct 2022 21:26:06 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898683

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "uL"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#10

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"TR"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:07 GMT
last-modified:Mon, 31 Oct 2022 21:26:07 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898685

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "TR"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "TR"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#11

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://example.org/my-dataset/fhir/codesystem/research-encounter-class","code":"survey"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:481
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:07 GMT
last-modified:Mon, 31 Oct 2022 21:26:07 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898686

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "The code system 'http://example.org/my-dataset/fhir/codesystem/research-encounter-class' is not known (encountered paired with code = 'survey'); The code provided (http://example.org/my-dataset/fhir/codesystem/research-encounter-class#survey) is not valid in the value set 'All codes known to the system'"},{"name" : "cause","valueString" : "not-found"}]}

#12

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/jurisdiction--2","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:259
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:08 GMT
last-modified:Mon, 31 Oct 2022 21:26:08 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898687

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "World"},{"name" : "system","valueString" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueString" : "001"},{"name" : "result","valueBoolean" : true}]}

#13

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"jurisdiction","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"vocab"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"normative"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":5},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-normative-version","valueCode":"4.0.0"}],"url":"http://hl7.org/fhir/ValueSet/jurisdiction","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.48"}],"version":"4.0.1","name":"Jurisdiction ValueSet","title":"Jurisdiction","status":"active","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set defines a base set of codes for country, country subdivision and region    for indicating where a resource is intended to be used.   \r\n   \r\n   Note: The codes for countries and country subdivisions are taken from    [ISO 3166](https://www.iso.org/iso-3166-country-codes.html)    while the codes for \"supra-national\" regions are from    [UN Standard country or area codes for statistical use (M49)](http://unstats.un.org/unsd/methods/m49/m49.htm).","compose":{"include":[{"system":"urn:iso:std:iso:3166"},{"system":"urn:iso:std:iso:3166:-2"},{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:259
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:08 GMT
last-modified:Mon, 31 Oct 2022 21:26:08 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898688

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "World"},{"name" : "system","valueString" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueString" : "001"},{"name" : "result","valueBoolean" : true}]}

#14

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:259
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:08 GMT
server:nginx
x-request-id:47-1898690

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "World"},{"name" : "system","valueString" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueString" : "001"},{"name" : "result","valueBoolean" : true}]}

#15

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"https://uts.nlm.nih.gov/uts/umls","code":"C99269"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:405
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:09 GMT
last-modified:Mon, 31 Oct 2022 21:26:09 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898692

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "The code system 'https://uts.nlm.nih.gov/uts/umls' is not known (encountered paired with code = 'C99269'); The code provided (https://uts.nlm.nih.gov/uts/umls#C99269) is not valid in the value set 'All codes known to the system'"},{"name" : "cause","valueString" : "not-found"}]}

#16

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:295
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:10 GMT
last-modified:Mon, 31 Oct 2022 21:26:10 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898693

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Body mass index (BMI)"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "LP35925-4"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#17

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"44807982","display":"Participant in research study"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:486
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:10 GMT
last-modified:Mon, 31 Oct 2022 21:26:10 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898694

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "Unable to find code 44807982 in http://snomed.info/sct (version http://snomed.info/sct/900000000000207008/version/20220731); The code \"44807982\" is not valid in the system http://snomed.info/sct; The code provided (http://snomed.info/sct#44807982) is not valid in the value set 'All codes known to the system'"},{"name" : "cause","valueString" : "invalid"}]}

#18

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"code":"diagnostic"}]}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"research-study-prim-purp-type","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"brr"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":1}],"url":"http://hl7.org/fhir/ValueSet/research-study-prim-purp-type","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.827"}],"version":"4.0.1","name":"ResearchStudyPrimaryPurposeType","title":"ResearchStudyPrimaryPurposeType","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"HL7 (FHIR Project)","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"},{"system":"email","value":"fhir@lists.hl7.org"}]}],"description":"Codes for the main intent of the study.","immutable":true,"compose":{"include":[{"system":"http://terminology.hl7.org/CodeSystem/research-study-prim-purp-type"}]}}},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"research-study-prim-purp-type","meta":{"lastUpdated":"2020-04-09T21:10:28.568+00:00"},"text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://terminology.hl7.org/CodeSystem/research-study-prim-purp-type</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">treatment<a name=\"research-study-prim-purp-type-treatment\"> </a></td><td>Treatment</td><td>One or more interventions are being evaluated for treating a disease, syndrome, or condition.</td></tr><tr><td style=\"white-space:nowrap\">prevention<a name=\"research-study-prim-purp-type-prevention\"> </a></td><td>Prevention</td><td>One or more interventions are being assessed for preventing the development of a specific disease or health condition.</td></tr><tr><td style=\"white-space:nowrap\">diagnostic<a name=\"research-study-prim-purp-type-diagnostic\"> </a></td><td>Diagnostic</td><td>One or more interventions are being evaluated for identifying a disease or health condition.</td></tr><tr><td style=\"white-space:nowrap\">supportive-care<a name=\"research-study-prim-purp-type-supportive-care\"> </a></td><td>Supportive Care</td><td>One or more interventions are evaluated for maximizing comfort, minimizing side effects, or mitigating against a decline in the participant's health or function.</td></tr><tr><td style=\"white-space:nowrap\">screening<a name=\"research-study-prim-purp-type-screening\"> </a></td><td>Screening</td><td>One or more interventions are assessed or examined for identifying a condition, or risk factors for a condition, in people who are not yet known to have the condition or risk factor.</td></tr><tr><td style=\"white-space:nowrap\">health-services-research<a name=\"research-study-prim-purp-type-health-services-research\"> </a></td><td>Health Services Research</td><td>One or more interventions for evaluating the delivery, processes, management, organization, or financing of healthcare.</td></tr><tr><td style=\"white-space:nowrap\">basic-science<a name=\"research-study-prim-purp-type-basic-science\"> </a></td><td>Basic Science</td><td>One or more interventions for examining the basic mechanism of action (for example, physiology or biomechanics of an intervention).</td></tr><tr><td style=\"white-space:nowrap\">device-feasibility<a name=\"research-study-prim-purp-type-device-feasibility\"> </a></td><td>Device Feasibility</td><td>An intervention of a device product is being evaluated to determine the feasibility of the product or to test a prototype device and not health outcomes. 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200
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date:Mon, 31 Oct 2022 21:26:13 GMT
last-modified:Mon, 31 Oct 2022 21:26:12 GMT
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server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898696

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "The code system '' is not known (encountered paired with code = 'diagnostic'); The code provided (#diagnostic) is not valid in the value set 'ResearchStudyPrimaryPurposeType'"},{"name" : "cause","valueString" : "not-found"}]}

#19

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69548-6","display":"Genetic variant assessment"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:13 GMT
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x-request-id:47-1898697

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Genetic variant assessment"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "69548-6"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#20

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA9633-4","display":"Present"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:13 GMT
last-modified:Mon, 31 Oct 2022 21:26:13 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898698

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Present"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "LA9633-4"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#21

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA26398-0","display":"Sequencing"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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date:Mon, 31 Oct 2022 21:26:13 GMT
last-modified:Mon, 31 Oct 2022 21:26:13 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898699

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Sequencing"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "LA26398-0"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#22

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48018-6","display":"Gene studied ID"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:13 GMT
last-modified:Mon, 31 Oct 2022 21:26:13 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898700

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Gene studied [ID]"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "48018-6"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#23

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48001-2","display":"Cytogenetic (chromosome) location"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:13 GMT
last-modified:Mon, 31 Oct 2022 21:26:13 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898701

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Cytogenetic (chromosome) location"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "48001-2"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#24

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69547-8","display":"Genomic ref allele [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:14 GMT
last-modified:Mon, 31 Oct 2022 21:26:14 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898702

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Genomic ref allele [ID]"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "69547-8"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#25

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69551-0","display":"Genomic alt allele [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:14 GMT
last-modified:Mon, 31 Oct 2022 21:26:14 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898704

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Genomic alt allele [ID]"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "69551-0"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#26

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53034-5","display":"Allelic state"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:14 GMT
server:nginx
x-request-id:47-1898705

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Allelic state"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "53034-5"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#27

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6706-1","display":"Heterozygous"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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date:Mon, 31 Oct 2022 21:26:14 GMT
last-modified:Mon, 31 Oct 2022 21:26:14 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898706

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Heterozygous"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "LA6706-1"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#28

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"62374-4","display":"Human reference sequence assembly version"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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date:Mon, 31 Oct 2022 21:26:14 GMT
server:nginx
x-request-id:47-1898707

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Human reference sequence assembly version"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "62374-4"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#29

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA14029-5","display":"GRCh37"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

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date:Mon, 31 Oct 2022 21:26:15 GMT
last-modified:Mon, 31 Oct 2022 21:26:15 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898708

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "GRCh37"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "LA14029-5"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#30

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"51958-7","display":"Transcript reference sequence [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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date:Mon, 31 Oct 2022 21:26:15 GMT
server:nginx
x-request-id:47-1898709

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Transcript reference sequence [ID]"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "51958-7"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#31

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48004-6","display":"DNA change (c.HGVS)"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:291
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:15 GMT
last-modified:Mon, 31 Oct 2022 21:26:15 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898710

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "DNA change (c.HGVS)"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "48004-6"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#32

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://varnomen.hgvs.org","code":"c.1640A>G","display":"c.1640A>G"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:15 GMT
server:nginx
x-request-id:47-1898711

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "c.1640A>G"},{"name" : "system","valueString" : "http://varnomen.hgvs.org"},{"name" : "code","valueString" : "c.1640A>G"},{"name" : "version","valueString" : "2.0"},{"name" : "result","valueBoolean" : true}]}

#33

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"code":"diagnostic"}]}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://hl7.org/fhir/ValueSet/research-study-prim-purp-type|4.0.1"},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"research-study-prim-purp-type","meta":{"lastUpdated":"2020-04-09T21:10:28.568+00:00"},"text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://terminology.hl7.org/CodeSystem/research-study-prim-purp-type</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">treatment<a name=\"research-study-prim-purp-type-treatment\"> </a></td><td>Treatment</td><td>One or more interventions are being evaluated for treating a disease, syndrome, or condition.</td></tr><tr><td style=\"white-space:nowrap\">prevention<a name=\"research-study-prim-purp-type-prevention\"> </a></td><td>Prevention</td><td>One or more interventions are being assessed for preventing the development of a specific disease or health condition.</td></tr><tr><td style=\"white-space:nowrap\">diagnostic<a name=\"research-study-prim-purp-type-diagnostic\"> </a></td><td>Diagnostic</td><td>One or more interventions are being evaluated for identifying a disease or health condition.</td></tr><tr><td style=\"white-space:nowrap\">supportive-care<a name=\"research-study-prim-purp-type-supportive-care\"> </a></td><td>Supportive Care</td><td>One or more interventions are evaluated for maximizing comfort, minimizing side effects, or mitigating against a decline in the participant's health or function.</td></tr><tr><td style=\"white-space:nowrap\">screening<a name=\"research-study-prim-purp-type-screening\"> </a></td><td>Screening</td><td>One or more interventions are assessed or examined for identifying a condition, or risk factors for a condition, in people who are not yet known to have the condition or risk factor.</td></tr><tr><td style=\"white-space:nowrap\">health-services-research<a name=\"research-study-prim-purp-type-health-services-research\"> </a></td><td>Health Services Research</td><td>One or more interventions for evaluating the delivery, processes, management, organization, or financing of healthcare.</td></tr><tr><td style=\"white-space:nowrap\">basic-science<a name=\"research-study-prim-purp-type-basic-science\"> </a></td><td>Basic Science</td><td>One or more interventions for examining the basic mechanism of action (for example, physiology or biomechanics of an intervention).</td></tr><tr><td style=\"white-space:nowrap\">device-feasibility<a name=\"research-study-prim-purp-type-device-feasibility\"> </a></td><td>Device Feasibility</td><td>An intervention of a device product is being evaluated to determine the feasibility of the product or to test a prototype device and not health outcomes. Such studies are conducted to confirm the design and operating specifications of a device before beginning a full clinical trial.</td></tr></table></div>"},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"brr"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":0}],"url":"http://terminology.hl7.org/CodeSystem/research-study-prim-purp-type","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.1.1250"}],"version":"0.1.0","name":"ResearchStudyPrimaryPurposeType","title":"ResearchStudyPrimaryPurposeType","status":"draft","experimental":false,"date":"2020-04-09T21:10:28+00:00","publisher":"HL7 (FHIR Project)","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"},{"system":"email","value":"fhir@lists.hl7.org"}]}],"description":"Codes for the main intent of the study.","caseSensitive":true,"valueSet":"http://terminology.hl7.org/ValueSet/research-study-prim-purp-type","content":"complete","concept":[{"code":"treatment","display":"Treatment","definition":"One or more interventions are being evaluated for treating a disease, syndrome, or condition."},{"code":"prevention","display":"Prevention","definition":"One or more interventions are being assessed for preventing the development of a specific disease or health condition."},{"code":"diagnostic","display":"Diagnostic","definition":"One or more interventions are being evaluated for identifying a disease or health condition."},{"code":"supportive-care","display":"Supportive Care","definition":"One or more interventions are evaluated for maximizing comfort, minimizing side effects, or mitigating against a decline in the participant's health or function."},{"code":"screening","display":"Screening","definition":"One or more interventions are assessed or examined for identifying a condition, or risk factors for a condition, in people who are not yet known to have the condition or risk factor."},{"code":"health-services-research","display":"Health Services Research","definition":"One or more interventions for evaluating the delivery, processes, management, organization, or financing of healthcare."},{"code":"basic-science","display":"Basic Science","definition":"One or more interventions for examining the basic mechanism of action (for example, physiology or biomechanics of an intervention)."},{"code":"device-feasibility","display":"Device Feasibility","definition":"An intervention of a device product is being evaluated to determine the feasibility of the product or to test a prototype device and not health outcomes. Such studies are conducted to confirm the design and operating specifications of a device before beginning a full clinical trial."}]}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:351
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:15 GMT
last-modified:Mon, 31 Oct 2022 21:26:15 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898712

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "The code system '' is not known (encountered paired with code = 'diagnostic'); The code provided (#diagnostic) is not valid in the value set 'ResearchStudyPrimaryPurposeType'"},{"name" : "cause","valueString" : "not-found"}]}

#34

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/ucum-units--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:240
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:16 GMT
last-modified:Mon, 31 Oct 2022 21:26:15 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898713

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "kg/m2"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "kg/m2"},{"name" : "result","valueBoolean" : true}]}

#35

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"ucum-units","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"fhir"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":0}],"url":"http://hl7.org/fhir/ValueSet/ucum-units","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.912"}],"version":"4.0.1","name":"UCUMCodes","title":"UCUM Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"Unified Code for Units of Measure (UCUM). This value set includes all UCUM codes","copyright":"The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright © 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved.","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:285
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:16 GMT
last-modified:Mon, 31 Oct 2022 21:26:16 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898714

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "kg/m2"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#36

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:285
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:16 GMT
server:nginx
x-request-id:47-1898716

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "kg/m2"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#37

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:16 GMT
last-modified:Mon, 31 Oct 2022 21:26:16 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898717

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "uL"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#38

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"129314006","display":"Biopsy - action"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:349
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:16 GMT
server:nginx
x-request-id:47-1898718

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Biopsy - action"},{"name" : "system","valueString" : "http://snomed.info/sct"},{"name" : "code","valueString" : "129314006"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20220731"},{"name" : "result","valueBoolean" : true}]}

#39

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"21483005","display":"Structure of central nervous system"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:355
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:16 GMT
last-modified:Mon, 31 Oct 2022 21:26:16 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898719

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Central nervous system"},{"name" : "system","valueString" : "http://snomed.info/sct"},{"name" : "code","valueString" : "21483005"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20220731"},{"name" : "result","valueBoolean" : true}]}

#40

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"codeableConcept","valueCodeableConcept":{"coding":[{"code":"diagnostic"}]}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://hl7.org/fhir/ValueSet/research-study-prim-purp-type|4.0.1"},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"research-study-prim-purp-type","meta":{"lastUpdated":"2020-04-09T21:10:28.568+00:00"},"text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This code system <code>http://terminology.hl7.org/CodeSystem/research-study-prim-purp-type</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">treatment<a name=\"research-study-prim-purp-type-treatment\"> </a></td><td>Treatment</td><td>One or more interventions are being evaluated for treating a disease, syndrome, or condition.</td></tr><tr><td style=\"white-space:nowrap\">prevention<a name=\"research-study-prim-purp-type-prevention\"> </a></td><td>Prevention</td><td>One or more interventions are being assessed for preventing the development of a specific disease or health condition.</td></tr><tr><td style=\"white-space:nowrap\">diagnostic<a name=\"research-study-prim-purp-type-diagnostic\"> </a></td><td>Diagnostic</td><td>One or more interventions are being evaluated for identifying a disease or health condition.</td></tr><tr><td style=\"white-space:nowrap\">supportive-care<a name=\"research-study-prim-purp-type-supportive-care\"> </a></td><td>Supportive Care</td><td>One or more interventions are evaluated for maximizing comfort, minimizing side effects, or mitigating against a decline in the participant's health or function.</td></tr><tr><td style=\"white-space:nowrap\">screening<a name=\"research-study-prim-purp-type-screening\"> </a></td><td>Screening</td><td>One or more interventions are assessed or examined for identifying a condition, or risk factors for a condition, in people who are not yet known to have the condition or risk factor.</td></tr><tr><td style=\"white-space:nowrap\">health-services-research<a name=\"research-study-prim-purp-type-health-services-research\"> </a></td><td>Health Services Research</td><td>One or more interventions for evaluating the delivery, processes, management, organization, or financing of healthcare.</td></tr><tr><td style=\"white-space:nowrap\">basic-science<a name=\"research-study-prim-purp-type-basic-science\"> </a></td><td>Basic Science</td><td>One or more interventions for examining the basic mechanism of action (for example, physiology or biomechanics of an intervention).</td></tr><tr><td style=\"white-space:nowrap\">device-feasibility<a name=\"research-study-prim-purp-type-device-feasibility\"> </a></td><td>Device Feasibility</td><td>An intervention of a device product is being evaluated to determine the feasibility of the product or to test a prototype device and not health outcomes. Such studies are conducted to confirm the design and operating specifications of a device before beginning a full clinical trial.</td></tr></table></div>"},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"brr"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":0}],"url":"http://terminology.hl7.org/CodeSystem/research-study-prim-purp-type","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.1.1250"}],"version":"0.1.0","name":"ResearchStudyPrimaryPurposeType","title":"ResearchStudyPrimaryPurposeType","status":"draft","experimental":false,"date":"2020-04-09T21:10:28+00:00","publisher":"HL7 (FHIR Project)","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"},{"system":"email","value":"fhir@lists.hl7.org"}]}],"description":"Codes for the main intent of the study.","caseSensitive":true,"valueSet":"http://terminology.hl7.org/ValueSet/research-study-prim-purp-type","content":"complete","concept":[{"code":"treatment","display":"Treatment","definition":"One or more interventions are being evaluated for treating a disease, syndrome, or condition."},{"code":"prevention","display":"Prevention","definition":"One or more interventions are being assessed for preventing the development of a specific disease or health condition."},{"code":"diagnostic","display":"Diagnostic","definition":"One or more interventions are being evaluated for identifying a disease or health condition."},{"code":"supportive-care","display":"Supportive Care","definition":"One or more interventions are evaluated for maximizing comfort, minimizing side effects, or mitigating against a decline in the participant's health or function."},{"code":"screening","display":"Screening","definition":"One or more interventions are assessed or examined for identifying a condition, or risk factors for a condition, in people who are not yet known to have the condition or risk factor."},{"code":"health-services-research","display":"Health Services Research","definition":"One or more interventions for evaluating the delivery, processes, management, organization, or financing of healthcare."},{"code":"basic-science","display":"Basic Science","definition":"One or more interventions for examining the basic mechanism of action (for example, physiology or biomechanics of an intervention)."},{"code":"device-feasibility","display":"Device Feasibility","definition":"An intervention of a device product is being evaluated to determine the feasibility of the product or to test a prototype device and not health outcomes. Such studies are conducted to confirm the design and operating specifications of a device before beginning a full clinical trial."}]}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:351
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:17 GMT
last-modified:Mon, 31 Oct 2022 21:26:17 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898720

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "The code system '' is not known (encountered paired with code = 'diagnostic'); The code provided (#diagnostic) is not valid in the value set 'ResearchStudyPrimaryPurposeType'"},{"name" : "cause","valueString" : "not-found"}]}

#41

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"TR"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:17 GMT
last-modified:Mon, 31 Oct 2022 21:26:17 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898721

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "TR"},{"name" : "system","valueString" : "http://unitsofmeasure.org"},{"name" : "code","valueString" : "TR"},{"name" : "version","valueString" : "2.0.1"},{"name" : "result","valueBoolean" : true}]}

#42

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/report-codes--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:270
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:17 GMT
last-modified:Mon, 31 Oct 2022 21:26:17 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898722

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "81247-9"},{"name" : "result","valueBoolean" : true}]}

#43

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9","display":"Master HL7 genetic variant reporting panel"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"report-codes","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"oo"}],"url":"http://hl7.org/fhir/ValueSet/report-codes","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.233"}],"version":"4.0.1","name":"LOINCDiagnosticReportCodes","title":"LOINC Diagnostic Report Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set includes LOINC codes that relate to Diagnostic Observations.","copyright":"This content from LOINC® is copyright © 1995 Regenstrief Institute, Inc. and the LOINC Committee, and available at no cost under the license at http://loinc.org/terms-of-use.","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:314
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:17 GMT
last-modified:Mon, 31 Oct 2022 21:26:17 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898724

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "81247-9"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#44

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:314
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:17 GMT
last-modified:Mon, 31 Oct 2022 21:26:17 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898725

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "81247-9"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#45

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance [Imp]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:317
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:18 GMT
last-modified:Mon, 31 Oct 2022 21:26:18 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898726

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Genetic variation clinical significance [Imp]"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "53037-8"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#46

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6682-4","display":"Unknown Significance"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:293
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:18 GMT
server:nginx
x-request-id:47-1898727

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "Unknown Significance"},{"name" : "system","valueString" : "http://loinc.org"},{"name" : "code","valueString" : "LA6682-4"},{"name" : "version","valueString" : "2.73"},{"name" : "result","valueBoolean" : true}]}

#47

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:3656
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:30 GMT
server:nginx
x-request-id:47-1898739

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"},"diagnostics" : "(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(0000000000EDAEDE){FHIRServer.exe} [00000000012DBEDE] Unknown function at TMethodImplementationIntercept + $E34BDE\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#48

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-dd-case-control-vs-1","text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <code>https://uts.nlm.nih.gov/uts/umls</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>C99269</td><td>Case</td></tr><tr><td>C99270</td><td>Control</td></tr></table></li></ul></div>"},"url":"http://example.org/my-dataset/fhir/valueset/case-control","version":"0.2.0","name":"ExampleStudyDDCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2022-10-31T21:26:01+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:3656
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:30 GMT
server:nginx
x-request-id:47-1898741

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"},"diagnostics" : "(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(0000000000EDAEDE){FHIRServer.exe} [00000000012DBEDE] Unknown function at TMethodImplementationIntercept + $E34BDE\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#49

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:259
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:35 GMT
server:nginx
x-request-id:47-1898745

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "World"},{"name" : "system","valueString" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueString" : "001"},{"name" : "result","valueBoolean" : true}]}

#50

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:3656
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:40 GMT
server:nginx
x-request-id:47-1898750

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"},"diagnostics" : "(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(0000000000EDAEDE){FHIRServer.exe} [00000000012DBEDE] Unknown function at TMethodImplementationIntercept + $E34BDE\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#51

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"hpo","text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Properties</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Type</b></td><td><b>Description</b></td></tr><tr><td>parent</td><td>code</td><td>Parent codes.</td></tr><tr><td>imported</td><td>boolean</td><td>Indicates if the concept is imported from another code system.</td></tr><tr><td>root</td><td>boolean</td><td>Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)</td></tr><tr><td>deprecated</td><td>boolean</td><td>Indicates if this concept is deprecated.</td></tr></table><p><b>Filters</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Description</b></td><td><b>operator</b></td><td><b>Value</b></td></tr><tr><td>root</td><td/><td>= </td><td>True or false.</td></tr><tr><td>deprecated</td><td/><td>= </td><td>True or false.</td></tr><tr><td>imported</td><td/><td>= </td><td>True or false</td></tr></table><p>This code system <code>http://purl.obolibrary.org/obo/hp.owl</code> defines many codes, of which the following are a subset:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">HP:0000365<a name=\"hpo-HP.580000365\"> </a></td><td>Hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0002564<a name=\"hpo-HP.580002564\"> </a></td><td>obsolete Malformation of the heart and great vessels</td></tr><tr><td style=\"white-space:nowrap\">HP:0001028<a name=\"hpo-HP.580001028\"> </a></td><td>Hemangioma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000476<a name=\"hpo-HP.580000476\"> </a></td><td>Cystic hygroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000568<a name=\"hpo-HP.580000568\"> </a></td><td>Microphthalmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000518<a name=\"hpo-HP.580000518\"> </a></td><td>Cataract</td></tr><tr><td style=\"white-space:nowrap\">HP:0000612<a name=\"hpo-HP.580000612\"> </a></td><td>Iris coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000567<a name=\"hpo-HP.580000567\"> </a></td><td>Chorioretinal coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000316<a name=\"hpo-HP.580000316\"> </a></td><td>Hypertelorism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000482<a name=\"hpo-HP.580000482\"> </a></td><td>Microcornea</td></tr><tr><td style=\"white-space:nowrap\">HP:0000588<a name=\"hpo-HP.580000588\"> </a></td><td>Optic nerve coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0004426<a name=\"hpo-HP.580004426\"> </a></td><td>Abnormality of the cheek</td></tr><tr><td style=\"white-space:nowrap\">HP:0009125<a name=\"hpo-HP.580009125\"> </a></td><td>Lipodystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002023<a name=\"hpo-HP.580002023\"> </a></td><td>Anal atresia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003468<a name=\"hpo-HP.580003468\"> </a></td><td>Abnormal vertebral morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000545<a name=\"hpo-HP.580000545\"> </a></td><td>Myopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000122<a name=\"hpo-HP.580000122\"> </a></td><td>Unilateral renal agenesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002143<a name=\"hpo-HP.580002143\"> </a></td><td>Abnormality of the spinal cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0003508<a name=\"hpo-HP.580003508\"> </a></td><td>Proportionate short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0000271<a name=\"hpo-HP.580000271\"> </a></td><td>Abnormality of the face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000637<a name=\"hpo-HP.580000637\"> </a></td><td>Long palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000492<a name=\"hpo-HP.580000492\"> </a></td><td>Abnormal eyelid morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000389<a name=\"hpo-HP.580000389\"> </a></td><td>Chronic otitis media</td></tr><tr><td style=\"white-space:nowrap\">HP:0000400<a name=\"hpo-HP.580000400\"> </a></td><td>Macrotia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000405<a name=\"hpo-HP.580000405\"> </a></td><td>Conductive hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0012712<a name=\"hpo-HP.580012712\"> </a></td><td>Mild hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0005280<a name=\"hpo-HP.580005280\"> </a></td><td>Depressed nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000431<a name=\"hpo-HP.580000431\"> </a></td><td>Wide nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000319<a name=\"hpo-HP.580000319\"> </a></td><td>Smooth philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000175<a name=\"hpo-HP.580000175\"> </a></td><td>Cleft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0001611<a name=\"hpo-HP.580001611\"> </a></td><td>Nasal speech</td></tr><tr><td style=\"white-space:nowrap\">HP:0002099<a name=\"hpo-HP.580002099\"> </a></td><td>Asthma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001397<a name=\"hpo-HP.580001397\"> </a></td><td>Hepatic steatosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001081<a name=\"hpo-HP.580001081\"> </a></td><td>Cholelithiasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002650<a name=\"hpo-HP.580002650\"> </a></td><td>Scoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001212<a name=\"hpo-HP.580001212\"> </a></td><td>Prominent fingertip pads</td></tr><tr><td style=\"white-space:nowrap\">HP:0001328<a name=\"hpo-HP.580001328\"> </a></td><td>Specific learning disability</td></tr><tr><td style=\"white-space:nowrap\">HP:0000824<a name=\"hpo-HP.580000824\"> </a></td><td>Growth hormone deficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002607<a name=\"hpo-HP.580002607\"> </a></td><td>Bowel incontinence</td></tr><tr><td style=\"white-space:nowrap\">HP:0100731<a name=\"hpo-HP.580100731\"> </a></td><td>Transverse facial cleft</td></tr><tr><td style=\"white-space:nowrap\">HP:0000528<a name=\"hpo-HP.580000528\"> </a></td><td>Anophthalmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000601<a name=\"hpo-HP.580000601\"> </a></td><td>Hypotelorism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000369<a name=\"hpo-HP.580000369\"> </a></td><td>Low-set ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0001274<a name=\"hpo-HP.580001274\"> </a></td><td>Agenesis of corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002084<a name=\"hpo-HP.580002084\"> </a></td><td>Encephalocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0007033<a name=\"hpo-HP.580007033\"> </a></td><td>Cerebellar dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100336<a name=\"hpo-HP.580100336\"> </a></td><td>Bilateral cleft lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0100337<a name=\"hpo-HP.580100337\"> </a></td><td>Bilateral cleft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0001511<a name=\"hpo-HP.580001511\"> </a></td><td>Intrauterine growth retardation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011451<a name=\"hpo-HP.580011451\"> </a></td><td>Congenital microcephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000324<a name=\"hpo-HP.580000324\"> </a></td><td>Facial asymmetry</td></tr><tr><td style=\"white-space:nowrap\">HP:0000581<a name=\"hpo-HP.580000581\"> </a></td><td>Blepharophimosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000508<a name=\"hpo-HP.580000508\"> </a></td><td>Ptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008551<a name=\"hpo-HP.580008551\"> </a></td><td>Microtia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001631<a name=\"hpo-HP.580001631\"> </a></td><td>Atrial septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0000085<a name=\"hpo-HP.580000085\"> </a></td><td>Horseshoe kidney</td></tr><tr><td style=\"white-space:nowrap\">HP:0011927<a name=\"hpo-HP.580011927\"> </a></td><td>Short digit</td></tr><tr><td style=\"white-space:nowrap\">HP:0001156<a name=\"hpo-HP.580001156\"> </a></td><td>Brachydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002066<a name=\"hpo-HP.580002066\"> </a></td><td>Gait ataxia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001250<a name=\"hpo-HP.580001250\"> </a></td><td>Seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001263<a name=\"hpo-HP.580001263\"> </a></td><td>Global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0001562<a name=\"hpo-HP.580001562\"> </a></td><td>Oligohydramnios</td></tr><tr><td style=\"white-space:nowrap\">HP:0001195<a name=\"hpo-HP.580001195\"> </a></td><td>Single umbilical artery</td></tr><tr><td style=\"white-space:nowrap\">HP:0006349<a name=\"hpo-HP.580006349\"> </a></td><td>Agenesis of permanent teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000668<a name=\"hpo-HP.580000668\"> </a></td><td>Hypodontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000677<a name=\"hpo-HP.580000677\"> </a></td><td>Oligodontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001252<a name=\"hpo-HP.580001252\"> </a></td><td>Muscular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003429<a name=\"hpo-HP.580003429\"> </a></td><td>CNS hypomyelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0010864<a name=\"hpo-HP.580010864\"> </a></td><td>Intellectual disability, severe</td></tr><tr><td style=\"white-space:nowrap\">HP:0004325<a name=\"hpo-HP.580004325\"> </a></td><td>Decreased body weight</td></tr><tr><td style=\"white-space:nowrap\">HP:0000666<a name=\"hpo-HP.580000666\"> </a></td><td>Horizontal nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000218<a name=\"hpo-HP.580000218\"> </a></td><td>High palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0010809<a name=\"hpo-HP.580010809\"> </a></td><td>Broad uvula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000767<a name=\"hpo-HP.580000767\"> </a></td><td>Pectus excavatum</td></tr><tr><td style=\"white-space:nowrap\">HP:0003691<a name=\"hpo-HP.580003691\"> </a></td><td>Scapular winging</td></tr><tr><td style=\"white-space:nowrap\">HP:0002616<a name=\"hpo-HP.580002616\"> </a></td><td>Aortic root aneurysm</td></tr><tr><td style=\"white-space:nowrap\">HP:0001601<a name=\"hpo-HP.580001601\"> </a></td><td>Laryngomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002021<a name=\"hpo-HP.580002021\"> </a></td><td>Pyloric stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001388<a name=\"hpo-HP.580001388\"> </a></td><td>Joint laxity</td></tr><tr><td style=\"white-space:nowrap\">HP:0001187<a name=\"hpo-HP.580001187\"> </a></td><td>Hyperextensibility of the finger joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0000741<a name=\"hpo-HP.580000741\"> </a></td><td>Apathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000817<a name=\"hpo-HP.580000817\"> </a></td><td>Poor eye contact</td></tr><tr><td style=\"white-space:nowrap\">HP:0000821<a name=\"hpo-HP.580000821\"> </a></td><td>Hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000002<a name=\"hpo-HP.580000002\"> </a></td><td>Abnormality of body height</td></tr><tr><td style=\"white-space:nowrap\">HP:0000079<a name=\"hpo-HP.580000079\"> </a></td><td>Abnormality of the urinary system</td></tr><tr><td style=\"white-space:nowrap\">HP:0000164<a name=\"hpo-HP.580000164\"> </a></td><td>Abnormality of the dentition</td></tr><tr><td style=\"white-space:nowrap\">HP:0000364<a name=\"hpo-HP.580000364\"> </a></td><td>Hearing abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0000366<a name=\"hpo-HP.580000366\"> </a></td><td>Abnormality of the nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0000464<a name=\"hpo-HP.580000464\"> </a></td><td>Abnormality of the neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0000707<a name=\"hpo-HP.580000707\"> </a></td><td>Abnormality of the nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0000708<a name=\"hpo-HP.580000708\"> </a></td><td>Behavioral abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0000769<a name=\"hpo-HP.580000769\"> </a></td><td>Abnormality of the breast</td></tr><tr><td style=\"white-space:nowrap\">HP:0000772<a name=\"hpo-HP.580000772\"> </a></td><td>Abnormality of the ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000775<a name=\"hpo-HP.580000775\"> </a></td><td>Abnormality of the diaphragm</td></tr><tr><td style=\"white-space:nowrap\">HP:0000889<a name=\"hpo-HP.580000889\"> </a></td><td>Abnormality of the clavicle</td></tr><tr><td style=\"white-space:nowrap\">HP:0000925<a name=\"hpo-HP.580000925\"> </a></td><td>Abnormality of the vertebral column</td></tr><tr><td style=\"white-space:nowrap\">HP:0001080<a name=\"hpo-HP.580001080\"> </a></td><td>Biliary tract abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0001392<a name=\"hpo-HP.580001392\"> </a></td><td>Abnormality of the liver</td></tr><tr><td style=\"white-space:nowrap\">HP:0001438<a name=\"hpo-HP.580001438\"> </a></td><td>Abnormal abdomen morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001608<a name=\"hpo-HP.580001608\"> </a></td><td>Abnormality of the voice</td></tr><tr><td style=\"white-space:nowrap\">HP:0001627<a name=\"hpo-HP.580001627\"> </a></td><td>Abnormal heart morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001732<a name=\"hpo-HP.580001732\"> </a></td><td>Abnormality of the pancreas</td></tr><tr><td style=\"white-space:nowrap\">HP:0001739<a name=\"hpo-HP.580001739\"> </a></td><td>Abnormality of the nasopharynx</td></tr><tr><td style=\"white-space:nowrap\">HP:0001743<a name=\"hpo-HP.580001743\"> </a></td><td>Abnormality of the spleen</td></tr><tr><td style=\"white-space:nowrap\">HP:0001760<a name=\"hpo-HP.580001760\"> </a></td><td>Abnormal foot morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001871<a name=\"hpo-HP.580001871\"> </a></td><td>Abnormality of blood and blood-forming tissues</td></tr><tr><td style=\"white-space:nowrap\">HP:0002031<a name=\"hpo-HP.580002031\"> </a></td><td>Abnormal esophagus morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002244<a name=\"hpo-HP.580002244\"> </a></td><td>Abnormality of the small intestine</td></tr><tr><td style=\"white-space:nowrap\">HP:0002246<a name=\"hpo-HP.580002246\"> </a></td><td>Abnormality of the duodenum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002250<a name=\"hpo-HP.580002250\"> </a></td><td>Abnormal large intestine morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002644<a name=\"hpo-HP.580002644\"> </a></td><td>Abnormality of pelvic girdle bone morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002664<a name=\"hpo-HP.580002664\"> </a></td><td>Neoplasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0002715<a name=\"hpo-HP.580002715\"> </a></td><td>Abnormality of the immune system</td></tr><tr><td style=\"white-space:nowrap\">HP:0002814<a name=\"hpo-HP.580002814\"> </a></td><td>Abnormality of the lower limb</td></tr><tr><td style=\"white-space:nowrap\">HP:0002817<a name=\"hpo-HP.580002817\"> </a></td><td>Abnormality of the upper limb</td></tr><tr><td style=\"white-space:nowrap\">HP:0005483<a name=\"hpo-HP.580005483\"> </a></td><td>Abnormal epiglottis morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008777<a name=\"hpo-HP.580008777\"> </a></td><td>Abnormal vocal cord morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011844<a name=\"hpo-HP.580011844\"> </a></td><td>Abnormal appendicular skeleton morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012732<a name=\"hpo-HP.580012732\"> </a></td><td>Anorectal anomaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001508<a name=\"hpo-HP.580001508\"> </a></td><td>Failure to thrive</td></tr><tr><td style=\"white-space:nowrap\">HP:0002902<a name=\"hpo-HP.580002902\"> </a></td><td>Hyponatremia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012236<a name=\"hpo-HP.580012236\"> </a></td><td>Elevated sweat chloride</td></tr><tr><td style=\"white-space:nowrap\">HP:0000347<a name=\"hpo-HP.580000347\"> </a></td><td>Micrognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000926<a name=\"hpo-HP.580000926\"> </a></td><td>Platyspondyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001371<a name=\"hpo-HP.580001371\"> </a></td><td>Flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0001875<a name=\"hpo-HP.580001875\"> </a></td><td>Neutropenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001888<a name=\"hpo-HP.580001888\"> </a></td><td>Lymphopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002857<a name=\"hpo-HP.580002857\"> </a></td><td>Genu valgum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002986<a name=\"hpo-HP.580002986\"> </a></td><td>Radial bowing</td></tr><tr><td style=\"white-space:nowrap\">HP:0003015<a name=\"hpo-HP.580003015\"> </a></td><td>Flared metaphysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003025<a name=\"hpo-HP.580003025\"> </a></td><td>Metaphyseal irregularity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003097<a name=\"hpo-HP.580003097\"> </a></td><td>Short femur</td></tr><tr><td style=\"white-space:nowrap\">HP:0003300<a name=\"hpo-HP.580003300\"> </a></td><td>Ovoid vertebral bodies</td></tr><tr><td style=\"white-space:nowrap\">HP:0003307<a name=\"hpo-HP.580003307\"> </a></td><td>Hyperlordosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004209<a name=\"hpo-HP.580004209\"> </a></td><td>Clinodactyly of the 5th finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0004322<a name=\"hpo-HP.580004322\"> </a></td><td>Short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0005792<a name=\"hpo-HP.580005792\"> </a></td><td>Short humerus</td></tr><tr><td style=\"white-space:nowrap\">HP:0006248<a name=\"hpo-HP.580006248\"> </a></td><td>Limited wrist movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0000944<a name=\"hpo-HP.580000944\"> </a></td><td>Abnormality of the metaphysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011921<a name=\"hpo-HP.580011921\"> </a></td><td>Exudative pleural effusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0003043<a name=\"hpo-HP.580003043\"> </a></td><td>Abnormality of the shoulder</td></tr><tr><td style=\"white-space:nowrap\">HP:0000290<a name=\"hpo-HP.580000290\"> </a></td><td>Abnormality of the forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0005288<a name=\"hpo-HP.580005288\"> </a></td><td>Abnormality of the nares</td></tr><tr><td style=\"white-space:nowrap\">HP:0000234<a name=\"hpo-HP.580000234\"> </a></td><td>Abnormality of the head</td></tr><tr><td style=\"white-space:nowrap\">HP:0004323<a name=\"hpo-HP.580004323\"> </a></td><td>Abnormality of body weight</td></tr><tr><td style=\"white-space:nowrap\">HP:0000483<a name=\"hpo-HP.580000483\"> </a></td><td>Astigmatism</td></tr><tr><td style=\"white-space:nowrap\">HP:0011003<a name=\"hpo-HP.580011003\"> </a></td><td>High myopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000470<a name=\"hpo-HP.580000470\"> </a></td><td>Short neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0030044<a name=\"hpo-HP.580030044\"> </a></td><td>Flexion contracture of digit</td></tr><tr><td style=\"white-space:nowrap\">HP:0100871<a name=\"hpo-HP.580100871\"> </a></td><td>Abnormality of the palm</td></tr><tr><td style=\"white-space:nowrap\">HP:0004334<a name=\"hpo-HP.580004334\"> </a></td><td>Dermal atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001845<a name=\"hpo-HP.580001845\"> </a></td><td>Overlapping toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0000496<a name=\"hpo-HP.580000496\"> </a></td><td>Abnormality of eye movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0001780<a name=\"hpo-HP.580001780\"> </a></td><td>Abnormality of toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001626<a name=\"hpo-HP.580001626\"> </a></td><td>Abnormality of the cardiovascular system</td></tr><tr><td style=\"white-space:nowrap\">HP:0002086<a name=\"hpo-HP.580002086\"> </a></td><td>Abnormality of the respiratory system</td></tr><tr><td style=\"white-space:nowrap\">HP:0000818<a name=\"hpo-HP.580000818\"> </a></td><td>Abnormality of the endocrine system</td></tr><tr><td style=\"white-space:nowrap\">HP:0012372<a name=\"hpo-HP.580012372\"> </a></td><td>Abnormal eye morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009473<a name=\"hpo-HP.580009473\"> </a></td><td>Joint contracture of the hand</td></tr><tr><td style=\"white-space:nowrap\">HP:0003199<a name=\"hpo-HP.580003199\"> </a></td><td>Decreased muscle mass</td></tr><tr><td style=\"white-space:nowrap\">HP:0003202<a name=\"hpo-HP.580003202\"> </a></td><td>Skeletal muscle atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003551<a name=\"hpo-HP.580003551\"> </a></td><td>Difficulty climbing stairs</td></tr><tr><td style=\"white-space:nowrap\">HP:0002355<a name=\"hpo-HP.580002355\"> </a></td><td>Difficulty walking</td></tr><tr><td style=\"white-space:nowrap\">HP:0003546<a name=\"hpo-HP.580003546\"> </a></td><td>Exercise intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0003325<a name=\"hpo-HP.580003325\"> </a></td><td>Limb-girdle muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003701<a name=\"hpo-HP.580003701\"> </a></td><td>Proximal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003547<a name=\"hpo-HP.580003547\"> </a></td><td>Shoulder girdle muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0007340<a name=\"hpo-HP.580007340\"> </a></td><td>Lower limb muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002168<a name=\"hpo-HP.580002168\"> </a></td><td>Scanning speech</td></tr><tr><td style=\"white-space:nowrap\">HP:0001265<a name=\"hpo-HP.580001265\"> </a></td><td>Hyporeflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001284<a name=\"hpo-HP.580001284\"> </a></td><td>Areflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003477<a name=\"hpo-HP.580003477\"> </a></td><td>Peripheral axonal neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000924<a name=\"hpo-HP.580000924\"> </a></td><td>Abnormality of the skeletal system</td></tr><tr><td style=\"white-space:nowrap\">HP:0001291<a name=\"hpo-HP.580001291\"> </a></td><td>Abnormal cranial nerve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0003687<a name=\"hpo-HP.580003687\"> </a></td><td>Centrally nucleated skeletal muscle fibers</td></tr><tr><td style=\"white-space:nowrap\">HP:0001324<a name=\"hpo-HP.580001324\"> </a></td><td>Muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002515<a name=\"hpo-HP.580002515\"> </a></td><td>Waddling gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0100280<a name=\"hpo-HP.580100280\"> </a></td><td>Crohn's disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0002631<a name=\"hpo-HP.580002631\"> </a></td><td>obsolete Dilatation of ascending aorta</td></tr><tr><td style=\"white-space:nowrap\">HP:0100026<a name=\"hpo-HP.580100026\"> </a></td><td>Arteriovenous malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002637<a name=\"hpo-HP.580002637\"> </a></td><td>Cerebral ischemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002619<a name=\"hpo-HP.580002619\"> </a></td><td>Varicose veins</td></tr><tr><td style=\"white-space:nowrap\">HP:0001159<a name=\"hpo-HP.580001159\"> </a></td><td>Syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002069<a name=\"hpo-HP.580002069\"> </a></td><td>Bilateral tonic-clonic seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000977<a name=\"hpo-HP.580000977\"> </a></td><td>Soft skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0010648<a name=\"hpo-HP.580010648\"> </a></td><td>Dermal translucency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000978<a name=\"hpo-HP.580000978\"> </a></td><td>Bruising susceptibility</td></tr><tr><td style=\"white-space:nowrap\">HP:0001956<a name=\"hpo-HP.580001956\"> </a></td><td>Truncal obesity</td></tr><tr><td style=\"white-space:nowrap\">HP:0000189<a name=\"hpo-HP.580000189\"> </a></td><td>Narrow palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000678<a name=\"hpo-HP.580000678\"> </a></td><td>Dental crowding</td></tr><tr><td style=\"white-space:nowrap\">HP:0002870<a name=\"hpo-HP.580002870\"> </a></td><td>Obstructive sleep apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001763<a name=\"hpo-HP.580001763\"> </a></td><td>Pes planus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000782<a name=\"hpo-HP.580000782\"> </a></td><td>Abnormality of the scapula</td></tr><tr><td style=\"white-space:nowrap\">HP:0001600<a name=\"hpo-HP.580001600\"> </a></td><td>Abnormality of the larynx</td></tr><tr><td style=\"white-space:nowrap\">HP:0002088<a name=\"hpo-HP.580002088\"> </a></td><td>Abnormal lung morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011407<a name=\"hpo-HP.580011407\"> </a></td><td>Proportionate tall stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0000541<a name=\"hpo-HP.580000541\"> </a></td><td>Retinal detachment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001373<a name=\"hpo-HP.580001373\"> </a></td><td>Joint dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000938<a name=\"hpo-HP.580000938\"> </a></td><td>Osteopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002942<a name=\"hpo-HP.580002942\"> </a></td><td>Thoracic kyphosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001840<a name=\"hpo-HP.580001840\"> </a></td><td>Metatarsus adductus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001844<a name=\"hpo-HP.580001844\"> </a></td><td>Abnormality of the hallux</td></tr><tr><td style=\"white-space:nowrap\">HP:0001765<a name=\"hpo-HP.580001765\"> </a></td><td>Hammertoe</td></tr><tr><td style=\"white-space:nowrap\">HP:0000606<a name=\"hpo-HP.580000606\"> </a></td><td>Abnormality of the periorbital region</td></tr><tr><td style=\"white-space:nowrap\">HP:0002757<a name=\"hpo-HP.580002757\"> </a></td><td>Recurrent fractures</td></tr><tr><td style=\"white-space:nowrap\">HP:0000647<a name=\"hpo-HP.580000647\"> </a></td><td>Sclerocornea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001166<a name=\"hpo-HP.580001166\"> </a></td><td>Arachnodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005490<a name=\"hpo-HP.580005490\"> </a></td><td>Postnatal macrocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0011363<a name=\"hpo-HP.580011363\"> </a></td><td>Abnormality of hair growth rate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000276<a name=\"hpo-HP.580000276\"> </a></td><td>Long face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000275<a name=\"hpo-HP.580000275\"> </a></td><td>Narrow face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000337<a name=\"hpo-HP.580000337\"> </a></td><td>Broad forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0002267<a name=\"hpo-HP.580002267\"> </a></td><td>Exaggerated startle response</td></tr><tr><td style=\"white-space:nowrap\">HP:0002187<a name=\"hpo-HP.580002187\"> </a></td><td>Intellectual disability, profound</td></tr><tr><td style=\"white-space:nowrap\">HP:0000728<a name=\"hpo-HP.580000728\"> </a></td><td>Impaired ability to form peer relationships</td></tr><tr><td style=\"white-space:nowrap\">HP:0000733<a name=\"hpo-HP.580000733\"> </a></td><td>Stereotypy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000739<a name=\"hpo-HP.580000739\"> </a></td><td>Anxiety</td></tr><tr><td style=\"white-space:nowrap\">HP:0000929<a name=\"hpo-HP.580000929\"> </a></td><td>Abnormal skull morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001965<a name=\"hpo-HP.580001965\"> </a></td><td>Abnormal scalp morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0100538<a name=\"hpo-HP.580100538\"> </a></td><td>Abnormality of the supraorbital ridges</td></tr><tr><td style=\"white-space:nowrap\">HP:0000309<a name=\"hpo-HP.580000309\"> </a></td><td>Abnormality of the midface</td></tr><tr><td style=\"white-space:nowrap\">HP:0000277<a name=\"hpo-HP.580000277\"> </a></td><td>Abnormality of the mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0000765<a name=\"hpo-HP.580000765\"> </a></td><td>Abnormality of the thorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0100008<a name=\"hpo-HP.580100008\"> </a></td><td>Schwannoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0030038<a name=\"hpo-HP.580030038\"> </a></td><td>Enchondroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0100777<a name=\"hpo-HP.580100777\"> </a></td><td>Exostoses</td></tr><tr><td style=\"white-space:nowrap\">HP:0011663<a name=\"hpo-HP.580011663\"> </a></td><td>Right ventricular cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011675<a name=\"hpo-HP.580011675\"> </a></td><td>Arrhythmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001962<a name=\"hpo-HP.580001962\"> </a></td><td>Palpitations</td></tr><tr><td style=\"white-space:nowrap\">HP:0001279<a name=\"hpo-HP.580001279\"> </a></td><td>Syncope</td></tr><tr><td style=\"white-space:nowrap\">HP:0004756<a name=\"hpo-HP.580004756\"> </a></td><td>Ventricular tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000252<a name=\"hpo-HP.580000252\"> </a></td><td>Microcephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000303<a name=\"hpo-HP.580000303\"> </a></td><td>Mandibular prognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000664<a name=\"hpo-HP.580000664\"> </a></td><td>Synophrys</td></tr><tr><td style=\"white-space:nowrap\">HP:0001609<a name=\"hpo-HP.580001609\"> </a></td><td>Hoarse voice</td></tr><tr><td style=\"white-space:nowrap\">HP:0002558<a name=\"hpo-HP.580002558\"> </a></td><td>Supernumerary nipple</td></tr><tr><td style=\"white-space:nowrap\">HP:0001634<a name=\"hpo-HP.580001634\"> </a></td><td>Mitral valve prolapse</td></tr><tr><td style=\"white-space:nowrap\">HP:0000028<a name=\"hpo-HP.580000028\"> </a></td><td>Cryptorchidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000973<a name=\"hpo-HP.580000973\"> </a></td><td>Cutis laxa</td></tr><tr><td style=\"white-space:nowrap\">HP:0001518<a name=\"hpo-HP.580001518\"> </a></td><td>Small for gestational age</td></tr><tr><td style=\"white-space:nowrap\">HP:0000527<a name=\"hpo-HP.580000527\"> </a></td><td>Long eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002808<a name=\"hpo-HP.580002808\"> </a></td><td>Kyphosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000248<a name=\"hpo-HP.580000248\"> </a></td><td>Brachycephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000505<a name=\"hpo-HP.580000505\"> </a></td><td>Visual impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000512<a name=\"hpo-HP.580000512\"> </a></td><td>Abnormal electroretinogram</td></tr><tr><td style=\"white-space:nowrap\">HP:0000517<a name=\"hpo-HP.580000517\"> </a></td><td>Abnormality of the lens</td></tr><tr><td style=\"white-space:nowrap\">HP:0000529<a name=\"hpo-HP.580000529\"> </a></td><td>Progressive visual loss</td></tr><tr><td style=\"white-space:nowrap\">HP:0000586<a name=\"hpo-HP.580000586\"> </a></td><td>Shallow orbits</td></tr><tr><td style=\"white-space:nowrap\">HP:0000603<a name=\"hpo-HP.580000603\"> </a></td><td>Central scotoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000939<a name=\"hpo-HP.580000939\"> </a></td><td>Osteoporosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001377<a name=\"hpo-HP.580001377\"> </a></td><td>Limited elbow extension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001387<a name=\"hpo-HP.580001387\"> </a></td><td>Joint stiffness</td></tr><tr><td style=\"white-space:nowrap\">HP:0001822<a name=\"hpo-HP.580001822\"> </a></td><td>Hallux valgus</td></tr><tr><td style=\"white-space:nowrap\">HP:0002657<a name=\"hpo-HP.580002657\"> </a></td><td>Spondylometaphyseal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003026<a name=\"hpo-HP.580003026\"> </a></td><td>Short long bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0006462<a name=\"hpo-HP.580006462\"> </a></td><td>Generalized bone demineralization</td></tr><tr><td style=\"white-space:nowrap\">HP:0008873<a name=\"hpo-HP.580008873\"> </a></td><td>Disproportionate short-limb short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0008905<a name=\"hpo-HP.580008905\"> </a></td><td>Rhizomelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008922<a name=\"hpo-HP.580008922\"> </a></td><td>Childhood-onset short-trunk short stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0200020<a name=\"hpo-HP.580200020\"> </a></td><td>Corneal erosion</td></tr><tr><td style=\"white-space:nowrap\">HP:0001172<a name=\"hpo-HP.580001172\"> </a></td><td>Abnormal thumb morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002286<a name=\"hpo-HP.580002286\"> </a></td><td>Fair hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0010719<a name=\"hpo-HP.580010719\"> </a></td><td>Abnormality of hair texture</td></tr><tr><td style=\"white-space:nowrap\">HP:0010720<a name=\"hpo-HP.580010720\"> </a></td><td>Abnormal hair pattern</td></tr><tr><td style=\"white-space:nowrap\">HP:0001635<a name=\"hpo-HP.580001635\"> </a></td><td>Congestive heart failure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001644<a name=\"hpo-HP.580001644\"> </a></td><td>Dilated cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001663<a name=\"hpo-HP.580001663\"> </a></td><td>Ventricular fibrillation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011712<a name=\"hpo-HP.580011712\"> </a></td><td>Right bundle branch block</td></tr><tr><td style=\"white-space:nowrap\">HP:0000272<a name=\"hpo-HP.580000272\"> </a></td><td>Malar flattening</td></tr><tr><td style=\"white-space:nowrap\">HP:0000286<a name=\"hpo-HP.580000286\"> </a></td><td>Epicanthus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000322<a name=\"hpo-HP.580000322\"> </a></td><td>Short philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000463<a name=\"hpo-HP.580000463\"> </a></td><td>Anteverted nares</td></tr><tr><td style=\"white-space:nowrap\">HP:0000494<a name=\"hpo-HP.580000494\"> </a></td><td>Downslanted palpebral fissures</td></tr><tr><td style=\"white-space:nowrap\">HP:0000543<a name=\"hpo-HP.580000543\"> </a></td><td>Optic disc pallor</td></tr><tr><td style=\"white-space:nowrap\">HP:0000699<a name=\"hpo-HP.580000699\"> </a></td><td>Diastema</td></tr><tr><td style=\"white-space:nowrap\">HP:0000773<a name=\"hpo-HP.580000773\"> </a></td><td>Short ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000887<a name=\"hpo-HP.580000887\"> </a></td><td>Cupped ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000946<a name=\"hpo-HP.580000946\"> </a></td><td>Hypoplastic ilia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000954<a name=\"hpo-HP.580000954\"> </a></td><td>Single transverse palmar crease</td></tr><tr><td style=\"white-space:nowrap\">HP:0001182<a name=\"hpo-HP.580001182\"> </a></td><td>Tapered finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0001537<a name=\"hpo-HP.580001537\"> </a></td><td>Umbilical hernia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002007<a name=\"hpo-HP.580002007\"> </a></td><td>Frontal bossing</td></tr><tr><td style=\"white-space:nowrap\">HP:0002980<a name=\"hpo-HP.580002980\"> </a></td><td>Femoral bowing</td></tr><tr><td style=\"white-space:nowrap\">HP:0002982<a name=\"hpo-HP.580002982\"> </a></td><td>Tibial bowing</td></tr><tr><td style=\"white-space:nowrap\">HP:0003021<a name=\"hpo-HP.580003021\"> </a></td><td>Metaphyseal cupping</td></tr><tr><td style=\"white-space:nowrap\">HP:0005011<a name=\"hpo-HP.580005011\"> </a></td><td>Mesomelic arm shortening</td></tr><tr><td style=\"white-space:nowrap\">HP:0008803<a name=\"hpo-HP.580008803\"> </a></td><td>obsolete Narrow sacroiliac notch</td></tr><tr><td style=\"white-space:nowrap\">HP:0009117<a name=\"hpo-HP.580009117\"> </a></td><td>Aplasia/Hypoplasia of the maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0011220<a name=\"hpo-HP.580011220\"> </a></td><td>Prominent forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0012801<a name=\"hpo-HP.580012801\"> </a></td><td>Narrow jaw</td></tr><tr><td style=\"white-space:nowrap\">HP:0000243<a name=\"hpo-HP.580000243\"> </a></td><td>Trigonocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000358<a name=\"hpo-HP.580000358\"> </a></td><td>Posteriorly rotated ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0000411<a name=\"hpo-HP.580000411\"> </a></td><td>Protruding ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0000646<a name=\"hpo-HP.580000646\"> </a></td><td>Amblyopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002812<a name=\"hpo-HP.580002812\"> </a></td><td>Coxa vara</td></tr><tr><td style=\"white-space:nowrap\">HP:0002970<a name=\"hpo-HP.580002970\"> </a></td><td>Genu varum</td></tr><tr><td style=\"white-space:nowrap\">HP:0012775<a name=\"hpo-HP.580012775\"> </a></td><td>Stellate iris</td></tr><tr><td style=\"white-space:nowrap\">HP:0000278<a name=\"hpo-HP.580000278\"> </a></td><td>Retrognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0009796<a name=\"hpo-HP.580009796\"> </a></td><td>Branchial cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0002474<a name=\"hpo-HP.580002474\"> </a></td><td>Expressive language delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0007018<a name=\"hpo-HP.580007018\"> </a></td><td>Attention deficit hyperactivity disorder</td></tr><tr><td style=\"white-space:nowrap\">HP:0003198<a name=\"hpo-HP.580003198\"> </a></td><td>Myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003324<a name=\"hpo-HP.580003324\"> </a></td><td>Generalized muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003552<a name=\"hpo-HP.580003552\"> </a></td><td>Muscle stiffness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003554<a name=\"hpo-HP.580003554\"> </a></td><td>Type 2 muscle fiber atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003557<a name=\"hpo-HP.580003557\"> </a></td><td>Increased variability in muscle fiber diameter</td></tr><tr><td style=\"white-space:nowrap\">HP:0009025<a name=\"hpo-HP.580009025\"> </a></td><td>Increased connective tissue</td></tr><tr><td style=\"white-space:nowrap\">HP:0003635<a name=\"hpo-HP.580003635\"> </a></td><td>Loss of subcutaneous adipose tissue in limbs</td></tr><tr><td style=\"white-space:nowrap\">HP:0002597<a name=\"hpo-HP.580002597\"> </a></td><td>Abnormality of the vasculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0001649<a name=\"hpo-HP.580001649\"> </a></td><td>Tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001638<a name=\"hpo-HP.580001638\"> </a></td><td>Cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001654<a name=\"hpo-HP.580001654\"> </a></td><td>Abnormal heart valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001671<a name=\"hpo-HP.580001671\"> </a></td><td>Abnormal cardiac septum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000103<a name=\"hpo-HP.580000103\"> </a></td><td>Polyuria</td></tr><tr><td style=\"white-space:nowrap\">HP:0000114<a name=\"hpo-HP.580000114\"> </a></td><td>Proximal tubulopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001878<a name=\"hpo-HP.580001878\"> </a></td><td>Hemolytic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001931<a name=\"hpo-HP.580001931\"> </a></td><td>Hypochromic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001935<a name=\"hpo-HP.580001935\"> </a></td><td>Microcytic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001959<a name=\"hpo-HP.580001959\"> </a></td><td>Polydipsia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001994<a name=\"hpo-HP.580001994\"> </a></td><td>Renal Fanconi syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0002134<a name=\"hpo-HP.580002134\"> </a></td><td>Abnormality of the basal ganglia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002188<a name=\"hpo-HP.580002188\"> </a></td><td>Delayed CNS myelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0002908<a name=\"hpo-HP.580002908\"> </a></td><td>Conjugated hyperbilirubinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003774<a name=\"hpo-HP.580003774\"> </a></td><td>Stage 5 chronic kidney disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0010700<a name=\"hpo-HP.580010700\"> </a></td><td>obsolete Total cataract</td></tr><tr><td style=\"white-space:nowrap\">HP:0000193<a name=\"hpo-HP.580000193\"> </a></td><td>Bifid uvula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000219<a name=\"hpo-HP.580000219\"> </a></td><td>Thin upper lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000426<a name=\"hpo-HP.580000426\"> </a></td><td>Prominent nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000452<a name=\"hpo-HP.580000452\"> </a></td><td>Choanal stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000490<a name=\"hpo-HP.580000490\"> </a></td><td>Deeply set eye</td></tr><tr><td style=\"white-space:nowrap\">HP:0000540<a name=\"hpo-HP.580000540\"> </a></td><td>Hypermetropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000579<a name=\"hpo-HP.580000579\"> </a></td><td>Nasolacrimal duct obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0000684<a name=\"hpo-HP.580000684\"> </a></td><td>Delayed eruption of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000960<a name=\"hpo-HP.580000960\"> </a></td><td>Sacral dimple</td></tr><tr><td style=\"white-space:nowrap\">HP:0000998<a name=\"hpo-HP.580000998\"> </a></td><td>Hypertrichosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001643<a name=\"hpo-HP.580001643\"> </a></td><td>Patent ductus arteriosus</td></tr><tr><td style=\"white-space:nowrap\">HP:0010813<a name=\"hpo-HP.580010813\"> </a></td><td>Abnormal number of hair whorls</td></tr><tr><td style=\"white-space:nowrap\">HP:0012384<a name=\"hpo-HP.580012384\"> </a></td><td>Rhinitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012745<a name=\"hpo-HP.580012745\"> </a></td><td>Short palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000359<a name=\"hpo-HP.580000359\"> </a></td><td>Abnormality of the inner ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0000429<a name=\"hpo-HP.580000429\"> </a></td><td>Abnormality of the nasal alae</td></tr><tr><td style=\"white-space:nowrap\">HP:0000436<a name=\"hpo-HP.580000436\"> </a></td><td>Abnormality of the nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000499<a name=\"hpo-HP.580000499\"> </a></td><td>Abnormal eyelash morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000534<a name=\"hpo-HP.580000534\"> </a></td><td>Abnormal eyebrow morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000951<a name=\"hpo-HP.580000951\"> </a></td><td>Abnormality of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0001000<a name=\"hpo-HP.580001000\"> </a></td><td>Abnormality of skin pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001597<a name=\"hpo-HP.580001597\"> </a></td><td>Abnormality of the nail</td></tr><tr><td style=\"white-space:nowrap\">HP:0006483<a name=\"hpo-HP.580006483\"> </a></td><td>Abnormal number of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009929<a name=\"hpo-HP.580009929\"> </a></td><td>Abnormality of the columella</td></tr><tr><td style=\"white-space:nowrap\">HP:0011119<a name=\"hpo-HP.580011119\"> </a></td><td>Abnormality of the nasal dorsum</td></tr><tr><td style=\"white-space:nowrap\">HP:0012808<a name=\"hpo-HP.580012808\"> </a></td><td>Abnormal nasal base</td></tr><tr><td style=\"white-space:nowrap\">HP:0100490<a name=\"hpo-HP.580100490\"> </a></td><td>Camptodactyly of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0000964<a name=\"hpo-HP.580000964\"> </a></td><td>Eczema</td></tr><tr><td style=\"white-space:nowrap\">HP:0004442<a name=\"hpo-HP.580004442\"> </a></td><td>Sagittal craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000414<a name=\"hpo-HP.580000414\"> </a></td><td>Bulbous nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0003180<a name=\"hpo-HP.580003180\"> </a></td><td>Flat acetabular roof</td></tr><tr><td style=\"white-space:nowrap\">HP:0000422<a name=\"hpo-HP.580000422\"> </a></td><td>Abnormality of the nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000614<a name=\"hpo-HP.580000614\"> </a></td><td>Abnormal nasolacrimal system morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001167<a name=\"hpo-HP.580001167\"> </a></td><td>Abnormality of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0001595<a name=\"hpo-HP.580001595\"> </a></td><td>Abnormal hair morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012373<a name=\"hpo-HP.580012373\"> </a></td><td>Abnormal eye physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001655<a name=\"hpo-HP.580001655\"> </a></td><td>Patent foramen ovale</td></tr><tr><td style=\"white-space:nowrap\">HP:0001647<a name=\"hpo-HP.580001647\"> </a></td><td>Bicuspid aortic valve</td></tr><tr><td style=\"white-space:nowrap\">HP:0000574<a name=\"hpo-HP.580000574\"> </a></td><td>Thick eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0001169<a name=\"hpo-HP.580001169\"> </a></td><td>Broad palm</td></tr><tr><td style=\"white-space:nowrap\">HP:0006471<a name=\"hpo-HP.580006471\"> </a></td><td>Fixed elbow flexion</td></tr><tr><td style=\"white-space:nowrap\">HP:0008689<a name=\"hpo-HP.580008689\"> </a></td><td>Bilateral cryptorchidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0011304<a name=\"hpo-HP.580011304\"> </a></td><td>Broad thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0005110<a name=\"hpo-HP.580005110\"> </a></td><td>Atrial fibrillation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001633<a name=\"hpo-HP.580001633\"> </a></td><td>Abnormal mitral valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001641<a name=\"hpo-HP.580001641\"> </a></td><td>Abnormal pulmonary valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001702<a name=\"hpo-HP.580001702\"> </a></td><td>Abnormal tricuspid valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000012<a name=\"hpo-HP.580000012\"> </a></td><td>Urinary urgency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000020<a name=\"hpo-HP.580000020\"> </a></td><td>Urinary incontinence</td></tr><tr><td style=\"white-space:nowrap\">HP:0000131<a name=\"hpo-HP.580000131\"> </a></td><td>Uterine leiomyoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000132<a name=\"hpo-HP.580000132\"> </a></td><td>Menorrhagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000138<a name=\"hpo-HP.580000138\"> </a></td><td>Ovarian cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0000853<a name=\"hpo-HP.580000853\"> </a></td><td>Goiter</td></tr><tr><td style=\"white-space:nowrap\">HP:0000953<a name=\"hpo-HP.580000953\"> </a></td><td>Hyperpigmentation of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0001061<a name=\"hpo-HP.580001061\"> </a></td><td>Acne</td></tr><tr><td style=\"white-space:nowrap\">HP:0002315<a name=\"hpo-HP.580002315\"> </a></td><td>Headache</td></tr><tr><td style=\"white-space:nowrap\">HP:0004324<a name=\"hpo-HP.580004324\"> </a></td><td>Increased body weight</td></tr><tr><td style=\"white-space:nowrap\">HP:0000069<a name=\"hpo-HP.580000069\"> </a></td><td>Abnormality of the ureter</td></tr><tr><td style=\"white-space:nowrap\">HP:0000077<a name=\"hpo-HP.580000077\"> </a></td><td>Abnormality of the kidney</td></tr><tr><td style=\"white-space:nowrap\">HP:0000759<a name=\"hpo-HP.580000759\"> </a></td><td>Abnormal peripheral nervous system morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008069<a name=\"hpo-HP.580008069\"> </a></td><td>Neoplasm of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0011276<a name=\"hpo-HP.580011276\"> </a></td><td>Vascular skin abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0000705<a name=\"hpo-HP.580000705\"> </a></td><td>Amelogenesis imperfecta</td></tr><tr><td style=\"white-space:nowrap\">HP:0001256<a name=\"hpo-HP.580001256\"> </a></td><td>Intellectual disability, mild</td></tr><tr><td style=\"white-space:nowrap\">HP:0000325<a name=\"hpo-HP.580000325\"> </a></td><td>Triangular face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000160<a name=\"hpo-HP.580000160\"> </a></td><td>Narrow mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009487<a name=\"hpo-HP.580009487\"> </a></td><td>Ulnar deviation of the hand</td></tr><tr><td style=\"white-space:nowrap\">HP:0001249<a name=\"hpo-HP.580001249\"> </a></td><td>Intellectual disability</td></tr><tr><td style=\"white-space:nowrap\">HP:0008064<a name=\"hpo-HP.580008064\"> </a></td><td>Ichthyosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000311<a name=\"hpo-HP.580000311\"> </a></td><td>Round face</td></tr><tr><td style=\"white-space:nowrap\">HP:0001653<a name=\"hpo-HP.580001653\"> </a></td><td>Mitral regurgitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001771<a name=\"hpo-HP.580001771\"> </a></td><td>Achilles tendon contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0012032<a name=\"hpo-HP.580012032\"> </a></td><td>Lipoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0012368<a name=\"hpo-HP.580012368\"> </a></td><td>Flat face</td></tr><tr><td style=\"white-space:nowrap\">HP:0030053<a name=\"hpo-HP.580030053\"> </a></td><td>Stiff skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0011124<a name=\"hpo-HP.580011124\"> </a></td><td>Abnormality of epidermal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011097<a name=\"hpo-HP.580011097\"> </a></td><td>Epileptic spasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0000407<a name=\"hpo-HP.580000407\"> </a></td><td>Sensorineural hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000331<a name=\"hpo-HP.580000331\"> </a></td><td>Short chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0000340<a name=\"hpo-HP.580000340\"> </a></td><td>Sloping forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0000486<a name=\"hpo-HP.580000486\"> </a></td><td>Strabismus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000713<a name=\"hpo-HP.580000713\"> </a></td><td>Agitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000802<a name=\"hpo-HP.580000802\"> </a></td><td>Impotence</td></tr><tr><td style=\"white-space:nowrap\">HP:0001272<a name=\"hpo-HP.580001272\"> </a></td><td>Cerebellar atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001276<a name=\"hpo-HP.580001276\"> </a></td><td>Hypertonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001321<a name=\"hpo-HP.580001321\"> </a></td><td>Cerebellar hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001322<a name=\"hpo-HP.580001322\"> </a></td><td>obsolete Brain very small</td></tr><tr><td style=\"white-space:nowrap\">HP:0002061<a name=\"hpo-HP.580002061\"> </a></td><td>Lower limb spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002529<a name=\"hpo-HP.580002529\"> </a></td><td>Neuronal loss in central nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0002540<a name=\"hpo-HP.580002540\"> </a></td><td>Inability to walk</td></tr><tr><td style=\"white-space:nowrap\">HP:0005484<a name=\"hpo-HP.580005484\"> </a></td><td>Postnatal microcephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0012850<a name=\"hpo-HP.580012850\"> </a></td><td>Small intestinal dysmotility</td></tr><tr><td style=\"white-space:nowrap\">HP:0000504<a name=\"hpo-HP.580000504\"> </a></td><td>Abnormality of vision</td></tr><tr><td style=\"white-space:nowrap\">HP:0002118<a name=\"hpo-HP.580002118\"> </a></td><td>Abnormality of the cerebral ventricles</td></tr><tr><td style=\"white-space:nowrap\">HP:0002363<a name=\"hpo-HP.580002363\"> </a></td><td>Abnormality of brainstem morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0010651<a name=\"hpo-HP.580010651\"> </a></td><td>Abnormal meningeal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0100024<a name=\"hpo-HP.580100024\"> </a></td><td>Conspicuously happy disposition</td></tr><tr><td style=\"white-space:nowrap\">HP:0002538<a name=\"hpo-HP.580002538\"> </a></td><td>Abnormality of the cerebral cortex</td></tr><tr><td style=\"white-space:nowrap\">HP:0000054<a name=\"hpo-HP.580000054\"> </a></td><td>Micropenis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000215<a name=\"hpo-HP.580000215\"> </a></td><td>Thick upper lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000293<a name=\"hpo-HP.580000293\"> </a></td><td>Full cheeks</td></tr><tr><td style=\"white-space:nowrap\">HP:0000349<a name=\"hpo-HP.580000349\"> </a></td><td>Widow's peak</td></tr><tr><td style=\"white-space:nowrap\">HP:0000444<a name=\"hpo-HP.580000444\"> </a></td><td>Convex nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000506<a name=\"hpo-HP.580000506\"> </a></td><td>Telecanthus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000592<a name=\"hpo-HP.580000592\"> </a></td><td>Blue sclerae</td></tr><tr><td style=\"white-space:nowrap\">HP:0000691<a name=\"hpo-HP.580000691\"> </a></td><td>Microdontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000698<a name=\"hpo-HP.580000698\"> </a></td><td>Conical tooth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002000<a name=\"hpo-HP.580002000\"> </a></td><td>Short columella</td></tr><tr><td style=\"white-space:nowrap\">HP:0002097<a name=\"hpo-HP.580002097\"> </a></td><td>Emphysema</td></tr><tr><td style=\"white-space:nowrap\">HP:0002209<a name=\"hpo-HP.580002209\"> </a></td><td>Sparse scalp hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0002816<a name=\"hpo-HP.580002816\"> </a></td><td>Genu recurvatum</td></tr><tr><td style=\"white-space:nowrap\">HP:0005116<a name=\"hpo-HP.580005116\"> </a></td><td>Arterial tortuosity</td></tr><tr><td style=\"white-space:nowrap\">HP:0007957<a name=\"hpo-HP.580007957\"> </a></td><td>Corneal opacity</td></tr><tr><td style=\"white-space:nowrap\">HP:0008070<a name=\"hpo-HP.580008070\"> </a></td><td>Sparse hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0009623<a name=\"hpo-HP.580009623\"> </a></td><td>Proximal placement of thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0010055<a name=\"hpo-HP.580010055\"> </a></td><td>Broad hallux</td></tr><tr><td style=\"white-space:nowrap\">HP:0011318<a name=\"hpo-HP.580011318\"> </a></td><td>Bicoronal synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011968<a name=\"hpo-HP.580011968\"> </a></td><td>Feeding difficulties</td></tr><tr><td style=\"white-space:nowrap\">HP:0200067<a name=\"hpo-HP.580200067\"> </a></td><td>Recurrent spontaneous abortion</td></tr><tr><td style=\"white-space:nowrap\">HP:0011819<a name=\"hpo-HP.580011819\"> </a></td><td>Submucous cleft soft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000268<a name=\"hpo-HP.580000268\"> </a></td><td>Dolichocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0003302<a name=\"hpo-HP.580003302\"> </a></td><td>Spondylolisthesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000582<a name=\"hpo-HP.580000582\"> </a></td><td>Upslanted palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000952<a name=\"hpo-HP.580000952\"> </a></td><td>Jaundice</td></tr><tr><td style=\"white-space:nowrap\">HP:0001298<a name=\"hpo-HP.580001298\"> </a></td><td>Encephalopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001396<a name=\"hpo-HP.580001396\"> </a></td><td>Cholestasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002059<a name=\"hpo-HP.580002059\"> </a></td><td>Cerebral atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002171<a name=\"hpo-HP.580002171\"> </a></td><td>Gliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002240<a name=\"hpo-HP.580002240\"> </a></td><td>Hepatomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002353<a name=\"hpo-HP.580002353\"> </a></td><td>EEG abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0002446<a name=\"hpo-HP.580002446\"> </a></td><td>Astrocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003287<a name=\"hpo-HP.580003287\"> </a></td><td>Abnormality of mitochondrial metabolism</td></tr><tr><td style=\"white-space:nowrap\">HP:0011449<a name=\"hpo-HP.580011449\"> </a></td><td>Knee clonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012852<a name=\"hpo-HP.580012852\"> </a></td><td>Hepatic bridging fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100626<a name=\"hpo-HP.580100626\"> </a></td><td>Chronic hepatic failure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000385<a name=\"hpo-HP.580000385\"> </a></td><td>Small earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0009748<a name=\"hpo-HP.580009748\"> </a></td><td>Large earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0000157<a name=\"hpo-HP.580000157\"> </a></td><td>Abnormality of the tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0000172<a name=\"hpo-HP.580000172\"> </a></td><td>Abnormality of the uvula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000174<a name=\"hpo-HP.580000174\"> </a></td><td>Abnormal palate morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000306<a name=\"hpo-HP.580000306\"> </a></td><td>Abnormality of the chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0004408<a name=\"hpo-HP.580004408\"> </a></td><td>Abnormality of the sense of smell</td></tr><tr><td style=\"white-space:nowrap\">HP:0009912<a name=\"hpo-HP.580009912\"> </a></td><td>Abnormality of the tragus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000537<a name=\"hpo-HP.580000537\"> </a></td><td>Epicanthus inversus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000565<a name=\"hpo-HP.580000565\"> </a></td><td>Esotropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000752<a name=\"hpo-HP.580000752\"> </a></td><td>Hyperactivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003186<a name=\"hpo-HP.580003186\"> </a></td><td>Inverted nipples</td></tr><tr><td style=\"white-space:nowrap\">HP:0012503<a name=\"hpo-HP.580012503\"> </a></td><td>Abnormality of the pituitary gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0100710<a name=\"hpo-HP.580100710\"> </a></td><td>Impulsivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0000357<a name=\"hpo-HP.580000357\"> </a></td><td>Abnormal location of ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0000820<a name=\"hpo-HP.580000820\"> </a></td><td>Abnormality of the thyroid gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0000828<a name=\"hpo-HP.580000828\"> </a></td><td>Abnormality of the parathyroid gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0000834<a name=\"hpo-HP.580000834\"> </a></td><td>Abnormality of the adrenal glands</td></tr><tr><td style=\"white-space:nowrap\">HP:0012093<a name=\"hpo-HP.580012093\"> </a></td><td>Abnormality of endocrine pancreas physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000269<a name=\"hpo-HP.580000269\"> </a></td><td>Prominent occiput</td></tr><tr><td style=\"white-space:nowrap\">HP:0000535<a name=\"hpo-HP.580000535\"> </a></td><td>Sparse and thin eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000639<a name=\"hpo-HP.580000639\"> </a></td><td>Nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000718<a name=\"hpo-HP.580000718\"> </a></td><td>Aggressive behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0000957<a name=\"hpo-HP.580000957\"> </a></td><td>Cafe-au-lait spot</td></tr><tr><td style=\"white-space:nowrap\">HP:0000256<a name=\"hpo-HP.580000256\"> </a></td><td>Macrocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000750<a name=\"hpo-HP.580000750\"> </a></td><td>Delayed speech and language development</td></tr><tr><td style=\"white-space:nowrap\">HP:0000963<a name=\"hpo-HP.580000963\"> </a></td><td>Thin skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0001260<a name=\"hpo-HP.580001260\"> </a></td><td>Dysarthria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002194<a name=\"hpo-HP.580002194\"> </a></td><td>Delayed gross motor development</td></tr><tr><td style=\"white-space:nowrap\">HP:0003196<a name=\"hpo-HP.580003196\"> </a></td><td>Short nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0001155<a name=\"hpo-HP.580001155\"> </a></td><td>Abnormality of the hand</td></tr><tr><td style=\"white-space:nowrap\">HP:0100022<a name=\"hpo-HP.580100022\"> </a></td><td>Abnormality of movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0010862<a name=\"hpo-HP.580010862\"> </a></td><td>Delayed fine motor development</td></tr><tr><td style=\"white-space:nowrap\">HP:0000343<a name=\"hpo-HP.580000343\"> </a></td><td>Long philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000717<a name=\"hpo-HP.580000717\"> </a></td><td>Autism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001883<a name=\"hpo-HP.580001883\"> </a></td><td>Talipes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002553<a name=\"hpo-HP.580002553\"> </a></td><td>Highly arched eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0007488<a name=\"hpo-HP.580007488\"> </a></td><td>Diffuse skin atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000822<a name=\"hpo-HP.580000822\"> </a></td><td>Hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001278<a name=\"hpo-HP.580001278\"> </a></td><td>Orthostatic hypotension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001944<a name=\"hpo-HP.580001944\"> </a></td><td>Dehydration</td></tr><tr><td style=\"white-space:nowrap\">HP:0001945<a name=\"hpo-HP.580001945\"> </a></td><td>Fever</td></tr><tr><td style=\"white-space:nowrap\">HP:0002019<a name=\"hpo-HP.580002019\"> </a></td><td>Constipation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002020<a name=\"hpo-HP.580002020\"> </a></td><td>Gastroesophageal reflux</td></tr><tr><td style=\"white-space:nowrap\">HP:0002027<a name=\"hpo-HP.580002027\"> </a></td><td>Abdominal pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0002718<a name=\"hpo-HP.580002718\"> </a></td><td>Recurrent bacterial infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0002841<a name=\"hpo-HP.580002841\"> </a></td><td>Recurrent fungal infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0004395<a name=\"hpo-HP.580004395\"> </a></td><td>Malnutrition</td></tr><tr><td style=\"white-space:nowrap\">HP:0009830<a name=\"hpo-HP.580009830\"> </a></td><td>Peripheral neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000126<a name=\"hpo-HP.580000126\"> </a></td><td>Hydronephrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000519<a name=\"hpo-HP.580000519\"> </a></td><td>Developmental cataract</td></tr><tr><td style=\"white-space:nowrap\">HP:0000648<a name=\"hpo-HP.580000648\"> </a></td><td>Optic atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001053<a name=\"hpo-HP.580001053\"> </a></td><td>Hypopigmented skin patches</td></tr><tr><td style=\"white-space:nowrap\">HP:0001087<a name=\"hpo-HP.580001087\"> </a></td><td>Developmental glaucoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0002119<a name=\"hpo-HP.580002119\"> </a></td><td>Ventriculomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002280<a name=\"hpo-HP.580002280\"> </a></td><td>Enlarged cisterna magna</td></tr><tr><td style=\"white-space:nowrap\">HP:0003298<a name=\"hpo-HP.580003298\"> </a></td><td>Spina bifida occulta</td></tr><tr><td style=\"white-space:nowrap\">HP:0004467<a name=\"hpo-HP.580004467\"> </a></td><td>Preauricular pit</td></tr><tr><td style=\"white-space:nowrap\">HP:0008511<a name=\"hpo-HP.580008511\"> </a></td><td>Central posterior corneal opacity</td></tr><tr><td style=\"white-space:nowrap\">HP:0010780<a name=\"hpo-HP.580010780\"> </a></td><td>Hyperacusis</td></tr><tr><td style=\"white-space:nowrap\">HP:0030048<a name=\"hpo-HP.580030048\"> </a></td><td>Colpocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0100335<a name=\"hpo-HP.580100335\"> </a></td><td>Non-midline cleft lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000525<a name=\"hpo-HP.580000525\"> </a></td><td>Abnormality iris morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002719<a name=\"hpo-HP.580002719\"> </a></td><td>Recurrent infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0000153<a name=\"hpo-HP.580000153\"> </a></td><td>Abnormality of the mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001903<a name=\"hpo-HP.580001903\"> </a></td><td>Anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002094<a name=\"hpo-HP.580002094\"> </a></td><td>Dyspnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002206<a name=\"hpo-HP.580002206\"> </a></td><td>Pulmonary fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002789<a name=\"hpo-HP.580002789\"> </a></td><td>Tachypnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002793<a name=\"hpo-HP.580002793\"> </a></td><td>Abnormal pattern of respiration</td></tr><tr><td style=\"white-space:nowrap\">HP:0003565<a name=\"hpo-HP.580003565\"> </a></td><td>Elevated erythrocyte sedimentation rate</td></tr><tr><td style=\"white-space:nowrap\">HP:0006517<a name=\"hpo-HP.580006517\"> </a></td><td>Intraalveolar phospholipid accumulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0006530<a name=\"hpo-HP.580006530\"> </a></td><td>Interstitial pulmonary abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0100759<a name=\"hpo-HP.580100759\"> </a></td><td>Clubbing of fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0002103<a name=\"hpo-HP.580002103\"> </a></td><td>Abnormal pleura morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001596<a name=\"hpo-HP.580001596\"> </a></td><td>Alopecia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001882<a name=\"hpo-HP.580001882\"> </a></td><td>Leukopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002013<a name=\"hpo-HP.580002013\"> </a></td><td>Vomiting</td></tr><tr><td style=\"white-space:nowrap\">HP:0002028<a name=\"hpo-HP.580002028\"> </a></td><td>Chronic diarrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002573<a name=\"hpo-HP.580002573\"> </a></td><td>Hematochezia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002960<a name=\"hpo-HP.580002960\"> </a></td><td>Autoimmunity</td></tr><tr><td style=\"white-space:nowrap\">HP:0005387<a name=\"hpo-HP.580005387\"> </a></td><td>Combined immunodeficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0011109<a name=\"hpo-HP.580011109\"> </a></td><td>Chronic sinusitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004429<a name=\"hpo-HP.580004429\"> </a></td><td>Recurrent viral infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0000280<a name=\"hpo-HP.580000280\"> </a></td><td>Coarse facial features</td></tr><tr><td style=\"white-space:nowrap\">HP:0000294<a name=\"hpo-HP.580000294\"> </a></td><td>Low anterior hairline</td></tr><tr><td style=\"white-space:nowrap\">HP:0000577<a name=\"hpo-HP.580000577\"> </a></td><td>Exotropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001873<a name=\"hpo-HP.580001873\"> </a></td><td>Thrombocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002011<a name=\"hpo-HP.580002011\"> </a></td><td>Morphological central nervous system abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0006610<a name=\"hpo-HP.580006610\"> </a></td><td>Wide intermamillary distance</td></tr><tr><td style=\"white-space:nowrap\">HP:0011231<a name=\"hpo-HP.580011231\"> </a></td><td>Prominent eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0012718<a name=\"hpo-HP.580012718\"> </a></td><td>Morphological abnormality of the gastrointestinal tract</td></tr><tr><td style=\"white-space:nowrap\">HP:0002024<a name=\"hpo-HP.580002024\"> </a></td><td>Malabsorption</td></tr><tr><td style=\"white-space:nowrap\">HP:0001394<a name=\"hpo-HP.580001394\"> </a></td><td>Cirrhosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001414<a name=\"hpo-HP.580001414\"> </a></td><td>Microvesicular hepatic steatosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001403<a name=\"hpo-HP.580001403\"> </a></td><td>Macrovesicular hepatic steatosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001410<a name=\"hpo-HP.580001410\"> </a></td><td>Decreased liver function</td></tr><tr><td style=\"white-space:nowrap\">HP:0001409<a name=\"hpo-HP.580001409\"> </a></td><td>Portal hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0001744<a name=\"hpo-HP.580001744\"> </a></td><td>Splenomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0003394<a name=\"hpo-HP.580003394\"> </a></td><td>Muscle spasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0003750<a name=\"hpo-HP.580003750\"> </a></td><td>Increased muscle fatiguability</td></tr><tr><td style=\"white-space:nowrap\">HP:0002123<a name=\"hpo-HP.580002123\"> </a></td><td>Generalized myoclonic seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0002219<a name=\"hpo-HP.580002219\"> </a></td><td>Facial hypertrichosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000831<a name=\"hpo-HP.580000831\"> </a></td><td>Insulin-resistant diabetes mellitus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001891<a name=\"hpo-HP.580001891\"> </a></td><td>Iron deficiency anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001264<a name=\"hpo-HP.580001264\"> </a></td><td>Spastic diplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002313<a name=\"hpo-HP.580002313\"> </a></td><td>Spastic paraparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001347<a name=\"hpo-HP.580001347\"> </a></td><td>Hyperreflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002460<a name=\"hpo-HP.580002460\"> </a></td><td>Distal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0000763<a name=\"hpo-HP.580000763\"> </a></td><td>Sensory neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001268<a name=\"hpo-HP.580001268\"> </a></td><td>Mental deterioration</td></tr><tr><td style=\"white-space:nowrap\">HP:0002169<a name=\"hpo-HP.580002169\"> </a></td><td>Clonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001332<a name=\"hpo-HP.580001332\"> </a></td><td>Dystonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100716<a name=\"hpo-HP.580100716\"> </a></td><td>Self-injurious behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0000602<a name=\"hpo-HP.580000602\"> </a></td><td>Ophthalmoplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001251<a name=\"hpo-HP.580001251\"> </a></td><td>Ataxia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000776<a name=\"hpo-HP.580000776\"> </a></td><td>Congenital diaphragmatic hernia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000410<a name=\"hpo-HP.580000410\"> </a></td><td>Mixed hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000510<a name=\"hpo-HP.580000510\"> </a></td><td>Rod-cone dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0004437<a name=\"hpo-HP.580004437\"> </a></td><td>Cranial hyperostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011001<a name=\"hpo-HP.580011001\"> </a></td><td>Increased bone mineral density</td></tr><tr><td style=\"white-space:nowrap\">HP:0000956<a name=\"hpo-HP.580000956\"> </a></td><td>Acanthosis nigricans</td></tr><tr><td style=\"white-space:nowrap\">HP:0000958<a name=\"hpo-HP.580000958\"> </a></td><td>Dry skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0000580<a name=\"hpo-HP.580000580\"> </a></td><td>Pigmentary retinopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000649<a name=\"hpo-HP.580000649\"> </a></td><td>Abnormality of visual evoked potentials</td></tr><tr><td style=\"white-space:nowrap\">HP:0000657<a name=\"hpo-HP.580000657\"> </a></td><td>Oculomotor apraxia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000479<a name=\"hpo-HP.580000479\"> </a></td><td>Abnormal retinal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001317<a name=\"hpo-HP.580001317\"> </a></td><td>Abnormal cerebellum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001533<a name=\"hpo-HP.580001533\"> </a></td><td>Slender build</td></tr><tr><td style=\"white-space:nowrap\">HP:0001629<a name=\"hpo-HP.580001629\"> </a></td><td>Ventricular septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0000703<a name=\"hpo-HP.580000703\"> </a></td><td>Dentinogenesis imperfecta</td></tr><tr><td style=\"white-space:nowrap\">HP:0000914<a name=\"hpo-HP.580000914\"> </a></td><td>Shield chest</td></tr><tr><td style=\"white-space:nowrap\">HP:0001500<a name=\"hpo-HP.580001500\"> </a></td><td>Broad finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0003086<a name=\"hpo-HP.580003086\"> </a></td><td>Acromesomelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003416<a name=\"hpo-HP.580003416\"> </a></td><td>Spinal canal stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002815<a name=\"hpo-HP.580002815\"> </a></td><td>Abnormality of the knee</td></tr><tr><td style=\"white-space:nowrap\">HP:0002992<a name=\"hpo-HP.580002992\"> </a></td><td>Abnormality of tibia morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001639<a name=\"hpo-HP.580001639\"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003236<a name=\"hpo-HP.580003236\"> </a></td><td>Elevated serum creatine kinase</td></tr><tr><td style=\"white-space:nowrap\">HP:0001369<a name=\"hpo-HP.580001369\"> </a></td><td>Arthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003560<a name=\"hpo-HP.580003560\"> </a></td><td>Muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003974<a name=\"hpo-HP.580003974\"> </a></td><td>Absent radius</td></tr><tr><td style=\"white-space:nowrap\">HP:0002818<a name=\"hpo-HP.580002818\"> </a></td><td>Abnormality of the radius</td></tr><tr><td style=\"white-space:nowrap\">HP:0001561<a name=\"hpo-HP.580001561\"> </a></td><td>Polyhydramnios</td></tr><tr><td style=\"white-space:nowrap\">HP:0002299<a name=\"hpo-HP.580002299\"> </a></td><td>Brittle hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0002208<a name=\"hpo-HP.580002208\"> </a></td><td>Coarse hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0002213<a name=\"hpo-HP.580002213\"> </a></td><td>Fine hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0000522<a name=\"hpo-HP.580000522\"> </a></td><td>Alacrima</td></tr><tr><td style=\"white-space:nowrap\">HP:0100704<a name=\"hpo-HP.580100704\"> </a></td><td>Cerebral visual impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0012713<a name=\"hpo-HP.580012713\"> </a></td><td>Moderate hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0002307<a name=\"hpo-HP.580002307\"> </a></td><td>Drooling</td></tr><tr><td style=\"white-space:nowrap\">HP:0002714<a name=\"hpo-HP.580002714\"> </a></td><td>Downturned corners of mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000191<a name=\"hpo-HP.580000191\"> </a></td><td>Accessory oral frenulum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000158<a name=\"hpo-HP.580000158\"> </a></td><td>Macroglossia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012020<a name=\"hpo-HP.580012020\"> </a></td><td>Right aortic arch</td></tr><tr><td style=\"white-space:nowrap\">HP:0002104<a name=\"hpo-HP.580002104\"> </a></td><td>Apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0000598<a name=\"hpo-HP.580000598\"> </a></td><td>Abnormality of the ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0007874<a name=\"hpo-HP.580007874\"> </a></td><td>Almond-shaped palpebral fissure</td></tr><tr><td style=\"white-space:nowrap\">HP:0010804<a name=\"hpo-HP.580010804\"> </a></td><td>Tented upper lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000885<a name=\"hpo-HP.580000885\"> </a></td><td>Broad ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000768<a name=\"hpo-HP.580000768\"> </a></td><td>Pectus carinatum</td></tr><tr><td style=\"white-space:nowrap\">HP:0001680<a name=\"hpo-HP.580001680\"> </a></td><td>Coarctation of aorta</td></tr><tr><td style=\"white-space:nowrap\">HP:0000687<a name=\"hpo-HP.580000687\"> </a></td><td>Widely spaced teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000047<a name=\"hpo-HP.580000047\"> </a></td><td>Hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0001943<a name=\"hpo-HP.580001943\"> </a></td><td>Hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012369<a name=\"hpo-HP.580012369\"> </a></td><td>Abnormality of malar bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0009900<a name=\"hpo-HP.580009900\"> </a></td><td>Unilateral deafness</td></tr><tr><td style=\"white-space:nowrap\">HP:0000023<a name=\"hpo-HP.580000023\"> </a></td><td>Inguinal hernia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000074<a name=\"hpo-HP.580000074\"> </a></td><td>Ureteropelvic junction obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001800<a name=\"hpo-HP.580001800\"> </a></td><td>Hypoplastic toenails</td></tr><tr><td style=\"white-space:nowrap\">HP:0001804<a name=\"hpo-HP.580001804\"> </a></td><td>Hypoplastic fingernail</td></tr><tr><td style=\"white-space:nowrap\">HP:0002949<a name=\"hpo-HP.580002949\"> </a></td><td>Fused cervical vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0008050<a name=\"hpo-HP.580008050\"> </a></td><td>Abnormality of the palpebral fissures</td></tr><tr><td style=\"white-space:nowrap\">HP:0008577<a name=\"hpo-HP.580008577\"> </a></td><td>Underfolded helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0008589<a name=\"hpo-HP.580008589\"> </a></td><td>Hypoplastic helices</td></tr><tr><td style=\"white-space:nowrap\">HP:0010863<a name=\"hpo-HP.580010863\"> </a></td><td>Receptive language delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0002282<a name=\"hpo-HP.580002282\"> </a></td><td>Gray matter heterotopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002085<a name=\"hpo-HP.580002085\"> </a></td><td>Occipital encephalocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0001057<a name=\"hpo-HP.580001057\"> </a></td><td>Aplasia cutis congenita</td></tr><tr><td style=\"white-space:nowrap\">HP:0000211<a name=\"hpo-HP.580000211\"> </a></td><td>Trismus</td></tr><tr><td style=\"white-space:nowrap\">HP:0008422<a name=\"hpo-HP.580008422\"> </a></td><td>Vertebral wedging</td></tr><tr><td style=\"white-space:nowrap\">HP:0003170<a name=\"hpo-HP.580003170\"> </a></td><td>Abnormality of the acetabulum</td></tr><tr><td style=\"white-space:nowrap\">HP:0003272<a name=\"hpo-HP.580003272\"> </a></td><td>Abnormality of the hip bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0003028<a name=\"hpo-HP.580003028\"> </a></td><td>Abnormality of the ankles</td></tr><tr><td style=\"white-space:nowrap\">HP:0003301<a name=\"hpo-HP.580003301\"> </a></td><td>Irregular vertebral endplates</td></tr><tr><td style=\"white-space:nowrap\">HP:0010508<a name=\"hpo-HP.580010508\"> </a></td><td>Metatarsus valgus</td></tr><tr><td style=\"white-space:nowrap\">HP:0009811<a name=\"hpo-HP.580009811\"> </a></td><td>Abnormality of the elbow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000736<a name=\"hpo-HP.580000736\"> </a></td><td>Short attention span</td></tr><tr><td style=\"white-space:nowrap\">HP:0002912<a name=\"hpo-HP.580002912\"> </a></td><td>Methylmalonic acidemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001941<a name=\"hpo-HP.580001941\"> </a></td><td>Acidosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001992<a name=\"hpo-HP.580001992\"> </a></td><td>Organic aciduria</td></tr><tr><td style=\"white-space:nowrap\">HP:0009027<a name=\"hpo-HP.580009027\"> </a></td><td>Foot dorsiflexor weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002063<a name=\"hpo-HP.580002063\"> </a></td><td>Rigidity</td></tr><tr><td style=\"white-space:nowrap\">HP:0000384<a name=\"hpo-HP.580000384\"> </a></td><td>Preauricular skin tag</td></tr><tr><td style=\"white-space:nowrap\">HP:0200046<a name=\"hpo-HP.580200046\"> </a></td><td>Cat cry</td></tr><tr><td style=\"white-space:nowrap\">HP:0001357<a name=\"hpo-HP.580001357\"> </a></td><td>Plagiocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000670<a name=\"hpo-HP.580000670\"> </a></td><td>Carious teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0011090<a name=\"hpo-HP.580011090\"> </a></td><td>Fused teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0012810<a name=\"hpo-HP.580012810\"> </a></td><td>Wide nasal base</td></tr><tr><td style=\"white-space:nowrap\">HP:0010296<a name=\"hpo-HP.580010296\"> </a></td><td>Ankyloglossia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001636<a name=\"hpo-HP.580001636\"> </a></td><td>Tetralogy of Fallot</td></tr><tr><td style=\"white-space:nowrap\">HP:0001305<a name=\"hpo-HP.580001305\"> </a></td><td>Dandy-Walker malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000238<a name=\"hpo-HP.580000238\"> </a></td><td>Hydrocephalus</td></tr><tr><td style=\"white-space:nowrap\">HP:0005469<a name=\"hpo-HP.580005469\"> </a></td><td>Flat occiput</td></tr><tr><td style=\"white-space:nowrap\">HP:0000270<a name=\"hpo-HP.580000270\"> </a></td><td>Delayed cranial suture closure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000239<a name=\"hpo-HP.580000239\"> </a></td><td>Large fontanelles</td></tr><tr><td style=\"white-space:nowrap\">HP:0010537<a name=\"hpo-HP.580010537\"> </a></td><td>Wide cranial sutures</td></tr><tr><td style=\"white-space:nowrap\">HP:0002217<a name=\"hpo-HP.580002217\"> </a></td><td>Slow-growing hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0000587<a name=\"hpo-HP.580000587\"> </a></td><td>Abnormality of the optic nerve</td></tr><tr><td style=\"white-space:nowrap\">HP:0005989<a name=\"hpo-HP.580005989\"> </a></td><td>Redundant neck skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0010775<a name=\"hpo-HP.580010775\"> </a></td><td>Vascular ring</td></tr><tr><td style=\"white-space:nowrap\">HP:0002779<a name=\"hpo-HP.580002779\"> </a></td><td>Tracheomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002827<a name=\"hpo-HP.580002827\"> </a></td><td>Hip dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001302<a name=\"hpo-HP.580001302\"> </a></td><td>Pachygyria</td></tr><tr><td style=\"white-space:nowrap\">HP:0007362<a name=\"hpo-HP.580007362\"> </a></td><td>Aplasia/Hypoplasia of the brainstem</td></tr><tr><td style=\"white-space:nowrap\">HP:0001558<a name=\"hpo-HP.580001558\"> </a></td><td>Decreased fetal movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0010878<a name=\"hpo-HP.580010878\"> </a></td><td>Fetal cystic hygroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0011398<a name=\"hpo-HP.580011398\"> </a></td><td>Central hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002071<a name=\"hpo-HP.580002071\"> </a></td><td>Abnormality of extrapyramidal motor function</td></tr><tr><td style=\"white-space:nowrap\">HP:0000826<a name=\"hpo-HP.580000826\"> </a></td><td>Precocious puberty</td></tr><tr><td style=\"white-space:nowrap\">HP:0000014<a name=\"hpo-HP.580000014\"> </a></td><td>Abnormality of the bladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0005037<a name=\"hpo-HP.580005037\"> </a></td><td>Proximal radio-ulnar synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100543<a name=\"hpo-HP.580100543\"> </a></td><td>Cognitive impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000481<a name=\"hpo-HP.580000481\"> </a></td><td>Abnormal cornea morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000076<a name=\"hpo-HP.580000076\"> </a></td><td>Vesicoureteral reflux</td></tr><tr><td style=\"white-space:nowrap\">HP:0000297<a name=\"hpo-HP.580000297\"> </a></td><td>Facial hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000391<a name=\"hpo-HP.580000391\"> </a></td><td>Thickened helices</td></tr><tr><td style=\"white-space:nowrap\">HP:0001162<a name=\"hpo-HP.580001162\"> </a></td><td>Postaxial hand polydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001385<a name=\"hpo-HP.580001385\"> </a></td><td>Hip dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002342<a name=\"hpo-HP.580002342\"> </a></td><td>Intellectual disability, moderate</td></tr><tr><td style=\"white-space:nowrap\">HP:0003191<a name=\"hpo-HP.580003191\"> </a></td><td>Cleft ala nasi</td></tr><tr><td style=\"white-space:nowrap\">HP:0009765<a name=\"hpo-HP.580009765\"> </a></td><td>Low hanging columella</td></tr><tr><td style=\"white-space:nowrap\">HP:0010297<a name=\"hpo-HP.580010297\"> </a></td><td>Bifid tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0011330<a name=\"hpo-HP.580011330\"> </a></td><td>Metopic synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012804<a name=\"hpo-HP.580012804\"> </a></td><td>Corneal ulceration</td></tr><tr><td style=\"white-space:nowrap\">HP:0010485<a name=\"hpo-HP.580010485\"> </a></td><td>Hyperextensibility at elbow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000609<a name=\"hpo-HP.580000609\"> </a></td><td>Optic nerve hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001176<a name=\"hpo-HP.580001176\"> </a></td><td>Large hands</td></tr><tr><td style=\"white-space:nowrap\">HP:0004233<a name=\"hpo-HP.580004233\"> </a></td><td>Advanced ossification of carpal bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0100842<a name=\"hpo-HP.580100842\"> </a></td><td>Septo-optic dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002034<a name=\"hpo-HP.580002034\"> </a></td><td>Abnormality of the rectum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002283<a name=\"hpo-HP.580002283\"> </a></td><td>Global brain atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003115<a name=\"hpo-HP.580003115\"> </a></td><td>Abnormal EKG</td></tr><tr><td style=\"white-space:nowrap\">HP:0002577<a name=\"hpo-HP.580002577\"> </a></td><td>Abnormal stomach morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002539<a name=\"hpo-HP.580002539\"> </a></td><td>Cortical dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006818<a name=\"hpo-HP.580006818\"> </a></td><td>4-layered lissencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000593<a name=\"hpo-HP.580000593\"> </a></td><td>Abnormal anterior chamber morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000179<a name=\"hpo-HP.580000179\"> </a></td><td>Thick lower lip vermilion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002002<a name=\"hpo-HP.580002002\"> </a></td><td>Deep philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0009931<a name=\"hpo-HP.580009931\"> </a></td><td>Enlarged naris</td></tr><tr><td style=\"white-space:nowrap\">HP:0002948<a name=\"hpo-HP.580002948\"> </a></td><td>Vertebral fusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002937<a name=\"hpo-HP.580002937\"> </a></td><td>Hemivertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0002308<a name=\"hpo-HP.580002308\"> </a></td><td>Arnold-Chiari malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011320<a name=\"hpo-HP.580011320\"> </a></td><td>Unilambdoid synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002781<a name=\"hpo-HP.580002781\"> </a></td><td>Upper airway obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001363<a name=\"hpo-HP.580001363\"> </a></td><td>Craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000204<a name=\"hpo-HP.580000204\"> </a></td><td>Cleft upper lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001738<a name=\"hpo-HP.580001738\"> </a></td><td>Exocrine pancreatic insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002823<a name=\"hpo-HP.580002823\"> </a></td><td>Abnormality of femur morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000823<a name=\"hpo-HP.580000823\"> </a></td><td>Delayed puberty</td></tr><tr><td style=\"white-space:nowrap\">HP:0100279<a name=\"hpo-HP.580100279\"> </a></td><td>Ulcerative colitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003834<a name=\"hpo-HP.580003834\"> </a></td><td>Shoulder dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001065<a name=\"hpo-HP.580001065\"> </a></td><td>Striae distensae</td></tr><tr><td style=\"white-space:nowrap\">HP:0000448<a name=\"hpo-HP.580000448\"> </a></td><td>Prominent nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0000554<a name=\"hpo-HP.580000554\"> </a></td><td>Uveitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001006<a name=\"hpo-HP.580001006\"> </a></td><td>obsolete Hypotrichosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000501<a name=\"hpo-HP.580000501\"> </a></td><td>Glaucoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0000262<a name=\"hpo-HP.580000262\"> </a></td><td>Turricephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000729<a name=\"hpo-HP.580000729\"> </a></td><td>Autistic behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0010800<a name=\"hpo-HP.580010800\"> </a></td><td>Absent cupid's bow</td></tr><tr><td style=\"white-space:nowrap\">HP:0010808<a name=\"hpo-HP.580010808\"> </a></td><td>Protruding tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0009927<a name=\"hpo-HP.580009927\"> </a></td><td>Aplasia of the nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0100539<a name=\"hpo-HP.580100539\"> </a></td><td>Periorbital edema</td></tr><tr><td style=\"white-space:nowrap\">HP:0000629<a name=\"hpo-HP.580000629\"> </a></td><td>Periorbital fullness</td></tr><tr><td style=\"white-space:nowrap\">HP:0000178<a name=\"hpo-HP.580000178\"> </a></td><td>Abnormality of lower lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000168<a name=\"hpo-HP.580000168\"> </a></td><td>Abnormality of the gingiva</td></tr><tr><td style=\"white-space:nowrap\">HP:0001022<a name=\"hpo-HP.580001022\"> </a></td><td>Albinism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000177<a name=\"hpo-HP.580000177\"> </a></td><td>Abnormality of upper lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001337<a name=\"hpo-HP.580001337\"> </a></td><td>Tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002135<a name=\"hpo-HP.580002135\"> </a></td><td>Basal ganglia calcification</td></tr><tr><td style=\"white-space:nowrap\">HP:0002352<a name=\"hpo-HP.580002352\"> </a></td><td>Leukoencephalopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002514<a name=\"hpo-HP.580002514\"> </a></td><td>Cerebral calcification</td></tr><tr><td style=\"white-space:nowrap\">HP:0010576<a name=\"hpo-HP.580010576\"> </a></td><td>Intracranial cystic lesion</td></tr><tr><td style=\"white-space:nowrap\">HP:0001622<a name=\"hpo-HP.580001622\"> </a></td><td>Premature birth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002415<a name=\"hpo-HP.580002415\"> </a></td><td>Leukodystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001320<a name=\"hpo-HP.580001320\"> </a></td><td>Cerebellar vermis hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001773<a name=\"hpo-HP.580001773\"> </a></td><td>Short foot</td></tr><tr><td style=\"white-space:nowrap\">HP:0002750<a name=\"hpo-HP.580002750\"> </a></td><td>Delayed skeletal maturation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004415<a name=\"hpo-HP.580004415\"> </a></td><td>Pulmonary artery stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012741<a name=\"hpo-HP.580012741\"> </a></td><td>Unilateral cryptorchidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000036<a name=\"hpo-HP.580000036\"> </a></td><td>Abnormality of the penis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002408<a name=\"hpo-HP.580002408\"> </a></td><td>Cerebral arteriovenous malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0007457<a name=\"hpo-HP.580007457\"> </a></td><td>Prominent veins on trunk</td></tr><tr><td style=\"white-space:nowrap\">HP:0000378<a name=\"hpo-HP.580000378\"> </a></td><td>Cupped ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0000396<a name=\"hpo-HP.580000396\"> </a></td><td>Overfolded helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0000035<a name=\"hpo-HP.580000035\"> </a></td><td>Abnormal testis morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009895<a name=\"hpo-HP.580009895\"> </a></td><td>Abnormality of the crus of the helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0000034<a name=\"hpo-HP.580000034\"> </a></td><td>Hydrocele testis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000722<a name=\"hpo-HP.580000722\"> </a></td><td>Obsessive-compulsive behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0000845<a name=\"hpo-HP.580000845\"> </a></td><td>Growth hormone excess</td></tr><tr><td style=\"white-space:nowrap\">HP:0100829<a name=\"hpo-HP.580100829\"> </a></td><td>Galactorrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001578<a name=\"hpo-HP.580001578\"> </a></td><td>Increased circulating cortisol level</td></tr><tr><td style=\"white-space:nowrap\">HP:0000786<a name=\"hpo-HP.580000786\"> </a></td><td>Primary amenorrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0001701<a name=\"hpo-HP.580001701\"> </a></td><td>Pericarditis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002076<a name=\"hpo-HP.580002076\"> </a></td><td>Migraine</td></tr><tr><td style=\"white-space:nowrap\">HP:0004755<a name=\"hpo-HP.580004755\"> </a></td><td>Supraventricular tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010522<a name=\"hpo-HP.580010522\"> </a></td><td>Dyslexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004313<a name=\"hpo-HP.580004313\"> </a></td><td>Decreased circulating antibody level</td></tr><tr><td style=\"white-space:nowrap\">HP:0000011<a name=\"hpo-HP.580000011\"> </a></td><td>Neurogenic bladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0000641<a name=\"hpo-HP.580000641\"> </a></td><td>Dysmetric saccades</td></tr><tr><td style=\"white-space:nowrap\">HP:0007772<a name=\"hpo-HP.580007772\"> </a></td><td>Impaired smooth pursuit</td></tr><tr><td style=\"white-space:nowrap\">HP:0001583<a name=\"hpo-HP.580001583\"> </a></td><td>Rotary nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0010544<a name=\"hpo-HP.580010544\"> </a></td><td>Vertical nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012735<a name=\"hpo-HP.580012735\"> </a></td><td>Cough</td></tr><tr><td style=\"white-space:nowrap\">HP:0002075<a name=\"hpo-HP.580002075\"> </a></td><td>Dysdiadochokinesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0007256<a name=\"hpo-HP.580007256\"> </a></td><td>Abnormal pyramidal sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0001257<a name=\"hpo-HP.580001257\"> </a></td><td>Spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002321<a name=\"hpo-HP.580002321\"> </a></td><td>Vertigo</td></tr><tr><td style=\"white-space:nowrap\">HP:0002384<a name=\"hpo-HP.580002384\"> </a></td><td>Focal impaired awareness seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0011376<a name=\"hpo-HP.580011376\"> </a></td><td>Morphological abnormality of the vestibule of the inner ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0002326<a name=\"hpo-HP.580002326\"> </a></td><td>Transient ischemic attack</td></tr><tr><td style=\"white-space:nowrap\">HP:0005584<a name=\"hpo-HP.580005584\"> </a></td><td>Renal cell carcinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0003124<a name=\"hpo-HP.580003124\"> </a></td><td>Hypercholesterolemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003002<a name=\"hpo-HP.580003002\"> </a></td><td>Breast carcinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0004953<a name=\"hpo-HP.580004953\"> </a></td><td>obsolete Dilatation of abdominal aorta</td></tr><tr><td style=\"white-space:nowrap\">HP:0004944<a name=\"hpo-HP.580004944\"> </a></td><td>Dilatation of the cerebral artery</td></tr><tr><td style=\"white-space:nowrap\">HP:0000100<a name=\"hpo-HP.580000100\"> </a></td><td>Nephrotic syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0002783<a name=\"hpo-HP.580002783\"> </a></td><td>Recurrent lower respiratory tract infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0003470<a name=\"hpo-HP.580003470\"> </a></td><td>Paralysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006597<a name=\"hpo-HP.580006597\"> </a></td><td>Diaphragmatic paralysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008151<a name=\"hpo-HP.580008151\"> </a></td><td>Prolonged prothrombin time</td></tr><tr><td style=\"white-space:nowrap\">HP:0010628<a name=\"hpo-HP.580010628\"> </a></td><td>Facial palsy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011892<a name=\"hpo-HP.580011892\"> </a></td><td>Low levels of vitamin K</td></tr><tr><td style=\"white-space:nowrap\">HP:0001075<a name=\"hpo-HP.580001075\"> </a></td><td>Atrophic scars</td></tr><tr><td style=\"white-space:nowrap\">HP:0001816<a name=\"hpo-HP.580001816\"> </a></td><td>Thin nail</td></tr><tr><td style=\"white-space:nowrap\">HP:0002216<a name=\"hpo-HP.580002216\"> </a></td><td>Premature graying of hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0003401<a name=\"hpo-HP.580003401\"> </a></td><td>Paresthesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100134<a name=\"hpo-HP.580100134\"> </a></td><td>Abnormality of the axillary hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0100797<a name=\"hpo-HP.580100797\"> </a></td><td>Toenail dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010461<a name=\"hpo-HP.580010461\"> </a></td><td>Abnormality of the male genitalia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000044<a name=\"hpo-HP.580000044\"> </a></td><td>Hypogonadotropic hypogonadism</td></tr><tr><td style=\"white-space:nowrap\">HP:0100568<a name=\"hpo-HP.580100568\"> </a></td><td>Neoplasm of the endocrine system</td></tr><tr><td style=\"white-space:nowrap\">HP:0001646<a name=\"hpo-HP.580001646\"> </a></td><td>Abnormal aortic valve morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000813<a name=\"hpo-HP.580000813\"> </a></td><td>Bicornuate uterus</td></tr><tr><td style=\"white-space:nowrap\">HP:0004380<a name=\"hpo-HP.580004380\"> </a></td><td>Aortic valve calcification</td></tr><tr><td style=\"white-space:nowrap\">HP:0001650<a name=\"hpo-HP.580001650\"> </a></td><td>Aortic valve stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000073<a name=\"hpo-HP.580000073\"> </a></td><td>Ureteral duplication</td></tr><tr><td style=\"white-space:nowrap\">HP:0100651<a name=\"hpo-HP.580100651\"> </a></td><td>Type I diabetes mellitus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000819<a name=\"hpo-HP.580000819\"> </a></td><td>Diabetes mellitus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000573<a name=\"hpo-HP.580000573\"> </a></td><td>Retinal hemorrhage</td></tr><tr><td style=\"white-space:nowrap\">HP:0005264<a name=\"hpo-HP.580005264\"> </a></td><td>Abnormality of the gallbladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0000475<a name=\"hpo-HP.580000475\"> </a></td><td>Broad neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0000089<a name=\"hpo-HP.580000089\"> </a></td><td>Renal hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000921<a name=\"hpo-HP.580000921\"> </a></td><td>Missing ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0001789<a name=\"hpo-HP.580001789\"> </a></td><td>Hydrops fetalis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002089<a name=\"hpo-HP.580002089\"> </a></td><td>Pulmonary hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003422<a name=\"hpo-HP.580003422\"> </a></td><td>Vertebral segmentation defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0002323<a name=\"hpo-HP.580002323\"> </a></td><td>Anencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000341<a name=\"hpo-HP.580000341\"> </a></td><td>Narrow forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0002869<a name=\"hpo-HP.580002869\"> </a></td><td>Flared iliac wings</td></tr><tr><td style=\"white-space:nowrap\">HP:0003100<a name=\"hpo-HP.580003100\"> </a></td><td>Slender long bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0003275<a name=\"hpo-HP.580003275\"> </a></td><td>Narrow pelvis bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0009891<a name=\"hpo-HP.580009891\"> </a></td><td>Underdeveloped supraorbital ridges</td></tr><tr><td style=\"white-space:nowrap\">HP:0011039<a name=\"hpo-HP.580011039\"> </a></td><td>Abnormality of the helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0008572<a name=\"hpo-HP.580008572\"> </a></td><td>External ear malformation</td></tr><tr><td style=\"white-space:nowrap\">HP:0009738<a name=\"hpo-HP.580009738\"> </a></td><td>Abnormality of the antihelix</td></tr><tr><td style=\"white-space:nowrap\">HP:0011328<a name=\"hpo-HP.580011328\"> </a></td><td>Abnormality of fontanelles</td></tr><tr><td style=\"white-space:nowrap\">HP:0012155<a name=\"hpo-HP.580012155\"> </a></td><td>Decreased corneal sensation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004602<a name=\"hpo-HP.580004602\"> </a></td><td>Cervical C2/C3 vertebral fusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002997<a name=\"hpo-HP.580002997\"> </a></td><td>Abnormality of the ulna</td></tr><tr><td style=\"white-space:nowrap\">HP:0009777<a name=\"hpo-HP.580009777\"> </a></td><td>Absent thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0002893<a name=\"hpo-HP.580002893\"> </a></td><td>Pituitary adenoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0040278<a name=\"hpo-HP.580040278\"> </a></td><td>Prolactinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001555<a name=\"hpo-HP.580001555\"> </a></td><td>Asymmetry of the thorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0000902<a name=\"hpo-HP.580000902\"> </a></td><td>Rib fusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002164<a name=\"hpo-HP.580002164\"> </a></td><td>Nail dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011314<a name=\"hpo-HP.580011314\"> </a></td><td>Abnormality of long bone morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002867<a name=\"hpo-HP.580002867\"> </a></td><td>Abnormality of the ilium</td></tr><tr><td style=\"white-space:nowrap\">HP:0000774<a name=\"hpo-HP.580000774\"> </a></td><td>Narrow chest</td></tr><tr><td style=\"white-space:nowrap\">HP:0006482<a name=\"hpo-HP.580006482\"> </a></td><td>Abnormality of dental morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0004383<a name=\"hpo-HP.580004383\"> </a></td><td>Hypoplastic left heart</td></tr><tr><td style=\"white-space:nowrap\">HP:0002015<a name=\"hpo-HP.580002015\"> </a></td><td>Dysphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0500093<a name=\"hpo-HP.580500093\"> </a></td><td>Food allergy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001519<a name=\"hpo-HP.580001519\"> </a></td><td>Disproportionate tall stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0003179<a name=\"hpo-HP.580003179\"> </a></td><td>Protrusio acetabuli</td></tr><tr><td style=\"white-space:nowrap\">HP:0007385<a name=\"hpo-HP.580007385\"> </a></td><td>Aplasia cutis congenita of scalp</td></tr><tr><td style=\"white-space:nowrap\">HP:0000716<a name=\"hpo-HP.580000716\"> </a></td><td>Depressivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0012583<a name=\"hpo-HP.580012583\"> </a></td><td>Unilateral renal hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000618<a name=\"hpo-HP.580000618\"> </a></td><td>Blindness</td></tr><tr><td style=\"white-space:nowrap\">HP:0001004<a name=\"hpo-HP.580001004\"> </a></td><td>Lymphedema</td></tr><tr><td style=\"white-space:nowrap\">HP:0002652<a name=\"hpo-HP.580002652\"> </a></td><td>Skeletal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012520<a name=\"hpo-HP.580012520\"> </a></td><td>Perivascular spaces</td></tr><tr><td style=\"white-space:nowrap\">HP:0005293<a name=\"hpo-HP.580005293\"> </a></td><td>Venous insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0012432<a name=\"hpo-HP.580012432\"> </a></td><td>Chronic fatigue</td></tr><tr><td style=\"white-space:nowrap\">HP:0002578<a name=\"hpo-HP.580002578\"> </a></td><td>Gastroparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001658<a name=\"hpo-HP.580001658\"> </a></td><td>Myocardial infarction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001802<a name=\"hpo-HP.580001802\"> </a></td><td>Absent toenail</td></tr><tr><td style=\"white-space:nowrap\">HP:0001821<a name=\"hpo-HP.580001821\"> </a></td><td>Broad nail</td></tr><tr><td style=\"white-space:nowrap\">HP:0000807<a name=\"hpo-HP.580000807\"> </a></td><td>Glandular hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0100582<a name=\"hpo-HP.580100582\"> </a></td><td>Nasal polyposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002653<a name=\"hpo-HP.580002653\"> </a></td><td>Bone pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0001073<a name=\"hpo-HP.580001073\"> </a></td><td>Cigarette-paper scars</td></tr><tr><td style=\"white-space:nowrap\">HP:0031913<a name=\"hpo-HP.580031913\"> </a></td><td>Rhombencephalosynapsis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002617<a name=\"hpo-HP.580002617\"> </a></td><td>Dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005107<a name=\"hpo-HP.580005107\"> </a></td><td>Abnormal sacrum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002025<a name=\"hpo-HP.580002025\"> </a></td><td>Anal stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0009099<a name=\"hpo-HP.580009099\"> </a></td><td>Median cleft palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0003212<a name=\"hpo-HP.580003212\"> </a></td><td>Increased circulating IgE level</td></tr><tr><td style=\"white-space:nowrap\">HP:0001319<a name=\"hpo-HP.580001319\"> </a></td><td>Neonatal hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002659<a name=\"hpo-HP.580002659\"> </a></td><td>Increased susceptibility to fractures</td></tr><tr><td style=\"white-space:nowrap\">HP:0025246<a name=\"hpo-HP.580025246\"> </a></td><td>Trichilemmal cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0002107<a name=\"hpo-HP.580002107\"> </a></td><td>Pneumothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0000107<a name=\"hpo-HP.580000107\"> </a></td><td>Renal cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0001025<a name=\"hpo-HP.580001025\"> </a></td><td>Urticaria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002204<a name=\"hpo-HP.580002204\"> </a></td><td>Pulmonary embolism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001058<a name=\"hpo-HP.580001058\"> </a></td><td>Poor wound healing</td></tr><tr><td style=\"white-space:nowrap\">HP:0003010<a name=\"hpo-HP.580003010\"> </a></td><td>Prolonged bleeding time</td></tr><tr><td style=\"white-space:nowrap\">HP:0100502<a name=\"hpo-HP.580100502\"> </a></td><td>Vitamin B12 deficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0100510<a name=\"hpo-HP.580100510\"> </a></td><td>Low levels of vitamin C</td></tr><tr><td style=\"white-space:nowrap\">HP:0030976<a name=\"hpo-HP.580030976\"> </a></td><td>Abnormal factor VIII activity</td></tr><tr><td style=\"white-space:nowrap\">HP:0100789<a name=\"hpo-HP.580100789\"> </a></td><td>Torus palatinus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000108<a name=\"hpo-HP.580000108\"> </a></td><td>Renal corticomedullary cysts</td></tr><tr><td style=\"white-space:nowrap\">HP:0000072<a name=\"hpo-HP.580000072\"> </a></td><td>Hydroureter</td></tr><tr><td style=\"white-space:nowrap\">HP:0000019<a name=\"hpo-HP.580000019\"> </a></td><td>Urinary hesitancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100771<a name=\"hpo-HP.580100771\"> </a></td><td>Hypoperistalsis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000021<a name=\"hpo-HP.580000021\"> </a></td><td>Megacystis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004388<a name=\"hpo-HP.580004388\"> </a></td><td>Microcolon</td></tr><tr><td style=\"white-space:nowrap\">HP:0005247<a name=\"hpo-HP.580005247\"> </a></td><td>Hypoplasia of the abdominal wall musculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0004794<a name=\"hpo-HP.580004794\"> </a></td><td>Malrotation of small bowel</td></tr><tr><td style=\"white-space:nowrap\">HP:0000045<a name=\"hpo-HP.580000045\"> </a></td><td>Abnormality of the scrotum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002236<a name=\"hpo-HP.580002236\"> </a></td><td>Frontal upsweep of hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0000212<a name=\"hpo-HP.580000212\"> </a></td><td>Gingival overgrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001808<a name=\"hpo-HP.580001808\"> </a></td><td>Fragile nails</td></tr><tr><td style=\"white-space:nowrap\">HP:0000225<a name=\"hpo-HP.580000225\"> </a></td><td>Gingival bleeding</td></tr><tr><td style=\"white-space:nowrap\">HP:0006009<a name=\"hpo-HP.580006009\"> </a></td><td>Broad phalanx</td></tr><tr><td style=\"white-space:nowrap\">HP:0001837<a name=\"hpo-HP.580001837\"> </a></td><td>Broad toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001946<a name=\"hpo-HP.580001946\"> </a></td><td>Ketosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002490<a name=\"hpo-HP.580002490\"> </a></td><td>Increased CSF lactate</td></tr><tr><td style=\"white-space:nowrap\">HP:0002922<a name=\"hpo-HP.580002922\"> </a></td><td>Increased CSF protein</td></tr><tr><td style=\"white-space:nowrap\">HP:0003128<a name=\"hpo-HP.580003128\"> </a></td><td>Lactic acidosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003111<a name=\"hpo-HP.580003111\"> </a></td><td>Abnormal blood ion concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0032234<a name=\"hpo-HP.580032234\"> </a></td><td>Increased circulating creatine kinase MM isoform</td></tr><tr><td style=\"white-space:nowrap\">HP:0003348<a name=\"hpo-HP.580003348\"> </a></td><td>Hyperalaninemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008347<a name=\"hpo-HP.580008347\"> </a></td><td>Decreased activity of mitochondrial complex IV</td></tr><tr><td style=\"white-space:nowrap\">HP:0000326<a name=\"hpo-HP.580000326\"> </a></td><td>Abnormality of the maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0010758<a name=\"hpo-HP.580010758\"> </a></td><td>Abnormality of the premaxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0005681<a name=\"hpo-HP.580005681\"> </a></td><td>Juvenile rheumatoid arthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000514<a name=\"hpo-HP.580000514\"> </a></td><td>Slow saccadic eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0002788<a name=\"hpo-HP.580002788\"> </a></td><td>Recurrent upper respiratory tract infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0003396<a name=\"hpo-HP.580003396\"> </a></td><td>Syringomyelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003011<a name=\"hpo-HP.580003011\"> </a></td><td>Abnormality of the musculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0002098<a name=\"hpo-HP.580002098\"> </a></td><td>Respiratory distress</td></tr><tr><td style=\"white-space:nowrap\">HP:0002018<a name=\"hpo-HP.580002018\"> </a></td><td>Nausea</td></tr><tr><td style=\"white-space:nowrap\">HP:0002014<a name=\"hpo-HP.580002014\"> </a></td><td>Diarrhea</td></tr><tr><td style=\"white-space:nowrap\">HP:0025168<a name=\"hpo-HP.580025168\"> </a></td><td>Left ventricular diastolic dysfunction</td></tr><tr><td style=\"white-space:nowrap\">HP:0001679<a name=\"hpo-HP.580001679\"> </a></td><td>Abnormal aortic morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000159<a name=\"hpo-HP.580000159\"> </a></td><td>Abnormal lip morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011338<a name=\"hpo-HP.580011338\"> </a></td><td>Abnormality of mouth shape</td></tr><tr><td style=\"white-space:nowrap\">HP:0000478<a name=\"hpo-HP.580000478\"> </a></td><td>Abnormality of the eye</td></tr><tr><td style=\"white-space:nowrap\">HP:0000154<a name=\"hpo-HP.580000154\"> </a></td><td>Wide mouth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001513<a name=\"hpo-HP.580001513\"> </a></td><td>Obesity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002475<a name=\"hpo-HP.580002475\"> </a></td><td>Myelomeningocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0003765<a name=\"hpo-HP.580003765\"> </a></td><td>Psoriasiform dermatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010289<a name=\"hpo-HP.580010289\"> </a></td><td>Cleft of alveolar ridge of maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0003908<a name=\"hpo-HP.580003908\"> </a></td><td>Corner fracture of metaphysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002190<a name=\"hpo-HP.580002190\"> </a></td><td>Choroid plexus cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0004370<a name=\"hpo-HP.580004370\"> </a></td><td>Abnormality of temperature regulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011611<a name=\"hpo-HP.580011611\"> </a></td><td>Interrupted aortic arch</td></tr><tr><td style=\"white-space:nowrap\">HP:0000737<a name=\"hpo-HP.580000737\"> </a></td><td>Irritability</td></tr><tr><td style=\"white-space:nowrap\">HP:0001344<a name=\"hpo-HP.580001344\"> </a></td><td>Absent speech</td></tr><tr><td style=\"white-space:nowrap\">HP:0002376<a name=\"hpo-HP.580002376\"> </a></td><td>Developmental regression</td></tr><tr><td style=\"white-space:nowrap\">HP:0002140<a name=\"hpo-HP.580002140\"> </a></td><td>Ischemic stroke</td></tr><tr><td style=\"white-space:nowrap\">HP:0001287<a name=\"hpo-HP.580001287\"> </a></td><td>Meningitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002721<a name=\"hpo-HP.580002721\"> </a></td><td>Immunodeficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000041<a name=\"hpo-HP.580000041\"> </a></td><td>Chordee</td></tr><tr><td style=\"white-space:nowrap\">HP:0012854<a name=\"hpo-HP.580012854\"> </a></td><td>Midshaft hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0000808<a name=\"hpo-HP.580000808\"> </a></td><td>Penoscrotal hypospadias</td></tr><tr><td style=\"white-space:nowrap\">HP:0000048<a name=\"hpo-HP.580000048\"> </a></td><td>Bifid scrotum</td></tr><tr><td style=\"white-space:nowrap\">HP:0001047<a name=\"hpo-HP.580001047\"> </a></td><td>Atopic dermatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001621<a name=\"hpo-HP.580001621\"> </a></td><td>Weak voice</td></tr><tr><td style=\"white-space:nowrap\">HP:0002372<a name=\"hpo-HP.580002372\"> </a></td><td>Normal interictal EEG</td></tr><tr><td style=\"white-space:nowrap\">HP:0012803<a name=\"hpo-HP.580012803\"> </a></td><td>Anisometropia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011386<a name=\"hpo-HP.580011386\"> </a></td><td>Narrow internal auditory canal</td></tr><tr><td style=\"white-space:nowrap\">HP:0012714<a name=\"hpo-HP.580012714\"> </a></td><td>Severe hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0006485<a name=\"hpo-HP.580006485\"> </a></td><td>Agenesis of incisor</td></tr><tr><td style=\"white-space:nowrap\">HP:0000787<a name=\"hpo-HP.580000787\"> </a></td><td>Nephrolithiasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011332<a name=\"hpo-HP.580011332\"> </a></td><td>Hemifacial hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001909<a name=\"hpo-HP.580001909\"> </a></td><td>Leukemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004808<a name=\"hpo-HP.580004808\"> </a></td><td>Acute myeloid leukemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006495<a name=\"hpo-HP.580006495\"> </a></td><td>Aplasia/Hypoplasia of the ulna</td></tr><tr><td style=\"white-space:nowrap\">HP:0001180<a name=\"hpo-HP.580001180\"> </a></td><td>Hand oligodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002991<a name=\"hpo-HP.580002991\"> </a></td><td>Abnormality of fibula morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001849<a name=\"hpo-HP.580001849\"> </a></td><td>Foot oligodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0006507<a name=\"hpo-HP.580006507\"> </a></td><td>Aplasia/hypoplasia of the humerus</td></tr><tr><td style=\"white-space:nowrap\">HP:0005613<a name=\"hpo-HP.580005613\"> </a></td><td>Aplasia/hypoplasia of the femur</td></tr><tr><td style=\"white-space:nowrap\">HP:0006492<a name=\"hpo-HP.580006492\"> </a></td><td>Aplasia/Hypoplasia of the fibula</td></tr><tr><td style=\"white-space:nowrap\">HP:0000098<a name=\"hpo-HP.580000098\"> </a></td><td>Tall stature</td></tr><tr><td style=\"white-space:nowrap\">HP:0003311<a name=\"hpo-HP.580003311\"> </a></td><td>Hypoplasia of the odontoid process</td></tr><tr><td style=\"white-space:nowrap\">HP:0005752<a name=\"hpo-HP.580005752\"> </a></td><td>Flattened moderately deformed vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0030039<a name=\"hpo-HP.580030039\"> </a></td><td>Fused thoracic vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0003304<a name=\"hpo-HP.580003304\"> </a></td><td>Spondylolysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001659<a name=\"hpo-HP.580001659\"> </a></td><td>Aortic regurgitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002984<a name=\"hpo-HP.580002984\"> </a></td><td>Hypoplasia of the radius</td></tr><tr><td style=\"white-space:nowrap\">HP:0009944<a name=\"hpo-HP.580009944\"> </a></td><td>Partial duplication of thumb phalanx</td></tr><tr><td style=\"white-space:nowrap\">HP:0005819<a name=\"hpo-HP.580005819\"> </a></td><td>Short middle phalanx of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0002110<a name=\"hpo-HP.580002110\"> </a></td><td>Bronchiectasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001677<a name=\"hpo-HP.580001677\"> </a></td><td>Coronary artery atherosclerosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001737<a name=\"hpo-HP.580001737\"> </a></td><td>Pancreatic cysts</td></tr><tr><td style=\"white-space:nowrap\">HP:0005113<a name=\"hpo-HP.580005113\"> </a></td><td>Aortic arch aneurysm</td></tr><tr><td style=\"white-space:nowrap\">HP:0003022<a name=\"hpo-HP.580003022\"> </a></td><td>Hypoplasia of the ulna</td></tr><tr><td style=\"white-space:nowrap\">HP:0002205<a name=\"hpo-HP.580002205\"> </a></td><td>Recurrent respiratory infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0001669<a name=\"hpo-HP.580001669\"> </a></td><td>Transposition of the great arteries</td></tr><tr><td style=\"white-space:nowrap\">HP:0001716<a name=\"hpo-HP.580001716\"> </a></td><td>Wolff-Parkinson-White syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0002758<a name=\"hpo-HP.580002758\"> </a></td><td>Osteoarthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002037<a name=\"hpo-HP.580002037\"> </a></td><td>Inflammation of the large intestine</td></tr><tr><td style=\"white-space:nowrap\">HP:0009892<a name=\"hpo-HP.580009892\"> </a></td><td>Anotia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011331<a name=\"hpo-HP.580011331\"> </a></td><td>Hemifacial atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0009118<a name=\"hpo-HP.580009118\"> </a></td><td>Aplasia/Hypoplasia of the mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0009940<a name=\"hpo-HP.580009940\"> </a></td><td>Asymmetry of the mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0000682<a name=\"hpo-HP.580000682\"> </a></td><td>Abnormality of dental enamel</td></tr><tr><td style=\"white-space:nowrap\">HP:0009908<a name=\"hpo-HP.580009908\"> </a></td><td>Anterior creases of earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001541<a name=\"hpo-HP.580001541\"> </a></td><td>Ascites</td></tr><tr><td style=\"white-space:nowrap\">HP:0006687<a name=\"hpo-HP.580006687\"> </a></td><td>Aortic tortuosity</td></tr><tr><td style=\"white-space:nowrap\">HP:0010535<a name=\"hpo-HP.580010535\"> </a></td><td>Sleep apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0100633<a name=\"hpo-HP.580100633\"> </a></td><td>Esophagitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002105<a name=\"hpo-HP.580002105\"> </a></td><td>Hemoptysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002613<a name=\"hpo-HP.580002613\"> </a></td><td>Biliary cirrhosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004469<a name=\"hpo-HP.580004469\"> </a></td><td>Chronic bronchitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002720<a name=\"hpo-HP.580002720\"> </a></td><td>Decreased circulating IgA level</td></tr><tr><td style=\"white-space:nowrap\">HP:0002904<a name=\"hpo-HP.580002904\"> </a></td><td>Hyperbilirubinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003237<a name=\"hpo-HP.580003237\"> </a></td><td>Increased circulating IgG level</td></tr><tr><td style=\"white-space:nowrap\">HP:0003262<a name=\"hpo-HP.580003262\"> </a></td><td>Smooth muscle antibody positivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0011227<a name=\"hpo-HP.580011227\"> </a></td><td>Elevated C-reactive protein level</td></tr><tr><td style=\"white-space:nowrap\">HP:0001852<a name=\"hpo-HP.580001852\"> </a></td><td>Sandal gap</td></tr><tr><td style=\"white-space:nowrap\">HP:0004381<a name=\"hpo-HP.580004381\"> </a></td><td>Supravalvular aortic stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100700<a name=\"hpo-HP.580100700\"> </a></td><td>Abnormal arachnoid mater morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002624<a name=\"hpo-HP.580002624\"> </a></td><td>Abnormal venous morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002289<a name=\"hpo-HP.580002289\"> </a></td><td>Alopecia universalis</td></tr><tr><td style=\"white-space:nowrap\">HP:0009588<a name=\"hpo-HP.580009588\"> </a></td><td>Vestibular Schwannoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001648<a name=\"hpo-HP.580001648\"> </a></td><td>Cor pulmonale</td></tr><tr><td style=\"white-space:nowrap\">HP:0002091<a name=\"hpo-HP.580002091\"> </a></td><td>Restrictive ventilatory defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0002092<a name=\"hpo-HP.580002092\"> </a></td><td>Pulmonary arterial hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0002113<a name=\"hpo-HP.580002113\"> </a></td><td>Pulmonary infiltrates</td></tr><tr><td style=\"white-space:nowrap\">HP:0003138<a name=\"hpo-HP.580003138\"> </a></td><td>Increased blood urea nitrogen</td></tr><tr><td style=\"white-space:nowrap\">HP:0003259<a name=\"hpo-HP.580003259\"> </a></td><td>Elevated serum creatinine</td></tr><tr><td style=\"white-space:nowrap\">HP:0005180<a name=\"hpo-HP.580005180\"> </a></td><td>Tricuspid regurgitation</td></tr><tr><td style=\"white-space:nowrap\">HP:0012585<a name=\"hpo-HP.580012585\"> </a></td><td>Renal atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005133<a name=\"hpo-HP.580005133\"> </a></td><td>Right ventricular dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005575<a name=\"hpo-HP.580005575\"> </a></td><td>Hemolytic-uremic syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0001697<a name=\"hpo-HP.580001697\"> </a></td><td>Abnormal pericardium morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012486<a name=\"hpo-HP.580012486\"> </a></td><td>Myelitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002385<a name=\"hpo-HP.580002385\"> </a></td><td>Paraparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006706<a name=\"hpo-HP.580006706\"> </a></td><td>Cystic liver disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0010880<a name=\"hpo-HP.580010880\"> </a></td><td>Increased nuchal translucency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000457<a name=\"hpo-HP.580000457\"> </a></td><td>Depressed nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0002263<a name=\"hpo-HP.580002263\"> </a></td><td>Exaggerated cupid's bow</td></tr><tr><td style=\"white-space:nowrap\">HP:0002500<a name=\"hpo-HP.580002500\"> </a></td><td>Abnormality of the cerebral white matter</td></tr><tr><td style=\"white-space:nowrap\">HP:0002835<a name=\"hpo-HP.580002835\"> </a></td><td>Aspiration</td></tr><tr><td style=\"white-space:nowrap\">HP:0000600<a name=\"hpo-HP.580000600\"> </a></td><td>Abnormality of the pharynx</td></tr><tr><td style=\"white-space:nowrap\">HP:0004327<a name=\"hpo-HP.580004327\"> </a></td><td>Abnormal vitreous humor morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0004378<a name=\"hpo-HP.580004378\"> </a></td><td>Abnormality of the anus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012374<a name=\"hpo-HP.580012374\"> </a></td><td>obsolete Abnormal globe morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0100768<a name=\"hpo-HP.580100768\"> </a></td><td>Choriocarcinoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0030991<a name=\"hpo-HP.580030991\"> </a></td><td>Sclerosing cholangitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006510<a name=\"hpo-HP.580006510\"> </a></td><td>Chronic pulmonary obstruction</td></tr><tr><td style=\"white-space:nowrap\">HP:0000710<a name=\"hpo-HP.580000710\"> </a></td><td>Hyperorality</td></tr><tr><td style=\"white-space:nowrap\">HP:0001270<a name=\"hpo-HP.580001270\"> </a></td><td>Motor delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0001548<a name=\"hpo-HP.580001548\"> </a></td><td>Overgrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002311<a name=\"hpo-HP.580002311\"> </a></td><td>Incoordination</td></tr><tr><td style=\"white-space:nowrap\">HP:0006288<a name=\"hpo-HP.580006288\"> </a></td><td>Advanced eruption of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0006323<a name=\"hpo-HP.580006323\"> </a></td><td>Premature loss of primary teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009890<a name=\"hpo-HP.580009890\"> </a></td><td>High anterior hairline</td></tr><tr><td style=\"white-space:nowrap\">HP:0100034<a name=\"hpo-HP.580100034\"> </a></td><td>Motor tics</td></tr><tr><td style=\"white-space:nowrap\">HP:0100035<a name=\"hpo-HP.580100035\"> </a></td><td>Phonic tics</td></tr><tr><td style=\"white-space:nowrap\">HP:0000348<a name=\"hpo-HP.580000348\"> </a></td><td>High forehead</td></tr><tr><td style=\"white-space:nowrap\">HP:0001520<a name=\"hpo-HP.580001520\"> </a></td><td>Large for gestational age</td></tr><tr><td style=\"white-space:nowrap\">HP:0001239<a name=\"hpo-HP.580001239\"> </a></td><td>Wrist flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0007359<a name=\"hpo-HP.580007359\"> </a></td><td>Focal-onset seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0000430<a name=\"hpo-HP.580000430\"> </a></td><td>Underdeveloped nasal alae</td></tr><tr><td style=\"white-space:nowrap\">HP:0007400<a name=\"hpo-HP.580007400\"> </a></td><td>Irregular hyperpigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0100495<a name=\"hpo-HP.580100495\"> </a></td><td>Mastocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012378<a name=\"hpo-HP.580012378\"> </a></td><td>Fatigue</td></tr><tr><td style=\"white-space:nowrap\">HP:0002046<a name=\"hpo-HP.580002046\"> </a></td><td>Heat intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0003270<a name=\"hpo-HP.580003270\"> </a></td><td>Abdominal distention</td></tr><tr><td style=\"white-space:nowrap\">HP:0002180<a name=\"hpo-HP.580002180\"> </a></td><td>Neurodegeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0003493<a name=\"hpo-HP.580003493\"> </a></td><td>Antinuclear antibody positivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0030057<a name=\"hpo-HP.580030057\"> </a></td><td>Autoimmune antibody positivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0006802<a name=\"hpo-HP.580006802\"> </a></td><td>Abnormal anterior horn cell morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000064<a name=\"hpo-HP.580000064\"> </a></td><td>Hypoplastic labia minora</td></tr><tr><td style=\"white-space:nowrap\">HP:0000338<a name=\"hpo-HP.580000338\"> </a></td><td>Hypomimic face</td></tr><tr><td style=\"white-space:nowrap\">HP:0001642<a name=\"hpo-HP.580001642\"> </a></td><td>Pulmonic stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011344<a name=\"hpo-HP.580011344\"> </a></td><td>Severe global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0200007<a name=\"hpo-HP.580200007\"> </a></td><td>Abnormal size of the palpebral fissures</td></tr><tr><td style=\"white-space:nowrap\">HP:0004464<a name=\"hpo-HP.580004464\"> </a></td><td>Postauricular pit</td></tr><tr><td style=\"white-space:nowrap\">HP:0000130<a name=\"hpo-HP.580000130\"> </a></td><td>Abnormality of the uterus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000137<a name=\"hpo-HP.580000137\"> </a></td><td>Abnormality of the ovary</td></tr><tr><td style=\"white-space:nowrap\">HP:0000142<a name=\"hpo-HP.580000142\"> </a></td><td>Abnormal vagina morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000370<a name=\"hpo-HP.580000370\"> </a></td><td>Abnormality of the middle ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0011787<a name=\"hpo-HP.580011787\"> </a></td><td>Central hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000274<a name=\"hpo-HP.580000274\"> </a></td><td>Small face</td></tr><tr><td style=\"white-space:nowrap\">HP:0000446<a name=\"hpo-HP.580000446\"> </a></td><td>Narrow nasal bridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0000622<a name=\"hpo-HP.580000622\"> </a></td><td>Blurred vision</td></tr><tr><td style=\"white-space:nowrap\">HP:0001245<a name=\"hpo-HP.580001245\"> </a></td><td>Small thenar eminence</td></tr><tr><td style=\"white-space:nowrap\">HP:0009601<a name=\"hpo-HP.580009601\"> </a></td><td>Aplasia/Hypoplasia of the thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0011343<a name=\"hpo-HP.580011343\"> </a></td><td>Moderate global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0000419<a name=\"hpo-HP.580000419\"> </a></td><td>Abnormality of the nasal septum</td></tr><tr><td style=\"white-space:nowrap\">HP:0000502<a name=\"hpo-HP.580000502\"> </a></td><td>Abnormal conjunctiva morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000591<a name=\"hpo-HP.580000591\"> </a></td><td>Abnormal sclera morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000615<a name=\"hpo-HP.580000615\"> </a></td><td>Abnormal pupil morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001163<a name=\"hpo-HP.580001163\"> </a></td><td>Abnormality of the metacarpal bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0001832<a name=\"hpo-HP.580001832\"> </a></td><td>Abnormal metatarsal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001850<a name=\"hpo-HP.580001850\"> </a></td><td>Abnormality of the tarsal bones</td></tr><tr><td style=\"white-space:nowrap\">HP:0010490<a name=\"hpo-HP.580010490\"> </a></td><td>Abnormality of the palmar creases</td></tr><tr><td style=\"white-space:nowrap\">HP:0010881<a name=\"hpo-HP.580010881\"> </a></td><td>Abnormality of the umbilical cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0009113<a name=\"hpo-HP.580009113\"> </a></td><td>Diaphragmatic weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0011664<a name=\"hpo-HP.580011664\"> </a></td><td>Left ventricular noncompaction cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100240<a name=\"hpo-HP.580100240\"> </a></td><td>Synostosis of joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0001838<a name=\"hpo-HP.580001838\"> </a></td><td>Rocker bottom foot</td></tr><tr><td style=\"white-space:nowrap\">HP:0003717<a name=\"hpo-HP.580003717\"> </a></td><td>Minimal subcutaneous fat</td></tr><tr><td style=\"white-space:nowrap\">HP:0001339<a name=\"hpo-HP.580001339\"> </a></td><td>Lissencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001591<a name=\"hpo-HP.580001591\"> </a></td><td>Bell-shaped thorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0002655<a name=\"hpo-HP.580002655\"> </a></td><td>Spondyloepiphyseal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002983<a name=\"hpo-HP.580002983\"> </a></td><td>Micromelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003016<a name=\"hpo-HP.580003016\"> </a></td><td>Metaphyseal widening</td></tr><tr><td style=\"white-space:nowrap\">HP:0009826<a name=\"hpo-HP.580009826\"> </a></td><td>Limb undergrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0004488<a name=\"hpo-HP.580004488\"> </a></td><td>Macrocephaly at birth</td></tr><tr><td style=\"white-space:nowrap\">HP:0001695<a name=\"hpo-HP.580001695\"> </a></td><td>Cardiac arrest</td></tr><tr><td style=\"white-space:nowrap\">HP:0001712<a name=\"hpo-HP.580001712\"> </a></td><td>Left ventricular hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100775<a name=\"hpo-HP.580100775\"> </a></td><td>Dural ectasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000846<a name=\"hpo-HP.580000846\"> </a></td><td>Adrenal insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002925<a name=\"hpo-HP.580002925\"> </a></td><td>Increased thyroid-stimulating hormone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0100646<a name=\"hpo-HP.580100646\"> </a></td><td>Thyroiditis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000836<a name=\"hpo-HP.580000836\"> </a></td><td>Hyperthyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0004414<a name=\"hpo-HP.580004414\"> </a></td><td>Abnormality of the pulmonary artery</td></tr><tr><td style=\"white-space:nowrap\">HP:0000465<a name=\"hpo-HP.580000465\"> </a></td><td>Webbed neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0000723<a name=\"hpo-HP.580000723\"> </a></td><td>Restrictive behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0002253<a name=\"hpo-HP.580002253\"> </a></td><td>Colonic diverticula</td></tr><tr><td style=\"white-space:nowrap\">HP:0001310<a name=\"hpo-HP.580001310\"> </a></td><td>Dysmetria</td></tr><tr><td style=\"white-space:nowrap\">HP:0000093<a name=\"hpo-HP.580000093\"> </a></td><td>Proteinuria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002907<a name=\"hpo-HP.580002907\"> </a></td><td>Microscopic hematuria</td></tr><tr><td style=\"white-space:nowrap\">HP:0003073<a name=\"hpo-HP.580003073\"> </a></td><td>Hypoalbuminemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004315<a name=\"hpo-HP.580004315\"> </a></td><td>Decreased circulating IgG level</td></tr><tr><td style=\"white-space:nowrap\">HP:0000795<a name=\"hpo-HP.580000795\"> </a></td><td>Abnormality of the urethra</td></tr><tr><td style=\"white-space:nowrap\">HP:0001015<a name=\"hpo-HP.580001015\"> </a></td><td>Prominent superficial veins</td></tr><tr><td style=\"white-space:nowrap\">HP:0004691<a name=\"hpo-HP.580004691\"> </a></td><td>2-3 toe syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005328<a name=\"hpo-HP.580005328\"> </a></td><td>Progeroid facial appearance</td></tr><tr><td style=\"white-space:nowrap\">HP:0005487<a name=\"hpo-HP.580005487\"> </a></td><td>Prominent metopic ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0007552<a name=\"hpo-HP.580007552\"> </a></td><td>Abnormal subcutaneous fat tissue distribution</td></tr><tr><td style=\"white-space:nowrap\">HP:0100678<a name=\"hpo-HP.580100678\"> </a></td><td>Premature skin wrinkling</td></tr><tr><td style=\"white-space:nowrap\">HP:0031137<a name=\"hpo-HP.580031137\"> </a></td><td>Storage in hepatocytes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002521<a name=\"hpo-HP.580002521\"> </a></td><td>Hypsarrhythmia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005390<a name=\"hpo-HP.580005390\"> </a></td><td>Recurrent opportunistic infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0002716<a name=\"hpo-HP.580002716\"> </a></td><td>Lymphadenopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005379<a name=\"hpo-HP.580005379\"> </a></td><td>obsolete Severe T lymphocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004432<a name=\"hpo-HP.580004432\"> </a></td><td>Agammaglobulinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006695<a name=\"hpo-HP.580006695\"> </a></td><td>Atrioventricular canal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0001733<a name=\"hpo-HP.580001733\"> </a></td><td>Pancreatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002350<a name=\"hpo-HP.580002350\"> </a></td><td>Cerebellar cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0012110<a name=\"hpo-HP.580012110\"> </a></td><td>Hypoplasia of the pons</td></tr><tr><td style=\"white-space:nowrap\">HP:0001948<a name=\"hpo-HP.580001948\"> </a></td><td>Alkalosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003113<a name=\"hpo-HP.580003113\"> </a></td><td>Hypochloremia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003155<a name=\"hpo-HP.580003155\"> </a></td><td>Elevated alkaline phosphatase</td></tr><tr><td style=\"white-space:nowrap\">HP:0003542<a name=\"hpo-HP.580003542\"> </a></td><td>Increased serum pyruvate</td></tr><tr><td style=\"white-space:nowrap\">HP:0000421<a name=\"hpo-HP.580000421\"> </a></td><td>Epistaxis</td></tr><tr><td style=\"white-space:nowrap\">HP:0200136<a name=\"hpo-HP.580200136\"> </a></td><td>Oral-pharyngeal dysphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000805<a name=\"hpo-HP.580000805\"> </a></td><td>Enuresis</td></tr><tr><td style=\"white-space:nowrap\">HP:0005616<a name=\"hpo-HP.580005616\"> </a></td><td>Accelerated skeletal maturation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002459<a name=\"hpo-HP.580002459\"> </a></td><td>obsolete Dysautonomia</td></tr><tr><td style=\"white-space:nowrap\">HP:0007302<a name=\"hpo-HP.580007302\"> </a></td><td>Bipolar affective disorder</td></tr><tr><td style=\"white-space:nowrap\">HP:0100602<a name=\"hpo-HP.580100602\"> </a></td><td>Preeclampsia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100508<a name=\"hpo-HP.580100508\"> </a></td><td>Abnormality of vitamin metabolism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001140<a name=\"hpo-HP.580001140\"> </a></td><td>Limbal dermoid</td></tr><tr><td style=\"white-space:nowrap\">HP:0000143<a name=\"hpo-HP.580000143\"> </a></td><td>Rectovaginal fistula</td></tr><tr><td style=\"white-space:nowrap\">HP:0001746<a name=\"hpo-HP.580001746\"> </a></td><td>Asplenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012715<a name=\"hpo-HP.580012715\"> </a></td><td>Profound hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001748<a name=\"hpo-HP.580001748\"> </a></td><td>Polysplenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003072<a name=\"hpo-HP.580003072\"> </a></td><td>Hypercalcemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002905<a name=\"hpo-HP.580002905\"> </a></td><td>Hyperphosphatemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002901<a name=\"hpo-HP.580002901\"> </a></td><td>Hypocalcemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001367<a name=\"hpo-HP.580001367\"> </a></td><td>Abnormal joint morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0010562<a name=\"hpo-HP.580010562\"> </a></td><td>Keloids</td></tr><tr><td style=\"white-space:nowrap\">HP:0004430<a name=\"hpo-HP.580004430\"> </a></td><td>Severe combined immunodeficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0000003<a name=\"hpo-HP.580000003\"> </a></td><td>Multicystic kidney dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010980<a name=\"hpo-HP.580010980\"> </a></td><td>Hyperlipoproteinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002155<a name=\"hpo-HP.580002155\"> </a></td><td>Hypertriglyceridemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000520<a name=\"hpo-HP.580000520\"> </a></td><td>Proptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000180<a name=\"hpo-HP.580000180\"> </a></td><td>Lobulated tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0005486<a name=\"hpo-HP.580005486\"> </a></td><td>Small fontanelle</td></tr><tr><td style=\"white-space:nowrap\">HP:0000891<a name=\"hpo-HP.580000891\"> </a></td><td>Cervical ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0002557<a name=\"hpo-HP.580002557\"> </a></td><td>Hypoplastic nipples</td></tr><tr><td style=\"white-space:nowrap\">HP:0009112<a name=\"hpo-HP.580009112\"> </a></td><td>Aplasia of the left hemidiaphragm</td></tr><tr><td style=\"white-space:nowrap\">HP:0001719<a name=\"hpo-HP.580001719\"> </a></td><td>Double outlet right ventricle</td></tr><tr><td style=\"white-space:nowrap\">HP:0001682<a name=\"hpo-HP.580001682\"> </a></td><td>Subvalvular aortic stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001667<a name=\"hpo-HP.580001667\"> </a></td><td>Right ventricular hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002101<a name=\"hpo-HP.580002101\"> </a></td><td>Abnormal lung lobation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002202<a name=\"hpo-HP.580002202\"> </a></td><td>Pleural effusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0002566<a name=\"hpo-HP.580002566\"> </a></td><td>Intestinal malrotation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004510<a name=\"hpo-HP.580004510\"> </a></td><td>Pancreatic islet-cell hyperplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001747<a name=\"hpo-HP.580001747\"> </a></td><td>Accessory spleen</td></tr><tr><td style=\"white-space:nowrap\">HP:0002181<a name=\"hpo-HP.580002181\"> </a></td><td>Cerebral edema</td></tr><tr><td style=\"white-space:nowrap\">HP:0000967<a name=\"hpo-HP.580000967\"> </a></td><td>Petechiae</td></tr><tr><td style=\"white-space:nowrap\">HP:0009702<a name=\"hpo-HP.580009702\"> </a></td><td>Carpal synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000927<a name=\"hpo-HP.580000927\"> </a></td><td>Abnormality of skeletal maturation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004348<a name=\"hpo-HP.580004348\"> </a></td><td>Abnormality of bone mineral density</td></tr><tr><td style=\"white-space:nowrap\">HP:0003019<a name=\"hpo-HP.580003019\"> </a></td><td>Abnormality of the wrist</td></tr><tr><td style=\"white-space:nowrap\">HP:0003063<a name=\"hpo-HP.580003063\"> </a></td><td>Abnormality of the humerus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001059<a name=\"hpo-HP.580001059\"> </a></td><td>Pterygium</td></tr><tr><td style=\"white-space:nowrap\">HP:0001528<a name=\"hpo-HP.580001528\"> </a></td><td>Hemihypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011228<a name=\"hpo-HP.580011228\"> </a></td><td>Horizontal eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0000766<a name=\"hpo-HP.580000766\"> </a></td><td>Abnormality of the sternum</td></tr><tr><td style=\"white-space:nowrap\">HP:0001254<a name=\"hpo-HP.580001254\"> </a></td><td>Lethargy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002360<a name=\"hpo-HP.580002360\"> </a></td><td>Sleep disturbance</td></tr><tr><td style=\"white-space:nowrap\">HP:0001063<a name=\"hpo-HP.580001063\"> </a></td><td>Acrocyanosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001769<a name=\"hpo-HP.580001769\"> </a></td><td>Broad foot</td></tr><tr><td style=\"white-space:nowrap\">HP:0010280<a name=\"hpo-HP.580010280\"> </a></td><td>Stomatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001288<a name=\"hpo-HP.580001288\"> </a></td><td>Gait disturbance</td></tr><tr><td style=\"white-space:nowrap\">HP:0008330<a name=\"hpo-HP.580008330\"> </a></td><td>Reduced von Willebrand factor activity</td></tr><tr><td style=\"white-space:nowrap\">HP:0001954<a name=\"hpo-HP.580001954\"> </a></td><td>Recurrent fever</td></tr><tr><td style=\"white-space:nowrap\">HP:0004311<a name=\"hpo-HP.580004311\"> </a></td><td>Abnormal macrophage morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0012539<a name=\"hpo-HP.580012539\"> </a></td><td>Non-Hodgkin lymphoma</td></tr><tr><td style=\"white-space:nowrap\">HP:0002074<a name=\"hpo-HP.580002074\"> </a></td><td>Increased neuronal autofluorescent lipopigment</td></tr><tr><td style=\"white-space:nowrap\">HP:0002973<a name=\"hpo-HP.580002973\"> </a></td><td>Abnormality of the forearm</td></tr><tr><td style=\"white-space:nowrap\">HP:0003203<a name=\"hpo-HP.580003203\"> </a></td><td>Impaired oxidative burst</td></tr><tr><td style=\"white-space:nowrap\">HP:0003027<a name=\"hpo-HP.580003027\"> </a></td><td>Mesomelia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002754<a name=\"hpo-HP.580002754\"> </a></td><td>Osteomyelitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004431<a name=\"hpo-HP.580004431\"> </a></td><td>Complement deficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0001258<a name=\"hpo-HP.580001258\"> </a></td><td>Spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012811<a name=\"hpo-HP.580012811\"> </a></td><td>Wide nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0011832<a name=\"hpo-HP.580011832\"> </a></td><td>Narrow nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000288<a name=\"hpo-HP.580000288\"> </a></td><td>Abnormality of the philtrum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002357<a name=\"hpo-HP.580002357\"> </a></td><td>Dysphasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000871<a name=\"hpo-HP.580000871\"> </a></td><td>Panhypopituitarism</td></tr><tr><td style=\"white-space:nowrap\">HP:0000233<a name=\"hpo-HP.580000233\"> </a></td><td>Thin vermilion border</td></tr><tr><td style=\"white-space:nowrap\">HP:0003281<a name=\"hpo-HP.580003281\"> </a></td><td>Increased serum ferritin</td></tr><tr><td style=\"white-space:nowrap\">HP:0010752<a name=\"hpo-HP.580010752\"> </a></td><td>Cleft mandible</td></tr><tr><td style=\"white-space:nowrap\">HP:0000437<a name=\"hpo-HP.580000437\"> </a></td><td>Depressed nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0000453<a name=\"hpo-HP.580000453\"> </a></td><td>Choanal atresia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000863<a name=\"hpo-HP.580000863\"> </a></td><td>Central diabetes insipidus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000058<a name=\"hpo-HP.580000058\"> </a></td><td>Abnormality of the labia</td></tr><tr><td style=\"white-space:nowrap\">HP:0007418<a name=\"hpo-HP.580007418\"> </a></td><td>Alopecia totalis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100765<a name=\"hpo-HP.580100765\"> </a></td><td>Abnormality of the tonsils</td></tr><tr><td style=\"white-space:nowrap\">HP:0100747<a name=\"hpo-HP.580100747\"> </a></td><td>Macrodactyly of toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002109<a name=\"hpo-HP.580002109\"> </a></td><td>obsolete Abnormality of the bronchi</td></tr><tr><td style=\"white-space:nowrap\">HP:0011950<a name=\"hpo-HP.580011950\"> </a></td><td>Bronchiolitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002850<a name=\"hpo-HP.580002850\"> </a></td><td>Decreased circulating total IgM</td></tr><tr><td style=\"white-space:nowrap\">HP:0001395<a name=\"hpo-HP.580001395\"> </a></td><td>Hepatic fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010701<a name=\"hpo-HP.580010701\"> </a></td><td>Abnormal immunoglobulin level</td></tr><tr><td style=\"white-space:nowrap\">HP:0009928<a name=\"hpo-HP.580009928\"> </a></td><td>Thick nasal alae</td></tr><tr><td style=\"white-space:nowrap\">HP:0010807<a name=\"hpo-HP.580010807\"> </a></td><td>Open bite</td></tr><tr><td style=\"white-space:nowrap\">HP:0002126<a name=\"hpo-HP.580002126\"> </a></td><td>Polymicrogyria</td></tr><tr><td style=\"white-space:nowrap\">HP:0002900<a name=\"hpo-HP.580002900\"> </a></td><td>Hypokalemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000155<a name=\"hpo-HP.580000155\"> </a></td><td>Oral ulcer</td></tr><tr><td style=\"white-space:nowrap\">HP:0000135<a name=\"hpo-HP.580000135\"> </a></td><td>Hypogonadism</td></tr><tr><td style=\"white-space:nowrap\">HP:0100783<a name=\"hpo-HP.580100783\"> </a></td><td>Breast aplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000336<a name=\"hpo-HP.580000336\"> </a></td><td>Prominent supraorbital ridges</td></tr><tr><td style=\"white-space:nowrap\">HP:0010557<a name=\"hpo-HP.580010557\"> </a></td><td>Overlapping fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0005100<a name=\"hpo-HP.580005100\"> </a></td><td>Premature birth following premature rupture of fetal membranes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002594<a name=\"hpo-HP.580002594\"> </a></td><td>Pancreatic hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010109<a name=\"hpo-HP.580010109\"> </a></td><td>Short hallux</td></tr><tr><td style=\"white-space:nowrap\">HP:0002334<a name=\"hpo-HP.580002334\"> </a></td><td>Abnormality of the cerebellar vermis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003326<a name=\"hpo-HP.580003326\"> </a></td><td>Myalgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001645<a name=\"hpo-HP.580001645\"> </a></td><td>Sudden cardiac death</td></tr><tr><td style=\"white-space:nowrap\">HP:0001612<a name=\"hpo-HP.580001612\"> </a></td><td>Weak cry</td></tr><tr><td style=\"white-space:nowrap\">HP:0001618<a name=\"hpo-HP.580001618\"> </a></td><td>Dysphonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001336<a name=\"hpo-HP.580001336\"> </a></td><td>Myoclonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001283<a name=\"hpo-HP.580001283\"> </a></td><td>Bulbar palsy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002080<a name=\"hpo-HP.580002080\"> </a></td><td>Intention tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002174<a name=\"hpo-HP.580002174\"> </a></td><td>Postural tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002064<a name=\"hpo-HP.580002064\"> </a></td><td>Spastic gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0009800<a name=\"hpo-HP.580009800\"> </a></td><td>Maternal diabetes</td></tr><tr><td style=\"white-space:nowrap\">HP:0001662<a name=\"hpo-HP.580001662\"> </a></td><td>Bradycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006595<a name=\"hpo-HP.580006595\"> </a></td><td>Scapulohumeral synostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0005815<a name=\"hpo-HP.580005815\"> </a></td><td>Supernumerary ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000307<a name=\"hpo-HP.580000307\"> </a></td><td>Pointed chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0012371<a name=\"hpo-HP.580012371\"> </a></td><td>Hyperplasia of midface</td></tr><tr><td style=\"white-space:nowrap\">HP:0002643<a name=\"hpo-HP.580002643\"> </a></td><td>Neonatal respiratory distress</td></tr><tr><td style=\"white-space:nowrap\">HP:0002093<a name=\"hpo-HP.580002093\"> </a></td><td>Respiratory insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0010310<a name=\"hpo-HP.580010310\"> </a></td><td>Chylothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0006376<a name=\"hpo-HP.580006376\"> </a></td><td>Limited elbow flexion</td></tr><tr><td style=\"white-space:nowrap\">HP:0006467<a name=\"hpo-HP.580006467\"> </a></td><td>Limited shoulder movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0010505<a name=\"hpo-HP.580010505\"> </a></td><td>Limitation of movement at ankles</td></tr><tr><td style=\"white-space:nowrap\">HP:0010501<a name=\"hpo-HP.580010501\"> </a></td><td>Limitation of knee mobility</td></tr><tr><td style=\"white-space:nowrap\">HP:0009896<a name=\"hpo-HP.580009896\"> </a></td><td>Abnormality of the antitragus</td></tr><tr><td style=\"white-space:nowrap\">HP:0004404<a name=\"hpo-HP.580004404\"> </a></td><td>Abnormal nipple morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011957<a name=\"hpo-HP.580011957\"> </a></td><td>Abnormal pectoral muscle morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000777<a name=\"hpo-HP.580000777\"> </a></td><td>Abnormality of the thymus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000418<a name=\"hpo-HP.580000418\"> </a></td><td>Narrow nasal ridge</td></tr><tr><td style=\"white-space:nowrap\">HP:0001572<a name=\"hpo-HP.580001572\"> </a></td><td>Macrodontia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002967<a name=\"hpo-HP.580002967\"> </a></td><td>Cubitus valgus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000988<a name=\"hpo-HP.580000988\"> </a></td><td>Skin rash</td></tr><tr><td style=\"white-space:nowrap\">HP:0009733<a name=\"hpo-HP.580009733\"> </a></td><td>Glioma</td></tr><tr><td style=\"white-space:nowrap\">HP:0012452<a name=\"hpo-HP.580012452\"> </a></td><td>Restless legs</td></tr><tr><td style=\"white-space:nowrap\">HP:0100031<a name=\"hpo-HP.580100031\"> </a></td><td>Neoplasm of the thyroid gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0030127<a name=\"hpo-HP.580030127\"> </a></td><td>Endometriosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000123<a name=\"hpo-HP.580000123\"> </a></td><td>Nephritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001974<a name=\"hpo-HP.580001974\"> </a></td><td>Leukocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010976<a name=\"hpo-HP.580010976\"> </a></td><td>B lymphocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000010<a name=\"hpo-HP.580000010\"> </a></td><td>Recurrent urinary tract infections</td></tr><tr><td style=\"white-space:nowrap\">HP:0100807<a name=\"hpo-HP.580100807\"> </a></td><td>Long fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0000653<a name=\"hpo-HP.580000653\"> </a></td><td>Sparse eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0000171<a name=\"hpo-HP.580000171\"> </a></td><td>Microglossia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002575<a name=\"hpo-HP.580002575\"> </a></td><td>Tracheoesophageal fistula</td></tr><tr><td style=\"white-space:nowrap\">HP:0009933<a name=\"hpo-HP.580009933\"> </a></td><td>Narrow naris</td></tr><tr><td style=\"white-space:nowrap\">HP:0000883<a name=\"hpo-HP.580000883\"> </a></td><td>Thin ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000121<a name=\"hpo-HP.580000121\"> </a></td><td>Nephrocalcinosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001349<a name=\"hpo-HP.580001349\"> </a></td><td>Facial diplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012037<a name=\"hpo-HP.580012037\"> </a></td><td>Pectoralis amyotrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100560<a name=\"hpo-HP.580100560\"> </a></td><td>Upper limb asymmetry</td></tr><tr><td style=\"white-space:nowrap\">HP:0005684<a name=\"hpo-HP.580005684\"> </a></td><td>Distal arthrogryposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0010722<a name=\"hpo-HP.580010722\"> </a></td><td>Asymmetry of the ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0009380<a name=\"hpo-HP.580009380\"> </a></td><td>Aplasia of the fingers</td></tr><tr><td style=\"white-space:nowrap\">HP:0001657<a name=\"hpo-HP.580001657\"> </a></td><td>Prolonged QT interval</td></tr><tr><td style=\"white-space:nowrap\">HP:0002040<a name=\"hpo-HP.580002040\"> </a></td><td>Esophageal varix</td></tr><tr><td style=\"white-space:nowrap\">HP:0000613<a name=\"hpo-HP.580000613\"> </a></td><td>Photophobia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000561<a name=\"hpo-HP.580000561\"> </a></td><td>Absent eyelashes</td></tr><tr><td style=\"white-space:nowrap\">HP:0002223<a name=\"hpo-HP.580002223\"> </a></td><td>Absent eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0002591<a name=\"hpo-HP.580002591\"> </a></td><td>Polyphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002373<a name=\"hpo-HP.580002373\"> </a></td><td>Febrile seizure (within the age range of 3 months to 6 years)</td></tr><tr><td style=\"white-space:nowrap\">HP:0002419<a name=\"hpo-HP.580002419\"> </a></td><td>Molar tooth sign on MRI</td></tr><tr><td style=\"white-space:nowrap\">HP:0001010<a name=\"hpo-HP.580001010\"> </a></td><td>Hypopigmentation of the skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0005772<a name=\"hpo-HP.580005772\"> </a></td><td>Aplasia/Hypoplasia of the tibia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002211<a name=\"hpo-HP.580002211\"> </a></td><td>White forelock</td></tr><tr><td style=\"white-space:nowrap\">HP:0007126<a name=\"hpo-HP.580007126\"> </a></td><td>Proximal amyotrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003798<a name=\"hpo-HP.580003798\"> </a></td><td>Nemaline bodies</td></tr><tr><td style=\"white-space:nowrap\">HP:0006533<a name=\"hpo-HP.580006533\"> </a></td><td>Bronchodysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003391<a name=\"hpo-HP.580003391\"> </a></td><td>Gowers sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0000771<a name=\"hpo-HP.580000771\"> </a></td><td>Gynecomastia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100785<a name=\"hpo-HP.580100785\"> </a></td><td>Insomnia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010529<a name=\"hpo-HP.580010529\"> </a></td><td>Echolalia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000363<a name=\"hpo-HP.580000363\"> </a></td><td>Abnormality of earlobe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002612<a name=\"hpo-HP.580002612\"> </a></td><td>Congenital hepatic fibrosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006721<a name=\"hpo-HP.580006721\"> </a></td><td>Acute lymphoblastic leukemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001958<a name=\"hpo-HP.580001958\"> </a></td><td>Nonketotic hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003457<a name=\"hpo-HP.580003457\"> </a></td><td>EMG abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0010636<a name=\"hpo-HP.580010636\"> </a></td><td>Schizencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005266<a name=\"hpo-HP.580005266\"> </a></td><td>Intestinal polyp</td></tr><tr><td style=\"white-space:nowrap\">HP:0200063<a name=\"hpo-HP.580200063\"> </a></td><td>Colorectal polyposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001762<a name=\"hpo-HP.580001762\"> </a></td><td>Talipes equinovarus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000056<a name=\"hpo-HP.580000056\"> </a></td><td>Abnormality of the clitoris</td></tr><tr><td style=\"white-space:nowrap\">HP:0008655<a name=\"hpo-HP.580008655\"> </a></td><td>Aplasia/Hypoplasia of the fallopian tube</td></tr><tr><td style=\"white-space:nowrap\">HP:0002072<a name=\"hpo-HP.580002072\"> </a></td><td>Chorea</td></tr><tr><td style=\"white-space:nowrap\">HP:0008734<a name=\"hpo-HP.580008734\"> </a></td><td>Decreased testicular size</td></tr><tr><td style=\"white-space:nowrap\">HP:0002136<a name=\"hpo-HP.580002136\"> </a></td><td>Broad-based gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0010958<a name=\"hpo-HP.580010958\"> </a></td><td>Bilateral renal agenesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002510<a name=\"hpo-HP.580002510\"> </a></td><td>Spastic tetraplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003234<a name=\"hpo-HP.580003234\"> </a></td><td>Decreased plasma carnitine</td></tr><tr><td style=\"white-space:nowrap\">HP:0000720<a name=\"hpo-HP.580000720\"> </a></td><td>Mood swings</td></tr><tr><td style=\"white-space:nowrap\">HP:0012638<a name=\"hpo-HP.580012638\"> </a></td><td>Abnormal nervous system physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002803<a name=\"hpo-HP.580002803\"> </a></td><td>Congenital contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0000152<a name=\"hpo-HP.580000152\"> </a></td><td>Abnormality of head or neck</td></tr><tr><td style=\"white-space:nowrap\">HP:0004377<a name=\"hpo-HP.580004377\"> </a></td><td>Hematological neoplasm</td></tr><tr><td style=\"white-space:nowrap\">HP:0100006<a name=\"hpo-HP.580100006\"> </a></td><td>Neoplasm of the central nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0012759<a name=\"hpo-HP.580012759\"> </a></td><td>Neurodevelopmental abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0011805<a name=\"hpo-HP.580011805\"> </a></td><td>Abnormal skeletal muscle morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0003634<a name=\"hpo-HP.580003634\"> </a></td><td>Amyoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001507<a name=\"hpo-HP.580001507\"> </a></td><td>Growth abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0001939<a name=\"hpo-HP.580001939\"> </a></td><td>Abnormality of metabolism/homeostasis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011013<a name=\"hpo-HP.580011013\"> </a></td><td>Abnormal circulating carbohydrate concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0410008<a name=\"hpo-HP.580410008\"> </a></td><td>Abnormality of the peripheral nervous system</td></tr><tr><td style=\"white-space:nowrap\">HP:0200134<a name=\"hpo-HP.580200134\"> </a></td><td>Epileptic encephalopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001881<a name=\"hpo-HP.580001881\"> </a></td><td>Abnormal leukocyte morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0005549<a name=\"hpo-HP.580005549\"> </a></td><td>obsolete Congenital neutropenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004439<a name=\"hpo-HP.580004439\"> </a></td><td>Craniofacial dysostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012443<a name=\"hpo-HP.580012443\"> </a></td><td>Abnormality of brain morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000202<a name=\"hpo-HP.580000202\"> </a></td><td>Oral cleft</td></tr><tr><td style=\"white-space:nowrap\">HP:0011842<a name=\"hpo-HP.580011842\"> </a></td><td>Abnormality of skeletal morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0003808<a name=\"hpo-HP.580003808\"> </a></td><td>Abnormal muscle tone</td></tr><tr><td style=\"white-space:nowrap\">HP:0001574<a name=\"hpo-HP.580001574\"> </a></td><td>Abnormality of the integument</td></tr><tr><td style=\"white-space:nowrap\">HP:0030056<a name=\"hpo-HP.580030056\"> </a></td><td>Uncombable hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0003549<a name=\"hpo-HP.580003549\"> </a></td><td>Abnormality of connective tissue</td></tr><tr><td style=\"white-space:nowrap\">HP:0030875<a name=\"hpo-HP.580030875\"> </a></td><td>Abnormality of pulmonary circulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000118<a name=\"hpo-HP.580000118\"> </a></td><td>Phenotypic abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0012469<a name=\"hpo-HP.580012469\"> </a></td><td>Infantile spasms</td></tr><tr><td style=\"white-space:nowrap\">HP:0032894<a name=\"hpo-HP.580032894\"> </a></td><td>Seizure precipitated by febrile infection</td></tr><tr><td style=\"white-space:nowrap\">HP:0100661<a name=\"hpo-HP.580100661\"> </a></td><td>Trigeminal neuralgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012207<a name=\"hpo-HP.580012207\"> </a></td><td>Reduced sperm motility</td></tr><tr><td style=\"white-space:nowrap\">HP:0000798<a name=\"hpo-HP.580000798\"> </a></td><td>Oligospermia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012864<a name=\"hpo-HP.580012864\"> </a></td><td>Abnormal sperm morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008232<a name=\"hpo-HP.580008232\"> </a></td><td>Elevated circulating follicle stimulating hormone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0040306<a name=\"hpo-HP.580040306\"> </a></td><td>Decreased male libido</td></tr><tr><td style=\"white-space:nowrap\">HP:0012208<a name=\"hpo-HP.580012208\"> </a></td><td>Immotile sperm</td></tr><tr><td style=\"white-space:nowrap\">HP:0000027<a name=\"hpo-HP.580000027\"> </a></td><td>Azoospermia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000870<a name=\"hpo-HP.580000870\"> </a></td><td>Increased circulating prolactin concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0008187<a name=\"hpo-HP.580008187\"> </a></td><td>Absence of secondary sex characteristics</td></tr><tr><td style=\"white-space:nowrap\">HP:0010469<a name=\"hpo-HP.580010469\"> </a></td><td>Absent testis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011969<a name=\"hpo-HP.580011969\"> </a></td><td>Elevated circulating luteinizing hormone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0040171<a name=\"hpo-HP.580040171\"> </a></td><td>Decreased serum testosterone level</td></tr><tr><td style=\"white-space:nowrap\">HP:0003251<a name=\"hpo-HP.580003251\"> </a></td><td>Male infertility</td></tr><tr><td style=\"white-space:nowrap\">HP:0009804<a name=\"hpo-HP.580009804\"> </a></td><td>Reduced number of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0000548<a name=\"hpo-HP.580000548\"> </a></td><td>Cone/cone-rod dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000546<a name=\"hpo-HP.580000546\"> </a></td><td>Retinal degeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0008002<a name=\"hpo-HP.580008002\"> </a></td><td>Abnormality of macular pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000608<a name=\"hpo-HP.580000608\"> </a></td><td>Macular degeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0030611<a name=\"hpo-HP.580030611\"> </a></td><td>Retinal pigment epithelial loss on macular OCT</td></tr><tr><td style=\"white-space:nowrap\">HP:0001135<a name=\"hpo-HP.580001135\"> </a></td><td>Chorioretinal dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0030468<a name=\"hpo-HP.580030468\"> </a></td><td>Abnormal multifocal electroretinogram</td></tr><tr><td style=\"white-space:nowrap\">HP:00030532<a name=\"hpo-HP.5800030532\"> </a></td><td>Visual acuity test abnormality</td></tr><tr><td style=\"white-space:nowrap\">HP:0007401<a name=\"hpo-HP.580007401\"> </a></td><td>Macular atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0030466<a name=\"hpo-HP.580030466\"> </a></td><td>Abnormal full-field electroretinogram</td></tr><tr><td style=\"white-space:nowrap\">HP:007737<a name=\"hpo-HP.58007737\"> </a></td><td>Bone spicule pigmentation of the retina</td></tr><tr><td style=\"white-space:nowrap\">HP:0011342<a name=\"hpo-HP.580011342\"> </a></td><td>Mild global developmental delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0030610<a name=\"hpo-HP.580030610\"> </a></td><td>Photoreceptor outer segment loss on macular OCT</td></tr><tr><td style=\"white-space:nowrap\">HP:0007722<a name=\"hpo-HP.580007722\"> </a></td><td>Retinal pigment epithelial atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0030493<a name=\"hpo-HP.580030493\"> </a></td><td>Abnormality of foveal pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0007843<a name=\"hpo-HP.580007843\"> </a></td><td>Attenuation of retinal blood vessels</td></tr><tr><td style=\"white-space:nowrap\">HP:0007754<a name=\"hpo-HP.580007754\"> </a></td><td>Macular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011509<a name=\"hpo-HP.580011509\"> </a></td><td>Macular hyperpigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0008527<a name=\"hpo-HP.580008527\"> </a></td><td>Congenital sensorineural hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0200070<a name=\"hpo-HP.580200070\"> </a></td><td>Peripheral retinal atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0007793<a name=\"hpo-HP.580007793\"> </a></td><td>Granular macular appearance</td></tr><tr><td style=\"white-space:nowrap\">HP:0007987<a name=\"hpo-HP.580007987\"> </a></td><td>Progressive visual field defects</td></tr><tr><td style=\"white-space:nowrap\">HP:0100817<a name=\"hpo-HP.580100817\"> </a></td><td>Renovascular hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0007868<a name=\"hpo-HP.580007868\"> </a></td><td>obsolete Age-related macular degeneration</td></tr><tr><td style=\"white-space:nowrap\">HP:0030527<a name=\"hpo-HP.580030527\"> </a></td><td>Very severe constriction of peripheral visual field</td></tr><tr><td style=\"white-space:nowrap\">HP:0030551<a name=\"hpo-HP.580030551\"> </a></td><td>Visual acuity light perception with projection</td></tr><tr><td style=\"white-space:nowrap\">HP:0011505<a name=\"hpo-HP.580011505\"> </a></td><td>Cystoid macular edema</td></tr><tr><td style=\"white-space:nowrap\">HP:0010442<a name=\"hpo-HP.580010442\"> </a></td><td>Polydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0007642<a name=\"hpo-HP.580007642\"> </a></td><td>Congenital stationary night blindness</td></tr><tr><td style=\"white-space:nowrap\">HP:0009073<a name=\"hpo-HP.580009073\"> </a></td><td>Progressive proximal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003741<a name=\"hpo-HP.580003741\"> </a></td><td>Congenital muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0100299<a name=\"hpo-HP.580100299\"> </a></td><td>Muscle fiber inclusion bodies</td></tr><tr><td style=\"white-space:nowrap\">HP:0003540<a name=\"hpo-HP.580003540\"> </a></td><td>Impaired platelet aggregation</td></tr><tr><td style=\"white-space:nowrap\">HP:0010489<a name=\"hpo-HP.580010489\"> </a></td><td>Absent palmar crease</td></tr><tr><td style=\"white-space:nowrap\">HP:0009824<a name=\"hpo-HP.580009824\"> </a></td><td>Upper limb undergrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0002395<a name=\"hpo-HP.580002395\"> </a></td><td>Lower limb hyperreflexia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001138<a name=\"hpo-HP.580001138\"> </a></td><td>Optic neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0007103<a name=\"hpo-HP.580007103\"> </a></td><td>Hypointensity of cerebral white matter on MRI</td></tr><tr><td style=\"white-space:nowrap\">HP:0003458<a name=\"hpo-HP.580003458\"> </a></td><td>EMG: myopathic abnormalities</td></tr><tr><td style=\"white-space:nowrap\">HP:0002987<a name=\"hpo-HP.580002987\"> </a></td><td>Elbow flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0006466<a name=\"hpo-HP.580006466\"> </a></td><td>Ankle flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0008458<a name=\"hpo-HP.580008458\"> </a></td><td>Progressive congenital scoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000473<a name=\"hpo-HP.580000473\"> </a></td><td>Torticollis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011800<a name=\"hpo-HP.580011800\"> </a></td><td>Midface retrusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0000597<a name=\"hpo-HP.580000597\"> </a></td><td>Ophthalmoparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0005853<a name=\"hpo-HP.580005853\"> </a></td><td>Congenital foot contraction deformities</td></tr><tr><td style=\"white-space:nowrap\">HP:0007002<a name=\"hpo-HP.580007002\"> </a></td><td>Motor axonal neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003327<a name=\"hpo-HP.580003327\"> </a></td><td>Axial muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003306<a name=\"hpo-HP.580003306\"> </a></td><td>Spinal rigidity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002068<a name=\"hpo-HP.580002068\"> </a></td><td>Neuromuscular dysphagia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001002<a name=\"hpo-HP.580001002\"> </a></td><td>obsolete Decreased subcutaneous fat</td></tr><tr><td style=\"white-space:nowrap\">HP:0002880<a name=\"hpo-HP.580002880\"> </a></td><td>obsolete Respiratory difficulties</td></tr><tr><td style=\"white-space:nowrap\">HP:0006829<a name=\"hpo-HP.580006829\"> </a></td><td>Severe muscular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011448<a name=\"hpo-HP.580011448\"> </a></td><td>Ankle clonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0003487<a name=\"hpo-HP.580003487\"> </a></td><td>Babinski sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0002378<a name=\"hpo-HP.580002378\"> </a></td><td>Hand tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002747<a name=\"hpo-HP.580002747\"> </a></td><td>Respiratory insufficiency due to muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002579<a name=\"hpo-HP.580002579\"> </a></td><td>Gastrointestinal dysmotility</td></tr><tr><td style=\"white-space:nowrap\">HP:0001041<a name=\"hpo-HP.580001041\"> </a></td><td>Facial erythema</td></tr><tr><td style=\"white-space:nowrap\">HP:0040180<a name=\"hpo-HP.580040180\"> </a></td><td>Hyperkeratosis pilaris</td></tr><tr><td style=\"white-space:nowrap\">HP:0001382<a name=\"hpo-HP.580001382\"> </a></td><td>Joint hypermobility</td></tr><tr><td style=\"white-space:nowrap\">HP:0003722<a name=\"hpo-HP.580003722\"> </a></td><td>Neck flexor weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003323<a name=\"hpo-HP.580003323\"> </a></td><td>Progressive muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002380<a name=\"hpo-HP.580002380\"> </a></td><td>Fasciculations</td></tr><tr><td style=\"white-space:nowrap\">HP:0012785<a name=\"hpo-HP.580012785\"> </a></td><td>Flexion contracture of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0007936<a name=\"hpo-HP.580007936\"> </a></td><td>Restrictive external ophthalmoplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0030319<a name=\"hpo-HP.580030319\"> </a></td><td>Weakness of facial musculature</td></tr><tr><td style=\"white-space:nowrap\">HP:0008936<a name=\"hpo-HP.580008936\"> </a></td><td>Muscular hypotonia of the trunk</td></tr><tr><td style=\"white-space:nowrap\">HP:0030230<a name=\"hpo-HP.580030230\"> </a></td><td>Central core regions in muscle fibers</td></tr><tr><td style=\"white-space:nowrap\">HP:0011471<a name=\"hpo-HP.580011471\"> </a></td><td>Gastrostomy tube feeding in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001290<a name=\"hpo-HP.580001290\"> </a></td><td>Generalized hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002421<a name=\"hpo-HP.580002421\"> </a></td><td>Poor head control</td></tr><tr><td style=\"white-space:nowrap\">HP:0010301<a name=\"hpo-HP.580010301\"> </a></td><td>Spinal dysraphism</td></tr><tr><td style=\"white-space:nowrap\">HP:0004303<a name=\"hpo-HP.580004303\"> </a></td><td>Abnormal muscle fiber morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009046<a name=\"hpo-HP.580009046\"> </a></td><td>Difficulty running</td></tr><tr><td style=\"white-space:nowrap\">HP:0003715<a name=\"hpo-HP.580003715\"> </a></td><td>Myofibrillar myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000467<a name=\"hpo-HP.580000467\"> </a></td><td>Neck muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0001999<a name=\"hpo-HP.580001999\"> </a></td><td>Abnormal facial shape</td></tr><tr><td style=\"white-space:nowrap\">HP:0002751<a name=\"hpo-HP.580002751\"> </a></td><td>Kyphoscoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0030223<a name=\"hpo-HP.580030223\"> </a></td><td>Perseveration</td></tr><tr><td style=\"white-space:nowrap\">HP:0002344<a name=\"hpo-HP.580002344\"> </a></td><td>Progressive neurologic deterioration</td></tr><tr><td style=\"white-space:nowrap\">HP:0002522<a name=\"hpo-HP.580002522\"> </a></td><td>Areflexia of lower limbs</td></tr><tr><td style=\"white-space:nowrap\">HP:0003805<a name=\"hpo-HP.580003805\"> </a></td><td>Rimmed vacuoles</td></tr><tr><td style=\"white-space:nowrap\">HP:0005781<a name=\"hpo-HP.580005781\"> </a></td><td>Contractures of the large joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0040083<a name=\"hpo-HP.580040083\"> </a></td><td>Toe walking</td></tr><tr><td style=\"white-space:nowrap\">HP:0003749<a name=\"hpo-HP.580003749\"> </a></td><td>Pelvic girdle muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0012444<a name=\"hpo-HP.580012444\"> </a></td><td>Brain atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003738<a name=\"hpo-HP.580003738\"> </a></td><td>Exercise-induced myalgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003756<a name=\"hpo-HP.580003756\"> </a></td><td>Skeletal myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002492<a name=\"hpo-HP.580002492\"> </a></td><td>Morphological abnormality of the corticospinal tract</td></tr><tr><td style=\"white-space:nowrap\">HP:0100302<a name=\"hpo-HP.580100302\"> </a></td><td>Muscle fiber tubuloreticular inclusions</td></tr><tr><td style=\"white-space:nowrap\">HP:0006817<a name=\"hpo-HP.580006817\"> </a></td><td>Aplasia/Hypoplasia of the cerebellar vermis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003473<a name=\"hpo-HP.580003473\"> </a></td><td>Fatigable weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002077<a name=\"hpo-HP.580002077\"> </a></td><td>Migraine with aura</td></tr><tr><td style=\"white-space:nowrap\">HP:0100559<a name=\"hpo-HP.580100559\"> </a></td><td>Lower limb asymmetry</td></tr><tr><td style=\"white-space:nowrap\">HP:0002079<a name=\"hpo-HP.580002079\"> </a></td><td>Hypoplasia of the corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0002804<a name=\"hpo-HP.580002804\"> </a></td><td>Arthrogryposis multiplex congenita</td></tr><tr><td style=\"white-space:nowrap\">HP:0011623<a name=\"hpo-HP.580011623\"> </a></td><td>Muscular ventricular septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0002191<a name=\"hpo-HP.580002191\"> </a></td><td>Progressive spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003390<a name=\"hpo-HP.580003390\"> </a></td><td>Sensory axonal neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006986<a name=\"hpo-HP.580006986\"> </a></td><td>Upper limb spasticity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002464<a name=\"hpo-HP.580002464\"> </a></td><td>Spastic dysarthria</td></tr><tr><td style=\"white-space:nowrap\">HP:0001308<a name=\"hpo-HP.580001308\"> </a></td><td>Tongue fasciculations</td></tr><tr><td style=\"white-space:nowrap\">HP:0007010<a name=\"hpo-HP.580007010\"> </a></td><td>Poor fine motor coordination</td></tr><tr><td style=\"white-space:nowrap\">HP:0003737<a name=\"hpo-HP.580003737\"> </a></td><td>Mitochondrial myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0008012<a name=\"hpo-HP.580008012\"> </a></td><td>obsolete Congenital myopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008872<a name=\"hpo-HP.580008872\"> </a></td><td>Feeding difficulties in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005750<a name=\"hpo-HP.580005750\"> </a></td><td>Contractures of the joints of the lower limbs</td></tr><tr><td style=\"white-space:nowrap\">HP:0009067<a name=\"hpo-HP.580009067\"> </a></td><td>Progressive spinal muscular atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001623<a name=\"hpo-HP.580001623\"> </a></td><td>Breech presentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001374<a name=\"hpo-HP.580001374\"> </a></td><td>Congenital hip dislocation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002359<a name=\"hpo-HP.580002359\"> </a></td><td>Frequent falls</td></tr><tr><td style=\"white-space:nowrap\">HP:0003803<a name=\"hpo-HP.580003803\"> </a></td><td>Type 1 muscle fiber predominance</td></tr><tr><td style=\"white-space:nowrap\">HP:0011410<a name=\"hpo-HP.580011410\"> </a></td><td>Caesarian section</td></tr><tr><td style=\"white-space:nowrap\">HP:0008947<a name=\"hpo-HP.580008947\"> </a></td><td>Infantile muscular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100501<a name=\"hpo-HP.580100501\"> </a></td><td>Recurrent bronchiolitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003789<a name=\"hpo-HP.580003789\"> </a></td><td>Minicore myopathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000544<a name=\"hpo-HP.580000544\"> </a></td><td>External ophthalmoplegia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001605<a name=\"hpo-HP.580001605\"> </a></td><td>Vocal cord paralysis</td></tr><tr><td style=\"white-space:nowrap\">HP:0003712<a name=\"hpo-HP.580003712\"> </a></td><td>Skeletal muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0012507<a name=\"hpo-HP.580012507\"> </a></td><td>Weakness of orbicularis oculi muscle</td></tr><tr><td style=\"white-space:nowrap\">HP:0009816<a name=\"hpo-HP.580009816\"> </a></td><td>Lower limb undergrowth</td></tr><tr><td style=\"white-space:nowrap\">HP:0008935<a name=\"hpo-HP.580008935\"> </a></td><td>Generalized neonatal hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003484<a name=\"hpo-HP.580003484\"> </a></td><td>Upper limb muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0008331<a name=\"hpo-HP.580008331\"> </a></td><td>Elevated creatine kinase after exercise</td></tr><tr><td style=\"white-space:nowrap\">HP:0001315<a name=\"hpo-HP.580001315\"> </a></td><td>Reduced tendon reflexes</td></tr><tr><td style=\"white-space:nowrap\">HP:0012473<a name=\"hpo-HP.580012473\"> </a></td><td>Tongue atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0003273<a name=\"hpo-HP.580003273\"> </a></td><td>Hip contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0006380<a name=\"hpo-HP.580006380\"> </a></td><td>Knee flexion contracture</td></tr><tr><td style=\"white-space:nowrap\">HP:0003752<a name=\"hpo-HP.580003752\"> </a></td><td>Episodic flaccid weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0100298<a name=\"hpo-HP.580100298\"> </a></td><td>Motheaten muscle fibers</td></tr><tr><td style=\"white-space:nowrap\">HP:0003693<a name=\"hpo-HP.580003693\"> </a></td><td>Distal amyotrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002167<a name=\"hpo-HP.580002167\"> </a></td><td>Neurological speech impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0003388<a name=\"hpo-HP.580003388\"> </a></td><td>Easy fatigability</td></tr><tr><td style=\"white-space:nowrap\">HP:0001348<a name=\"hpo-HP.580001348\"> </a></td><td>Brisk reflexes</td></tr><tr><td style=\"white-space:nowrap\">HP:0003445<a name=\"hpo-HP.580003445\"> </a></td><td>EMG: neuropathic changes</td></tr><tr><td style=\"white-space:nowrap\">HP:0009063<a name=\"hpo-HP.580009063\"> </a></td><td>Progressive distal muscle weakness</td></tr><tr><td style=\"white-space:nowrap\">HP:0003720<a name=\"hpo-HP.580003720\"> </a></td><td>Generalized muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002493<a name=\"hpo-HP.580002493\"> </a></td><td>Upper motor neuron dysfunction</td></tr><tr><td style=\"white-space:nowrap\">HP:0012448<a name=\"hpo-HP.580012448\"> </a></td><td>Delayed myelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0001338<a name=\"hpo-HP.580001338\"> </a></td><td>Partial agenesis of the corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0006879<a name=\"hpo-HP.580006879\"> </a></td><td>Pontocerebellar atrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0200101<a name=\"hpo-HP.580200101\"> </a></td><td>Decreased/absent ankle reflexes</td></tr><tr><td style=\"white-space:nowrap\">HP:0009020<a name=\"hpo-HP.580009020\"> </a></td><td>Exercise-induced muscle fatigue</td></tr><tr><td style=\"white-space:nowrap\">HP:0002067<a name=\"hpo-HP.580002067\"> </a></td><td>Bradykinesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012751<a name=\"hpo-HP.580012751\"> </a></td><td>Abnormal basal ganglia MRI signal intensity</td></tr><tr><td style=\"white-space:nowrap\">HP:0003355<a name=\"hpo-HP.580003355\"> </a></td><td>Aminoaciduria</td></tr><tr><td style=\"white-space:nowrap\">HP:0012450<a name=\"hpo-HP.580012450\"> </a></td><td>Chronic constipation</td></tr><tr><td style=\"white-space:nowrap\">HP:0011834<a name=\"hpo-HP.580011834\"> </a></td><td>Moyamoya phenomenon</td></tr><tr><td style=\"white-space:nowrap\">HP:0001297<a name=\"hpo-HP.580001297\"> </a></td><td>Stroke</td></tr><tr><td style=\"white-space:nowrap\">HP:0200049<a name=\"hpo-HP.580200049\"> </a></td><td>Upper limb hypertonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008981<a name=\"hpo-HP.580008981\"> </a></td><td>Calf muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006785<a name=\"hpo-HP.580006785\"> </a></td><td>Limb-girdle muscular dystrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006957<a name=\"hpo-HP.580006957\"> </a></td><td>Loss of ability to walk</td></tr><tr><td style=\"white-space:nowrap\">HP:0030098<a name=\"hpo-HP.580030098\"> </a></td><td>Reduced muscle dystrophin expression</td></tr><tr><td style=\"white-space:nowrap\">HP:0030115<a name=\"hpo-HP.580030115\"> </a></td><td>Reduced muscle fiber dysferlin</td></tr><tr><td style=\"white-space:nowrap\">HP:0002058<a name=\"hpo-HP.580002058\"> </a></td><td>Myopathic facies</td></tr><tr><td style=\"white-space:nowrap\">HP:0007858<a name=\"hpo-HP.580007858\"> </a></td><td>Chorioretinal lacunae</td></tr><tr><td style=\"white-space:nowrap\">HP:0006657<a name=\"hpo-HP.580006657\"> </a></td><td>Hypoplasia of first ribs</td></tr><tr><td style=\"white-space:nowrap\">HP:0007165<a name=\"hpo-HP.580007165\"> </a></td><td>Periventricular heterotopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0009779<a name=\"hpo-HP.580009779\"> </a></td><td>3-4 toe syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010665<a name=\"hpo-HP.580010665\"> </a></td><td>Bilateral coxa valga</td></tr><tr><td style=\"white-space:nowrap\">HP:0007598<a name=\"hpo-HP.580007598\"> </a></td><td>Bilateral single transverse palmar creases</td></tr><tr><td style=\"white-space:nowrap\">HP:0006101<a name=\"hpo-HP.580006101\"> </a></td><td>Finger syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010511<a name=\"hpo-HP.580010511\"> </a></td><td>Long toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002370<a name=\"hpo-HP.580002370\"> </a></td><td>Poor coordination</td></tr><tr><td style=\"white-space:nowrap\">HP:0000480<a name=\"hpo-HP.580000480\"> </a></td><td>Retinal coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001770<a name=\"hpo-HP.580001770\"> </a></td><td>Toe syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010851<a name=\"hpo-HP.580010851\"> </a></td><td>EEG with burst suppression</td></tr><tr><td style=\"white-space:nowrap\">HP:0002791<a name=\"hpo-HP.580002791\"> </a></td><td>Hypoventilation</td></tr><tr><td style=\"white-space:nowrap\">HP:0040075<a name=\"hpo-HP.580040075\"> </a></td><td>Hypopituitarism</td></tr><tr><td style=\"white-space:nowrap\">HP:0012506<a name=\"hpo-HP.580012506\"> </a></td><td>Small pituitary gland</td></tr><tr><td style=\"white-space:nowrap\">HP:0000538<a name=\"hpo-HP.580000538\"> </a></td><td>Pseudopapilledema</td></tr><tr><td style=\"white-space:nowrap\">HP:0012717<a name=\"hpo-HP.580012717\"> </a></td><td>Severe conductive hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001370<a name=\"hpo-HP.580001370\"> </a></td><td>Rheumatoid arthritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000016<a name=\"hpo-HP.580000016\"> </a></td><td>Urinary retention</td></tr><tr><td style=\"white-space:nowrap\">HP:0012537<a name=\"hpo-HP.580012537\"> </a></td><td>Food intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0011297<a name=\"hpo-HP.580011297\"> </a></td><td>Abnormal digit morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001273<a name=\"hpo-HP.580001273\"> </a></td><td>Abnormal corpus callosum morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0030148<a name=\"hpo-HP.580030148\"> </a></td><td>Heart murmur</td></tr><tr><td style=\"white-space:nowrap\">HP:0045018<a name=\"hpo-HP.580045018\"> </a></td><td>Partial duplication of eyebrows</td></tr><tr><td style=\"white-space:nowrap\">HP:0008998<a name=\"hpo-HP.580008998\"> </a></td><td>Pectoralis hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001707<a name=\"hpo-HP.580001707\"> </a></td><td>Abnormal right ventricle morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0001540<a name=\"hpo-HP.580001540\"> </a></td><td>Diastasis recti</td></tr><tr><td style=\"white-space:nowrap\">HP:0100693<a name=\"hpo-HP.580100693\"> </a></td><td>Iridodonesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002265<a name=\"hpo-HP.580002265\"> </a></td><td>Large fleshy ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0001132<a name=\"hpo-HP.580001132\"> </a></td><td>Lens subluxation</td></tr><tr><td style=\"white-space:nowrap\">HP:0004927<a name=\"hpo-HP.580004927\"> </a></td><td>Pulmonary artery dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005619<a name=\"hpo-HP.580005619\"> </a></td><td>Thoracolumbar kyphosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008619<a name=\"hpo-HP.580008619\"> </a></td><td>Bilateral sensorineural hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0001045<a name=\"hpo-HP.580001045\"> </a></td><td>Vitiligo</td></tr><tr><td style=\"white-space:nowrap\">HP:0009124<a name=\"hpo-HP.580009124\"> </a></td><td>Abnormal adipose tissue morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002979<a name=\"hpo-HP.580002979\"> </a></td><td>Bowing of the legs</td></tr><tr><td style=\"white-space:nowrap\">HP:0000455<a name=\"hpo-HP.580000455\"> </a></td><td>Broad nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001007<a name=\"hpo-HP.580001007\"> </a></td><td>Hirsutism</td></tr><tr><td style=\"white-space:nowrap\">HP:0010314<a name=\"hpo-HP.580010314\"> </a></td><td>Premature thelarche</td></tr><tr><td style=\"white-space:nowrap\">HP:0000075<a name=\"hpo-HP.580000075\"> </a></td><td>Renal duplication</td></tr><tr><td style=\"white-space:nowrap\">HP:0000368<a name=\"hpo-HP.580000368\"> </a></td><td>Low-set, posteriorly rotated ears</td></tr><tr><td style=\"white-space:nowrap\">HP:0001052<a name=\"hpo-HP.580001052\"> </a></td><td>Nevus flammeus</td></tr><tr><td style=\"white-space:nowrap\">HP:0200048<a name=\"hpo-HP.580200048\"> </a></td><td>Cyanotic episode</td></tr><tr><td style=\"white-space:nowrap\">HP:0001902<a name=\"hpo-HP.580001902\"> </a></td><td>Giant platelets</td></tr><tr><td style=\"white-space:nowrap\">HP:0030043<a name=\"hpo-HP.580030043\"> </a></td><td>Hip subluxation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002938<a name=\"hpo-HP.580002938\"> </a></td><td>Lumbar hyperlordosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0030084<a name=\"hpo-HP.580030084\"> </a></td><td>Clinodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005560<a name=\"hpo-HP.580005560\"> </a></td><td>Imbalanced hemoglobin synthesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001539<a name=\"hpo-HP.580001539\"> </a></td><td>Omphalocele</td></tr><tr><td style=\"white-space:nowrap\">HP:0009778<a name=\"hpo-HP.580009778\"> </a></td><td>Short thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0002277<a name=\"hpo-HP.580002277\"> </a></td><td>Horner syndrome</td></tr><tr><td style=\"white-space:nowrap\">HP:0011701<a name=\"hpo-HP.580011701\"> </a></td><td>Multifocal atrial tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005274<a name=\"hpo-HP.580005274\"> </a></td><td>Prominent nasal tip</td></tr><tr><td style=\"white-space:nowrap\">HP:0001262<a name=\"hpo-HP.580001262\"> </a></td><td>Excessive daytime somnolence</td></tr><tr><td style=\"white-space:nowrap\">HP:0001285<a name=\"hpo-HP.580001285\"> </a></td><td>Spastic tetraparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012171<a name=\"hpo-HP.580012171\"> </a></td><td>Stereotypical hand wringing</td></tr><tr><td style=\"white-space:nowrap\">HP:0002518<a name=\"hpo-HP.580002518\"> </a></td><td>Abnormality of the periventricular white matter</td></tr><tr><td style=\"white-space:nowrap\">HP:0005692<a name=\"hpo-HP.580005692\"> </a></td><td>Joint hyperflexibility</td></tr><tr><td style=\"white-space:nowrap\">HP:0007440<a name=\"hpo-HP.580007440\"> </a></td><td>Generalized hyperpigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0001805<a name=\"hpo-HP.580001805\"> </a></td><td>Onychogryposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011945<a name=\"hpo-HP.580011945\"> </a></td><td>Bronchiolitis obliterans organizing pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003763<a name=\"hpo-HP.580003763\"> </a></td><td>Bruxism</td></tr><tr><td style=\"white-space:nowrap\">HP:0010500<a name=\"hpo-HP.580010500\"> </a></td><td>Hyperextensibility of the knee</td></tr><tr><td style=\"white-space:nowrap\">HP:0040115<a name=\"hpo-HP.580040115\"> </a></td><td>Abnormality of the Eustachian tube</td></tr><tr><td style=\"white-space:nowrap\">HP:0008751<a name=\"hpo-HP.580008751\"> </a></td><td>Laryngeal cleft</td></tr><tr><td style=\"white-space:nowrap\">HP:0000403<a name=\"hpo-HP.580000403\"> </a></td><td>Recurrent otitis media</td></tr><tr><td style=\"white-space:nowrap\">HP:0001787<a name=\"hpo-HP.580001787\"> </a></td><td>Abnormal delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0002571<a name=\"hpo-HP.580002571\"> </a></td><td>Achalasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002615<a name=\"hpo-HP.580002615\"> </a></td><td>Hypotension</td></tr><tr><td style=\"white-space:nowrap\">HP:0003550<a name=\"hpo-HP.580003550\"> </a></td><td>Predominantly lower limb lymphedema</td></tr><tr><td style=\"white-space:nowrap\">HP:0030363<a name=\"hpo-HP.580030363\"> </a></td><td>Primary Caesarian section</td></tr><tr><td style=\"white-space:nowrap\">HP:0001727<a name=\"hpo-HP.580001727\"> </a></td><td>Thromboembolic stroke</td></tr><tr><td style=\"white-space:nowrap\">HP:0100603<a name=\"hpo-HP.580100603\"> </a></td><td>Toxemia of pregnancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0010836<a name=\"hpo-HP.580010836\"> </a></td><td>Abnormal circulating copper concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0000356<a name=\"hpo-HP.580000356\"> </a></td><td>Abnormality of the outer ear</td></tr><tr><td style=\"white-space:nowrap\">HP:0002197<a name=\"hpo-HP.580002197\"> </a></td><td>Generalized-onset seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0011436<a name=\"hpo-HP.580011436\"> </a></td><td>Abnormal maternal serum screening</td></tr><tr><td style=\"white-space:nowrap\">HP:0003517<a name=\"hpo-HP.580003517\"> </a></td><td>Birth length greater than 97th percentile</td></tr><tr><td style=\"white-space:nowrap\">HP:0003561<a name=\"hpo-HP.580003561\"> </a></td><td>Birth length less than 3rd percentile</td></tr><tr><td style=\"white-space:nowrap\">HP:0012188<a name=\"hpo-HP.580012188\"> </a></td><td>Hyperemesis gravidarum</td></tr><tr><td style=\"white-space:nowrap\">HP:0010519<a name=\"hpo-HP.580010519\"> </a></td><td>Increased fetal movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0030244<a name=\"hpo-HP.580030244\"> </a></td><td>Maternal fever in pregnancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0008071<a name=\"hpo-HP.580008071\"> </a></td><td>Maternal hypertension</td></tr><tr><td style=\"white-space:nowrap\">HP:0100622<a name=\"hpo-HP.580100622\"> </a></td><td>Maternal seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0011438<a name=\"hpo-HP.580011438\"> </a></td><td>Maternal teratogenic exposure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001998<a name=\"hpo-HP.580001998\"> </a></td><td>Neonatal hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0040187<a name=\"hpo-HP.580040187\"> </a></td><td>Neonatal sepsis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002033<a name=\"hpo-HP.580002033\"> </a></td><td>Poor suck</td></tr><tr><td style=\"white-space:nowrap\">HP:0006579<a name=\"hpo-HP.580006579\"> </a></td><td>Prolonged neonatal jaundice</td></tr><tr><td style=\"white-space:nowrap\">HP:0001724<a name=\"hpo-HP.580001724\"> </a></td><td>obsolete Aortic dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0010621<a name=\"hpo-HP.580010621\"> </a></td><td>Cutaneous syndactyly of toes</td></tr><tr><td style=\"white-space:nowrap\">HP:0001880<a name=\"hpo-HP.580001880\"> </a></td><td>Eosinophilia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000162<a name=\"hpo-HP.580000162\"> </a></td><td>Glossoptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100578<a name=\"hpo-HP.580100578\"> </a></td><td>Lipoatrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0002562<a name=\"hpo-HP.580002562\"> </a></td><td>Low-set nipples</td></tr><tr><td style=\"white-space:nowrap\">HP:0012893<a name=\"hpo-HP.580012893\"> </a></td><td>Neck muscle hypertrophy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001027<a name=\"hpo-HP.580001027\"> </a></td><td>Soft, doughy skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0100738<a name=\"hpo-HP.580100738\"> </a></td><td>Abnormal eating behavior</td></tr><tr><td style=\"white-space:nowrap\">HP:0007328<a name=\"hpo-HP.580007328\"> </a></td><td>Impaired pain sensation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002878<a name=\"hpo-HP.580002878\"> </a></td><td>Respiratory failure</td></tr><tr><td style=\"white-space:nowrap\">HP:0001776<a name=\"hpo-HP.580001776\"> </a></td><td>Bilateral talipes equinovarus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001360<a name=\"hpo-HP.580001360\"> </a></td><td>Holoprosencephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0001973<a name=\"hpo-HP.580001973\"> </a></td><td>Autoimmune thrombocytopenia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100749<a name=\"hpo-HP.580100749\"> </a></td><td>Chest pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0012531<a name=\"hpo-HP.580012531\"> </a></td><td>Pain</td></tr><tr><td style=\"white-space:nowrap\">HP:0007585<a name=\"hpo-HP.580007585\"> </a></td><td>Skin fragility with non-scarring blistering</td></tr><tr><td style=\"white-space:nowrap\">HP:0002108<a name=\"hpo-HP.580002108\"> </a></td><td>Spontaneous pneumothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0006562<a name=\"hpo-HP.580006562\"> </a></td><td>Viral hepatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012647<a name=\"hpo-HP.580012647\"> </a></td><td>Abnormal inflammatory response</td></tr><tr><td style=\"white-space:nowrap\">HP:0012088<a name=\"hpo-HP.580012088\"> </a></td><td>Abnormal urinary odor</td></tr><tr><td style=\"white-space:nowrap\">HP:0011458<a name=\"hpo-HP.580011458\"> </a></td><td>Abdominal symptom</td></tr><tr><td style=\"white-space:nowrap\">HP:0002829<a name=\"hpo-HP.580002829\"> </a></td><td>Arthralgia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010783<a name=\"hpo-HP.580010783\"> </a></td><td>Erythema</td></tr><tr><td style=\"white-space:nowrap\">HP:0010307<a name=\"hpo-HP.580010307\"> </a></td><td>Stridor</td></tr><tr><td style=\"white-space:nowrap\">HP:0001269<a name=\"hpo-HP.580001269\"> </a></td><td>Hemiparesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006532<a name=\"hpo-HP.580006532\"> </a></td><td>Recurrent pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002580<a name=\"hpo-HP.580002580\"> </a></td><td>Volvulus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012387<a name=\"hpo-HP.580012387\"> </a></td><td>Bronchitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001266<a name=\"hpo-HP.580001266\"> </a></td><td>Choreoathetosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001531<a name=\"hpo-HP.580001531\"> </a></td><td>Failure to thrive in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011470<a name=\"hpo-HP.580011470\"> </a></td><td>Nasogastric tube feeding in infancy</td></tr><tr><td style=\"white-space:nowrap\">HP:0001361<a name=\"hpo-HP.580001361\"> </a></td><td>Nystagmus-induced head nodding</td></tr><tr><td style=\"white-space:nowrap\">HP:0001997<a name=\"hpo-HP.580001997\"> </a></td><td>Gout</td></tr><tr><td style=\"white-space:nowrap\">HP:0000965<a name=\"hpo-HP.580000965\"> </a></td><td>Cutis marmorata</td></tr><tr><td style=\"white-space:nowrap\">HP:0010316<a name=\"hpo-HP.580010316\"> </a></td><td>Ebstein anomaly of the tricuspid valve</td></tr><tr><td style=\"white-space:nowrap\">HP:0010543<a name=\"hpo-HP.580010543\"> </a></td><td>Opsoclonus</td></tr><tr><td style=\"white-space:nowrap\">HP:0007704<a name=\"hpo-HP.580007704\"> </a></td><td>Paroxysmal involuntary eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0030364<a name=\"hpo-HP.580030364\"> </a></td><td>Secondary Caesarian section</td></tr><tr><td style=\"white-space:nowrap\">HP:0007738<a name=\"hpo-HP.580007738\"> </a></td><td>Uncontrolled eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0030366<a name=\"hpo-HP.580030366\"> </a></td><td>Delivery by Odon device</td></tr><tr><td style=\"white-space:nowrap\">HP:0011411<a name=\"hpo-HP.580011411\"> </a></td><td>Forceps delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0030369<a name=\"hpo-HP.580030369\"> </a></td><td>Induced vaginal delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0005268<a name=\"hpo-HP.580005268\"> </a></td><td>Spontaneous abortion</td></tr><tr><td style=\"white-space:nowrap\">HP:0030365<a name=\"hpo-HP.580030365\"> </a></td><td>Vaginal birth after Caesarian</td></tr><tr><td style=\"white-space:nowrap\">HP:0011412<a name=\"hpo-HP.580011412\"> </a></td><td>Ventouse delivery</td></tr><tr><td style=\"white-space:nowrap\">HP:0002572<a name=\"hpo-HP.580002572\"> </a></td><td>Episodic vomiting</td></tr><tr><td style=\"white-space:nowrap\">HP:0030350<a name=\"hpo-HP.580030350\"> </a></td><td>Erythematous papule</td></tr><tr><td style=\"white-space:nowrap\">HP:0001386<a name=\"hpo-HP.580001386\"> </a></td><td>Joint swelling</td></tr><tr><td style=\"white-space:nowrap\">HP:0000147<a name=\"hpo-HP.580000147\"> </a></td><td>Polycystic ovaries</td></tr><tr><td style=\"white-space:nowrap\">HP:0012412<a name=\"hpo-HP.580012412\"> </a></td><td>Premature adrenarche</td></tr><tr><td style=\"white-space:nowrap\">HP:0004411<a name=\"hpo-HP.580004411\"> </a></td><td>Deviated nasal septum</td></tr><tr><td style=\"white-space:nowrap\">HP:0040183<a name=\"hpo-HP.580040183\"> </a></td><td>Encopresis</td></tr><tr><td style=\"white-space:nowrap\">HP:0100507<a name=\"hpo-HP.580100507\"> </a></td><td>Reduced blood folate concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0007011<a name=\"hpo-HP.580007011\"> </a></td><td>Fourth cranial nerve palsy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000375<a name=\"hpo-HP.580000375\"> </a></td><td>Abnormal cochlea morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009911<a name=\"hpo-HP.580009911\"> </a></td><td>Abnormal temporal bone morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000081<a name=\"hpo-HP.580000081\"> </a></td><td>Duplicated collecting system</td></tr><tr><td style=\"white-space:nowrap\">HP:0006894<a name=\"hpo-HP.580006894\"> </a></td><td>Hypoplastic olfactory lobes</td></tr><tr><td style=\"white-space:nowrap\">HP:0011380<a name=\"hpo-HP.580011380\"> </a></td><td>Morphological abnormality of the semicircular canal</td></tr><tr><td style=\"white-space:nowrap\">HP:0000110<a name=\"hpo-HP.580000110\"> </a></td><td>Renal dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0030025<a name=\"hpo-HP.580030025\"> </a></td><td>Auricular pit</td></tr><tr><td style=\"white-space:nowrap\">HP:0010044<a name=\"hpo-HP.580010044\"> </a></td><td>Short 4th metacarpal</td></tr><tr><td style=\"white-space:nowrap\">HP:0010047<a name=\"hpo-HP.580010047\"> </a></td><td>Short 5th metacarpal</td></tr><tr><td style=\"white-space:nowrap\">HP:0000201<a name=\"hpo-HP.580000201\"> </a></td><td>Pierre-Robin sequence</td></tr><tr><td style=\"white-space:nowrap\">HP:0100837<a name=\"hpo-HP.580100837\"> </a></td><td>Atrophodermia vermiculata</td></tr><tr><td style=\"white-space:nowrap\">HP:0002673<a name=\"hpo-HP.580002673\"> </a></td><td>Coxa valga</td></tr><tr><td style=\"white-space:nowrap\">HP:0001476<a name=\"hpo-HP.580001476\"> </a></td><td>Delayed closure of the anterior fontanelle</td></tr><tr><td style=\"white-space:nowrap\">HP:0011069<a name=\"hpo-HP.580011069\"> </a></td><td>Increased number of teeth</td></tr><tr><td style=\"white-space:nowrap\">HP:0009879<a name=\"hpo-HP.580009879\"> </a></td><td>Simplified gyral pattern</td></tr><tr><td style=\"white-space:nowrap\">HP:0006315<a name=\"hpo-HP.580006315\"> </a></td><td>Single median maxillary incisor</td></tr><tr><td style=\"white-space:nowrap\">HP:0001194<a name=\"hpo-HP.580001194\"> </a></td><td>Abnormalities of placenta or umbilical cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0100767<a name=\"hpo-HP.580100767\"> </a></td><td>Abnormal placenta morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0006543<a name=\"hpo-HP.580006543\"> </a></td><td>Cardiorespiratory arrest</td></tr><tr><td style=\"white-space:nowrap\">HP:0003074<a name=\"hpo-HP.580003074\"> </a></td><td>Hyperglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000842<a name=\"hpo-HP.580000842\"> </a></td><td>Hyperinsulinemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011951<a name=\"hpo-HP.580011951\"> </a></td><td>Aspiration pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0006528<a name=\"hpo-HP.580006528\"> </a></td><td>Chronic lung disease</td></tr><tr><td style=\"white-space:nowrap\">HP:0002383<a name=\"hpo-HP.580002383\"> </a></td><td>Encephalitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0000388<a name=\"hpo-HP.580000388\"> </a></td><td>Otitis media</td></tr><tr><td style=\"white-space:nowrap\">HP:0002530<a name=\"hpo-HP.580002530\"> </a></td><td>Axial dystonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002780<a name=\"hpo-HP.580002780\"> </a></td><td>Bronchomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008755<a name=\"hpo-HP.580008755\"> </a></td><td>Laryngotracheomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000308<a name=\"hpo-HP.580000308\"> </a></td><td>Microretrognathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002786<a name=\"hpo-HP.580002786\"> </a></td><td>Tracheobronchomalacia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012389<a name=\"hpo-HP.580012389\"> </a></td><td>Appendicular hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011323<a name=\"hpo-HP.580011323\"> </a></td><td>Cleft of chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0000417<a name=\"hpo-HP.580000417\"> </a></td><td>Slender nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0001863<a name=\"hpo-HP.580001863\"> </a></td><td>Toe clinodactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0008386<a name=\"hpo-HP.580008386\"> </a></td><td>Aplasia/Hypoplasia of the nails</td></tr><tr><td style=\"white-space:nowrap\">HP:0006989<a name=\"hpo-HP.580006989\"> </a></td><td>Dysplastic corpus callosum</td></tr><tr><td style=\"white-space:nowrap\">HP:0100954<a name=\"hpo-HP.580100954\"> </a></td><td>Open operculum</td></tr><tr><td style=\"white-space:nowrap\">HP:0004482<a name=\"hpo-HP.580004482\"> </a></td><td>Relative macrocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:3000033<a name=\"hpo-HP.583000033\"> </a></td><td>Abnormal nasopharyngeal adenoid morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0009062<a name=\"hpo-HP.580009062\"> </a></td><td>Infantile axial hypotonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002189<a name=\"hpo-HP.580002189\"> </a></td><td>obsolete Excessive daytime sleepiness</td></tr><tr><td style=\"white-space:nowrap\">HP:0002141<a name=\"hpo-HP.580002141\"> </a></td><td>Gait imbalance</td></tr><tr><td style=\"white-space:nowrap\">HP:0012734<a name=\"hpo-HP.580012734\"> </a></td><td>Ketotic hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005968<a name=\"hpo-HP.580005968\"> </a></td><td>Temperature instability</td></tr><tr><td style=\"white-space:nowrap\">HP:0012538<a name=\"hpo-HP.580012538\"> </a></td><td>Gluten intolerance</td></tr><tr><td style=\"white-space:nowrap\">HP:0000979<a name=\"hpo-HP.580000979\"> </a></td><td>Purpura</td></tr><tr><td style=\"white-space:nowrap\">HP:0001988<a name=\"hpo-HP.580001988\"> </a></td><td>Recurrent hypoglycemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001488<a name=\"hpo-HP.580001488\"> </a></td><td>Bilateral ptosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011229<a name=\"hpo-HP.580011229\"> </a></td><td>Broad eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0004440<a name=\"hpo-HP.580004440\"> </a></td><td>Coronal craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0004453<a name=\"hpo-HP.580004453\"> </a></td><td>Overfolding of the superior helices</td></tr><tr><td style=\"white-space:nowrap\">HP:0012547<a name=\"hpo-HP.580012547\"> </a></td><td>Abnormal involuntary eye movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0100814<a name=\"hpo-HP.580100814\"> </a></td><td>Blue nevus</td></tr><tr><td style=\"white-space:nowrap\">HP:0010751<a name=\"hpo-HP.580010751\"> </a></td><td>Dimple chin</td></tr><tr><td style=\"white-space:nowrap\">HP:0007087<a name=\"hpo-HP.580007087\"> </a></td><td>obsolete Involuntary jerking movements</td></tr><tr><td style=\"white-space:nowrap\">HP:0012498<a name=\"hpo-HP.580012498\"> </a></td><td>Nuchal cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0002472<a name=\"hpo-HP.580002472\"> </a></td><td>Small cerebral cortex</td></tr><tr><td style=\"white-space:nowrap\">HP:0100307<a name=\"hpo-HP.580100307\"> </a></td><td>Cerebellar hemisphere hypoplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002151<a name=\"hpo-HP.580002151\"> </a></td><td>Increased serum lactate</td></tr><tr><td style=\"white-space:nowrap\">HP:0001698<a name=\"hpo-HP.580001698\"> </a></td><td>Pericardial effusion</td></tr><tr><td style=\"white-space:nowrap\">HP:0006903<a name=\"hpo-HP.580006903\"> </a></td><td>Congenital peripheral neuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0006895<a name=\"hpo-HP.580006895\"> </a></td><td>Lower limb hypertonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002744<a name=\"hpo-HP.580002744\"> </a></td><td>Bilateral cleft lip and palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0010664<a name=\"hpo-HP.580010664\"> </a></td><td>Fusion of the left and right thalami</td></tr><tr><td style=\"white-space:nowrap\">HP:0000327<a name=\"hpo-HP.580000327\"> </a></td><td>Hypoplasia of the maxilla</td></tr><tr><td style=\"white-space:nowrap\">HP:0000474<a name=\"hpo-HP.580000474\"> </a></td><td>Thickened nuchal skin fold</td></tr><tr><td style=\"white-space:nowrap\">HP:0000105<a name=\"hpo-HP.580000105\"> </a></td><td>Enlarged kidney</td></tr><tr><td style=\"white-space:nowrap\">HP:0000113<a name=\"hpo-HP.580000113\"> </a></td><td>Polycystic kidney dysplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000104<a name=\"hpo-HP.580000104\"> </a></td><td>Renal agenesis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001362<a name=\"hpo-HP.580001362\"> </a></td><td>Calvarial skull defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0008245<a name=\"hpo-HP.580008245\"> </a></td><td>Pituitary hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0001552<a name=\"hpo-HP.580001552\"> </a></td><td>Barrel-shaped chest</td></tr><tr><td style=\"white-space:nowrap\">HP:0006297<a name=\"hpo-HP.580006297\"> </a></td><td>Hypoplasia of dental enamel</td></tr><tr><td style=\"white-space:nowrap\">HP:0100023<a name=\"hpo-HP.580100023\"> </a></td><td>Recurrent hand flapping</td></tr><tr><td style=\"white-space:nowrap\">HP:0005518<a name=\"hpo-HP.580005518\"> </a></td><td>Increased mean corpuscular volume</td></tr><tr><td style=\"white-space:nowrap\">HP:0012418<a name=\"hpo-HP.580012418\"> </a></td><td>Hypoxemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100259<a name=\"hpo-HP.580100259\"> </a></td><td>Postaxial polydactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0010814<a name=\"hpo-HP.580010814\"> </a></td><td>Abnormal position of hair whorl</td></tr><tr><td style=\"white-space:nowrap\">HP:0003764<a name=\"hpo-HP.580003764\"> </a></td><td>Nevus</td></tr><tr><td style=\"white-space:nowrap\">HP:0000445<a name=\"hpo-HP.580000445\"> </a></td><td>Wide nose</td></tr><tr><td style=\"white-space:nowrap\">HP:0010677<a name=\"hpo-HP.580010677\"> </a></td><td>Enuresis nocturna</td></tr><tr><td style=\"white-space:nowrap\">HP:0001510<a name=\"hpo-HP.580001510\"> </a></td><td>Growth delay</td></tr><tr><td style=\"white-space:nowrap\">HP:0012428<a name=\"hpo-HP.580012428\"> </a></td><td>Prominent calcaneus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012471<a name=\"hpo-HP.580012471\"> </a></td><td>Thick vermilion border</td></tr><tr><td style=\"white-space:nowrap\">HP:0007110<a name=\"hpo-HP.580007110\"> </a></td><td>Central hypoventilation</td></tr><tr><td style=\"white-space:nowrap\">HP:0010614<a name=\"hpo-HP.580010614\"> </a></td><td>Fibroma</td></tr><tr><td style=\"white-space:nowrap\">HP:0001034<a name=\"hpo-HP.580001034\"> </a></td><td>Hypermelanotic macule</td></tr><tr><td style=\"white-space:nowrap\">HP:0011365<a name=\"hpo-HP.580011365\"> </a></td><td>Patchy hypopigmentation of hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0001920<a name=\"hpo-HP.580001920\"> </a></td><td>Renal artery stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002828<a name=\"hpo-HP.580002828\"> </a></td><td>Multiple joint contractures</td></tr><tr><td style=\"white-space:nowrap\">HP:0002144<a name=\"hpo-HP.580002144\"> </a></td><td>Tethered cord</td></tr><tr><td style=\"white-space:nowrap\">HP:0010964<a name=\"hpo-HP.580010964\"> </a></td><td>Abnormal circulating long-chain fatty-acid concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0010536<a name=\"hpo-HP.580010536\"> </a></td><td>Central sleep apnea</td></tr><tr><td style=\"white-space:nowrap\">HP:0011262<a name=\"hpo-HP.580011262\"> </a></td><td>Crimped helix</td></tr><tr><td style=\"white-space:nowrap\">HP:0040079<a name=\"hpo-HP.580040079\"> </a></td><td>Irregular dentition</td></tr><tr><td style=\"white-space:nowrap\">HP:0011481<a name=\"hpo-HP.580011481\"> </a></td><td>Abnormal lacrimal duct morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0000220<a name=\"hpo-HP.580000220\"> </a></td><td>Velopharyngeal insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0002153<a name=\"hpo-HP.580002153\"> </a></td><td>Hyperkalemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002148<a name=\"hpo-HP.580002148\"> </a></td><td>Hypophosphatemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012621<a name=\"hpo-HP.580012621\"> </a></td><td>Persistent cloaca</td></tr><tr><td style=\"white-space:nowrap\">HP:0000867<a name=\"hpo-HP.580000867\"> </a></td><td>Secondary hyperparathyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0003762<a name=\"hpo-HP.580003762\"> </a></td><td>Uterus didelphys</td></tr><tr><td style=\"white-space:nowrap\">HP:0100512<a name=\"hpo-HP.580100512\"> </a></td><td>Low levels of vitamin D</td></tr><tr><td style=\"white-space:nowrap\">HP:0012156<a name=\"hpo-HP.580012156\"> </a></td><td>Hemophagocytosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008209<a name=\"hpo-HP.580008209\"> </a></td><td>Premature ovarian insufficiency</td></tr><tr><td style=\"white-space:nowrap\">HP:0004349<a name=\"hpo-HP.580004349\"> </a></td><td>Reduced bone mineral density</td></tr><tr><td style=\"white-space:nowrap\">HP:0001924<a name=\"hpo-HP.580001924\"> </a></td><td>Sideroblastic anemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011703<a name=\"hpo-HP.580011703\"> </a></td><td>Sinus tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010609<a name=\"hpo-HP.580010609\"> </a></td><td>Skin tags</td></tr><tr><td style=\"white-space:nowrap\">HP:0002725<a name=\"hpo-HP.580002725\"> </a></td><td>Systemic lupus erythematosus</td></tr><tr><td style=\"white-space:nowrap\">HP:0003193<a name=\"hpo-HP.580003193\"> </a></td><td>Allergic rhinitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006896<a name=\"hpo-HP.580006896\"> </a></td><td>Hypnopompic hallucinations</td></tr><tr><td style=\"white-space:nowrap\">HP:0002524<a name=\"hpo-HP.580002524\"> </a></td><td>Cataplexy</td></tr><tr><td style=\"white-space:nowrap\">HP:0005227<a name=\"hpo-HP.580005227\"> </a></td><td>Adenomatous colonic polyposis</td></tr><tr><td style=\"white-space:nowrap\">HP:0012173<a name=\"hpo-HP.580012173\"> </a></td><td>Orthostatic tachycardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0001271<a name=\"hpo-HP.580001271\"> </a></td><td>Polyneuropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0009120<a name=\"hpo-HP.580009120\"> </a></td><td>Aplasia/Hypoplasia involving the sinuses</td></tr><tr><td style=\"white-space:nowrap\">HP:0000625<a name=\"hpo-HP.580000625\"> </a></td><td>Eyelid coloboma</td></tr><tr><td style=\"white-space:nowrap\">HP:0009754<a name=\"hpo-HP.580009754\"> </a></td><td>Fibrous syngnathia</td></tr><tr><td style=\"white-space:nowrap\">HP:0012478<a name=\"hpo-HP.580012478\"> </a></td><td>Temporomandibular joint ankylosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001233<a name=\"hpo-HP.580001233\"> </a></td><td>2-3 finger syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0000811<a name=\"hpo-HP.580000811\"> </a></td><td>Abnormal external genitalia</td></tr><tr><td style=\"white-space:nowrap\">HP:0005120<a name=\"hpo-HP.580005120\"> </a></td><td>Abnormal cardiac atrium morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0008388<a name=\"hpo-HP.580008388\"> </a></td><td>Abnormal toenail morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0011467<a name=\"hpo-HP.580011467\"> </a></td><td>Absent gallbladder</td></tr><tr><td style=\"white-space:nowrap\">HP:0010760<a name=\"hpo-HP.580010760\"> </a></td><td>Absent toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0001545<a name=\"hpo-HP.580001545\"> </a></td><td>Anteriorly placed anus</td></tr><tr><td style=\"white-space:nowrap\">HP:0001640<a name=\"hpo-HP.580001640\"> </a></td><td>Cardiomegaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0002990<a name=\"hpo-HP.580002990\"> </a></td><td>Fibular aplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0004443<a name=\"hpo-HP.580004443\"> </a></td><td>Lambdoidal craniosynostosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0008569<a name=\"hpo-HP.580008569\"> </a></td><td>Microtia, second degree</td></tr><tr><td style=\"white-space:nowrap\">HP:0006277<a name=\"hpo-HP.580006277\"> </a></td><td>Pancreatic hyperplasia</td></tr><tr><td style=\"white-space:nowrap\">HP:0010445<a name=\"hpo-HP.580010445\"> </a></td><td>Primum atrial septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0011640<a name=\"hpo-HP.580011640\"> </a></td><td>Single coronary artery origin</td></tr><tr><td style=\"white-space:nowrap\">HP:0011608<a name=\"hpo-HP.580011608\"> </a></td><td>Type II truncus arteriosus</td></tr><tr><td style=\"white-space:nowrap\">HP:0011327<a name=\"hpo-HP.580011327\"> </a></td><td>Posterior plagiocephaly</td></tr><tr><td style=\"white-space:nowrap\">HP:0007655<a name=\"hpo-HP.580007655\"> </a></td><td>Eversion of lateral third of lower eyelids</td></tr><tr><td style=\"white-space:nowrap\">HP:0010747<a name=\"hpo-HP.580010747\"> </a></td><td>Medial flaring of the eyebrow</td></tr><tr><td style=\"white-space:nowrap\">HP:0005957<a name=\"hpo-HP.580005957\"> </a></td><td>Breathing dysregulation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000992<a name=\"hpo-HP.580000992\"> </a></td><td>Cutaneous photosensitivity</td></tr><tr><td style=\"white-space:nowrap\">HP:0011995<a name=\"hpo-HP.580011995\"> </a></td><td>Atrial septal dilatation</td></tr><tr><td style=\"white-space:nowrap\">HP:0000377<a name=\"hpo-HP.580000377\"> </a></td><td>Abnormality of the pinna</td></tr><tr><td style=\"white-space:nowrap\">HP:0011266<a name=\"hpo-HP.580011266\"> </a></td><td>Microtia, first degree</td></tr><tr><td style=\"white-space:nowrap\">HP:0012650<a name=\"hpo-HP.580012650\"> </a></td><td>Perisylvian polymicrogyria</td></tr><tr><td style=\"white-space:nowrap\">HP:0004970<a name=\"hpo-HP.580004970\"> </a></td><td>Ascending tubular aorta aneurysm</td></tr><tr><td style=\"white-space:nowrap\">HP:0008348<a name=\"hpo-HP.580008348\"> </a></td><td>Decreased circulating IgG2 level</td></tr><tr><td style=\"white-space:nowrap\">HP:0012115<a name=\"hpo-HP.580012115\"> </a></td><td>Hepatitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006979<a name=\"hpo-HP.580006979\"> </a></td><td>Sleep-wake cycle disturbance</td></tr><tr><td style=\"white-space:nowrap\">HP:0008587<a name=\"hpo-HP.580008587\"> </a></td><td>Mild neurosensory hearing impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0006097<a name=\"hpo-HP.580006097\"> </a></td><td>3-4 finger syndactyly</td></tr><tr><td style=\"white-space:nowrap\">HP:0005263<a name=\"hpo-HP.580005263\"> </a></td><td>Gastritis</td></tr><tr><td style=\"white-space:nowrap\">HP:0200043<a name=\"hpo-HP.580200043\"> </a></td><td>Verrucae</td></tr><tr><td style=\"white-space:nowrap\">HP:0009600<a name=\"hpo-HP.580009600\"> </a></td><td>Flexion contracture of thumb</td></tr><tr><td style=\"white-space:nowrap\">HP:0010818<a name=\"hpo-HP.580010818\"> </a></td><td>Generalized tonic seizure</td></tr><tr><td style=\"white-space:nowrap\">HP:0002599<a name=\"hpo-HP.580002599\"> </a></td><td>Head titubation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002090<a name=\"hpo-HP.580002090\"> </a></td><td>Pneumonia</td></tr><tr><td style=\"white-space:nowrap\">HP:0030423<a name=\"hpo-HP.580030423\"> </a></td><td>Splenic cyst</td></tr><tr><td style=\"white-space:nowrap\">HP:0030187<a name=\"hpo-HP.580030187\"> </a></td><td>Titubation</td></tr><tr><td style=\"white-space:nowrap\">HP:0002375<a name=\"hpo-HP.580002375\"> </a></td><td>Hypokinesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0007166<a name=\"hpo-HP.580007166\"> </a></td><td>Paroxysmal dyskinesia</td></tr><tr><td style=\"white-space:nowrap\">HP:0003077<a name=\"hpo-HP.580003077\"> </a></td><td>Hyperlipidemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0000017<a name=\"hpo-HP.580000017\"> </a></td><td>Nocturia</td></tr><tr><td style=\"white-space:nowrap\">HP:0100555<a name=\"hpo-HP.580100555\"> </a></td><td>Asymmetric growth</td></tr><tr><td style=\"white-space:nowrap\">HP:0011847<a name=\"hpo-HP.580011847\"> </a></td><td>Giant cell tumor of bone</td></tr><tr><td style=\"white-space:nowrap\">HP:0000112<a name=\"hpo-HP.580000112\"> </a></td><td>Nephropathy</td></tr><tr><td style=\"white-space:nowrap\">HP:0000246<a name=\"hpo-HP.580000246\"> </a></td><td>Sinusitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001012<a name=\"hpo-HP.580001012\"> </a></td><td>Multiple lipomas</td></tr><tr><td style=\"white-space:nowrap\">HP:0000851<a name=\"hpo-HP.580000851\"> </a></td><td>Congenital hypothyroidism</td></tr><tr><td style=\"white-space:nowrap\">HP:0002345<a name=\"hpo-HP.580002345\"> </a></td><td>Action tremor</td></tr><tr><td style=\"white-space:nowrap\">HP:0002677<a name=\"hpo-HP.580002677\"> </a></td><td>Small foramen magnum</td></tr><tr><td style=\"white-space:nowrap\">HP:0011947<a name=\"hpo-HP.580011947\"> </a></td><td>Respiratory tract infection</td></tr><tr><td style=\"white-space:nowrap\">HP:0012151<a name=\"hpo-HP.580012151\"> </a></td><td>Hemothorax</td></tr><tr><td style=\"white-space:nowrap\">HP:0005988<a name=\"hpo-HP.580005988\"> </a></td><td>Congenital muscular torticollis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002329<a name=\"hpo-HP.580002329\"> </a></td><td>Drowsiness</td></tr><tr><td style=\"white-space:nowrap\">HP:0012395<a name=\"hpo-HP.580012395\"> </a></td><td>Seasonal allergy</td></tr><tr><td style=\"white-space:nowrap\">HP:0011679<a name=\"hpo-HP.580011679\"> </a></td><td>Tetralogy of Fallot with pulmonary stenosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0001864<a name=\"hpo-HP.580001864\"> </a></td><td>Clinodactyly of the 5th toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0006934<a name=\"hpo-HP.580006934\"> </a></td><td>Congenital nystagmus</td></tr><tr><td style=\"white-space:nowrap\">HP:0100355<a name=\"hpo-HP.580100355\"> </a></td><td>Contractures of the distal interphalangeal joint of the 5th toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0007894<a name=\"hpo-HP.580007894\"> </a></td><td>Hypopigmentation of the fundus</td></tr><tr><td style=\"white-space:nowrap\">HP:0012377<a name=\"hpo-HP.580012377\"> </a></td><td>Hemianopia</td></tr><tr><td style=\"white-space:nowrap\">HP:0002354<a name=\"hpo-HP.580002354\"> </a></td><td>Memory impairment</td></tr><tr><td style=\"white-space:nowrap\">HP:0000872<a name=\"hpo-HP.580000872\"> </a></td><td>Hashimoto thyroiditis</td></tr><tr><td style=\"white-space:nowrap\">HP:0002519<a name=\"hpo-HP.580002519\"> </a></td><td>Hypnagogic hallucinations</td></tr><tr><td style=\"white-space:nowrap\">HP:0010647<a name=\"hpo-HP.580010647\"> </a></td><td>Abnormal elasticity of skin</td></tr><tr><td style=\"white-space:nowrap\">HP:0002592<a name=\"hpo-HP.580002592\"> </a></td><td>Gastric ulcer</td></tr><tr><td style=\"white-space:nowrap\">HP:0004938<a name=\"hpo-HP.580004938\"> </a></td><td>Tortuous cerebral arteries</td></tr><tr><td style=\"white-space:nowrap\">HP:0004948<a name=\"hpo-HP.580004948\"> </a></td><td>Vascular tortuosity</td></tr><tr><td style=\"white-space:nowrap\">HP:0002516<a name=\"hpo-HP.580002516\"> </a></td><td>Increased intracranial pressure</td></tr><tr><td style=\"white-space:nowrap\">HP:0006460<a name=\"hpo-HP.580006460\"> </a></td><td>Increased laxity of ankles</td></tr><tr><td style=\"white-space:nowrap\">HP:0002317<a name=\"hpo-HP.580002317\"> </a></td><td>Unsteady gait</td></tr><tr><td style=\"white-space:nowrap\">HP:0000182<a name=\"hpo-HP.580000182\"> </a></td><td>Movement abnormality of the tongue</td></tr><tr><td style=\"white-space:nowrap\">HP:0009887<a name=\"hpo-HP.580009887\"> </a></td><td>Abnormality of hair pigmentation</td></tr><tr><td style=\"white-space:nowrap\">HP:0005824<a name=\"hpo-HP.580005824\"> </a></td><td>Clinodactyly of the 2nd toe</td></tr><tr><td style=\"white-space:nowrap\">HP:0002212<a name=\"hpo-HP.580002212\"> </a></td><td>Curly hair</td></tr><tr><td style=\"white-space:nowrap\">HP:0009803<a name=\"hpo-HP.580009803\"> </a></td><td>Short phalanx of finger</td></tr><tr><td style=\"white-space:nowrap\">HP:0000572<a name=\"hpo-HP.580000572\"> </a></td><td>Visual loss</td></tr><tr><td style=\"white-space:nowrap\">HP:0005216<a name=\"hpo-HP.580005216\"> </a></td><td>Impaired mastication</td></tr><tr><td style=\"white-space:nowrap\">HP:0000619<a name=\"hpo-HP.580000619\"> </a></td><td>Impaired convergence</td></tr><tr><td style=\"white-space:nowrap\">HP:0002403<a name=\"hpo-HP.580002403\"> </a></td><td>Positive Romberg sign</td></tr><tr><td style=\"white-space:nowrap\">HP:0008744<a name=\"hpo-HP.580008744\"> </a></td><td>Abnormal aryepiglottic fold morphology</td></tr><tr><td style=\"white-space:nowrap\">HP:0002374<a name=\"hpo-HP.580002374\"> </a></td><td>Diminished movement</td></tr><tr><td style=\"white-space:nowrap\">HP:0008277<a name=\"hpo-HP.580008277\"> </a></td><td>Abnormal blood zinc concentration</td></tr><tr><td style=\"white-space:nowrap\">HP:0012781<a name=\"hpo-HP.580012781\"> </a></td><td>Mid-frequency hearing loss</td></tr><tr><td style=\"white-space:nowrap\">HP:0100758<a name=\"hpo-HP.580100758\"> </a></td><td>Gangrene</td></tr><tr><td style=\"white-space:nowrap\">HP:0003256<a name=\"hpo-HP.580003256\"> </a></td><td>Abnormality of the coagulation cascade</td></tr><tr><td style=\"white-space:nowrap\">HP:0004387<a name=\"hpo-HP.580004387\"> </a></td><td>Enterocolitis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011029<a name=\"hpo-HP.580011029\"> </a></td><td>Internal hemorrhage</td></tr><tr><td style=\"white-space:nowrap\">HP:0011649<a name=\"hpo-HP.580011649\"> </a></td><td>Patent ductus arteriosus after premature birth</td></tr><tr><td style=\"white-space:nowrap\">HP:0012050<a name=\"hpo-HP.580012050\"> </a></td><td>Anasarca</td></tr><tr><td style=\"white-space:nowrap\">HP:0001683<a name=\"hpo-HP.580001683\"> </a></td><td>Ectopia cordis</td></tr><tr><td style=\"white-space:nowrap\">HP:0011682<a name=\"hpo-HP.580011682\"> </a></td><td>Perimembranous ventricular septal defect</td></tr><tr><td style=\"white-space:nowrap\">HP:0010624<a name=\"hpo-HP.580010624\"> </a></td><td>Aplastic/hypoplastic toenail</td></tr><tr><td style=\"white-space:nowrap\">HP:0002705<a name=\"hpo-HP.580002705\"> </a></td><td>High, narrow palate</td></tr><tr><td style=\"white-space:nowrap\">HP:0011340<a name=\"hpo-HP.580011340\"> </a></td><td>Incomplete cleft of the upper lip</td></tr><tr><td style=\"white-space:nowrap\">HP:0011613<a name=\"hpo-HP.580011613\"> </a></td><td>Interrupted aortic arch type B</td></tr><tr><td style=\"white-space:nowrap\">HP:0006167<a name=\"hpo-HP.580006167\"> </a></td><td>Prominent proximal interphalangeal joints</td></tr><tr><td style=\"white-space:nowrap\">HP:0002918<a name=\"hpo-HP.580002918\"> </a></td><td>Hypermagnesemia</td></tr><tr><td style=\"white-space:nowrap\">HP:0011937<a name=\"hpo-HP.580011937\"> </a></td><td>Hypoplastic fifth toenail</td></tr><tr><td style=\"white-space:nowrap\">HP:0001067<a name=\"hpo-HP.580001067\"> </a></td><td>Neurofibromas</td></tr><tr><td style=\"white-space:nowrap\">HP:0011403<a name=\"hpo-HP.580011403\"> </a></td><td>Abnormal umbilical cord blood vessels</td></tr><tr><td style=\"white-space:nowrap\">HP:0003316<a name=\"hpo-HP.580003316\"> </a></td><td>Butterfly vertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0002247<a name=\"hpo-HP.580002247\"> </a></td><td>Duodenal atresia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008439<a name=\"hpo-HP.580008439\"> </a></td><td>Lumbar hemivertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0011599<a name=\"hpo-HP.580011599\"> </a></td><td>Mesocardia</td></tr><tr><td style=\"white-space:nowrap\">HP:0008467<a name=\"hpo-HP.580008467\"> </a></td><td>Thoracic hemivertebrae</td></tr><tr><td style=\"white-space:nowrap\">HP:0004626<a name=\"hpo-HP.580004626\"> </a></td><td>Lumbar scoliosis</td></tr><tr><td style=\"white-space:nowrap\">HP:0006808<a name=\"hpo-HP.580006808\"> </a></td><td>Cerebral hypomyelination</td></tr><tr><td style=\"white-space:nowrap\">HP:0002926<a name=\"hpo-HP.580002926\"> </a></td><td>Abnormality of thyroid physiology</td></tr><tr><td style=\"white-space:nowrap\">HP:0007970<a name=\"hpo-HP.580007970\"> </a></td><td>Congenital ptosis</td></tr></table></div>"},"url":"http://purl.obolibrary.org/obo/hp.owl","version":"0.2.0","name":"HPO","title":"Human Phenotype Ontology","status":"draft","experimental":false,"date":"2022-10-31T21:26:01+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org","valueSet":"http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes","hierarchyMeaning":"is-a","compositional":false,"versionNeeded":false,"content":"fragment","count":1880,"filter":[{"code":"root","operator":["="],"value":"True or false."},{"code":"deprecated","operator":["="],"value":"True or false."},{"code":"imported","operator":["="],"value":"True or false"}],"property":[{"code":"parent","description":"Parent codes.","type":"code"},{"code":"imported","description":"Indicates if the concept is imported from another code system.","type":"boolean"},{"code":"root","description":"Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)","type":"boolean"},{"code":"deprecated","description":"Indicates if this concept is deprecated.","type":"boolean"}],"concept":[{"code":"HP:0000365","display":"Hearing impairment"},{"code":"HP:0002564","display":"obsolete Malformation of the heart and great vessels"},{"code":"HP:0001028","display":"Hemangioma"},{"code":"HP:0000476","display":"Cystic hygroma"},{"code":"HP:0000568","display":"Microphthalmia"},{"code":"HP:0000518","display":"Cataract"},{"code":"HP:0000612","display":"Iris coloboma"},{"code":"HP:0000567","display":"Chorioretinal coloboma"},{"code":"HP:0000316","display":"Hypertelorism"},{"code":"HP:0000482","display":"Microcornea"},{"code":"HP:0000588","display":"Optic nerve coloboma"},{"code":"HP:0004426","display":"Abnormality of the cheek"},{"code":"HP:0009125","display":"Lipodystrophy"},{"code":"HP:0002023","display":"Anal atresia"},{"code":"HP:0003468","display":"Abnormal vertebral morphology"},{"code":"HP:0000545","display":"Myopia"},{"code":"HP:0000122","display":"Unilateral renal agenesis"},{"code":"HP:0002143","display":"Abnormality of the spinal cord"},{"code":"HP:0003508","display":"Proportionate short stature"},{"code":"HP:0000271","display":"Abnormality of the face"},{"code":"HP:0000637","display":"Long palpebral fissure"},{"code":"HP:0000492","display":"Abnormal eyelid morphology"},{"code":"HP:0000389","display":"Chronic otitis media"},{"code":"HP:0000400","display":"Macrotia"},{"code":"HP:0000405","display":"Conductive hearing impairment"},{"code":"HP:0012712","display":"Mild hearing impairment"},{"code":"HP:0005280","display":"Depressed nasal bridge"},{"code":"HP:0000431","display":"Wide nasal bridge"},{"code":"HP:0000319","display":"Smooth philtrum"},{"code":"HP:0000175","display":"Cleft palate"},{"code":"HP:0001611","display":"Nasal speech"},{"code":"HP:0002099","display":"Asthma"},{"code":"HP:0001397","display":"Hepatic steatosis"},{"code":"HP:0001081","display":"Cholelithiasis"},{"code":"HP:0002650","display":"Scoliosis"},{"code":"HP:0001212","display":"Prominent fingertip pads"},{"code":"HP:0001328","display":"Specific learning disability"},{"code":"HP:0000824","display":"Growth hormone deficiency"},{"code":"HP:0002607","display":"Bowel incontinence"},{"code":"HP:0100731","display":"Transverse facial cleft"},{"code":"HP:0000528","display":"Anophthalmia"},{"code":"HP:0000601","display":"Hypotelorism"},{"code":"HP:0000369","display":"Low-set ears"},{"code":"HP:0001274","display":"Agenesis of corpus callosum"},{"code":"HP:0002084","display":"Encephalocele"},{"code":"HP:0007033","display":"Cerebellar dysplasia"},{"code":"HP:0100336","display":"Bilateral cleft lip"},{"code":"HP:0100337","display":"Bilateral cleft palate"},{"code":"HP:0001511","display":"Intrauterine growth retardation"},{"code":"HP:0011451","display":"Congenital microcephaly"},{"code":"HP:0000324","display":"Facial asymmetry"},{"code":"HP:0000581","display":"Blepharophimosis"},{"code":"HP:0000508","display":"Ptosis"},{"code":"HP:0008551","display":"Microtia"},{"code":"HP:0001631","display":"Atrial septal defect"},{"code":"HP:0000085","display":"Horseshoe kidney"},{"code":"HP:0011927","display":"Short digit"},{"code":"HP:0001156","display":"Brachydactyly"},{"code":"HP:0002066","display":"Gait ataxia"},{"code":"HP:0001250","display":"Seizure"},{"code":"HP:0001263","display":"Global developmental delay"},{"code":"HP:0001562","display":"Oligohydramnios"},{"code":"HP:0001195","display":"Single umbilical artery"},{"code":"HP:0006349","display":"Agenesis of permanent teeth"},{"code":"HP:0000668","display":"Hypodontia"},{"code":"HP:0000677","display":"Oligodontia"},{"code":"HP:0001252","display":"Muscular hypotonia"},{"code":"HP:0003429","display":"CNS hypomyelination"},{"code":"HP:0010864","display":"Intellectual disability, severe"},{"code":"HP:0004325","display":"Decreased body weight"},{"code":"HP:0000666","display":"Horizontal nystagmus"},{"code":"HP:0000218","display":"High palate"},{"code":"HP:0010809","display":"Broad uvula"},{"code":"HP:0000767","display":"Pectus excavatum"},{"code":"HP:0003691","display":"Scapular winging"},{"code":"HP:0002616","display":"Aortic root aneurysm"},{"code":"HP:0001601","display":"Laryngomalacia"},{"code":"HP:0002021","display":"Pyloric stenosis"},{"code":"HP:0001388","display":"Joint laxity"},{"code":"HP:0001187","display":"Hyperextensibility of the finger joints"},{"code":"HP:0000741","display":"Apathy"},{"code":"HP:0000817","display":"Poor eye contact"},{"code":"HP:0000821","display":"Hypothyroidism"},{"code":"HP:0000002","display":"Abnormality of body height"},{"code":"HP:0000079","display":"Abnormality of the urinary system"},{"code":"HP:0000164","display":"Abnormality of the dentition"},{"code":"HP:0000364","display":"Hearing abnormality"},{"code":"HP:0000366","display":"Abnormality of the nose"},{"code":"HP:0000464","display":"Abnormality of the neck"},{"code":"HP:0000707","display":"Abnormality of the nervous system"},{"code":"HP:0000708","display":"Behavioral abnormality"},{"code":"HP:0000769","display":"Abnormality of the breast"},{"code":"HP:0000772","display":"Abnormality of the ribs"},{"code":"HP:0000775","display":"Abnormality of the diaphragm"},{"code":"HP:0000889","display":"Abnormality of the clavicle"},{"code":"HP:0000925","display":"Abnormality of the vertebral column"},{"code":"HP:0001080","display":"Biliary tract abnormality"},{"code":"HP:0001392","display":"Abnormality of the liver"},{"code":"HP:0001438","display":"Abnormal abdomen morphology"},{"code":"HP:0001608","display":"Abnormality of the voice"},{"code":"HP:0001627","display":"Abnormal heart morphology"},{"code":"HP:0001732","display":"Abnormality of the pancreas"},{"code":"HP:0001739","display":"Abnormality of the nasopharynx"},{"code":"HP:0001743","display":"Abnormality of the spleen"},{"code":"HP:0001760","display":"Abnormal foot morphology"},{"code":"HP:0001871","display":"Abnormality of blood and blood-forming tissues"},{"code":"HP:0002031","display":"Abnormal esophagus morphology"},{"code":"HP:0002244","display":"Abnormality of the small intestine"},{"code":"HP:0002246","display":"Abnormality of the duodenum"},{"code":"HP:0002250","display":"Abnormal large intestine morphology"},{"code":"HP:0002644","display":"Abnormality of pelvic girdle bone morphology"},{"code":"HP:0002664","display":"Neoplasm"},{"code":"HP:0002715","display":"Abnormality of the immune system"},{"code":"HP:0002814","display":"Abnormality of the lower limb"},{"code":"HP:0002817","display":"Abnormality of the upper limb"},{"code":"HP:0005483","display":"Abnormal epiglottis morphology"},{"code":"HP:0008777","display":"Abnormal vocal cord morphology"},{"code":"HP:0011844","display":"Abnormal appendicular skeleton morphology"},{"code":"HP:0012732","display":"Anorectal anomaly"},{"code":"HP:0001508","display":"Failure to thrive"},{"code":"HP:0002902","display":"Hyponatremia"},{"code":"HP:0012236","display":"Elevated sweat chloride"},{"code":"HP:0000347","display":"Micrognathia"},{"code":"HP:0000926","display":"Platyspondyly"},{"code":"HP:0001371","display":"Flexion contracture"},{"code":"HP:0001875","display":"Neutropenia"},{"code":"HP:0001888","display":"Lymphopenia"},{"code":"HP:0002857","display":"Genu valgum"},{"code":"HP:0002986","display":"Radial bowing"},{"code":"HP:0003015","display":"Flared metaphysis"},{"code":"HP:0003025","display":"Metaphyseal irregularity"},{"code":"HP:0003097","display":"Short femur"},{"code":"HP:0003300","display":"Ovoid vertebral bodies"},{"code":"HP:0003307","display":"Hyperlordosis"},{"code":"HP:0004209","display":"Clinodactyly of the 5th finger"},{"code":"HP:0004322","display":"Short stature"},{"code":"HP:0005792","display":"Short humerus"},{"code":"HP:0006248","display":"Limited wrist movement"},{"code":"HP:0000944","display":"Abnormality of the metaphysis"},{"code":"HP:0011921","display":"Exudative pleural effusion"},{"code":"HP:0003043","display":"Abnormality of the shoulder"},{"code":"HP:0000290","display":"Abnormality of the forehead"},{"code":"HP:0005288","display":"Abnormality of the nares"},{"code":"HP:0000234","display":"Abnormality of the head"},{"code":"HP:0004323","display":"Abnormality of body weight"},{"code":"HP:0000483","display":"Astigmatism"},{"code":"HP:0011003","display":"High myopia"},{"code":"HP:0000470","display":"Short neck"},{"code":"HP:0030044","display":"Flexion contracture of digit"},{"code":"HP:0100871","display":"Abnormality of the palm"},{"code":"HP:0004334","display":"Dermal atrophy"},{"code":"HP:0001845","display":"Overlapping toe"},{"code":"HP:0000496","display":"Abnormality of eye movement"},{"code":"HP:0001780","display":"Abnormality of toe"},{"code":"HP:0001626","display":"Abnormality of the cardiovascular system"},{"code":"HP:0002086","display":"Abnormality of the respiratory system"},{"code":"HP:0000818","display":"Abnormality of the endocrine system"},{"code":"HP:0012372","display":"Abnormal eye morphology"},{"code":"HP:0009473","display":"Joint contracture of the hand"},{"code":"HP:0003199","display":"Decreased muscle mass"},{"code":"HP:0003202","display":"Skeletal muscle atrophy"},{"code":"HP:0003551","display":"Difficulty climbing stairs"},{"code":"HP:0002355","display":"Difficulty walking"},{"code":"HP:0003546","display":"Exercise intolerance"},{"code":"HP:0003325","display":"Limb-girdle muscle weakness"},{"code":"HP:0003701","display":"Proximal muscle weakness"},{"code":"HP:0003547","display":"Shoulder girdle muscle weakness"},{"code":"HP:0007340","display":"Lower limb muscle weakness"},{"code":"HP:0002168","display":"Scanning speech"},{"code":"HP:0001265","display":"Hyporeflexia"},{"code":"HP:0001284","display":"Areflexia"},{"code":"HP:0003477","display":"Peripheral axonal neuropathy"},{"code":"HP:0000924","display":"Abnormality of the skeletal system"},{"code":"HP:0001291","display":"Abnormal cranial nerve morphology"},{"code":"HP:0003687","display":"Centrally nucleated skeletal muscle fibers"},{"code":"HP:0001324","display":"Muscle weakness"},{"code":"HP:0002515","display":"Waddling gait"},{"code":"HP:0100280","display":"Crohn's disease"},{"code":"HP:0002631","display":"obsolete Dilatation of ascending aorta"},{"code":"HP:0100026","display":"Arteriovenous malformation"},{"code":"HP:0002637","display":"Cerebral ischemia"},{"code":"HP:0002619","display":"Varicose veins"},{"code":"HP:0001159","display":"Syndactyly"},{"code":"HP:0002069","display":"Bilateral tonic-clonic seizure"},{"code":"HP:0000977","display":"Soft skin"},{"code":"HP:0010648","display":"Dermal translucency"},{"code":"HP:0000978","display":"Bruising susceptibility"},{"code":"HP:0001956","display":"Truncal obesity"},{"code":"HP:0000189","display":"Narrow palate"},{"code":"HP:0000678","display":"Dental crowding"},{"code":"HP:0002870","display":"Obstructive sleep apnea"},{"code":"HP:0001763","display":"Pes planus"},{"code":"HP:0000782","display":"Abnormality of the scapula"},{"code":"HP:0001600","display":"Abnormality of the larynx"},{"code":"HP:0002088","display":"Abnormal lung morphology"},{"code":"HP:0011407","display":"Proportionate tall stature"},{"code":"HP:0000541","display":"Retinal detachment"},{"code":"HP:0001373","display":"Joint dislocation"},{"code":"HP:0000938","display":"Osteopenia"},{"code":"HP:0002942","display":"Thoracic kyphosis"},{"code":"HP:0001840","display":"Metatarsus adductus"},{"code":"HP:0001844","display":"Abnormality of the hallux"},{"code":"HP:0001765","display":"Hammertoe"},{"code":"HP:0000606","display":"Abnormality of the periorbital region"},{"code":"HP:0002757","display":"Recurrent fractures"},{"code":"HP:0000647","display":"Sclerocornea"},{"code":"HP:0001166","display":"Arachnodactyly"},{"code":"HP:0005490","display":"Postnatal macrocephaly"},{"code":"HP:0011363","display":"Abnormality of hair growth rate"},{"code":"HP:0000276","display":"Long face"},{"code":"HP:0000275","display":"Narrow face"},{"code":"HP:0000337","display":"Broad forehead"},{"code":"HP:0002267","display":"Exaggerated startle response"},{"code":"HP:0002187","display":"Intellectual disability, profound"},{"code":"HP:0000728","display":"Impaired ability to form peer relationships"},{"code":"HP:0000733","display":"Stereotypy"},{"code":"HP:0000739","display":"Anxiety"},{"code":"HP:0000929","display":"Abnormal skull morphology"},{"code":"HP:0001965","display":"Abnormal scalp morphology"},{"code":"HP:0100538","display":"Abnormality of the supraorbital ridges"},{"code":"HP:0000309","display":"Abnormality of the midface"},{"code":"HP:0000277","display":"Abnormality of the mandible"},{"code":"HP:0000765","display":"Abnormality of the thorax"},{"code":"HP:0100008","display":"Schwannoma"},{"code":"HP:0030038","display":"Enchondroma"},{"code":"HP:0100777","display":"Exostoses"},{"code":"HP:0011663","display":"Right ventricular cardiomyopathy"},{"code":"HP:0011675","display":"Arrhythmia"},{"code":"HP:0001962","display":"Palpitations"},{"code":"HP:0001279","display":"Syncope"},{"code":"HP:0004756","display":"Ventricular tachycardia"},{"code":"HP:0000252","display":"Microcephaly"},{"code":"HP:0000303","display":"Mandibular prognathia"},{"code":"HP:0000664","display":"Synophrys"},{"code":"HP:0001609","display":"Hoarse voice"},{"code":"HP:0002558","display":"Supernumerary nipple"},{"code":"HP:0001634","display":"Mitral valve prolapse"},{"code":"HP:0000028","display":"Cryptorchidism"},{"code":"HP:0000973","display":"Cutis laxa"},{"code":"HP:0001518","display":"Small for gestational age"},{"code":"HP:0000527","display":"Long eyelashes"},{"code":"HP:0002808","display":"Kyphosis"},{"code":"HP:0000248","display":"Brachycephaly"},{"code":"HP:0000505","display":"Visual impairment"},{"code":"HP:0000512","display":"Abnormal electroretinogram"},{"code":"HP:0000517","display":"Abnormality of the lens"},{"code":"HP:0000529","display":"Progressive visual loss"},{"code":"HP:0000586","display":"Shallow orbits"},{"code":"HP:0000603","display":"Central scotoma"},{"code":"HP:0000939","display":"Osteoporosis"},{"code":"HP:0001377","display":"Limited elbow extension"},{"code":"HP:0001387","display":"Joint stiffness"},{"code":"HP:0001822","display":"Hallux valgus"},{"code":"HP:0002657","display":"Spondylometaphyseal dysplasia"},{"code":"HP:0003026","display":"Short long bone"},{"code":"HP:0006462","display":"Generalized bone demineralization"},{"code":"HP:0008873","display":"Disproportionate short-limb short stature"},{"code":"HP:0008905","display":"Rhizomelia"},{"code":"HP:0008922","display":"Childhood-onset short-trunk short stature"},{"code":"HP:0200020","display":"Corneal erosion"},{"code":"HP:0001172","display":"Abnormal thumb morphology"},{"code":"HP:0002286","display":"Fair hair"},{"code":"HP:0010719","display":"Abnormality of hair 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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-dd-case-control-vs-1","text":{"status":"generated","div":"<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <code>https://uts.nlm.nih.gov/uts/umls</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>C99269</td><td>Case</td></tr><tr><td>C99270</td><td>Control</td></tr></table></li></ul></div>"},"url":"http://example.org/my-dataset/fhir/valueset/case-control","version":"0.2.0","name":"ExampleStudyDDCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2022-10-31T21:26:01+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}

422
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:3656
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:45 GMT
server:nginx
x-request-id:47-1898758

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls</p></div>"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"},"diagnostics" : "(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(000000000033D7AC){FHIRServer.exe} [000000000073E7AC] Unknown function at TMethodImplementationIntercept + $2974AC\r\n(000000000033F46E){FHIRServer.exe} [000000000074046E] Unknown function at TMethodImplementationIntercept + $29916E\r\n(000000000004B6F7){FHIRServer.exe} [000000000044C6F7] Unknown function at __dbk_fcall_wrapper + $2E2F7\r\n(000000000004BFEB){FHIRServer.exe} [000000000044CFEB] Unknown function at __dbk_fcall_wrapper + $2EBEB\r\n(0000000000011276){FHIRServer.exe} [0000000000412276]\r\n(00000000000112B1){FHIRServer.exe} [00000000004122B1]\r\n(0000000000ECECED){FHIRServer.exe} [00000000012CFCED] Unknown function at TMethodImplementationIntercept + $E289ED\r\n(0000000000EDAEDE){FHIRServer.exe} [00000000012DBEDE] Unknown function at TMethodImplementationIntercept + $E34BDE\r\n(0000000000ED861B){FHIRServer.exe} [00000000012D961B] Unknown function at TMethodImplementationIntercept + $E3231B\r\n(0000000000ED72AF){FHIRServer.exe} [00000000012D82AF] Unknown function at TMethodImplementationIntercept + $E30FAF\r\n(000000000109CE14){FHIRServer.exe} [000000000149DE14] Unknown function at TMethodImplementationIntercept + $FF6B14\r\n(000000000109C5C4){FHIRServer.exe} [000000000149D5C4] Unknown function at TMethodImplementationIntercept + $FF62C4\r\n(00000000013DCA77){FHIRServer.exe} [00000000017DDA77] Unknown function at TMethodImplementationIntercept + $1336777\r\n(00000000011587F2){FHIRServer.exe} [00000000015597F2] Unknown function at TMethodImplementationIntercept + $10B24F2\r\n(0000000001150BC7){FHIRServer.exe} [0000000001551BC7] Unknown function at TMethodImplementationIntercept + $10AA8C7\r\n(00000000023509CA){FHIRServer.exe} [00000000027519CA] Unknown function at TMethodImplementationIntercept + $22AA6CA\r\n(000000000234D561){FHIRServer.exe} [000000000274E561] Unknown function at TMethodImplementationIntercept + $22A7261\r\n(0000000002348313){FHIRServer.exe} [0000000002749313] Unknown function at TMethodImplementationIntercept + $22A2013\r\n(0000000006CAD3CF){FHIRServer.exe} [00000000070AE3CF] Unknown function at TMethodImplementationIntercept + $6C070CF\r\n(000000000025CA0C){FHIRServer.exe} [000000000065DA0C] Unknown function at TMethodImplementationIntercept + $1B670C\r\n(000000000025E666){FHIRServer.exe} [000000000065F666] Unknown function at TMethodImplementationIntercept + $1B8366\r\n(000000000023789E){FHIRServer.exe} [000000000063889E] Unknown function at TMethodImplementationIntercept + $19159E\r\n(0000000000235961){FHIRServer.exe} [0000000000636961] Unknown function at TMethodImplementationIntercept + $18F661\r\n(000000000023CE94){FHIRServer.exe} [000000000063DE94] Unknown function at TMethodImplementationIntercept + $196B94\r\n(000000000023BDBD){FHIRServer.exe} [000000000063CDBD] Unknown function at TMethodImplementationIntercept + $195ABD\r\n(0000000000138173){FHIRServer.exe} [0000000000539173] Unknown function at TMethodImplementationIntercept + $91E73\r\n(0000000000011E3D){FHIRServer.exe} [0000000000412E3D]\r\n(0000000000000412){KERNEL32.DLL} [00007FFCC92D1412] BaseThreadInitThunk + $22\r\n(0000000000014504){ntdll.dll   } [00007FFCC9935504] RtlUserThreadStart + $34\r\n"}]}

#53

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
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Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:259
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:50 GMT
server:nginx
x-request-id:47-1898762

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "World"},{"name" : "system","valueString" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueString" : "001"},{"name" : "result","valueBoolean" : true}]}

#54

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://hl7.org/fhir/ValueSet/jurisdiction--2|4.0.1"},{"name":"cache-id","valueString":"eb0534e6-e039-4e05-8c38-fdb4ff65eccb"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:259
content-type:application/fhir+json
date:Mon, 31 Oct 2022 21:26:50 GMT
last-modified:Mon, 31 Oct 2022 21:26:50 GMT
pragma:no-cache
server:nginx
x-gdpr-disclosure:All access to this server is logged as AuditEvent Resources, and these store your ip address (and logged in user, if one exists). Also, your IP address is logged with Google Analytics for building geomaps of server usage. Your continued use of the API constitutes agreement to these terms. See [link] for erasure requests
x-request-id:47-1898763

{"resourceType" : "Parameters","parameter" : [{"name" : "display","valueString" : "World"},{"name" : "system","valueString" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueString" : "001"},{"name" : "result","valueBoolean" : true}]}