Terminology Server Log

--- 1 ----------------- Request: 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 Response: 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:1519 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:49:31 GMT pragma:no-cache server:nginx x-request-id:21-133335 {"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" : "4.0.1-2.1.0","name" : "FHIR Reference Server Conformance Statement","status" : "active","date" : "2023-06-12T15:49:31.735Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"kind" : "instance","instantiates" : ["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software" : {"name" : "Reference Server","version" : "2.1.0","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 ----------------- Request: 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 Response: 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:74076 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:49:31 GMT server:nginx x-request-id:21-133336 {"resourceType" : "TerminologyCapabilities","id" : "FhirServer","url" : "http://tx.fhir.org/r4/metadata","version" : "2.0.0","name" : "FHIR Reference Server Teminology Capability Statement","status" : "active","date" : "2023-06-12T11:01:18.473Z","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" : 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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","valueId":"9b42fc1f-db0b-4c9c-90e7-2ec475470ffe"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:254 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:49:58 GMT last-modified:Mon, 12 Jun 2023 15:49:58 GMT pragma:no-cache server:nginx x-request-id:21-133364 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]} --- 14 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:254 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:49:58 GMT last-modified:Mon, 12 Jun 2023 15:49:58 GMT pragma:no-cache server:nginx x-request-id:21-133365 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]} --- 15 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:518 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:49:59 GMT last-modified:Mon, 12 Jun 2023 15:49:59 GMT pragma:no-cache server:nginx x-request-id:21-133366 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueUri" : "https://uts.nlm.nih.gov/uts/umls"},{"name" : "message","valueString" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},"location" : ["Coding.system"]}]}}]} --- 16 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:290 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:49:59 GMT last-modified:Mon, 12 Jun 2023 15:49:59 GMT pragma:no-cache server:nginx x-request-id:21-133367 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LP35925-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Body mass index (BMI)"}]} --- 17 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:274 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133372 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "uL"}]} --- 18 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"129314006","display":"Biopsy - action"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:344 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133373 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "129314006"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230131"},{"name" : "display","valueString" : "Biopsy - action"}]} --- 19 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:350 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133374 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "21483005"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230131"},{"name" : "display","valueString" : "Central nervous system"}]} --- 20 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:280 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133375 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]} --- 21 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:274 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133376 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "TR"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "TR"}]} --- 22 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69548-6","display":"Genetic variant assessment"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:293 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133377 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69548-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variant assessment"}]} --- 23 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:275 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:04 GMT last-modified:Mon, 12 Jun 2023 15:50:04 GMT pragma:no-cache server:nginx x-request-id:21-133378 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA9633-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Present"}]} --- 24 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA26398-0","display":"Sequencing"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:279 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133379 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA26398-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Sequencing"}]} --- 25 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:284 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133380 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48018-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Gene studied [ID]"}]} --- 26 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48001-2","display":"Cytogenetic (chromosome) location"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:300 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133381 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48001-2"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Cytogenetic (chromosome) location"}]} --- 27 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:290 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133382 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69547-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic ref allele [ID]"}]} --- 28 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69551-0","display":"Genomic alt allele [ID]"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:290 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133383 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69551-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic alt allele [ID]"}]} --- 29 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:280 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133384 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53034-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Allelic state"}]} --- 30 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6706-1","display":"Heterozygous"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:280 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133385 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6706-1"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Heterozygous"}]} --- 31 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:308 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133386 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "62374-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Human reference sequence assembly version"}]} --- 32 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA14029-5","display":"GRCh37"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:275 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133387 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA14029-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "GRCh37"}]} --- 33 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:301 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133388 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "51958-7"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Transcript reference sequence [ID]"}]} --- 34 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48004-6","display":"DNA change (c.HGVS)"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:286 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:05 GMT last-modified:Mon, 12 Jun 2023 15:50:05 GMT pragma:no-cache server:nginx x-request-id:21-133389 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48004-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "DNA change (c.HGVS)"}]} --- 35 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 500 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:427 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:06 GMT server:nginx x-request-id:21-133392 {"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "

Error parsing HGVS response: Error parsing JSON source: Unexpected char \"<\" in json stream at Line 0 (path=[])

"},"issue" : [{"severity" : "error","details" : {"text" : "Error parsing HGVS response: Error parsing JSON source: Unexpected char \"<\" in json stream at Line 0 (path=[])"}}]} --- 36 ----------------- Request: POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/ucum-units--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"9b42fc1f-db0b-4c9c-90e7-2ec475470ffe"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:280 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:07 GMT last-modified:Mon, 12 Jun 2023 15:50:07 GMT pragma:no-cache server:nginx x-request-id:21-133393 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]} --- 37 ----------------- Request: POST http://tx.fhir.org/r4/ValueSet/$validate-code? 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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":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 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:312 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:07 GMT last-modified:Mon, 12 Jun 2023 15:50:07 GMT pragma:no-cache server:nginx x-request-id:21-133398 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53037-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variation clinical significance [Imp]"}]} --- 42 ----------------- Request: POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0 User-Agent: hapi-fhir-tooling-client Accept-Charset: UTF-8 Accept: application/fhir+json Content-Type: application/fhir+json;charset=UTF-8 {"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6682-4","display":"Unknown Significance"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]} Response: 200 access-control-allow-methods:GET, POST, PUT, PATCH, DELETE access-control-allow-origin:* access-control-expose-headers:Content-Location, Location cache-control:public, max-age=600 connection:keep-alive content-length:288 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:07 GMT last-modified:Mon, 12 Jun 2023 15:50:07 GMT pragma:no-cache server:nginx x-request-id:21-133399 {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6682-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Unknown Significance"}]} --- 43 ----------------- Request: POST http://tx.fhir.org/r4/ValueSet/$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"}]} Response: 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:373 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:33 GMT server:nginx x-request-id:21-133412 {"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "

Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls

Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code Display
C99269 Case
C99270 Control

"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-06-12T15:49:49+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"}]} Response: 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:373 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:33 GMT server:nginx x-request-id:21-133415 {"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "

Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls

Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code Display
C99269 Case
C99270 Control

"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-06-12T15:49:49+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"}]} Response: 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:373 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:35 GMT server:nginx x-request-id:21-133419 {"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "

Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls

"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]} --- 46 ----------------- Request: 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"}]} Response: 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:373 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:37 GMT server:nginx x-request-id:21-133422 {"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "

Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls

Properties

This code system defines the following properties for its concepts

Code	Type	Description
parent	code	Parent codes.
imported	boolean	Indicates if the concept is imported from another code system.
root	boolean	Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecated	boolean	Indicates if this concept is deprecated.

Filters

Code	Description	operator	Value
root		=	True or false.
deprecated		=	True or false.
imported		=	True or false

Concepts

This code system http://purl.obolibrary.org/obo/hp.owl provides a fragment that includes following codes:

Code	Display
HP:0000365	Hearing impairment
HP:0002564	obsolete Malformation of the heart and great vessels
HP:0001028	Hemangioma
HP:0000476	Cystic hygroma
HP:0000568	Microphthalmia
HP:0000518	Cataract
HP:0000612	Iris coloboma
HP:0000567	Chorioretinal coloboma
HP:0000316	Hypertelorism
HP:0000482	Microcornea
HP:0000588	Optic nerve coloboma
HP:0004426	Abnormality of the cheek
HP:0009125	Lipodystrophy
HP:0002023	Anal atresia
HP:0003468	Abnormal vertebral morphology
HP:0000545	Myopia
HP:0000122	Unilateral renal agenesis
HP:0002143	Abnormality of the spinal cord
HP:0003508	Proportionate short stature
HP:0000271	Abnormality of the face
HP:0000637	Long palpebral fissure
HP:0000492	Abnormal eyelid morphology
HP:0000389	Chronic otitis media
HP:0000400	Macrotia
HP:0000405	Conductive hearing impairment
HP:0012712	Mild hearing impairment
HP:0005280	Depressed nasal bridge
HP:0000431	Wide nasal bridge
HP:0000319	Smooth philtrum
HP:0000175	Cleft palate
HP:0001611	Nasal speech
HP:0002099	Asthma
HP:0001397	Hepatic steatosis
HP:0001081	Cholelithiasis
HP:0002650	Scoliosis
HP:0001212	Prominent fingertip pads
HP:0001328	Specific learning disability
HP:0000824	Growth hormone deficiency
HP:0002607	Bowel incontinence
HP:0100731	Transverse facial cleft
HP:0000528	Anophthalmia
HP:0000601	Hypotelorism
HP:0000369	Low-set ears
HP:0001274	Agenesis of corpus callosum
HP:0002084	Encephalocele
HP:0007033	Cerebellar dysplasia
HP:0100336	Bilateral cleft lip
HP:0100337	Bilateral cleft palate
HP:0001511	Intrauterine growth retardation
HP:0011451	Congenital microcephaly
HP:0000324	Facial asymmetry
HP:0000581	Blepharophimosis
HP:0000508	Ptosis
HP:0008551	Microtia
HP:0001631	Atrial septal defect
HP:0000085	Horseshoe kidney
HP:0011927	Short digit
HP:0001156	Brachydactyly
HP:0002066	Gait ataxia
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001562	Oligohydramnios
HP:0001195	Single umbilical artery
HP:0006349	Agenesis of permanent teeth
HP:0000668	Hypodontia
HP:0000677	Oligodontia
HP:0001252	Muscular hypotonia
HP:0003429	CNS hypomyelination
HP:0010864	Intellectual disability, severe
HP:0004325	Decreased body weight
HP:0000666	Horizontal nystagmus
HP:0000218	High palate
HP:0010809	Broad uvula
HP:0000767	Pectus excavatum
HP:0003691	Scapular winging
HP:0002616	Aortic root aneurysm
HP:0001601	Laryngomalacia
HP:0002021	Pyloric stenosis
HP:0001388	Joint laxity
HP:0001187	Hyperextensibility of the finger joints
HP:0000741	Apathy
HP:0000817	Poor eye contact
HP:0000821	Hypothyroidism
HP:0000002	Abnormality of body height
HP:0000079	Abnormality of the urinary system
HP:0000164	Abnormality of the dentition
HP:0000364	Hearing abnormality
HP:0000366	Abnormality of the nose
HP:0000464	Abnormality of the neck
HP:0000707	Abnormality of the nervous system
HP:0000708	Behavioral abnormality
HP:0000769	Abnormality of the breast
HP:0000772	Abnormality of the ribs
HP:0000775	Abnormality of the diaphragm
HP:0000889	Abnormality of the clavicle
HP:0000925	Abnormality of the vertebral column
HP:0001080	Biliary tract abnormality
HP:0001392	Abnormality of the liver
HP:0001438	Abnormal abdomen morphology
HP:0001608	Abnormality of the voice
HP:0001627	Abnormal heart morphology
HP:0001732	Abnormality of the pancreas
HP:0001739	Abnormality of the nasopharynx
HP:0001743	Abnormality of the spleen
HP:0001760	Abnormal foot morphology
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0002031	Abnormal esophagus morphology
HP:0002244	Abnormality of the small intestine
HP:0002246	Abnormality of the duodenum
HP:0002250	Abnormal large intestine morphology
HP:0002644	Abnormality of pelvic girdle bone morphology
HP:0002664	Neoplasm
HP:0002715	Abnormality of the immune system
HP:0002814	Abnormality of the lower limb
HP:0002817	Abnormality of the upper limb
HP:0005483	Abnormal epiglottis morphology
HP:0008777	Abnormal vocal cord morphology
HP:0011844	Abnormal appendicular skeleton morphology
HP:0012732	Anorectal anomaly
HP:0001508	Failure to thrive
HP:0002902	Hyponatremia
HP:0012236	Elevated sweat chloride
HP:0000347	Micrognathia
HP:0000926	Platyspondyly
HP:0001371	Flexion contracture
HP:0001875	Neutropenia
HP:0001888	Lymphopenia
HP:0002857	Genu valgum
HP:0002986	Radial bowing
HP:0003015	Flared metaphysis
HP:0003025	Metaphyseal irregularity
HP:0003097	Short femur
HP:0003300	Ovoid vertebral bodies
HP:0003307	Hyperlordosis
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0005792	Short humerus
HP:0006248	Limited wrist movement
HP:0000944	Abnormality of the metaphysis
HP:0011921	Exudative pleural effusion
HP:0003043	Abnormality of the shoulder
HP:0000290	Abnormality of the forehead
HP:0005288	Abnormality of the nares
HP:0000234	Abnormality of the head
HP:0004323	Abnormality of body weight
HP:0000483	Astigmatism
HP:0011003	High myopia
HP:0000470	Short neck
HP:0030044	Flexion contracture of digit
HP:0100871	Abnormality of the palm
HP:0004334	Dermal atrophy
HP:0001845	Overlapping toe
HP:0000496	Abnormality of eye movement
HP:0001780	Abnormality of toe
HP:0001626	Abnormality of the cardiovascular system
HP:0002086	Abnormality of the respiratory system
HP:0000818	Abnormality of the endocrine system
HP:0012372	Abnormal eye morphology
HP:0009473	Joint contracture of the hand
HP:0003199	Decreased muscle mass
HP:0003202	Skeletal muscle atrophy
HP:0003551	Difficulty climbing stairs
HP:0002355	Difficulty walking
HP:0003546	Exercise intolerance
HP:0003325	Limb-girdle muscle weakness
HP:0003701	Proximal muscle weakness
HP:0003547	Shoulder girdle muscle weakness
HP:0007340	Lower limb muscle weakness
HP:0002168	Scanning speech
HP:0001265	Hyporeflexia
HP:0001284	Areflexia
HP:0003477	Peripheral axonal neuropathy
HP:0000924	Abnormality of the skeletal system
HP:0001291	Abnormal cranial nerve morphology
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0001324	Muscle weakness
HP:0002515	Waddling gait
HP:0100280	Crohn's disease
HP:0002631	obsolete Dilatation of ascending aorta
HP:0100026	Arteriovenous malformation
HP:0002637	Cerebral ischemia
HP:0002619	Varicose veins
HP:0001159	Syndactyly
HP:0002069	Bilateral tonic-clonic seizure
HP:0000977	Soft skin
HP:0010648	Dermal translucency
HP:0000978	Bruising susceptibility
HP:0001956	Truncal obesity
HP:0000189	Narrow palate
HP:0000678	Dental crowding
HP:0002870	Obstructive sleep apnea
HP:0001763	Pes planus
HP:0000782	Abnormality of the scapula
HP:0001600	Abnormality of the larynx
HP:0002088	Abnormal lung morphology
HP:0011407	Proportionate tall stature
HP:0000541	Retinal detachment
HP:0001373	Joint dislocation
HP:0000938	Osteopenia
HP:0002942	Thoracic kyphosis
HP:0001840	Metatarsus adductus
HP:0001844	Abnormality of the hallux
HP:0001765	Hammertoe
HP:0000606	Abnormality of the periorbital region
HP:0002757	Recurrent fractures
HP:0000647	Sclerocornea
HP:0001166	Arachnodactyly
HP:0005490	Postnatal macrocephaly
HP:0011363	Abnormality of hair growth rate
HP:0000276	Long face
HP:0000275	Narrow face
HP:0000337	Broad forehead
HP:0002267	Exaggerated startle response
HP:0002187	Intellectual disability, profound
HP:0000728	Impaired ability to form peer relationships
HP:0000733	Stereotypy
HP:0000739	Anxiety
HP:0000929	Abnormal skull morphology
HP:0001965	Abnormal scalp morphology
HP:0100538	Abnormality of the supraorbital ridges
HP:0000309	Abnormality of the midface
HP:0000277	Abnormality of the mandible
HP:0000765	Abnormality of the thorax
HP:0100008	Schwannoma
HP:0030038	Enchondroma
HP:0100777	Exostoses
HP:0011663	Right ventricular cardiomyopathy
HP:0011675	Arrhythmia
HP:0001962	Palpitations
HP:0001279	Syncope
HP:0004756	Ventricular tachycardia
HP:0000252	Microcephaly
HP:0000303	Mandibular prognathia
HP:0000664	Synophrys
HP:0001609	Hoarse voice
HP:0002558	Supernumerary nipple
HP:0001634	Mitral valve prolapse
HP:0000028	Cryptorchidism
HP:0000973	Cutis laxa
HP:0001518	Small for gestational age
HP:0000527	Long eyelashes
HP:0002808	Kyphosis
HP:0000248	Brachycephaly
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000517	Abnormality of the lens
HP:0000529	Progressive visual loss
HP:0000586	Shallow orbits
HP:0000603	Central scotoma
HP:0000939	Osteoporosis
HP:0001377	Limited elbow extension
HP:0001387	Joint stiffness
HP:0001822	Hallux valgus
HP:0002657	Spondylometaphyseal dysplasia
HP:0003026	Short long bone
HP:0006462	Generalized bone demineralization
HP:0008873	Disproportionate short-limb short stature
HP:0008905	Rhizomelia
HP:0008922	Childhood-onset short-trunk short stature
HP:0200020	Corneal erosion
HP:0001172	Abnormal thumb morphology
HP:0002286	Fair hair
HP:0010719	Abnormality of hair texture
HP:0010720	Abnormal hair pattern
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001663	Ventricular fibrillation
HP:0011712	Right bundle branch block
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000322	Short philtrum
HP:0000463	Anteverted nares
HP:0000494	Downslanted palpebral fissures
HP:0000543	Optic disc pallor
HP:0000699	Diastema
HP:0000773	Short ribs
HP:0000887	Cupped ribs
HP:0000946	Hypoplastic ilia
HP:0000954	Single transverse palmar crease
HP:0001182	Tapered finger
HP:0001537	Umbilical hernia
HP:0002007	Frontal bossing
HP:0002980	Femoral bowing
HP:0002982	Tibial bowing
HP:0003021	Metaphyseal cupping
HP:0005011	Mesomelic arm shortening
HP:0008803	obsolete Narrow sacroiliac notch
HP:0009117	Aplasia/Hypoplasia of the maxilla
HP:0011220	Prominent forehead
HP:0012801	Narrow jaw
HP:0000243	Trigonocephaly
HP:0000358	Posteriorly rotated ears
HP:0000411	Protruding ear
HP:0000646	Amblyopia
HP:0002812	Coxa vara
HP:0002970	Genu varum
HP:0012775	Stellate iris
HP:0000278	Retrognathia
HP:0009796	Branchial cyst
HP:0002474	Expressive language delay
HP:0007018	Attention deficit hyperactivity disorder
HP:0003198	Myopathy
HP:0003324	Generalized muscle weakness
HP:0003552	Muscle stiffness
HP:0003554	Type 2 muscle fiber atrophy
HP:0003557	Increased variability in muscle fiber diameter
HP:0009025	Increased connective tissue
HP:0003635	Loss of subcutaneous adipose tissue in limbs
HP:0002597	Abnormality of the vasculature
HP:0001649	Tachycardia
HP:0001638	Cardiomyopathy
HP:0001654	Abnormal heart valve morphology
HP:0001671	Abnormal cardiac septum morphology
HP:0000103	Polyuria
HP:0000114	Proximal tubulopathy
HP:0001878	Hemolytic anemia
HP:0001931	Hypochromic anemia
HP:0001935	Microcytic anemia
HP:0001959	Polydipsia
HP:0001994	Renal Fanconi syndrome
HP:0002134	Abnormality of the basal ganglia
HP:0002188	Delayed CNS myelination
HP:0002908	Conjugated hyperbilirubinemia
HP:0003774	Stage 5 chronic kidney disease
HP:0010700	obsolete Total cataract
HP:0000193	Bifid uvula
HP:0000219	Thin upper lip vermilion
HP:0000426	Prominent nasal bridge
HP:0000452	Choanal stenosis
HP:0000490	Deeply set eye
HP:0000540	Hypermetropia
HP:0000579	Nasolacrimal duct obstruction
HP:0000684	Delayed eruption of teeth
HP:0000960	Sacral dimple
HP:0000998	Hypertrichosis
HP:0001643	Patent ductus arteriosus
HP:0010813	Abnormal number of hair whorls
HP:0012384	Rhinitis
HP:0012745	Short palpebral fissure
HP:0000359	Abnormality of the inner ear
HP:0000429	Abnormality of the nasal alae
HP:0000436	Abnormality of the nasal tip
HP:0000499	Abnormal eyelash morphology
HP:0000534	Abnormal eyebrow morphology
HP:0000951	Abnormality of the skin
HP:0001000	Abnormality of skin pigmentation
HP:0001597	Abnormality of the nail
HP:0006483	Abnormal number of teeth
HP:0009929	Abnormality of the columella
HP:0011119	Abnormality of the nasal dorsum
HP:0012808	Abnormal nasal base
HP:0100490	Camptodactyly of finger
HP:0000964	Eczema
HP:0004442	Sagittal craniosynostosis
HP:0000414	Bulbous nose
HP:0003180	Flat acetabular roof
HP:0000422	Abnormality of the nasal bridge
HP:0000614	Abnormal nasolacrimal system morphology
HP:0001167	Abnormality of finger
HP:0001595	Abnormal hair morphology
HP:0012373	Abnormal eye physiology
HP:0001655	Patent foramen ovale
HP:0001647	Bicuspid aortic valve
HP:0000574	Thick eyebrow
HP:0001169	Broad palm
HP:0006471	Fixed elbow flexion
HP:0008689	Bilateral cryptorchidism
HP:0011304	Broad thumb
HP:0005110	Atrial fibrillation
HP:0001633	Abnormal mitral valve morphology
HP:0001641	Abnormal pulmonary valve morphology
HP:0001702	Abnormal tricuspid valve morphology
HP:0000012	Urinary urgency
HP:0000020	Urinary incontinence
HP:0000131	Uterine leiomyoma
HP:0000132	Menorrhagia
HP:0000138	Ovarian cyst
HP:0000853	Goiter
HP:0000953	Hyperpigmentation of the skin
HP:0001061	Acne
HP:0002315	Headache
HP:0004324	Increased body weight
HP:0000069	Abnormality of the ureter
HP:0000077	Abnormality of the kidney
HP:0000759	Abnormal peripheral nervous system morphology
HP:0008069	Neoplasm of the skin
HP:0011276	Vascular skin abnormality
HP:0000705	Amelogenesis imperfecta
HP:0001256	Intellectual disability, mild
HP:0000325	Triangular face
HP:0000160	Narrow mouth
HP:0009487	Ulnar deviation of the hand
HP:0001249	Intellectual disability
HP:0008064	Ichthyosis
HP:0000311	Round face
HP:0001653	Mitral regurgitation
HP:0001771	Achilles tendon contracture
HP:0012032	Lipoma
HP:0012368	Flat face
HP:0030053	Stiff skin
HP:0011124	Abnormality of epidermal morphology
HP:0011097	Epileptic spasm
HP:0000407	Sensorineural hearing impairment
HP:0000331	Short chin
HP:0000340	Sloping forehead
HP:0000486	Strabismus
HP:0000713	Agitation
HP:0000802	Impotence
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001321	Cerebellar hypoplasia
HP:0001322	obsolete Brain very small
HP:0002061	Lower limb spasticity
HP:0002529	Neuronal loss in central nervous system
HP:0002540	Inability to walk
HP:0005484	Postnatal microcephaly
HP:0012850	Small intestinal dysmotility
HP:0000504	Abnormality of vision
HP:0002118	Abnormality of the cerebral ventricles
HP:0002363	Abnormality of brainstem morphology
HP:0010651	Abnormal meningeal morphology
HP:0100024	Conspicuously happy disposition
HP:0002538	Abnormality of the cerebral cortex
HP:0000054	Micropenis
HP:0000215	Thick upper lip vermilion
HP:0000293	Full cheeks
HP:0000349	Widow's peak
HP:0000444	Convex nasal ridge
HP:0000506	Telecanthus
HP:0000592	Blue sclerae
HP:0000691	Microdontia
HP:0000698	Conical tooth
HP:0002000	Short columella
HP:0002097	Emphysema
HP:0002209	Sparse scalp hair
HP:0002816	Genu recurvatum
HP:0005116	Arterial tortuosity
HP:0007957	Corneal opacity
HP:0008070	Sparse hair
HP:0009623	Proximal placement of thumb
HP:0010055	Broad hallux
HP:0011318	Bicoronal synostosis
HP:0011968	Feeding difficulties
HP:0200067	Recurrent spontaneous abortion
HP:0011819	Submucous cleft soft palate
HP:0000268	Dolichocephaly
HP:0003302	Spondylolisthesis
HP:0000582	Upslanted palpebral fissure
HP:0000952	Jaundice
HP:0001298	Encephalopathy
HP:0001396	Cholestasis
HP:0002059	Cerebral atrophy
HP:0002171	Gliosis
HP:0002240	Hepatomegaly
HP:0002353	EEG abnormality
HP:0002446	Astrocytosis
HP:0003287	Abnormality of mitochondrial metabolism
HP:0011449	Knee clonus
HP:0012852	Hepatic bridging fibrosis
HP:0100626	Chronic hepatic failure
HP:0000385	Small earlobe
HP:0009748	Large earlobe
HP:0000157	Abnormality of the tongue
HP:0000172	Abnormality of the uvula
HP:0000174	Abnormal palate morphology
HP:0000306	Abnormality of the chin
HP:0004408	Abnormality of the sense of smell
HP:0009912	Abnormality of the tragus
HP:0000537	Epicanthus inversus
HP:0000565	Esotropia
HP:0000752	Hyperactivity
HP:0003186	Inverted nipples
HP:0012503	Abnormality of the pituitary gland
HP:0100710	Impulsivity
HP:0000357	Abnormal location of ears
HP:0000820	Abnormality of the thyroid gland
HP:0000828	Abnormality of the parathyroid gland
HP:0000834	Abnormality of the adrenal glands
HP:0012093	Abnormality of endocrine pancreas physiology
HP:0000269	Prominent occiput
HP:0000535	Sparse and thin eyebrow
HP:0000639	Nystagmus
HP:0000718	Aggressive behavior
HP:0000957	Cafe-au-lait spot
HP:0000256	Macrocephaly
HP:0000750	Delayed speech and language development
HP:0000963	Thin skin
HP:0001260	Dysarthria
HP:0002194	Delayed gross motor development
HP:0003196	Short nose
HP:0001155	Abnormality of the hand
HP:0100022	Abnormality of movement
HP:0010862	Delayed fine motor development
HP:0000343	Long philtrum
HP:0000717	Autism
HP:0001883	Talipes
HP:0002553	Highly arched eyebrow
HP:0007488	Diffuse skin atrophy
HP:0000822	Hypertension
HP:0001278	Orthostatic hypotension
HP:0001944	Dehydration
HP:0001945	Fever
HP:0002019	Constipation
HP:0002020	Gastroesophageal reflux
HP:0002027	Abdominal pain
HP:0002718	Recurrent bacterial infections
HP:0002841	Recurrent fungal infections
HP:0004395	Malnutrition
HP:0009830	Peripheral neuropathy
HP:0000126	Hydronephrosis
HP:0000519	Developmental cataract
HP:0000648	Optic atrophy
HP:0001053	Hypopigmented skin patches
HP:0001087	Developmental glaucoma
HP:0002119	Ventriculomegaly
HP:0002280	Enlarged cisterna magna
HP:0003298	Spina bifida occulta
HP:0004467	Preauricular pit
HP:0008511	Central posterior corneal opacity
HP:0010780	Hyperacusis
HP:0030048	Colpocephaly
HP:0100335	Non-midline cleft lip
HP:0000525	Abnormality iris morphology
HP:0002719	Recurrent infections
HP:0000153	Abnormality of the mouth
HP:0001903	Anemia
HP:0002094	Dyspnea
HP:0002206	Pulmonary fibrosis
HP:0002789	Tachypnea
HP:0002793	Abnormal pattern of respiration
HP:0003565	Elevated erythrocyte sedimentation rate
HP:0006517	Intraalveolar phospholipid accumulation
HP:0006530	Interstitial pulmonary abnormality
HP:0100759	Clubbing of fingers
HP:0002103	Abnormal pleura morphology
HP:0001596	Alopecia
HP:0001882	Leukopenia
HP:0002013	Vomiting
HP:0002028	Chronic diarrhea
HP:0002573	Hematochezia
HP:0002960	Autoimmunity
HP:0005387	Combined immunodeficiency
HP:0011109	Chronic sinusitis
HP:0004429	Recurrent viral infections
HP:0000280	Coarse facial features
HP:0000294	Low anterior hairline
HP:0000577	Exotropia
HP:0001873	Thrombocytopenia
HP:0002011	Morphological central nervous system abnormality
HP:0006610	Wide intermamillary distance
HP:0011231	Prominent eyelashes
HP:0012718	Morphological abnormality of the gastrointestinal tract
HP:0002024	Malabsorption
HP:0001394	Cirrhosis
HP:0001414	Microvesicular hepatic steatosis
HP:0001403	Macrovesicular hepatic steatosis
HP:0001410	Decreased liver function
HP:0001409	Portal hypertension
HP:0001744	Splenomegaly
HP:0003394	Muscle spasm
HP:0003750	Increased muscle fatiguability
HP:0002123	Generalized myoclonic seizure
HP:0002219	Facial hypertrichosis
HP:0000831	Insulin-resistant diabetes mellitus
HP:0001891	Iron deficiency anemia
HP:0001264	Spastic diplegia
HP:0002313	Spastic paraparesis
HP:0001347	Hyperreflexia
HP:0002460	Distal muscle weakness
HP:0000763	Sensory neuropathy
HP:0001268	Mental deterioration
HP:0002169	Clonus
HP:0001332	Dystonia
HP:0100716	Self-injurious behavior
HP:0000602	Ophthalmoplegia
HP:0001251	Ataxia
HP:0000776	Congenital diaphragmatic hernia
HP:0000410	Mixed hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0004437	Cranial hyperostosis
HP:0011001	Increased bone mineral density
HP:0000956	Acanthosis nigricans
HP:0000958	Dry skin
HP:0000580	Pigmentary retinopathy
HP:0000649	Abnormality of visual evoked potentials
HP:0000657	Oculomotor apraxia
HP:0000479	Abnormal retinal morphology
HP:0001317	Abnormal cerebellum morphology
HP:0001533	Slender build
HP:0001629	Ventricular septal defect
HP:0000703	Dentinogenesis imperfecta
HP:0000914	Shield chest
HP:0001500	Broad finger
HP:0003086	Acromesomelia
HP:0003416	Spinal canal stenosis
HP:0002815	Abnormality of the knee
HP:0002992	Abnormality of tibia morphology
HP:0001639	Hypertrophic cardiomyopathy
HP:0003236	Elevated serum creatine kinase
HP:0001369	Arthritis
HP:0003560	Muscular dystrophy
HP:0003974	Absent radius
HP:0002818	Abnormality of the radius
HP:0001561	Polyhydramnios
HP:0002299	Brittle hair
HP:0002208	Coarse hair
HP:0002213	Fine hair
HP:0000522	Alacrima
HP:0100704	Cerebral visual impairment
HP:0012713	Moderate hearing impairment
HP:0002307	Drooling
HP:0002714	Downturned corners of mouth
HP:0000191	Accessory oral frenulum
HP:0000158	Macroglossia
HP:0012020	Right aortic arch
HP:0002104	Apnea
HP:0000598	Abnormality of the ear
HP:0007874	Almond-shaped palpebral fissure
HP:0010804	Tented upper lip vermilion
HP:0000885	Broad ribs
HP:0000768	Pectus carinatum
HP:0001680	Coarctation of aorta
HP:0000687	Widely spaced teeth
HP:0000047	Hypospadias
HP:0001943	Hypoglycemia
HP:0012369	Abnormality of malar bones
HP:0009900	Unilateral deafness
HP:0000023	Inguinal hernia
HP:0000074	Ureteropelvic junction obstruction
HP:0001800	Hypoplastic toenails
HP:0001804	Hypoplastic fingernail
HP:0002949	Fused cervical vertebrae
HP:0008050	Abnormality of the palpebral fissures
HP:0008577	Underfolded helix
HP:0008589	Hypoplastic helices
HP:0010863	Receptive language delay
HP:0002282	Gray matter heterotopia
HP:0002085	Occipital encephalocele
HP:0001057	Aplasia cutis congenita
HP:0000211	Trismus
HP:0008422	Vertebral wedging
HP:0003170	Abnormality of the acetabulum
HP:0003272	Abnormality of the hip bone
HP:0003028	Abnormality of the ankles
HP:0003301	Irregular vertebral endplates
HP:0010508	Metatarsus valgus
HP:0009811	Abnormality of the elbow
HP:0000736	Short attention span
HP:0002912	Methylmalonic acidemia
HP:0001941	Acidosis
HP:0001992	Organic aciduria
HP:0009027	Foot dorsiflexor weakness
HP:0002063	Rigidity
HP:0000384	Preauricular skin tag
HP:0200046	Cat cry
HP:0001357	Plagiocephaly
HP:0000670	Carious teeth
HP:0011090	Fused teeth
HP:0012810	Wide nasal base
HP:0010296	Ankyloglossia
HP:0001636	Tetralogy of Fallot
HP:0001305	Dandy-Walker malformation
HP:0000238	Hydrocephalus
HP:0005469	Flat occiput
HP:0000270	Delayed cranial suture closure
HP:0000239	Large fontanelles
HP:0010537	Wide cranial sutures
HP:0002217	Slow-growing hair
HP:0000587	Abnormality of the optic nerve
HP:0005989	Redundant neck skin
HP:0010775	Vascular ring
HP:0002779	Tracheomalacia
HP:0002827	Hip dislocation
HP:0001302	Pachygyria
HP:0007362	Aplasia/Hypoplasia of the brainstem
HP:0001558	Decreased fetal movement
HP:0010878	Fetal cystic hygroma
HP:0011398	Central hypotonia
HP:0002071	Abnormality of extrapyramidal motor function
HP:0000826	Precocious puberty
HP:0000014	Abnormality of the bladder
HP:0005037	Proximal radio-ulnar synostosis
HP:0100543	Cognitive impairment
HP:0000481	Abnormal cornea morphology
HP:0000076	Vesicoureteral reflux
HP:0000297	Facial hypotonia
HP:0000391	Thickened helices
HP:0001162	Postaxial hand polydactyly
HP:0001385	Hip dysplasia
HP:0002342	Intellectual disability, moderate
HP:0003191	Cleft ala nasi
HP:0009765	Low hanging columella
HP:0010297	Bifid tongue
HP:0011330	Metopic synostosis
HP:0012804	Corneal ulceration
HP:0010485	Hyperextensibility at elbow
HP:0000609	Optic nerve hypoplasia
HP:0001176	Large hands
HP:0004233	Advanced ossification of carpal bones
HP:0100842	Septo-optic dysplasia
HP:0002034	Abnormality of the rectum
HP:0002283	Global brain atrophy
HP:0003115	Abnormal EKG
HP:0002577	Abnormal stomach morphology
HP:0002539	Cortical dysplasia
HP:0006818	4-layered lissencephaly
HP:0000593	Abnormal anterior chamber morphology
HP:0000179	Thick lower lip vermilion
HP:0002002	Deep philtrum
HP:0009931	Enlarged naris
HP:0002948	Vertebral fusion
HP:0002937	Hemivertebrae
HP:0002308	Arnold-Chiari malformation
HP:0011320	Unilambdoid synostosis
HP:0002781	Upper airway obstruction
HP:0001363	Craniosynostosis
HP:0000204	Cleft upper lip
HP:0001738	Exocrine pancreatic insufficiency
HP:0002823	Abnormality of femur morphology
HP:0000823	Delayed puberty
HP:0100279	Ulcerative colitis
HP:0003834	Shoulder dislocation
HP:0001065	Striae distensae
HP:0000448	Prominent nose
HP:0000554	Uveitis
HP:0001006	obsolete Hypotrichosis
HP:0000501	Glaucoma
HP:0000262	Turricephaly
HP:0000729	Autistic behavior
HP:0010800	Absent cupid's bow
HP:0010808	Protruding tongue
HP:0009927	Aplasia of the nose
HP:0100539	Periorbital edema
HP:0000629	Periorbital fullness
HP:0000178	Abnormality of lower lip
HP:0000168	Abnormality of the gingiva
HP:0001022	Albinism
HP:0000177	Abnormality of upper lip
HP:0001337	Tremor
HP:0002135	Basal ganglia calcification
HP:0002352	Leukoencephalopathy
HP:0002514	Cerebral calcification
HP:0010576	Intracranial cystic lesion
HP:0001622	Premature birth
HP:0002415	Leukodystrophy
HP:0001320	Cerebellar vermis hypoplasia
HP:0001773	Short foot
HP:0002750	Delayed skeletal maturation
HP:0004415	Pulmonary artery stenosis
HP:0012741	Unilateral cryptorchidism
HP:0000036	Abnormality of the penis
HP:0002408	Cerebral arteriovenous malformation
HP:0007457	Prominent veins on trunk
HP:0000378	Cupped ear
HP:0000396	Overfolded helix
HP:0000035	Abnormal testis morphology
HP:0009895	Abnormality of the crus of the helix
HP:0000034	Hydrocele testis
HP:0000722	Obsessive-compulsive behavior
HP:0000845	Growth hormone excess
HP:0100829	Galactorrhea
HP:0001578	Increased circulating cortisol level
HP:0000786	Primary amenorrhea
HP:0001701	Pericarditis
HP:0002076	Migraine
HP:0004755	Supraventricular tachycardia
HP:0010522	Dyslexia
HP:0004313	Decreased circulating antibody level
HP:0000011	Neurogenic bladder
HP:0000641	Dysmetric saccades
HP:0007772	Impaired smooth pursuit
HP:0001583	Rotary nystagmus
HP:0010544	Vertical nystagmus
HP:0012735	Cough
HP:0002075	Dysdiadochokinesis
HP:0007256	Abnormal pyramidal sign
HP:0001257	Spasticity
HP:0002321	Vertigo
HP:0002384	Focal impaired awareness seizure
HP:0011376	Morphological abnormality of the vestibule of the inner ear
HP:0002326	Transient ischemic attack
HP:0005584	Renal cell carcinoma
HP:0003124	Hypercholesterolemia
HP:0003002	Breast carcinoma
HP:0004953	obsolete Dilatation of abdominal aorta
HP:0004944	Dilatation of the cerebral artery
HP:0000100	Nephrotic syndrome
HP:0002783	Recurrent lower respiratory tract infections
HP:0003470	Paralysis
HP:0006597	Diaphragmatic paralysis
HP:0008151	Prolonged prothrombin time
HP:0010628	Facial palsy
HP:0011892	Low levels of vitamin K
HP:0001075	Atrophic scars
HP:0001816	Thin nail
HP:0002216	Premature graying of hair
HP:0003401	Paresthesia
HP:0100134	Abnormality of the axillary hair
HP:0100797	Toenail dysplasia
HP:0010461	Abnormality of the male genitalia
HP:0000044	Hypogonadotropic hypogonadism
HP:0100568	Neoplasm of the endocrine system
HP:0001646	Abnormal aortic valve morphology
HP:0000813	Bicornuate uterus
HP:0004380	Aortic valve calcification
HP:0001650	Aortic valve stenosis
HP:0000073	Ureteral duplication
HP:0100651	Type I diabetes mellitus
HP:0000819	Diabetes mellitus
HP:0000573	Retinal hemorrhage
HP:0005264	Abnormality of the gallbladder
HP:0000475	Broad neck
HP:0000089	Renal hypoplasia
HP:0000921	Missing ribs
HP:0001789	Hydrops fetalis
HP:0002089	Pulmonary hypoplasia
HP:0003422	Vertebral segmentation defect
HP:0002323	Anencephaly
HP:0000341	Narrow forehead
HP:0002869	Flared iliac wings
HP:0003100	Slender long bone
HP:0003275	Narrow pelvis bone
HP:0009891	Underdeveloped supraorbital ridges
HP:0011039	Abnormality of the helix
HP:0008572	External ear malformation
HP:0009738	Abnormality of the antihelix
HP:0011328	Abnormality of fontanelles
HP:0012155	Decreased corneal sensation
HP:0004602	Cervical C2/C3 vertebral fusion
HP:0002997	Abnormality of the ulna
HP:0009777	Absent thumb
HP:0002893	Pituitary adenoma
HP:0040278	Prolactinoma
HP:0001555	Asymmetry of the thorax
HP:0000902	Rib fusion
HP:0002164	Nail dysplasia
HP:0011314	Abnormality of long bone morphology
HP:0002867	Abnormality of the ilium
HP:0000774	Narrow chest
HP:0006482	Abnormality of dental morphology
HP:0004383	Hypoplastic left heart
HP:0002015	Dysphagia
HP:0500093	Food allergy
HP:0001519	Disproportionate tall stature
HP:0003179	Protrusio acetabuli
HP:0007385	Aplasia cutis congenita of scalp
HP:0000716	Depressivity
HP:0012583	Unilateral renal hypoplasia
HP:0000618	Blindness
HP:0001004	Lymphedema
HP:0002652	Skeletal dysplasia
HP:0012520	Perivascular spaces
HP:0005293	Venous insufficiency
HP:0012432	Chronic fatigue
HP:0002578	Gastroparesis
HP:0001658	Myocardial infarction
HP:0001802	Absent toenail
HP:0001821	Broad nail
HP:0000807	Glandular hypospadias
HP:0100582	Nasal polyposis
HP:0002653	Bone pain
HP:0001073	Cigarette-paper scars
HP:0031913	Rhombencephalosynapsis
HP:0002617	Dilatation
HP:0005107	Abnormal sacrum morphology
HP:0002025	Anal stenosis
HP:0009099	Median cleft palate
HP:0003212	Increased circulating IgE level
HP:0001319	Neonatal hypotonia
HP:0002659	Increased susceptibility to fractures
HP:0025246	Trichilemmal cyst
HP:0002107	Pneumothorax
HP:0000107	Renal cyst
HP:0001025	Urticaria
HP:0002204	Pulmonary embolism
HP:0001058	Poor wound healing
HP:0003010	Prolonged bleeding time
HP:0100502	Vitamin B12 deficiency
HP:0100510	Low levels of vitamin C
HP:0030976	Abnormal factor VIII activity
HP:0100789	Torus palatinus
HP:0000108	Renal corticomedullary cysts
HP:0000072	Hydroureter
HP:0000019	Urinary hesitancy
HP:0100771	Hypoperistalsis
HP:0000021	Megacystis
HP:0004388	Microcolon
HP:0005247	Hypoplasia of the abdominal wall musculature
HP:0004794	Malrotation of small bowel
HP:0000045	Abnormality of the scrotum
HP:0002236	Frontal upsweep of hair
HP:0000212	Gingival overgrowth
HP:0001808	Fragile nails
HP:0000225	Gingival bleeding
HP:0006009	Broad phalanx
HP:0001837	Broad toe
HP:0001946	Ketosis
HP:0002490	Increased CSF lactate
HP:0002922	Increased CSF protein
HP:0003128	Lactic acidosis
HP:0003111	Abnormal blood ion concentration
HP:0032234	Increased circulating creatine kinase MM isoform
HP:0003348	Hyperalaninemia
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0000326	Abnormality of the maxilla
HP:0010758	Abnormality of the premaxilla
HP:0005681	Juvenile rheumatoid arthritis
HP:0000514	Slow saccadic eye movements
HP:0002788	Recurrent upper respiratory tract infections
HP:0003396	Syringomyelia
HP:0003011	Abnormality of the musculature
HP:0002098	Respiratory distress
HP:0002018	Nausea
HP:0002014	Diarrhea
HP:0025168	Left ventricular diastolic dysfunction
HP:0001679	Abnormal aortic morphology
HP:0000159	Abnormal lip morphology
HP:0011338	Abnormality of mouth shape
HP:0000478	Abnormality of the eye
HP:0000154	Wide mouth
HP:0001513	Obesity
HP:0002475	Myelomeningocele
HP:0003765	Psoriasiform dermatitis
HP:0010289	Cleft of alveolar ridge of maxilla
HP:0003908	Corner fracture of metaphysis
HP:0002190	Choroid plexus cyst
HP:0004370	Abnormality of temperature regulation
HP:0011611	Interrupted aortic arch
HP:0000737	Irritability
HP:0001344	Absent speech
HP:0002376	Developmental regression
HP:0002140	Ischemic stroke
HP:0001287	Meningitis
HP:0002721	Immunodeficiency
HP:0000041	Chordee
HP:0012854	Midshaft hypospadias
HP:0000808	Penoscrotal hypospadias
HP:0000048	Bifid scrotum
HP:0001047	Atopic dermatitis
HP:0001621	Weak voice
HP:0002372	Normal interictal EEG
HP:0012803	Anisometropia
HP:0011386	Narrow internal auditory canal
HP:0012714	Severe hearing impairment
HP:0006485	Agenesis of incisor
HP:0000787	Nephrolithiasis
HP:0011332	Hemifacial hypoplasia
HP:0001909	Leukemia
HP:0004808	Acute myeloid leukemia
HP:0006495	Aplasia/Hypoplasia of the ulna
HP:0001180	Hand oligodactyly
HP:0002991	Abnormality of fibula morphology
HP:0001849	Foot oligodactyly
HP:0006507	Aplasia/hypoplasia of the humerus
HP:0005613	Aplasia/hypoplasia of the femur
HP:0006492	Aplasia/Hypoplasia of the fibula
HP:0000098	Tall stature
HP:0003311	Hypoplasia of the odontoid process
HP:0005752	Flattened moderately deformed vertebrae
HP:0030039	Fused thoracic vertebrae
HP:0003304	Spondylolysis
HP:0001659	Aortic regurgitation
HP:0002984	Hypoplasia of the radius
HP:0009944	Partial duplication of thumb phalanx
HP:0005819	Short middle phalanx of finger
HP:0002110	Bronchiectasis
HP:0001677	Coronary artery atherosclerosis
HP:0001737	Pancreatic cysts
HP:0005113	Aortic arch aneurysm
HP:0003022	Hypoplasia of the ulna
HP:0002205	Recurrent respiratory infections
HP:0001669	Transposition of the great arteries
HP:0001716	Wolff-Parkinson-White syndrome
HP:0002758	Osteoarthritis
HP:0002037	Inflammation of the large intestine
HP:0009892	Anotia
HP:0011331	Hemifacial atrophy
HP:0009118	Aplasia/Hypoplasia of the mandible
HP:0009940	Asymmetry of the mandible
HP:0000682	Abnormality of dental enamel
HP:0009908	Anterior creases of earlobe
HP:0001541	Ascites
HP:0006687	Aortic tortuosity
HP:0010535	Sleep apnea
HP:0100633	Esophagitis
HP:0002105	Hemoptysis
HP:0002613	Biliary cirrhosis
HP:0004469	Chronic bronchitis
HP:0002720	Decreased circulating IgA level
HP:0002904	Hyperbilirubinemia
HP:0003237	Increased circulating IgG level
HP:0003262	Smooth muscle antibody positivity
HP:0011227	Elevated C-reactive protein level
HP:0001852	Sandal gap
HP:0004381	Supravalvular aortic stenosis
HP:0100700	Abnormal arachnoid mater morphology
HP:0002624	Abnormal venous morphology
HP:0002289	Alopecia universalis
HP:0009588	Vestibular Schwannoma
HP:0001648	Cor pulmonale
HP:0002091	Restrictive ventilatory defect
HP:0002092	Pulmonary arterial hypertension
HP:0002113	Pulmonary infiltrates
HP:0003138	Increased blood urea nitrogen
HP:0003259	Elevated serum creatinine
HP:0005180	Tricuspid regurgitation
HP:0012585	Renal atrophy
HP:0005133	Right ventricular dilatation
HP:0005575	Hemolytic-uremic syndrome
HP:0001697	Abnormal pericardium morphology
HP:0012486	Myelitis
HP:0002385	Paraparesis
HP:0006706	Cystic liver disease
HP:0010880	Increased nuchal translucency
HP:0000457	Depressed nasal ridge
HP:0002263	Exaggerated cupid's bow
HP:0002500	Abnormality of the cerebral white matter
HP:0002835	Aspiration
HP:0000600	Abnormality of the pharynx
HP:0004327	Abnormal vitreous humor morphology
HP:0004378	Abnormality of the anus
HP:0012374	obsolete Abnormal globe morphology
HP:0100768	Choriocarcinoma
HP:0030991	Sclerosing cholangitis
HP:0006510	Chronic pulmonary obstruction
HP:0000710	Hyperorality
HP:0001270	Motor delay
HP:0001548	Overgrowth
HP:0002311	Incoordination
HP:0006288	Advanced eruption of teeth
HP:0006323	Premature loss of primary teeth
HP:0009890	High anterior hairline
HP:0100034	Motor tics
HP:0100035	Phonic tics
HP:0000348	High forehead
HP:0001520	Large for gestational age
HP:0001239	Wrist flexion contracture
HP:0007359	Focal-onset seizure
HP:0000430	Underdeveloped nasal alae
HP:0007400	Irregular hyperpigmentation
HP:0100495	Mastocytosis
HP:0012378	Fatigue
HP:0002046	Heat intolerance
HP:0003270	Abdominal distention
HP:0002180	Neurodegeneration
HP:0003493	Antinuclear antibody positivity
HP:0030057	Autoimmune antibody positivity
HP:0006802	Abnormal anterior horn cell morphology
HP:0000064	Hypoplastic labia minora
HP:0000338	Hypomimic face
HP:0001642	Pulmonic stenosis
HP:0011344	Severe global developmental delay
HP:0200007	Abnormal size of the palpebral fissures
HP:0004464	Postauricular pit
HP:0000130	Abnormality of the uterus
HP:0000137	Abnormality of the ovary
HP:0000142	Abnormal vagina morphology
HP:0000370	Abnormality of the middle ear
HP:0011787	Central hypothyroidism
HP:0000274	Small face
HP:0000446	Narrow nasal bridge
HP:0000622	Blurred vision
HP:0001245	Small thenar eminence
HP:0009601	Aplasia/Hypoplasia of the thumb
HP:0011343	Moderate global developmental delay
HP:0000419	Abnormality of the nasal septum
HP:0000502	Abnormal conjunctiva morphology
HP:0000591	Abnormal sclera morphology
HP:0000615	Abnormal pupil morphology
HP:0001163	Abnormality of the metacarpal bones
HP:0001832	Abnormal metatarsal morphology
HP:0001850	Abnormality of the tarsal bones
HP:0010490	Abnormality of the palmar creases
HP:0010881	Abnormality of the umbilical cord
HP:0009113	Diaphragmatic weakness
HP:0011664	Left ventricular noncompaction cardiomyopathy
HP:0100240	Synostosis of joints
HP:0001838	Rocker bottom foot
HP:0003717	Minimal subcutaneous fat
HP:0001339	Lissencephaly
HP:0001591	Bell-shaped thorax
HP:0002655	Spondyloepiphyseal dysplasia
HP:0002983	Micromelia
HP:0003016	Metaphyseal widening
HP:0009826	Limb undergrowth
HP:0004488	Macrocephaly at birth
HP:0001695	Cardiac arrest
HP:0001712	Left ventricular hypertrophy
HP:0100775	Dural ectasia
HP:0000846	Adrenal insufficiency
HP:0002925	Increased thyroid-stimulating hormone level
HP:0100646	Thyroiditis
HP:0000836	Hyperthyroidism
HP:0004414	Abnormality of the pulmonary artery
HP:0000465	Webbed neck
HP:0000723	Restrictive behavior
HP:0002253	Colonic diverticula
HP:0001310	Dysmetria
HP:0000093	Proteinuria
HP:0002907	Microscopic hematuria
HP:0003073	Hypoalbuminemia
HP:0004315	Decreased circulating IgG level
HP:0000795	Abnormality of the urethra
HP:0001015	Prominent superficial veins
HP:0004691	2-3 toe syndactyly
HP:0005328	Progeroid facial appearance
HP:0005487	Prominent metopic ridge
HP:0007552	Abnormal subcutaneous fat tissue distribution
HP:0100678	Premature skin wrinkling
HP:0031137	Storage in hepatocytes
HP:0002521	Hypsarrhythmia
HP:0005390	Recurrent opportunistic infections
HP:0002716	Lymphadenopathy
HP:0005379	obsolete Severe T lymphocytopenia
HP:0004432	Agammaglobulinemia
HP:0006695	Atrioventricular canal defect
HP:0001733	Pancreatitis
HP:0002350	Cerebellar cyst
HP:0012110	Hypoplasia of the pons
HP:0001948	Alkalosis
HP:0003113	Hypochloremia
HP:0003155	Elevated alkaline phosphatase
HP:0003542	Increased serum pyruvate
HP:0000421	Epistaxis
HP:0200136	Oral-pharyngeal dysphagia
HP:0000805	Enuresis
HP:0005616	Accelerated skeletal maturation
HP:0002459	obsolete Dysautonomia
HP:0007302	Bipolar affective disorder
HP:0100602	Preeclampsia
HP:0100508	Abnormality of vitamin metabolism
HP:0001140	Limbal dermoid
HP:0000143	Rectovaginal fistula
HP:0001746	Asplenia
HP:0012715	Profound hearing impairment
HP:0001748	Polysplenia
HP:0003072	Hypercalcemia
HP:0002905	Hyperphosphatemia
HP:0002901	Hypocalcemia
HP:0001367	Abnormal joint morphology
HP:0010562	Keloids
HP:0004430	Severe combined immunodeficiency
HP:0000003	Multicystic kidney dysplasia
HP:0010980	Hyperlipoproteinemia
HP:0002155	Hypertriglyceridemia
HP:0000520	Proptosis
HP:0000180	Lobulated tongue
HP:0005486	Small fontanelle
HP:0000891	Cervical ribs
HP:0002557	Hypoplastic nipples
HP:0009112	Aplasia of the left hemidiaphragm
HP:0001719	Double outlet right ventricle
HP:0001682	Subvalvular aortic stenosis
HP:0001667	Right ventricular hypertrophy
HP:0002101	Abnormal lung lobation
HP:0002202	Pleural effusion
HP:0002566	Intestinal malrotation
HP:0004510	Pancreatic islet-cell hyperplasia
HP:0001747	Accessory spleen
HP:0002181	Cerebral edema
HP:0000967	Petechiae
HP:0009702	Carpal synostosis
HP:0000927	Abnormality of skeletal maturation
HP:0004348	Abnormality of bone mineral density
HP:0003019	Abnormality of the wrist
HP:0003063	Abnormality of the humerus
HP:0001059	Pterygium
HP:0001528	Hemihypertrophy
HP:0011228	Horizontal eyebrow
HP:0000766	Abnormality of the sternum
HP:0001254	Lethargy
HP:0002360	Sleep disturbance
HP:0001063	Acrocyanosis
HP:0001769	Broad foot
HP:0010280	Stomatitis
HP:0001288	Gait disturbance
HP:0008330	Reduced von Willebrand factor activity
HP:0001954	Recurrent fever
HP:0004311	Abnormal macrophage morphology
HP:0012539	Non-Hodgkin lymphoma
HP:0002074	Increased neuronal autofluorescent lipopigment
HP:0002973	Abnormality of the forearm
HP:0003203	Impaired oxidative burst
HP:0003027	Mesomelia
HP:0002754	Osteomyelitis
HP:0004431	Complement deficiency
HP:0001258	Spastic paraplegia
HP:0012811	Wide nasal ridge
HP:0011832	Narrow nasal tip
HP:0000288	Abnormality of the philtrum
HP:0002357	Dysphasia
HP:0000871	Panhypopituitarism
HP:0000233	Thin vermilion border
HP:0003281	Increased serum ferritin
HP:0010752	Cleft mandible
HP:0000437	Depressed nasal tip
HP:0000453	Choanal atresia
HP:0000863	Central diabetes insipidus
HP:0000058	Abnormality of the labia
HP:0007418	Alopecia totalis
HP:0100765	Abnormality of the tonsils
HP:0100747	Macrodactyly of toe
HP:0002109	obsolete Abnormality of the bronchi
HP:0011950	Bronchiolitis
HP:0002850	Decreased circulating total IgM
HP:0001395	Hepatic fibrosis
HP:0010701	Abnormal immunoglobulin level
HP:0009928	Thick nasal alae
HP:0010807	Open bite
HP:0002126	Polymicrogyria
HP:0002900	Hypokalemia
HP:0000155	Oral ulcer
HP:0000135	Hypogonadism
HP:0100783	Breast aplasia
HP:0000336	Prominent supraorbital ridges
HP:0010557	Overlapping fingers
HP:0005100	Premature birth following premature rupture of fetal membranes
HP:0002594	Pancreatic hypoplasia
HP:0010109	Short hallux
HP:0002334	Abnormality of the cerebellar vermis
HP:0003326	Myalgia
HP:0001645	Sudden cardiac death
HP:0001612	Weak cry
HP:0001618	Dysphonia
HP:0001336	Myoclonus
HP:0001283	Bulbar palsy
HP:0002080	Intention tremor
HP:0002174	Postural tremor
HP:0002064	Spastic gait
HP:0009800	Maternal diabetes
HP:0001662	Bradycardia
HP:0006595	Scapulohumeral synostosis
HP:0005815	Supernumerary ribs
HP:0000307	Pointed chin
HP:0012371	Hyperplasia of midface
HP:0002643	Neonatal respiratory distress
HP:0002093	Respiratory insufficiency
HP:0010310	Chylothorax
HP:0006376	Limited elbow flexion
HP:0006467	Limited shoulder movement
HP:0010505	Limitation of movement at ankles
HP:0010501	Limitation of knee mobility
HP:0009896	Abnormality of the antitragus
HP:0004404	Abnormal nipple morphology
HP:0011957	Abnormal pectoral muscle morphology
HP:0000777	Abnormality of the thymus
HP:0000418	Narrow nasal ridge
HP:0001572	Macrodontia
HP:0002967	Cubitus valgus
HP:0000988	Skin rash
HP:0009733	Glioma
HP:0012452	Restless legs
HP:0100031	Neoplasm of the thyroid gland
HP:0030127	Endometriosis
HP:0000123	Nephritis
HP:0001974	Leukocytosis
HP:0010976	B lymphocytopenia
HP:0000010	Recurrent urinary tract infections
HP:0100807	Long fingers
HP:0000653	Sparse eyelashes
HP:0000171	Microglossia
HP:0002575	Tracheoesophageal fistula
HP:0009933	Narrow naris
HP:0000883	Thin ribs
HP:0000121	Nephrocalcinosis
HP:0001349	Facial diplegia
HP:0012037	Pectoralis amyotrophy
HP:0100560	Upper limb asymmetry
HP:0005684	Distal arthrogryposis
HP:0010722	Asymmetry of the ears
HP:0009380	Aplasia of the fingers
HP:0001657	Prolonged QT interval
HP:0002040	Esophageal varix
HP:0000613	Photophobia
HP:0000561	Absent eyelashes
HP:0002223	Absent eyebrow
HP:0002591	Polyphagia
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002419	Molar tooth sign on MRI
HP:0001010	Hypopigmentation of the skin
HP:0005772	Aplasia/Hypoplasia of the tibia
HP:0002211	White forelock
HP:0007126	Proximal amyotrophy
HP:0003798	Nemaline bodies
HP:0006533	Bronchodysplasia
HP:0003391	Gowers sign
HP:0000771	Gynecomastia
HP:0100785	Insomnia
HP:0010529	Echolalia
HP:0000363	Abnormality of earlobe
HP:0002612	Congenital hepatic fibrosis
HP:0006721	Acute lymphoblastic leukemia
HP:0001958	Nonketotic hypoglycemia
HP:0003457	EMG abnormality
HP:0010636	Schizencephaly
HP:0005266	Intestinal polyp
HP:0200063	Colorectal polyposis
HP:0001762	Talipes equinovarus
HP:0000056	Abnormality of the clitoris
HP:0008655	Aplasia/Hypoplasia of the fallopian tube
HP:0002072	Chorea
HP:0008734	Decreased testicular size
HP:0002136	Broad-based gait
HP:0010958	Bilateral renal agenesis
HP:0002510	Spastic tetraplegia
HP:0003234	Decreased plasma carnitine
HP:0000720	Mood swings
HP:0012638	Abnormal nervous system physiology
HP:0002803	Congenital contracture
HP:0000152	Abnormality of head or neck
HP:0004377	Hematological neoplasm
HP:0100006	Neoplasm of the central nervous system
HP:0012759	Neurodevelopmental abnormality
HP:0011805	Abnormal skeletal muscle morphology
HP:0003634	Amyoplasia
HP:0001507	Growth abnormality
HP:0001939	Abnormality of metabolism/homeostasis
HP:0011013	Abnormal circulating carbohydrate concentration
HP:0410008	Abnormality of the peripheral nervous system
HP:0200134	Epileptic encephalopathy
HP:0001881	Abnormal leukocyte morphology
HP:0005549	obsolete Congenital neutropenia
HP:0004439	Craniofacial dysostosis
HP:0012443	Abnormality of brain morphology
HP:0000202	Oral cleft
HP:0011842	Abnormality of skeletal morphology
HP:0003808	Abnormal muscle tone
HP:0001574	Abnormality of the integument
HP:0030056	Uncombable hair
HP:0003549	Abnormality of connective tissue
HP:0030875	Abnormality of pulmonary circulation
HP:0000118	Phenotypic abnormality
HP:0012469	Infantile spasms
HP:0032894	Seizure precipitated by febrile infection
HP:0100661	Trigeminal neuralgia
HP:0012207	Reduced sperm motility
HP:0000798	Oligospermia
HP:0012864	Abnormal sperm morphology
HP:0008232	Elevated circulating follicle stimulating hormone level
HP:0040306	Decreased male libido
HP:0012208	Immotile sperm
HP:0000027	Azoospermia
HP:0000870	Increased circulating prolactin concentration
HP:0008187	Absence of secondary sex characteristics
HP:0010469	Absent testis
HP:0011969	Elevated circulating luteinizing hormone level
HP:0040171	Decreased serum testosterone level
HP:0003251	Male infertility
HP:0009804	Reduced number of teeth
HP:0000548	Cone/cone-rod dystrophy
HP:0000546	Retinal degeneration
HP:0008002	Abnormality of macular pigmentation
HP:0000608	Macular degeneration
HP:0030611	Retinal pigment epithelial loss on macular OCT
HP:0001135	Chorioretinal dystrophy
HP:0030468	Abnormal multifocal electroretinogram
HP:00030532	Visual acuity test abnormality
HP:0007401	Macular atrophy
HP:0030466	Abnormal full-field electroretinogram
HP:007737	Bone spicule pigmentation of the retina
HP:0011342	Mild global developmental delay
HP:0030610	Photoreceptor outer segment loss on macular OCT
HP:0007722	Retinal pigment epithelial atrophy
HP:0030493	Abnormality of foveal pigmentation
HP:0007843	Attenuation of retinal blood vessels
HP:0007754	Macular dystrophy
HP:0011509	Macular hyperpigmentation
HP:0008527	Congenital sensorineural hearing impairment
HP:0200070	Peripheral retinal atrophy
HP:0007793	Granular macular appearance
HP:0007987	Progressive visual field defects
HP:0100817	Renovascular hypertension
HP:0007868	obsolete Age-related macular degeneration
HP:0030527	Very severe constriction of peripheral visual field
HP:0030551	Visual acuity light perception with projection
HP:0011505	Cystoid macular edema
HP:0010442	Polydactyly
HP:0007642	Congenital stationary night blindness
HP:0009073	Progressive proximal muscle weakness
HP:0003741	Congenital muscular dystrophy
HP:0100299	Muscle fiber inclusion bodies
HP:0003540	Impaired platelet aggregation
HP:0010489	Absent palmar crease
HP:0009824	Upper limb undergrowth
HP:0002395	Lower limb hyperreflexia
HP:0001138	Optic neuropathy
HP:0007103	Hypointensity of cerebral white matter on MRI
HP:0003458	EMG: myopathic abnormalities
HP:0002987	Elbow flexion contracture
HP:0006466	Ankle flexion contracture
HP:0008458	Progressive congenital scoliosis
HP:0000473	Torticollis
HP:0011800	Midface retrusion
HP:0000597	Ophthalmoparesis
HP:0005853	Congenital foot contraction deformities
HP:0007002	Motor axonal neuropathy
HP:0003327	Axial muscle weakness
HP:0003306	Spinal rigidity
HP:0002068	Neuromuscular dysphagia
HP:0001002	obsolete Decreased subcutaneous fat
HP:0002880	obsolete Respiratory difficulties
HP:0006829	Severe muscular hypotonia
HP:0011448	Ankle clonus
HP:0003487	Babinski sign
HP:0002378	Hand tremor
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002579	Gastrointestinal dysmotility
HP:0001041	Facial erythema
HP:0040180	Hyperkeratosis pilaris
HP:0001382	Joint hypermobility
HP:0003722	Neck flexor weakness
HP:0003323	Progressive muscle weakness
HP:0002380	Fasciculations
HP:0012785	Flexion contracture of finger
HP:0007936	Restrictive external ophthalmoplegia
HP:0030319	Weakness of facial musculature
HP:0008936	Muscular hypotonia of the trunk
HP:0030230	Central core regions in muscle fibers
HP:0011471	Gastrostomy tube feeding in infancy
HP:0001290	Generalized hypotonia
HP:0002421	Poor head control
HP:0010301	Spinal dysraphism
HP:0004303	Abnormal muscle fiber morphology
HP:0009046	Difficulty running
HP:0003715	Myofibrillar myopathy
HP:0000467	Neck muscle weakness
HP:0001999	Abnormal facial shape
HP:0002751	Kyphoscoliosis
HP:0030223	Perseveration
HP:0002344	Progressive neurologic deterioration
HP:0002522	Areflexia of lower limbs
HP:0003805	Rimmed vacuoles
HP:0005781	Contractures of the large joints
HP:0040083	Toe walking
HP:0003749	Pelvic girdle muscle weakness
HP:0012444	Brain atrophy
HP:0003738	Exercise-induced myalgia
HP:0003756	Skeletal myopathy
HP:0002492	Morphological abnormality of the corticospinal tract
HP:0100302	Muscle fiber tubuloreticular inclusions
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
HP:0003473	Fatigable weakness
HP:0002077	Migraine with aura
HP:0100559	Lower limb asymmetry
HP:0002079	Hypoplasia of the corpus callosum
HP:0002804	Arthrogryposis multiplex congenita
HP:0011623	Muscular ventricular septal defect
HP:0002191	Progressive spasticity
HP:0003390	Sensory axonal neuropathy
HP:0006986	Upper limb spasticity
HP:0002464	Spastic dysarthria
HP:0001308	Tongue fasciculations
HP:0007010	Poor fine motor coordination
HP:0003737	Mitochondrial myopathy
HP:0008012	obsolete Congenital myopia
HP:0008872	Feeding difficulties in infancy
HP:0005750	Contractures of the joints of the lower limbs
HP:0009067	Progressive spinal muscular atrophy
HP:0001623	Breech presentation
HP:0001374	Congenital hip dislocation
HP:0002359	Frequent falls
HP:0003803	Type 1 muscle fiber predominance
HP:0011410	Caesarian section
HP:0008947	Infantile muscular hypotonia
HP:0100501	Recurrent bronchiolitis
HP:0003789	Minicore myopathy
HP:0000544	External ophthalmoplegia
HP:0001605	Vocal cord paralysis
HP:0003712	Skeletal muscle hypertrophy
HP:0012507	Weakness of orbicularis oculi muscle
HP:0009816	Lower limb undergrowth
HP:0008935	Generalized neonatal hypotonia
HP:0003484	Upper limb muscle weakness
HP:0008331	Elevated creatine kinase after exercise
HP:0001315	Reduced tendon reflexes
HP:0012473	Tongue atrophy
HP:0003273	Hip contracture
HP:0006380	Knee flexion contracture
HP:0003752	Episodic flaccid weakness
HP:0100298	Motheaten muscle fibers
HP:0003693	Distal amyotrophy
HP:0002167	Neurological speech impairment
HP:0003388	Easy fatigability
HP:0001348	Brisk reflexes
HP:0003445	EMG: neuropathic changes
HP:0009063	Progressive distal muscle weakness
HP:0003720	Generalized muscle hypertrophy
HP:0002493	Upper motor neuron dysfunction
HP:0012448	Delayed myelination
HP:0001338	Partial agenesis of the corpus callosum
HP:0006879	Pontocerebellar atrophy
HP:0200101	Decreased/absent ankle reflexes
HP:0009020	Exercise-induced muscle fatigue
HP:0002067	Bradykinesia
HP:0012751	Abnormal basal ganglia MRI signal intensity
HP:0003355	Aminoaciduria
HP:0012450	Chronic constipation
HP:0011834	Moyamoya phenomenon
HP:0001297	Stroke
HP:0200049	Upper limb hypertonia
HP:0008981	Calf muscle hypertrophy
HP:0006785	Limb-girdle muscular dystrophy
HP:0006957	Loss of ability to walk
HP:0030098	Reduced muscle dystrophin expression
HP:0030115	Reduced muscle fiber dysferlin
HP:0002058	Myopathic facies
HP:0007858	Chorioretinal lacunae
HP:0006657	Hypoplasia of first ribs
HP:0007165	Periventricular heterotopia
HP:0009779	3-4 toe syndactyly
HP:0010665	Bilateral coxa valga
HP:0007598	Bilateral single transverse palmar creases
HP:0006101	Finger syndactyly
HP:0010511	Long toe
HP:0002370	Poor coordination
HP:0000480	Retinal coloboma
HP:0001770	Toe syndactyly
HP:0010851	EEG with burst suppression
HP:0002791	Hypoventilation
HP:0040075	Hypopituitarism
HP:0012506	Small pituitary gland
HP:0000538	Pseudopapilledema
HP:0012717	Severe conductive hearing impairment
HP:0001370	Rheumatoid arthritis
HP:0000016	Urinary retention
HP:0012537	Food intolerance
HP:0011297	Abnormal digit morphology
HP:0001273	Abnormal corpus callosum morphology
HP:0030148	Heart murmur
HP:0045018	Partial duplication of eyebrows
HP:0008998	Pectoralis hypoplasia
HP:0001707	Abnormal right ventricle morphology
HP:0001540	Diastasis recti
HP:0100693	Iridodonesis
HP:0002265	Large fleshy ears
HP:0001132	Lens subluxation
HP:0004927	Pulmonary artery dilatation
HP:0005619	Thoracolumbar kyphosis
HP:0008619	Bilateral sensorineural hearing impairment
HP:0001045	Vitiligo
HP:0009124	Abnormal adipose tissue morphology
HP:0002979	Bowing of the legs
HP:0000455	Broad nasal tip
HP:0001007	Hirsutism
HP:0010314	Premature thelarche
HP:0000075	Renal duplication
HP:0000368	Low-set, posteriorly rotated ears
HP:0001052	Nevus flammeus
HP:0200048	Cyanotic episode
HP:0001902	Giant platelets
HP:0030043	Hip subluxation
HP:0002938	Lumbar hyperlordosis
HP:0030084	Clinodactyly
HP:0005560	Imbalanced hemoglobin synthesis
HP:0001539	Omphalocele
HP:0009778	Short thumb
HP:0002277	Horner syndrome
HP:0011701	Multifocal atrial tachycardia
HP:0005274	Prominent nasal tip
HP:0001262	Excessive daytime somnolence
HP:0001285	Spastic tetraparesis
HP:0012171	Stereotypical hand wringing
HP:0002518	Abnormality of the periventricular white matter
HP:0005692	Joint hyperflexibility
HP:0007440	Generalized hyperpigmentation
HP:0001805	Onychogryposis
HP:0011945	Bronchiolitis obliterans organizing pneumonia
HP:0003763	Bruxism
HP:0010500	Hyperextensibility of the knee
HP:0040115	Abnormality of the Eustachian tube
HP:0008751	Laryngeal cleft
HP:0000403	Recurrent otitis media
HP:0001787	Abnormal delivery
HP:0002571	Achalasia
HP:0002615	Hypotension
HP:0003550	Predominantly lower limb lymphedema
HP:0030363	Primary Caesarian section
HP:0001727	Thromboembolic stroke
HP:0100603	Toxemia of pregnancy
HP:0010836	Abnormal circulating copper concentration
HP:0000356	Abnormality of the outer ear
HP:0002197	Generalized-onset seizure
HP:0011436	Abnormal maternal serum screening
HP:0003517	Birth length greater than 97th percentile
HP:0003561	Birth length less than 3rd percentile
HP:0012188	Hyperemesis gravidarum
HP:0010519	Increased fetal movement
HP:0030244	Maternal fever in pregnancy
HP:0008071	Maternal hypertension
HP:0100622	Maternal seizure
HP:0011438	Maternal teratogenic exposure
HP:0001998	Neonatal hypoglycemia
HP:0040187	Neonatal sepsis
HP:0002033	Poor suck
HP:0006579	Prolonged neonatal jaundice
HP:0001724	obsolete Aortic dilatation
HP:0010621	Cutaneous syndactyly of toes
HP:0001880	Eosinophilia
HP:0000162	Glossoptosis
HP:0100578	Lipoatrophy
HP:0002562	Low-set nipples
HP:0012893	Neck muscle hypertrophy
HP:0001027	Soft, doughy skin
HP:0100738	Abnormal eating behavior
HP:0007328	Impaired pain sensation
HP:0002878	Respiratory failure
HP:0001776	Bilateral talipes equinovarus
HP:0001360	Holoprosencephaly
HP:0001973	Autoimmune thrombocytopenia
HP:0100749	Chest pain
HP:0012531	Pain
HP:0007585	Skin fragility with non-scarring blistering
HP:0002108	Spontaneous pneumothorax
HP:0006562	Viral hepatitis
HP:0012647	Abnormal inflammatory response
HP:0012088	Abnormal urinary odor
HP:0011458	Abdominal symptom
HP:0002829	Arthralgia
HP:0010783	Erythema
HP:0010307	Stridor
HP:0001269	Hemiparesis
HP:0006532	Recurrent pneumonia
HP:0002580	Volvulus
HP:0012387	Bronchitis
HP:0001266	Choreoathetosis
HP:0001531	Failure to thrive in infancy
HP:0011470	Nasogastric tube feeding in infancy
HP:0001361	Nystagmus-induced head nodding
HP:0001997	Gout
HP:0000965	Cutis marmorata
HP:0010316	Ebstein anomaly of the tricuspid valve
HP:0010543	Opsoclonus
HP:0007704	Paroxysmal involuntary eye movements
HP:0030364	Secondary Caesarian section
HP:0007738	Uncontrolled eye movements
HP:0030366	Delivery by Odon device
HP:0011411	Forceps delivery
HP:0030369	Induced vaginal delivery
HP:0005268	Spontaneous abortion
HP:0030365	Vaginal birth after Caesarian
HP:0011412	Ventouse delivery
HP:0002572	Episodic vomiting
HP:0030350	Erythematous papule
HP:0001386	Joint swelling
HP:0000147	Polycystic ovaries
HP:0012412	Premature adrenarche
HP:0004411	Deviated nasal septum
HP:0040183	Encopresis
HP:0100507	Reduced blood folate concentration
HP:0007011	Fourth cranial nerve palsy
HP:0000375	Abnormal cochlea morphology
HP:0009911	Abnormal temporal bone morphology
HP:0000081	Duplicated collecting system
HP:0006894	Hypoplastic olfactory lobes
HP:0011380	Morphological abnormality of the semicircular canal
HP:0000110	Renal dysplasia
HP:0030025	Auricular pit
HP:0010044	Short 4th metacarpal
HP:0010047	Short 5th metacarpal
HP:0000201	Pierre-Robin sequence
HP:0100837	Atrophodermia vermiculata
HP:0002673	Coxa valga
HP:0001476	Delayed closure of the anterior fontanelle
HP:0011069	Increased number of teeth
HP:0009879	Simplified gyral pattern
HP:0006315	Single median maxillary incisor
HP:0001194	Abnormalities of placenta or umbilical cord
HP:0100767	Abnormal placenta morphology
HP:0006543	Cardiorespiratory arrest
HP:0003074	Hyperglycemia
HP:0000842	Hyperinsulinemia
HP:0011951	Aspiration pneumonia
HP:0006528	Chronic lung disease
HP:0002383	Encephalitis
HP:0000388	Otitis media
HP:0002530	Axial dystonia
HP:0002780	Bronchomalacia
HP:0008755	Laryngotracheomalacia
HP:0000308	Microretrognathia
HP:0002786	Tracheobronchomalacia
HP:0012389	Appendicular hypotonia
HP:0011323	Cleft of chin
HP:0000417	Slender nose
HP:0001863	Toe clinodactyly
HP:0008386	Aplasia/Hypoplasia of the nails
HP:0006989	Dysplastic corpus callosum
HP:0100954	Open operculum
HP:0004482	Relative macrocephaly
HP:3000033	Abnormal nasopharyngeal adenoid morphology
HP:0009062	Infantile axial hypotonia
HP:0002189	obsolete Excessive daytime sleepiness
HP:0002141	Gait imbalance
HP:0012734	Ketotic hypoglycemia
HP:0005968	Temperature instability
HP:0012538	Gluten intolerance
HP:0000979	Purpura
HP:0001988	Recurrent hypoglycemia
HP:0001488	Bilateral ptosis
HP:0011229	Broad eyebrow
HP:0004440	Coronal craniosynostosis
HP:0004453	Overfolding of the superior helices
HP:0012547	Abnormal involuntary eye movements
HP:0100814	Blue nevus
HP:0010751	Dimple chin
HP:0007087	obsolete Involuntary jerking movements
HP:0012498	Nuchal cord
HP:0002472	Small cerebral cortex
HP:0100307	Cerebellar hemisphere hypoplasia
HP:0002151	Increased serum lactate
HP:0001698	Pericardial effusion
HP:0006903	Congenital peripheral neuropathy
HP:0006895	Lower limb hypertonia
HP:0002744	Bilateral cleft lip and palate
HP:0010664	Fusion of the left and right thalami
HP:0000327	Hypoplasia of the maxilla
HP:0000474	Thickened nuchal skin fold
HP:0000105	Enlarged kidney
HP:0000113	Polycystic kidney dysplasia
HP:0000104	Renal agenesis
HP:0001362	Calvarial skull defect
HP:0008245	Pituitary hypothyroidism
HP:0001552	Barrel-shaped chest
HP:0006297	Hypoplasia of dental enamel
HP:0100023	Recurrent hand flapping
HP:0005518	Increased mean corpuscular volume
HP:0012418	Hypoxemia
HP:0100259	Postaxial polydactyly
HP:0010814	Abnormal position of hair whorl
HP:0003764	Nevus
HP:0000445	Wide nose
HP:0010677	Enuresis nocturna
HP:0001510	Growth delay
HP:0012428	Prominent calcaneus
HP:0012471	Thick vermilion border
HP:0007110	Central hypoventilation
HP:0010614	Fibroma
HP:0001034	Hypermelanotic macule
HP:0011365	Patchy hypopigmentation of hair
HP:0001920	Renal artery stenosis
HP:0002828	Multiple joint contractures
HP:0002144	Tethered cord
HP:0010964	Abnormal circulating long-chain fatty-acid concentration
HP:0010536	Central sleep apnea
HP:0011262	Crimped helix
HP:0040079	Irregular dentition
HP:0011481	Abnormal lacrimal duct morphology
HP:0000220	Velopharyngeal insufficiency
HP:0002153	Hyperkalemia
HP:0002148	Hypophosphatemia
HP:0012621	Persistent cloaca
HP:0000867	Secondary hyperparathyroidism
HP:0003762	Uterus didelphys
HP:0100512	Low levels of vitamin D
HP:0012156	Hemophagocytosis
HP:0008209	Premature ovarian insufficiency
HP:0004349	Reduced bone mineral density
HP:0001924	Sideroblastic anemia
HP:0011703	Sinus tachycardia
HP:0010609	Skin tags
HP:0002725	Systemic lupus erythematosus
HP:0003193	Allergic rhinitis
HP:0006896	Hypnopompic hallucinations
HP:0002524	Cataplexy
HP:0005227	Adenomatous colonic polyposis
HP:0012173	Orthostatic tachycardia
HP:0001271	Polyneuropathy
HP:0009120	Aplasia/Hypoplasia involving the sinuses
HP:0000625	Eyelid coloboma
HP:0009754	Fibrous syngnathia
HP:0012478	Temporomandibular joint ankylosis
HP:0001233	2-3 finger syndactyly
HP:0000811	Abnormal external genitalia
HP:0005120	Abnormal cardiac atrium morphology
HP:0008388	Abnormal toenail morphology
HP:0011467	Absent gallbladder
HP:0010760	Absent toe
HP:0001545	Anteriorly placed anus
HP:0001640	Cardiomegaly
HP:0002990	Fibular aplasia
HP:0004443	Lambdoidal craniosynostosis
HP:0008569	Microtia, second degree
HP:0006277	Pancreatic hyperplasia
HP:0010445	Primum atrial septal defect
HP:0011640	Single coronary artery origin
HP:0011608	Type II truncus arteriosus
HP:0011327	Posterior plagiocephaly
HP:0007655	Eversion of lateral third of lower eyelids
HP:0010747	Medial flaring of the eyebrow
HP:0005957	Breathing dysregulation
HP:0000992	Cutaneous photosensitivity
HP:0011995	Atrial septal dilatation
HP:0000377	Abnormality of the pinna
HP:0011266	Microtia, first degree
HP:0012650	Perisylvian polymicrogyria
HP:0004970	Ascending tubular aorta aneurysm
HP:0008348	Decreased circulating IgG2 level
HP:0012115	Hepatitis
HP:0006979	Sleep-wake cycle disturbance
HP:0008587	Mild neurosensory hearing impairment
HP:0006097	3-4 finger syndactyly
HP:0005263	Gastritis
HP:0200043	Verrucae
HP:0009600	Flexion contracture of thumb
HP:0010818	Generalized tonic seizure
HP:0002599	Head titubation
HP:0002090	Pneumonia
HP:0030423	Splenic cyst
HP:0030187	Titubation
HP:0002375	Hypokinesia
HP:0007166	Paroxysmal dyskinesia
HP:0003077	Hyperlipidemia
HP:0000017	Nocturia
HP:0100555	Asymmetric growth
HP:0011847	Giant cell tumor of bone
HP:0000112	Nephropathy
HP:0000246	Sinusitis
HP:0001012	Multiple lipomas
HP:0000851	Congenital hypothyroidism
HP:0002345	Action tremor
HP:0002677	Small foramen magnum
HP:0011947	Respiratory tract infection
HP:0012151	Hemothorax
HP:0005988	Congenital muscular torticollis
HP:0002329	Drowsiness
HP:0012395	Seasonal allergy
HP:0011679	Tetralogy of Fallot with pulmonary stenosis
HP:0001864	Clinodactyly of the 5th toe
HP:0006934	Congenital nystagmus
HP:0100355	Contractures of the distal interphalangeal joint of the 5th toe
HP:0007894	Hypopigmentation of the fundus
HP:0012377	Hemianopia
HP:0002354	Memory impairment
HP:0000872	Hashimoto thyroiditis
HP:0002519	Hypnagogic hallucinations
HP:0010647	Abnormal elasticity of skin
HP:0002592	Gastric ulcer
HP:0004938	Tortuous cerebral arteries
HP:0004948	Vascular tortuosity
HP:0002516	Increased intracranial pressure
HP:0006460	Increased laxity of ankles
HP:0002317	Unsteady gait
HP:0000182	Movement abnormality of the tongue
HP:0009887	Abnormality of hair pigmentation
HP:0005824	Clinodactyly of the 2nd toe
HP:0002212	Curly hair
HP:0009803	Short phalanx of finger
HP:0000572	Visual loss
HP:0005216	Impaired mastication
HP:0000619	Impaired convergence
HP:0002403	Positive Romberg sign
HP:0008744	Abnormal aryepiglottic fold morphology
HP:0002374	Diminished movement
HP:0008277	Abnormal blood zinc concentration
HP:0012781	Mid-frequency hearing loss
HP:0100758	Gangrene
HP:0003256	Abnormality of the coagulation cascade
HP:0004387	Enterocolitis
HP:0011029	Internal hemorrhage
HP:0011649	Patent ductus arteriosus after premature birth
HP:0012050	Anasarca
HP:0001683	Ectopia cordis
HP:0011682	Perimembranous ventricular septal defect
HP:0010624	Aplastic/hypoplastic toenail
HP:0002705	High, narrow palate
HP:0011340	Incomplete cleft of the upper lip
HP:0011613	Interrupted aortic arch type B
HP:0006167	Prominent proximal interphalangeal joints
HP:0002918	Hypermagnesemia
HP:0011937	Hypoplastic fifth toenail
HP:0001067	Neurofibromas
HP:0011403	Abnormal umbilical cord blood vessels
HP:0003316	Butterfly vertebrae
HP:0002247	Duodenal atresia
HP:0008439	Lumbar hemivertebrae
HP:0011599	Mesocardia
HP:0008467	Thoracic hemivertebrae
HP:0004626	Lumbar scoliosis
HP:0006808	Cerebral hypomyelination
HP:0002926	Abnormality of thyroid physiology
HP:0007970	Congenital ptosis

"},"url":"http://purl.obolibrary.org/obo/hp.owl","version":"0.2.0","name":"HPO","title":"Human Phenotype Ontology","status":"draft","experimental":false,"date":"2023-06-12T15:49:49+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 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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 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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 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hernia"},{"code":"HP:0002007","display":"Frontal bossing"},{"code":"HP:0002980","display":"Femoral bowing"},{"code":"HP:0002982","display":"Tibial bowing"},{"code":"HP:0003021","display":"Metaphyseal cupping"},{"code":"HP:0005011","display":"Mesomelic arm shortening"},{"code":"HP:0008803","display":"obsolete Narrow sacroiliac notch"},{"code":"HP:0009117","display":"Aplasia/Hypoplasia of the maxilla"},{"code":"HP:0011220","display":"Prominent forehead"},{"code":"HP:0012801","display":"Narrow jaw"},{"code":"HP:0000243","display":"Trigonocephaly"},{"code":"HP:0000358","display":"Posteriorly rotated ears"},{"code":"HP:0000411","display":"Protruding ear"},{"code":"HP:0000646","display":"Amblyopia"},{"code":"HP:0002812","display":"Coxa vara"},{"code":"HP:0002970","display":"Genu varum"},{"code":"HP:0012775","display":"Stellate iris"},{"code":"HP:0000278","display":"Retrognathia"},{"code":"HP:0009796","display":"Branchial cyst"},{"code":"HP:0002474","display":"Expressive language 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sequence"},{"code":"HP:0100837","display":"Atrophodermia vermiculata"},{"code":"HP:0002673","display":"Coxa valga"},{"code":"HP:0001476","display":"Delayed closure of the anterior fontanelle"},{"code":"HP:0011069","display":"Increased number of teeth"},{"code":"HP:0009879","display":"Simplified gyral pattern"},{"code":"HP:0006315","display":"Single median maxillary incisor"},{"code":"HP:0001194","display":"Abnormalities of placenta or umbilical cord"},{"code":"HP:0100767","display":"Abnormal placenta morphology"},{"code":"HP:0006543","display":"Cardiorespiratory arrest"},{"code":"HP:0003074","display":"Hyperglycemia"},{"code":"HP:0000842","display":"Hyperinsulinemia"},{"code":"HP:0011951","display":"Aspiration pneumonia"},{"code":"HP:0006528","display":"Chronic lung disease"},{"code":"HP:0002383","display":"Encephalitis"},{"code":"HP:0000388","display":"Otitis media"},{"code":"HP:0002530","display":"Axial dystonia"},{"code":"HP:0002780","display":"Bronchomalacia"},{"code":"HP:0008755","display":"Laryngotracheomalacia"},{"code":"HP:0000308","display":"Microretrognathia"},{"code":"HP:0002786","display":"Tracheobronchomalacia"},{"code":"HP:0012389","display":"Appendicular hypotonia"},{"code":"HP:0011323","display":"Cleft of chin"},{"code":"HP:0000417","display":"Slender nose"},{"code":"HP:0001863","display":"Toe clinodactyly"},{"code":"HP:0008386","display":"Aplasia/Hypoplasia of the nails"},{"code":"HP:0006989","display":"Dysplastic corpus callosum"},{"code":"HP:0100954","display":"Open operculum"},{"code":"HP:0004482","display":"Relative macrocephaly"},{"code":"HP:3000033","display":"Abnormal nasopharyngeal adenoid morphology"},{"code":"HP:0009062","display":"Infantile axial hypotonia"},{"code":"HP:0002189","display":"obsolete Excessive daytime sleepiness"},{"code":"HP:0002141","display":"Gait imbalance"},{"code":"HP:0012734","display":"Ketotic hypoglycemia"},{"code":"HP:0005968","display":"Temperature instability"},{"code":"HP:0012538","display":"Gluten intolerance"},{"code":"HP:0000979","display":"Purpura"},{"code":"HP:0001988","display":"Recurrent hypoglycemia"},{"code":"HP:0001488","display":"Bilateral ptosis"},{"code":"HP:0011229","display":"Broad eyebrow"},{"code":"HP:0004440","display":"Coronal craniosynostosis"},{"code":"HP:0004453","display":"Overfolding of the superior helices"},{"code":"HP:0012547","display":"Abnormal involuntary eye movements"},{"code":"HP:0100814","display":"Blue nevus"},{"code":"HP:0010751","display":"Dimple chin"},{"code":"HP:0007087","display":"obsolete Involuntary jerking movements"},{"code":"HP:0012498","display":"Nuchal cord"},{"code":"HP:0002472","display":"Small cerebral cortex"},{"code":"HP:0100307","display":"Cerebellar hemisphere hypoplasia"},{"code":"HP:0002151","display":"Increased serum lactate"},{"code":"HP:0001698","display":"Pericardial effusion"},{"code":"HP:0006903","display":"Congenital peripheral neuropathy"},{"code":"HP:0006895","display":"Lower limb hypertonia"},{"code":"HP:0002744","display":"Bilateral cleft lip and palate"},{"code":"HP:0010664","display":"Fusion of the left and right thalami"},{"code":"HP:0000327","display":"Hypoplasia of the maxilla"},{"code":"HP:0000474","display":"Thickened nuchal skin fold"},{"code":"HP:0000105","display":"Enlarged kidney"},{"code":"HP:0000113","display":"Polycystic kidney dysplasia"},{"code":"HP:0000104","display":"Renal agenesis"},{"code":"HP:0001362","display":"Calvarial skull defect"},{"code":"HP:0008245","display":"Pituitary hypothyroidism"},{"code":"HP:0001552","display":"Barrel-shaped chest"},{"code":"HP:0006297","display":"Hypoplasia of dental enamel"},{"code":"HP:0100023","display":"Recurrent hand flapping"},{"code":"HP:0005518","display":"Increased mean corpuscular volume"},{"code":"HP:0012418","display":"Hypoxemia"},{"code":"HP:0100259","display":"Postaxial polydactyly"},{"code":"HP:0010814","display":"Abnormal position of hair whorl"},{"code":"HP:0003764","display":"Nevus"},{"code":"HP:0000445","display":"Wide nose"},{"code":"HP:0010677","display":"Enuresis nocturna"},{"code":"HP:0001510","display":"Growth delay"},{"code":"HP:0012428","display":"Prominent calcaneus"},{"code":"HP:0012471","display":"Thick vermilion border"},{"code":"HP:0007110","display":"Central hypoventilation"},{"code":"HP:0010614","display":"Fibroma"},{"code":"HP:0001034","display":"Hypermelanotic macule"},{"code":"HP:0011365","display":"Patchy hypopigmentation of hair"},{"code":"HP:0001920","display":"Renal artery stenosis"},{"code":"HP:0002828","display":"Multiple joint contractures"},{"code":"HP:0002144","display":"Tethered cord"},{"code":"HP:0010964","display":"Abnormal circulating long-chain fatty-acid concentration"},{"code":"HP:0010536","display":"Central sleep apnea"},{"code":"HP:0011262","display":"Crimped helix"},{"code":"HP:0040079","display":"Irregular dentition"},{"code":"HP:0011481","display":"Abnormal lacrimal duct morphology"},{"code":"HP:0000220","display":"Velopharyngeal insufficiency"},{"code":"HP:0002153","display":"Hyperkalemia"},{"code":"HP:0002148","display":"Hypophosphatemia"},{"code":"HP:0012621","display":"Persistent cloaca"},{"code":"HP:0000867","display":"Secondary hyperparathyroidism"},{"code":"HP:0003762","display":"Uterus didelphys"},{"code":"HP:0100512","display":"Low levels of vitamin D"},{"code":"HP:0012156","display":"Hemophagocytosis"},{"code":"HP:0008209","display":"Premature ovarian insufficiency"},{"code":"HP:0004349","display":"Reduced bone mineral density"},{"code":"HP:0001924","display":"Sideroblastic anemia"},{"code":"HP:0011703","display":"Sinus tachycardia"},{"code":"HP:0010609","display":"Skin tags"},{"code":"HP:0002725","display":"Systemic lupus erythematosus"},{"code":"HP:0003193","display":"Allergic rhinitis"},{"code":"HP:0006896","display":"Hypnopompic hallucinations"},{"code":"HP:0002524","display":"Cataplexy"},{"code":"HP:0005227","display":"Adenomatous colonic polyposis"},{"code":"HP:0012173","display":"Orthostatic tachycardia"},{"code":"HP:0001271","display":"Polyneuropathy"},{"code":"HP:0009120","display":"Aplasia/Hypoplasia involving the sinuses"},{"code":"HP:0000625","display":"Eyelid coloboma"},{"code":"HP:0009754","display":"Fibrous syngnathia"},{"code":"HP:0012478","display":"Temporomandibular joint ankylosis"},{"code":"HP:0001233","display":"2-3 finger syndactyly"},{"code":"HP:0000811","display":"Abnormal external genitalia"},{"code":"HP:0005120","display":"Abnormal cardiac atrium morphology"},{"code":"HP:0008388","display":"Abnormal toenail morphology"},{"code":"HP:0011467","display":"Absent gallbladder"},{"code":"HP:0010760","display":"Absent toe"},{"code":"HP:0001545","display":"Anteriorly placed anus"},{"code":"HP:0001640","display":"Cardiomegaly"},{"code":"HP:0002990","display":"Fibular aplasia"},{"code":"HP:0004443","display":"Lambdoidal craniosynostosis"},{"code":"HP:0008569","display":"Microtia, second degree"},{"code":"HP:0006277","display":"Pancreatic hyperplasia"},{"code":"HP:0010445","display":"Primum atrial septal defect"},{"code":"HP:0011640","display":"Single coronary artery origin"},{"code":"HP:0011608","display":"Type II truncus arteriosus"},{"code":"HP:0011327","display":"Posterior plagiocephaly"},{"code":"HP:0007655","display":"Eversion of lateral third of lower eyelids"},{"code":"HP:0010747","display":"Medial flaring of the eyebrow"},{"code":"HP:0005957","display":"Breathing dysregulation"},{"code":"HP:0000992","display":"Cutaneous photosensitivity"},{"code":"HP:0011995","display":"Atrial septal dilatation"},{"code":"HP:0000377","display":"Abnormality of the pinna"},{"code":"HP:0011266","display":"Microtia, first degree"},{"code":"HP:0012650","display":"Perisylvian polymicrogyria"},{"code":"HP:0004970","display":"Ascending tubular aorta aneurysm"},{"code":"HP:0008348","display":"Decreased circulating IgG2 level"},{"code":"HP:0012115","display":"Hepatitis"},{"code":"HP:0006979","display":"Sleep-wake cycle disturbance"},{"code":"HP:0008587","display":"Mild neurosensory hearing impairment"},{"code":"HP:0006097","display":"3-4 finger syndactyly"},{"code":"HP:0005263","display":"Gastritis"},{"code":"HP:0200043","display":"Verrucae"},{"code":"HP:0009600","display":"Flexion contracture of thumb"},{"code":"HP:0010818","display":"Generalized tonic seizure"},{"code":"HP:0002599","display":"Head titubation"},{"code":"HP:0002090","display":"Pneumonia"},{"code":"HP:0030423","display":"Splenic cyst"},{"code":"HP:0030187","display":"Titubation"},{"code":"HP:0002375","display":"Hypokinesia"},{"code":"HP:0007166","display":"Paroxysmal dyskinesia"},{"code":"HP:0003077","display":"Hyperlipidemia"},{"code":"HP:0000017","display":"Nocturia"},{"code":"HP:0100555","display":"Asymmetric growth"},{"code":"HP:0011847","display":"Giant cell tumor of bone"},{"code":"HP:0000112","display":"Nephropathy"},{"code":"HP:0000246","display":"Sinusitis"},{"code":"HP:0001012","display":"Multiple lipomas"},{"code":"HP:0000851","display":"Congenital hypothyroidism"},{"code":"HP:0002345","display":"Action tremor"},{"code":"HP:0002677","display":"Small foramen magnum"},{"code":"HP:0011947","display":"Respiratory tract infection"},{"code":"HP:0012151","display":"Hemothorax"},{"code":"HP:0005988","display":"Congenital muscular torticollis"},{"code":"HP:0002329","display":"Drowsiness"},{"code":"HP:0012395","display":"Seasonal allergy"},{"code":"HP:0011679","display":"Tetralogy of Fallot with pulmonary stenosis"},{"code":"HP:0001864","display":"Clinodactyly of the 5th toe"},{"code":"HP:0006934","display":"Congenital nystagmus"},{"code":"HP:0100355","display":"Contractures of the distal interphalangeal joint of the 5th toe"},{"code":"HP:0007894","display":"Hypopigmentation of the fundus"},{"code":"HP:0012377","display":"Hemianopia"},{"code":"HP:0002354","display":"Memory impairment"},{"code":"HP:0000872","display":"Hashimoto thyroiditis"},{"code":"HP:0002519","display":"Hypnagogic hallucinations"},{"code":"HP:0010647","display":"Abnormal elasticity of skin"},{"code":"HP:0002592","display":"Gastric ulcer"},{"code":"HP:0004938","display":"Tortuous cerebral arteries"},{"code":"HP:0004948","display":"Vascular tortuosity"},{"code":"HP:0002516","display":"Increased intracranial pressure"},{"code":"HP:0006460","display":"Increased laxity of ankles"},{"code":"HP:0002317","display":"Unsteady gait"},{"code":"HP:0000182","display":"Movement abnormality of the tongue"},{"code":"HP:0009887","display":"Abnormality of hair pigmentation"},{"code":"HP:0005824","display":"Clinodactyly of the 2nd toe"},{"code":"HP:0002212","display":"Curly hair"},{"code":"HP:0009803","display":"Short phalanx of finger"},{"code":"HP:0000572","display":"Visual loss"},{"code":"HP:0005216","display":"Impaired mastication"},{"code":"HP:0000619","display":"Impaired convergence"},{"code":"HP:0002403","display":"Positive Romberg sign"},{"code":"HP:0008744","display":"Abnormal aryepiglottic fold morphology"},{"code":"HP:0002374","display":"Diminished movement"},{"code":"HP:0008277","display":"Abnormal blood zinc concentration"},{"code":"HP:0012781","display":"Mid-frequency hearing loss"},{"code":"HP:0100758","display":"Gangrene"},{"code":"HP:0003256","display":"Abnormality of the coagulation cascade"},{"code":"HP:0004387","display":"Enterocolitis"},{"code":"HP:0011029","display":"Internal hemorrhage"},{"code":"HP:0011649","display":"Patent ductus arteriosus after premature birth"},{"code":"HP:0012050","display":"Anasarca"},{"code":"HP:0001683","display":"Ectopia cordis"},{"code":"HP:0011682","display":"Perimembranous ventricular septal defect"},{"code":"HP:0010624","display":"Aplastic/hypoplastic toenail"},{"code":"HP:0002705","display":"High, narrow palate"},{"code":"HP:0011340","display":"Incomplete cleft of the upper lip"},{"code":"HP:0011613","display":"Interrupted aortic arch type B"},{"code":"HP:0006167","display":"Prominent proximal interphalangeal joints"},{"code":"HP:0002918","display":"Hypermagnesemia"},{"code":"HP:0011937","display":"Hypoplastic fifth toenail"},{"code":"HP:0001067","display":"Neurofibromas"},{"code":"HP:0011403","display":"Abnormal umbilical cord blood vessels"},{"code":"HP:0003316","display":"Butterfly vertebrae"},{"code":"HP:0002247","display":"Duodenal atresia"},{"code":"HP:0008439","display":"Lumbar hemivertebrae"},{"code":"HP:0011599","display":"Mesocardia"},{"code":"HP:0008467","display":"Thoracic hemivertebrae"},{"code":"HP:0004626","display":"Lumbar scoliosis"},{"code":"HP:0006808","display":"Cerebral hypomyelination"},{"code":"HP:0002926","display":"Abnormality of thyroid physiology"},{"code":"HP:0007970","display":"Congenital ptosis"}]}},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"mondo","text":{"status":"generated","div":"

This code system http://purl.obolibrary.org/obo/mondo.owl provides a fragment that includes following codes:

Code	Display
MONDO:0005072	neuroblastoma
MONDO:0002749	extracranial neuroblastoma
MONDO:0008542	tetralogy of fallot
MONDO:0016054	cerebral malformation
MONDO:0016033	Cornelia de Lange syndrome

"},"url":"http://purl.obolibrary.org/obo/mondo.owl","version":"0.2.0","name":"Mondo","title":"Mondo Disease Ontology","status":"draft","experimental":false,"date":"2023-06-12T15:49:49+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 Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'","caseSensitive":true,"content":"fragment","count":3,"concept":[{"code":"MONDO:0005072","display":"neuroblastoma"},{"code":"MONDO:0002749","display":"extracranial neuroblastoma"},{"code":"MONDO:0008542","display":"tetralogy of fallot"},{"code":"MONDO:0016054","display":"cerebral malformation"},{"code":"MONDO:0016033","display":"Cornelia de Lange syndrome"}]}},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"datatable-mappings-valueset-1","text":{"status":"generated","div":"

This value set includes codes based on the following rules:

Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code Display
C2348584 Subject Unique Identifier
C0079399 Gender
C168843 Age in Days at Enrollment
C1305855 Body mass index
C0872128 case control
Include these codes as defined in http://loinc.org
Code Display
LP35925-4 Body mass index (BMI)
Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
Code Display
HP:0010772 Anomalous pulmonary venous return
Include these codes as defined in http://purl.obolibrary.org/obo/mondo.owl
Code Display
0017705 congenital pulmonary venous return anomaly
0007130 congenital total pulmonary venous return anomaly

"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/datatable-mappings-valueset-1","version":"0.2.0","name":"ExampleStudyTableMappingsVS1","title":"Harmonized ValueSet for data table","status":"draft","date":"2023-06-12T15:49:49+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":"Public codes mapped from example dataset\n\nThe codes used below were chosen purely for example's sake and are in no way an endorsement or suggestion for terms that should be used in a real data-dictionary.","compose":{"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"}]},{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]},{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]},{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]} Response: 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:373 content-type:application/fhir+json date:Mon, 12 Jun 2023 15:50:41 GMT server:nginx x-request-id:21-133426 {"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "

Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls

Properties

This code system defines the following properties for its concepts

Code	Type	Description
parent	code	Parent codes.
imported	boolean	Indicates if the concept is imported from another code system.
root	boolean	Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecated	boolean	Indicates if this concept is deprecated.

Filters

Code	Description	operator	Value
root		=	True or false.
deprecated		=	True or false.
imported		=	True or false

Concepts

This code system http://purl.obolibrary.org/obo/hp.owl provides a fragment that includes following codes:

Code	Display
HP:0000365	Hearing impairment
HP:0002564	obsolete Malformation of the heart and great vessels
HP:0001028	Hemangioma
HP:0000476	Cystic hygroma
HP:0000568	Microphthalmia
HP:0000518	Cataract
HP:0000612	Iris coloboma
HP:0000567	Chorioretinal coloboma
HP:0000316	Hypertelorism
HP:0000482	Microcornea
HP:0000588	Optic nerve coloboma
HP:0004426	Abnormality of the cheek
HP:0009125	Lipodystrophy
HP:0002023	Anal atresia
HP:0003468	Abnormal vertebral morphology
HP:0000545	Myopia
HP:0000122	Unilateral renal agenesis
HP:0002143	Abnormality of the spinal cord
HP:0003508	Proportionate short stature
HP:0000271	Abnormality of the face
HP:0000637	Long palpebral fissure
HP:0000492	Abnormal eyelid morphology
HP:0000389	Chronic otitis media
HP:0000400	Macrotia
HP:0000405	Conductive hearing impairment
HP:0012712	Mild hearing impairment
HP:0005280	Depressed nasal bridge
HP:0000431	Wide nasal bridge
HP:0000319	Smooth philtrum
HP:0000175	Cleft palate
HP:0001611	Nasal speech
HP:0002099	Asthma
HP:0001397	Hepatic steatosis
HP:0001081	Cholelithiasis
HP:0002650	Scoliosis
HP:0001212	Prominent fingertip pads
HP:0001328	Specific learning disability
HP:0000824	Growth hormone deficiency
HP:0002607	Bowel incontinence
HP:0100731	Transverse facial cleft
HP:0000528	Anophthalmia
HP:0000601	Hypotelorism
HP:0000369	Low-set ears
HP:0001274	Agenesis of corpus callosum
HP:0002084	Encephalocele
HP:0007033	Cerebellar dysplasia
HP:0100336	Bilateral cleft lip
HP:0100337	Bilateral cleft palate
HP:0001511	Intrauterine growth retardation
HP:0011451	Congenital microcephaly
HP:0000324	Facial asymmetry
HP:0000581	Blepharophimosis
HP:0000508	Ptosis
HP:0008551	Microtia
HP:0001631	Atrial septal defect
HP:0000085	Horseshoe kidney
HP:0011927	Short digit
HP:0001156	Brachydactyly
HP:0002066	Gait ataxia
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001562	Oligohydramnios
HP:0001195	Single umbilical artery
HP:0006349	Agenesis of permanent teeth
HP:0000668	Hypodontia
HP:0000677	Oligodontia
HP:0001252	Muscular hypotonia
HP:0003429	CNS hypomyelination
HP:0010864	Intellectual disability, severe
HP:0004325	Decreased body weight
HP:0000666	Horizontal nystagmus
HP:0000218	High palate
HP:0010809	Broad uvula
HP:0000767	Pectus excavatum
HP:0003691	Scapular winging
HP:0002616	Aortic root aneurysm
HP:0001601	Laryngomalacia
HP:0002021	Pyloric stenosis
HP:0001388	Joint laxity
HP:0001187	Hyperextensibility of the finger joints
HP:0000741	Apathy
HP:0000817	Poor eye contact
HP:0000821	Hypothyroidism
HP:0000002	Abnormality of body height
HP:0000079	Abnormality of the urinary system
HP:0000164	Abnormality of the dentition
HP:0000364	Hearing abnormality
HP:0000366	Abnormality of the nose
HP:0000464	Abnormality of the neck
HP:0000707	Abnormality of the nervous system
HP:0000708	Behavioral abnormality
HP:0000769	Abnormality of the breast
HP:0000772	Abnormality of the ribs
HP:0000775	Abnormality of the diaphragm
HP:0000889	Abnormality of the clavicle
HP:0000925	Abnormality of the vertebral column
HP:0001080	Biliary tract abnormality
HP:0001392	Abnormality of the liver
HP:0001438	Abnormal abdomen morphology
HP:0001608	Abnormality of the voice
HP:0001627	Abnormal heart morphology
HP:0001732	Abnormality of the pancreas
HP:0001739	Abnormality of the nasopharynx
HP:0001743	Abnormality of the spleen
HP:0001760	Abnormal foot morphology
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0002031	Abnormal esophagus morphology
HP:0002244	Abnormality of the small intestine
HP:0002246	Abnormality of the duodenum
HP:0002250	Abnormal large intestine morphology
HP:0002644	Abnormality of pelvic girdle bone morphology
HP:0002664	Neoplasm
HP:0002715	Abnormality of the immune system
HP:0002814	Abnormality of the lower limb
HP:0002817	Abnormality of the upper limb
HP:0005483	Abnormal epiglottis morphology
HP:0008777	Abnormal vocal cord morphology
HP:0011844	Abnormal appendicular skeleton morphology
HP:0012732	Anorectal anomaly
HP:0001508	Failure to thrive
HP:0002902	Hyponatremia
HP:0012236	Elevated sweat chloride
HP:0000347	Micrognathia
HP:0000926	Platyspondyly
HP:0001371	Flexion contracture
HP:0001875	Neutropenia
HP:0001888	Lymphopenia
HP:0002857	Genu valgum
HP:0002986	Radial bowing
HP:0003015	Flared metaphysis
HP:0003025	Metaphyseal irregularity
HP:0003097	Short femur
HP:0003300	Ovoid vertebral bodies
HP:0003307	Hyperlordosis
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0005792	Short humerus
HP:0006248	Limited wrist movement
HP:0000944	Abnormality of the metaphysis
HP:0011921	Exudative pleural effusion
HP:0003043	Abnormality of the shoulder
HP:0000290	Abnormality of the forehead
HP:0005288	Abnormality of the nares
HP:0000234	Abnormality of the head
HP:0004323	Abnormality of body weight
HP:0000483	Astigmatism
HP:0011003	High myopia
HP:0000470	Short neck
HP:0030044	Flexion contracture of digit
HP:0100871	Abnormality of the palm
HP:0004334	Dermal atrophy
HP:0001845	Overlapping toe
HP:0000496	Abnormality of eye movement
HP:0001780	Abnormality of toe
HP:0001626	Abnormality of the cardiovascular system
HP:0002086	Abnormality of the respiratory system
HP:0000818	Abnormality of the endocrine system
HP:0012372	Abnormal eye morphology
HP:0009473	Joint contracture of the hand
HP:0003199	Decreased muscle mass
HP:0003202	Skeletal muscle atrophy
HP:0003551	Difficulty climbing stairs
HP:0002355	Difficulty walking
HP:0003546	Exercise intolerance
HP:0003325	Limb-girdle muscle weakness
HP:0003701	Proximal muscle weakness
HP:0003547	Shoulder girdle muscle weakness
HP:0007340	Lower limb muscle weakness
HP:0002168	Scanning speech
HP:0001265	Hyporeflexia
HP:0001284	Areflexia
HP:0003477	Peripheral axonal neuropathy
HP:0000924	Abnormality of the skeletal system
HP:0001291	Abnormal cranial nerve morphology
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0001324	Muscle weakness
HP:0002515	Waddling gait
HP:0100280	Crohn's disease
HP:0002631	obsolete Dilatation of ascending aorta
HP:0100026	Arteriovenous malformation
HP:0002637	Cerebral ischemia
HP:0002619	Varicose veins
HP:0001159	Syndactyly
HP:0002069	Bilateral tonic-clonic seizure
HP:0000977	Soft skin
HP:0010648	Dermal translucency
HP:0000978	Bruising susceptibility
HP:0001956	Truncal obesity
HP:0000189	Narrow palate
HP:0000678	Dental crowding
HP:0002870	Obstructive sleep apnea
HP:0001763	Pes planus
HP:0000782	Abnormality of the scapula
HP:0001600	Abnormality of the larynx
HP:0002088	Abnormal lung morphology
HP:0011407	Proportionate tall stature
HP:0000541	Retinal detachment
HP:0001373	Joint dislocation
HP:0000938	Osteopenia
HP:0002942	Thoracic kyphosis
HP:0001840	Metatarsus adductus
HP:0001844	Abnormality of the hallux
HP:0001765	Hammertoe
HP:0000606	Abnormality of the periorbital region
HP:0002757	Recurrent fractures
HP:0000647	Sclerocornea
HP:0001166	Arachnodactyly
HP:0005490	Postnatal macrocephaly
HP:0011363	Abnormality of hair growth rate
HP:0000276	Long face
HP:0000275	Narrow face
HP:0000337	Broad forehead
HP:0002267	Exaggerated startle response
HP:0002187	Intellectual disability, profound
HP:0000728	Impaired ability to form peer relationships
HP:0000733	Stereotypy
HP:0000739	Anxiety
HP:0000929	Abnormal skull morphology
HP:0001965	Abnormal scalp morphology
HP:0100538	Abnormality of the supraorbital ridges
HP:0000309	Abnormality of the midface
HP:0000277	Abnormality of the mandible
HP:0000765	Abnormality of the thorax
HP:0100008	Schwannoma
HP:0030038	Enchondroma
HP:0100777	Exostoses
HP:0011663	Right ventricular cardiomyopathy
HP:0011675	Arrhythmia
HP:0001962	Palpitations
HP:0001279	Syncope
HP:0004756	Ventricular tachycardia
HP:0000252	Microcephaly
HP:0000303	Mandibular prognathia
HP:0000664	Synophrys
HP:0001609	Hoarse voice
HP:0002558	Supernumerary nipple
HP:0001634	Mitral valve prolapse
HP:0000028	Cryptorchidism
HP:0000973	Cutis laxa
HP:0001518	Small for gestational age
HP:0000527	Long eyelashes
HP:0002808	Kyphosis
HP:0000248	Brachycephaly
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000517	Abnormality of the lens
HP:0000529	Progressive visual loss
HP:0000586	Shallow orbits
HP:0000603	Central scotoma
HP:0000939	Osteoporosis
HP:0001377	Limited elbow extension
HP:0001387	Joint stiffness
HP:0001822	Hallux valgus
HP:0002657	Spondylometaphyseal dysplasia
HP:0003026	Short long bone
HP:0006462	Generalized bone demineralization
HP:0008873	Disproportionate short-limb short stature
HP:0008905	Rhizomelia
HP:0008922	Childhood-onset short-trunk short stature
HP:0200020	Corneal erosion
HP:0001172	Abnormal thumb morphology
HP:0002286	Fair hair
HP:0010719	Abnormality of hair texture
HP:0010720	Abnormal hair pattern
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001663	Ventricular fibrillation
HP:0011712	Right bundle branch block
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000322	Short philtrum
HP:0000463	Anteverted nares
HP:0000494	Downslanted palpebral fissures
HP:0000543	Optic disc pallor
HP:0000699	Diastema
HP:0000773	Short ribs
HP:0000887	Cupped ribs
HP:0000946	Hypoplastic ilia
HP:0000954	Single transverse palmar crease
HP:0001182	Tapered finger
HP:0001537	Umbilical hernia
HP:0002007	Frontal bossing
HP:0002980	Femoral bowing
HP:0002982	Tibial bowing
HP:0003021	Metaphyseal cupping
HP:0005011	Mesomelic arm shortening
HP:0008803	obsolete Narrow sacroiliac notch
HP:0009117	Aplasia/Hypoplasia of the maxilla
HP:0011220	Prominent forehead
HP:0012801	Narrow jaw
HP:0000243	Trigonocephaly
HP:0000358	Posteriorly rotated ears
HP:0000411	Protruding ear
HP:0000646	Amblyopia
HP:0002812	Coxa vara
HP:0002970	Genu varum
HP:0012775	Stellate iris
HP:0000278	Retrognathia
HP:0009796	Branchial cyst
HP:0002474	Expressive language delay
HP:0007018	Attention deficit hyperactivity disorder
HP:0003198	Myopathy
HP:0003324	Generalized muscle weakness
HP:0003552	Muscle stiffness
HP:0003554	Type 2 muscle fiber atrophy
HP:0003557	Increased variability in muscle fiber diameter
HP:0009025	Increased connective tissue
HP:0003635	Loss of subcutaneous adipose tissue in limbs
HP:0002597	Abnormality of the vasculature
HP:0001649	Tachycardia
HP:0001638	Cardiomyopathy
HP:0001654	Abnormal heart valve morphology
HP:0001671	Abnormal cardiac septum morphology
HP:0000103	Polyuria
HP:0000114	Proximal tubulopathy
HP:0001878	Hemolytic anemia
HP:0001931	Hypochromic anemia
HP:0001935	Microcytic anemia
HP:0001959	Polydipsia
HP:0001994	Renal Fanconi syndrome
HP:0002134	Abnormality of the basal ganglia
HP:0002188	Delayed CNS myelination
HP:0002908	Conjugated hyperbilirubinemia
HP:0003774	Stage 5 chronic kidney disease
HP:0010700	obsolete Total cataract
HP:0000193	Bifid uvula
HP:0000219	Thin upper lip vermilion
HP:0000426	Prominent nasal bridge
HP:0000452	Choanal stenosis
HP:0000490	Deeply set eye
HP:0000540	Hypermetropia
HP:0000579	Nasolacrimal duct obstruction
HP:0000684	Delayed eruption of teeth
HP:0000960	Sacral dimple
HP:0000998	Hypertrichosis
HP:0001643	Patent ductus arteriosus
HP:0010813	Abnormal number of hair whorls
HP:0012384	Rhinitis
HP:0012745	Short palpebral fissure
HP:0000359	Abnormality of the inner ear
HP:0000429	Abnormality of the nasal alae
HP:0000436	Abnormality of the nasal tip
HP:0000499	Abnormal eyelash morphology
HP:0000534	Abnormal eyebrow morphology
HP:0000951	Abnormality of the skin
HP:0001000	Abnormality of skin pigmentation
HP:0001597	Abnormality of the nail
HP:0006483	Abnormal number of teeth
HP:0009929	Abnormality of the columella
HP:0011119	Abnormality of the nasal dorsum
HP:0012808	Abnormal nasal base
HP:0100490	Camptodactyly of finger
HP:0000964	Eczema
HP:0004442	Sagittal craniosynostosis
HP:0000414	Bulbous nose
HP:0003180	Flat acetabular roof
HP:0000422	Abnormality of the nasal bridge
HP:0000614	Abnormal nasolacrimal system morphology
HP:0001167	Abnormality of finger
HP:0001595	Abnormal hair morphology
HP:0012373	Abnormal eye physiology
HP:0001655	Patent foramen ovale
HP:0001647	Bicuspid aortic valve
HP:0000574	Thick eyebrow
HP:0001169	Broad palm
HP:0006471	Fixed elbow flexion
HP:0008689	Bilateral cryptorchidism
HP:0011304	Broad thumb
HP:0005110	Atrial fibrillation
HP:0001633	Abnormal mitral valve morphology
HP:0001641	Abnormal pulmonary valve morphology
HP:0001702	Abnormal tricuspid valve morphology
HP:0000012	Urinary urgency
HP:0000020	Urinary incontinence
HP:0000131	Uterine leiomyoma
HP:0000132	Menorrhagia
HP:0000138	Ovarian cyst
HP:0000853	Goiter
HP:0000953	Hyperpigmentation of the skin
HP:0001061	Acne
HP:0002315	Headache
HP:0004324	Increased body weight
HP:0000069	Abnormality of the ureter
HP:0000077	Abnormality of the kidney
HP:0000759	Abnormal peripheral nervous system morphology
HP:0008069	Neoplasm of the skin
HP:0011276	Vascular skin abnormality
HP:0000705	Amelogenesis imperfecta
HP:0001256	Intellectual disability, mild
HP:0000325	Triangular face
HP:0000160	Narrow mouth
HP:0009487	Ulnar deviation of the hand
HP:0001249	Intellectual disability
HP:0008064	Ichthyosis
HP:0000311	Round face
HP:0001653	Mitral regurgitation
HP:0001771	Achilles tendon contracture
HP:0012032	Lipoma
HP:0012368	Flat face
HP:0030053	Stiff skin
HP:0011124	Abnormality of epidermal morphology
HP:0011097	Epileptic spasm
HP:0000407	Sensorineural hearing impairment
HP:0000331	Short chin
HP:0000340	Sloping forehead
HP:0000486	Strabismus
HP:0000713	Agitation
HP:0000802	Impotence
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001321	Cerebellar hypoplasia
HP:0001322	obsolete Brain very small
HP:0002061	Lower limb spasticity
HP:0002529	Neuronal loss in central nervous system
HP:0002540	Inability to walk
HP:0005484	Postnatal microcephaly
HP:0012850	Small intestinal dysmotility
HP:0000504	Abnormality of vision
HP:0002118	Abnormality of the cerebral ventricles
HP:0002363	Abnormality of brainstem morphology
HP:0010651	Abnormal meningeal morphology
HP:0100024	Conspicuously happy disposition
HP:0002538	Abnormality of the cerebral cortex
HP:0000054	Micropenis
HP:0000215	Thick upper lip vermilion
HP:0000293	Full cheeks
HP:0000349	Widow's peak
HP:0000444	Convex nasal ridge
HP:0000506	Telecanthus
HP:0000592	Blue sclerae
HP:0000691	Microdontia
HP:0000698	Conical tooth
HP:0002000	Short columella
HP:0002097	Emphysema
HP:0002209	Sparse scalp hair
HP:0002816	Genu recurvatum
HP:0005116	Arterial tortuosity
HP:0007957	Corneal opacity
HP:0008070	Sparse hair
HP:0009623	Proximal placement of thumb
HP:0010055	Broad hallux
HP:0011318	Bicoronal synostosis
HP:0011968	Feeding difficulties
HP:0200067	Recurrent spontaneous abortion
HP:0011819	Submucous cleft soft palate
HP:0000268	Dolichocephaly
HP:0003302	Spondylolisthesis
HP:0000582	Upslanted palpebral fissure
HP:0000952	Jaundice
HP:0001298	Encephalopathy
HP:0001396	Cholestasis
HP:0002059	Cerebral atrophy
HP:0002171	Gliosis
HP:0002240	Hepatomegaly
HP:0002353	EEG abnormality
HP:0002446	Astrocytosis
HP:0003287	Abnormality of mitochondrial metabolism
HP:0011449	Knee clonus
HP:0012852	Hepatic bridging fibrosis
HP:0100626	Chronic hepatic failure
HP:0000385	Small earlobe
HP:0009748	Large earlobe
HP:0000157	Abnormality of the tongue
HP:0000172	Abnormality of the uvula
HP:0000174	Abnormal palate morphology
HP:0000306	Abnormality of the chin
HP:0004408	Abnormality of the sense of smell
HP:0009912	Abnormality of the tragus
HP:0000537	Epicanthus inversus
HP:0000565	Esotropia
HP:0000752	Hyperactivity
HP:0003186	Inverted nipples
HP:0012503	Abnormality of the pituitary gland
HP:0100710	Impulsivity
HP:0000357	Abnormal location of ears
HP:0000820	Abnormality of the thyroid gland
HP:0000828	Abnormality of the parathyroid gland
HP:0000834	Abnormality of the adrenal glands
HP:0012093	Abnormality of endocrine pancreas physiology
HP:0000269	Prominent occiput
HP:0000535	Sparse and thin eyebrow
HP:0000639	Nystagmus
HP:0000718	Aggressive behavior
HP:0000957	Cafe-au-lait spot
HP:0000256	Macrocephaly
HP:0000750	Delayed speech and language development
HP:0000963	Thin skin
HP:0001260	Dysarthria
HP:0002194	Delayed gross motor development
HP:0003196	Short nose
HP:0001155	Abnormality of the hand
HP:0100022	Abnormality of movement
HP:0010862	Delayed fine motor development
HP:0000343	Long philtrum
HP:0000717	Autism
HP:0001883	Talipes
HP:0002553	Highly arched eyebrow
HP:0007488	Diffuse skin atrophy
HP:0000822	Hypertension
HP:0001278	Orthostatic hypotension
HP:0001944	Dehydration
HP:0001945	Fever
HP:0002019	Constipation
HP:0002020	Gastroesophageal reflux
HP:0002027	Abdominal pain
HP:0002718	Recurrent bacterial infections
HP:0002841	Recurrent fungal infections
HP:0004395	Malnutrition
HP:0009830	Peripheral neuropathy
HP:0000126	Hydronephrosis
HP:0000519	Developmental cataract
HP:0000648	Optic atrophy
HP:0001053	Hypopigmented skin patches
HP:0001087	Developmental glaucoma
HP:0002119	Ventriculomegaly
HP:0002280	Enlarged cisterna magna
HP:0003298	Spina bifida occulta
HP:0004467	Preauricular pit
HP:0008511	Central posterior corneal opacity
HP:0010780	Hyperacusis
HP:0030048	Colpocephaly
HP:0100335	Non-midline cleft lip
HP:0000525	Abnormality iris morphology
HP:0002719	Recurrent infections
HP:0000153	Abnormality of the mouth
HP:0001903	Anemia
HP:0002094	Dyspnea
HP:0002206	Pulmonary fibrosis
HP:0002789	Tachypnea
HP:0002793	Abnormal pattern of respiration
HP:0003565	Elevated erythrocyte sedimentation rate
HP:0006517	Intraalveolar phospholipid accumulation
HP:0006530	Interstitial pulmonary abnormality
HP:0100759	Clubbing of fingers
HP:0002103	Abnormal pleura morphology
HP:0001596	Alopecia
HP:0001882	Leukopenia
HP:0002013	Vomiting
HP:0002028	Chronic diarrhea
HP:0002573	Hematochezia
HP:0002960	Autoimmunity
HP:0005387	Combined immunodeficiency
HP:0011109	Chronic sinusitis
HP:0004429	Recurrent viral infections
HP:0000280	Coarse facial features
HP:0000294	Low anterior hairline
HP:0000577	Exotropia
HP:0001873	Thrombocytopenia
HP:0002011	Morphological central nervous system abnormality
HP:0006610	Wide intermamillary distance
HP:0011231	Prominent eyelashes
HP:0012718	Morphological abnormality of the gastrointestinal tract
HP:0002024	Malabsorption
HP:0001394	Cirrhosis
HP:0001414	Microvesicular hepatic steatosis
HP:0001403	Macrovesicular hepatic steatosis
HP:0001410	Decreased liver function
HP:0001409	Portal hypertension
HP:0001744	Splenomegaly
HP:0003394	Muscle spasm
HP:0003750	Increased muscle fatiguability
HP:0002123	Generalized myoclonic seizure
HP:0002219	Facial hypertrichosis
HP:0000831	Insulin-resistant diabetes mellitus
HP:0001891	Iron deficiency anemia
HP:0001264	Spastic diplegia
HP:0002313	Spastic paraparesis
HP:0001347	Hyperreflexia
HP:0002460	Distal muscle weakness
HP:0000763	Sensory neuropathy
HP:0001268	Mental deterioration
HP:0002169	Clonus
HP:0001332	Dystonia
HP:0100716	Self-injurious behavior
HP:0000602	Ophthalmoplegia
HP:0001251	Ataxia
HP:0000776	Congenital diaphragmatic hernia
HP:0000410	Mixed hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0004437	Cranial hyperostosis
HP:0011001	Increased bone mineral density
HP:0000956	Acanthosis nigricans
HP:0000958	Dry skin
HP:0000580	Pigmentary retinopathy
HP:0000649	Abnormality of visual evoked potentials
HP:0000657	Oculomotor apraxia
HP:0000479	Abnormal retinal morphology
HP:0001317	Abnormal cerebellum morphology
HP:0001533	Slender build
HP:0001629	Ventricular septal defect
HP:0000703	Dentinogenesis imperfecta
HP:0000914	Shield chest
HP:0001500	Broad finger
HP:0003086	Acromesomelia
HP:0003416	Spinal canal stenosis
HP:0002815	Abnormality of the knee
HP:0002992	Abnormality of tibia morphology
HP:0001639	Hypertrophic cardiomyopathy
HP:0003236	Elevated serum creatine kinase
HP:0001369	Arthritis
HP:0003560	Muscular dystrophy
HP:0003974	Absent radius
HP:0002818	Abnormality of the radius
HP:0001561	Polyhydramnios
HP:0002299	Brittle hair
HP:0002208	Coarse hair
HP:0002213	Fine hair
HP:0000522	Alacrima
HP:0100704	Cerebral visual impairment
HP:0012713	Moderate hearing impairment
HP:0002307	Drooling
HP:0002714	Downturned corners of mouth
HP:0000191	Accessory oral frenulum
HP:0000158	Macroglossia
HP:0012020	Right aortic arch
HP:0002104	Apnea
HP:0000598	Abnormality of the ear
HP:0007874	Almond-shaped palpebral fissure
HP:0010804	Tented upper lip vermilion
HP:0000885	Broad ribs
HP:0000768	Pectus carinatum
HP:0001680	Coarctation of aorta
HP:0000687	Widely spaced teeth
HP:0000047	Hypospadias
HP:0001943	Hypoglycemia
HP:0012369	Abnormality of malar bones
HP:0009900	Unilateral deafness
HP:0000023	Inguinal hernia
HP:0000074	Ureteropelvic junction obstruction
HP:0001800	Hypoplastic toenails
HP:0001804	Hypoplastic fingernail
HP:0002949	Fused cervical vertebrae
HP:0008050	Abnormality of the palpebral fissures
HP:0008577	Underfolded helix
HP:0008589	Hypoplastic helices
HP:0010863	Receptive language delay
HP:0002282	Gray matter heterotopia
HP:0002085	Occipital encephalocele
HP:0001057	Aplasia cutis congenita
HP:0000211	Trismus
HP:0008422	Vertebral wedging
HP:0003170	Abnormality of the acetabulum
HP:0003272	Abnormality of the hip bone
HP:0003028	Abnormality of the ankles
HP:0003301	Irregular vertebral endplates
HP:0010508	Metatarsus valgus
HP:0009811	Abnormality of the elbow
HP:0000736	Short attention span
HP:0002912	Methylmalonic acidemia
HP:0001941	Acidosis
HP:0001992	Organic aciduria
HP:0009027	Foot dorsiflexor weakness
HP:0002063	Rigidity
HP:0000384	Preauricular skin tag
HP:0200046	Cat cry
HP:0001357	Plagiocephaly
HP:0000670	Carious teeth
HP:0011090	Fused teeth
HP:0012810	Wide nasal base
HP:0010296	Ankyloglossia
HP:0001636	Tetralogy of Fallot
HP:0001305	Dandy-Walker malformation
HP:0000238	Hydrocephalus
HP:0005469	Flat occiput
HP:0000270	Delayed cranial suture closure
HP:0000239	Large fontanelles
HP:0010537	Wide cranial sutures
HP:0002217	Slow-growing hair
HP:0000587	Abnormality of the optic nerve
HP:0005989	Redundant neck skin
HP:0010775	Vascular ring
HP:0002779	Tracheomalacia
HP:0002827	Hip dislocation
HP:0001302	Pachygyria
HP:0007362	Aplasia/Hypoplasia of the brainstem
HP:0001558	Decreased fetal movement
HP:0010878	Fetal cystic hygroma
HP:0011398	Central hypotonia
HP:0002071	Abnormality of extrapyramidal motor function
HP:0000826	Precocious puberty
HP:0000014	Abnormality of the bladder
HP:0005037	Proximal radio-ulnar synostosis
HP:0100543	Cognitive impairment
HP:0000481	Abnormal cornea morphology
HP:0000076	Vesicoureteral reflux
HP:0000297	Facial hypotonia
HP:0000391	Thickened helices
HP:0001162	Postaxial hand polydactyly
HP:0001385	Hip dysplasia
HP:0002342	Intellectual disability, moderate
HP:0003191	Cleft ala nasi
HP:0009765	Low hanging columella
HP:0010297	Bifid tongue
HP:0011330	Metopic synostosis
HP:0012804	Corneal ulceration
HP:0010485	Hyperextensibility at elbow
HP:0000609	Optic nerve hypoplasia
HP:0001176	Large hands
HP:0004233	Advanced ossification of carpal bones
HP:0100842	Septo-optic dysplasia
HP:0002034	Abnormality of the rectum
HP:0002283	Global brain atrophy
HP:0003115	Abnormal EKG
HP:0002577	Abnormal stomach morphology
HP:0002539	Cortical dysplasia
HP:0006818	4-layered lissencephaly
HP:0000593	Abnormal anterior chamber morphology
HP:0000179	Thick lower lip vermilion
HP:0002002	Deep philtrum
HP:0009931	Enlarged naris
HP:0002948	Vertebral fusion
HP:0002937	Hemivertebrae
HP:0002308	Arnold-Chiari malformation
HP:0011320	Unilambdoid synostosis
HP:0002781	Upper airway obstruction
HP:0001363	Craniosynostosis
HP:0000204	Cleft upper lip
HP:0001738	Exocrine pancreatic insufficiency
HP:0002823	Abnormality of femur morphology
HP:0000823	Delayed puberty
HP:0100279	Ulcerative colitis
HP:0003834	Shoulder dislocation
HP:0001065	Striae distensae
HP:0000448	Prominent nose
HP:0000554	Uveitis
HP:0001006	obsolete Hypotrichosis
HP:0000501	Glaucoma
HP:0000262	Turricephaly
HP:0000729	Autistic behavior
HP:0010800	Absent cupid's bow
HP:0010808	Protruding tongue
HP:0009927	Aplasia of the nose
HP:0100539	Periorbital edema
HP:0000629	Periorbital fullness
HP:0000178	Abnormality of lower lip
HP:0000168	Abnormality of the gingiva
HP:0001022	Albinism
HP:0000177	Abnormality of upper lip
HP:0001337	Tremor
HP:0002135	Basal ganglia calcification
HP:0002352	Leukoencephalopathy
HP:0002514	Cerebral calcification
HP:0010576	Intracranial cystic lesion
HP:0001622	Premature birth
HP:0002415	Leukodystrophy
HP:0001320	Cerebellar vermis hypoplasia
HP:0001773	Short foot
HP:0002750	Delayed skeletal maturation
HP:0004415	Pulmonary artery stenosis
HP:0012741	Unilateral cryptorchidism
HP:0000036	Abnormality of the penis
HP:0002408	Cerebral arteriovenous malformation
HP:0007457	Prominent veins on trunk
HP:0000378	Cupped ear
HP:0000396	Overfolded helix
HP:0000035	Abnormal testis morphology
HP:0009895	Abnormality of the crus of the helix
HP:0000034	Hydrocele testis
HP:0000722	Obsessive-compulsive behavior
HP:0000845	Growth hormone excess
HP:0100829	Galactorrhea
HP:0001578	Increased circulating cortisol level
HP:0000786	Primary amenorrhea
HP:0001701	Pericarditis
HP:0002076	Migraine
HP:0004755	Supraventricular tachycardia
HP:0010522	Dyslexia
HP:0004313	Decreased circulating antibody level
HP:0000011	Neurogenic bladder
HP:0000641	Dysmetric saccades
HP:0007772	Impaired smooth pursuit
HP:0001583	Rotary nystagmus
HP:0010544	Vertical nystagmus
HP:0012735	Cough
HP:0002075	Dysdiadochokinesis
HP:0007256	Abnormal pyramidal sign
HP:0001257	Spasticity
HP:0002321	Vertigo
HP:0002384	Focal impaired awareness seizure
HP:0011376	Morphological abnormality of the vestibule of the inner ear
HP:0002326	Transient ischemic attack
HP:0005584	Renal cell carcinoma
HP:0003124	Hypercholesterolemia
HP:0003002	Breast carcinoma
HP:0004953	obsolete Dilatation of abdominal aorta
HP:0004944	Dilatation of the cerebral artery
HP:0000100	Nephrotic syndrome
HP:0002783	Recurrent lower respiratory tract infections
HP:0003470	Paralysis
HP:0006597	Diaphragmatic paralysis
HP:0008151	Prolonged prothrombin time
HP:0010628	Facial palsy
HP:0011892	Low levels of vitamin K
HP:0001075	Atrophic scars
HP:0001816	Thin nail
HP:0002216	Premature graying of hair
HP:0003401	Paresthesia
HP:0100134	Abnormality of the axillary hair
HP:0100797	Toenail dysplasia
HP:0010461	Abnormality of the male genitalia
HP:0000044	Hypogonadotropic hypogonadism
HP:0100568	Neoplasm of the endocrine system
HP:0001646	Abnormal aortic valve morphology
HP:0000813	Bicornuate uterus
HP:0004380	Aortic valve calcification
HP:0001650	Aortic valve stenosis
HP:0000073	Ureteral duplication
HP:0100651	Type I diabetes mellitus
HP:0000819	Diabetes mellitus
HP:0000573	Retinal hemorrhage
HP:0005264	Abnormality of the gallbladder
HP:0000475	Broad neck
HP:0000089	Renal hypoplasia
HP:0000921	Missing ribs
HP:0001789	Hydrops fetalis
HP:0002089	Pulmonary hypoplasia
HP:0003422	Vertebral segmentation defect
HP:0002323	Anencephaly
HP:0000341	Narrow forehead
HP:0002869	Flared iliac wings
HP:0003100	Slender long bone
HP:0003275	Narrow pelvis bone
HP:0009891	Underdeveloped supraorbital ridges
HP:0011039	Abnormality of the helix
HP:0008572	External ear malformation
HP:0009738	Abnormality of the antihelix
HP:0011328	Abnormality of fontanelles
HP:0012155	Decreased corneal sensation
HP:0004602	Cervical C2/C3 vertebral fusion
HP:0002997	Abnormality of the ulna
HP:0009777	Absent thumb
HP:0002893	Pituitary adenoma
HP:0040278	Prolactinoma
HP:0001555	Asymmetry of the thorax
HP:0000902	Rib fusion
HP:0002164	Nail dysplasia
HP:0011314	Abnormality of long bone morphology
HP:0002867	Abnormality of the ilium
HP:0000774	Narrow chest
HP:0006482	Abnormality of dental morphology
HP:0004383	Hypoplastic left heart
HP:0002015	Dysphagia
HP:0500093	Food allergy
HP:0001519	Disproportionate tall stature
HP:0003179	Protrusio acetabuli
HP:0007385	Aplasia cutis congenita of scalp
HP:0000716	Depressivity
HP:0012583	Unilateral renal hypoplasia
HP:0000618	Blindness
HP:0001004	Lymphedema
HP:0002652	Skeletal dysplasia
HP:0012520	Perivascular spaces
HP:0005293	Venous insufficiency
HP:0012432	Chronic fatigue
HP:0002578	Gastroparesis
HP:0001658	Myocardial infarction
HP:0001802	Absent toenail
HP:0001821	Broad nail
HP:0000807	Glandular hypospadias
HP:0100582	Nasal polyposis
HP:0002653	Bone pain
HP:0001073	Cigarette-paper scars
HP:0031913	Rhombencephalosynapsis
HP:0002617	Dilatation
HP:0005107	Abnormal sacrum morphology
HP:0002025	Anal stenosis
HP:0009099	Median cleft palate
HP:0003212	Increased circulating IgE level
HP:0001319	Neonatal hypotonia
HP:0002659	Increased susceptibility to fractures
HP:0025246	Trichilemmal cyst
HP:0002107	Pneumothorax
HP:0000107	Renal cyst
HP:0001025	Urticaria
HP:0002204	Pulmonary embolism
HP:0001058	Poor wound healing
HP:0003010	Prolonged bleeding time
HP:0100502	Vitamin B12 deficiency
HP:0100510	Low levels of vitamin C
HP:0030976	Abnormal factor VIII activity
HP:0100789	Torus palatinus
HP:0000108	Renal corticomedullary cysts
HP:0000072	Hydroureter
HP:0000019	Urinary hesitancy
HP:0100771	Hypoperistalsis
HP:0000021	Megacystis
HP:0004388	Microcolon
HP:0005247	Hypoplasia of the abdominal wall musculature
HP:0004794	Malrotation of small bowel
HP:0000045	Abnormality of the scrotum
HP:0002236	Frontal upsweep of hair
HP:0000212	Gingival overgrowth
HP:0001808	Fragile nails
HP:0000225	Gingival bleeding
HP:0006009	Broad phalanx
HP:0001837	Broad toe
HP:0001946	Ketosis
HP:0002490	Increased CSF lactate
HP:0002922	Increased CSF protein
HP:0003128	Lactic acidosis
HP:0003111	Abnormal blood ion concentration
HP:0032234	Increased circulating creatine kinase MM isoform
HP:0003348	Hyperalaninemia
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0000326	Abnormality of the maxilla
HP:0010758	Abnormality of the premaxilla
HP:0005681	Juvenile rheumatoid arthritis
HP:0000514	Slow saccadic eye movements
HP:0002788	Recurrent upper respiratory tract infections
HP:0003396	Syringomyelia
HP:0003011	Abnormality of the musculature
HP:0002098	Respiratory distress
HP:0002018	Nausea
HP:0002014	Diarrhea
HP:0025168	Left ventricular diastolic dysfunction
HP:0001679	Abnormal aortic morphology
HP:0000159	Abnormal lip morphology
HP:0011338	Abnormality of mouth shape
HP:0000478	Abnormality of the eye
HP:0000154	Wide mouth
HP:0001513	Obesity
HP:0002475	Myelomeningocele
HP:0003765	Psoriasiform dermatitis
HP:0010289	Cleft of alveolar ridge of maxilla
HP:0003908	Corner fracture of metaphysis
HP:0002190	Choroid plexus cyst
HP:0004370	Abnormality of temperature regulation
HP:0011611	Interrupted aortic arch
HP:0000737	Irritability
HP:0001344	Absent speech
HP:0002376	Developmental regression
HP:0002140	Ischemic stroke
HP:0001287	Meningitis
HP:0002721	Immunodeficiency
HP:0000041	Chordee
HP:0012854	Midshaft hypospadias
HP:0000808	Penoscrotal hypospadias
HP:0000048	Bifid scrotum
HP:0001047	Atopic dermatitis
HP:0001621	Weak voice
HP:0002372	Normal interictal EEG
HP:0012803	Anisometropia
HP:0011386	Narrow internal auditory canal
HP:0012714	Severe hearing impairment
HP:0006485	Agenesis of incisor
HP:0000787	Nephrolithiasis
HP:0011332	Hemifacial hypoplasia
HP:0001909	Leukemia
HP:0004808	Acute myeloid leukemia
HP:0006495	Aplasia/Hypoplasia of the ulna
HP:0001180	Hand oligodactyly
HP:0002991	Abnormality of fibula morphology
HP:0001849	Foot oligodactyly
HP:0006507	Aplasia/hypoplasia of the humerus
HP:0005613	Aplasia/hypoplasia of the femur
HP:0006492	Aplasia/Hypoplasia of the fibula
HP:0000098	Tall stature
HP:0003311	Hypoplasia of the odontoid process
HP:0005752	Flattened moderately deformed vertebrae
HP:0030039	Fused thoracic vertebrae
HP:0003304	Spondylolysis
HP:0001659	Aortic regurgitation
HP:0002984	Hypoplasia of the radius
HP:0009944	Partial duplication of thumb phalanx
HP:0005819	Short middle phalanx of finger
HP:0002110	Bronchiectasis
HP:0001677	Coronary artery atherosclerosis
HP:0001737	Pancreatic cysts
HP:0005113	Aortic arch aneurysm
HP:0003022	Hypoplasia of the ulna
HP:0002205	Recurrent respiratory infections
HP:0001669	Transposition of the great arteries
HP:0001716	Wolff-Parkinson-White syndrome
HP:0002758	Osteoarthritis
HP:0002037	Inflammation of the large intestine
HP:0009892	Anotia
HP:0011331	Hemifacial atrophy
HP:0009118	Aplasia/Hypoplasia of the mandible
HP:0009940	Asymmetry of the mandible
HP:0000682	Abnormality of dental enamel
HP:0009908	Anterior creases of earlobe
HP:0001541	Ascites
HP:0006687	Aortic tortuosity
HP:0010535	Sleep apnea
HP:0100633	Esophagitis
HP:0002105	Hemoptysis
HP:0002613	Biliary cirrhosis
HP:0004469	Chronic bronchitis
HP:0002720	Decreased circulating IgA level
HP:0002904	Hyperbilirubinemia
HP:0003237	Increased circulating IgG level
HP:0003262	Smooth muscle antibody positivity
HP:0011227	Elevated C-reactive protein level
HP:0001852	Sandal gap
HP:0004381	Supravalvular aortic stenosis
HP:0100700	Abnormal arachnoid mater morphology
HP:0002624	Abnormal venous morphology
HP:0002289	Alopecia universalis
HP:0009588	Vestibular Schwannoma
HP:0001648	Cor pulmonale
HP:0002091	Restrictive ventilatory defect
HP:0002092	Pulmonary arterial hypertension
HP:0002113	Pulmonary infiltrates
HP:0003138	Increased blood urea nitrogen
HP:0003259	Elevated serum creatinine
HP:0005180	Tricuspid regurgitation
HP:0012585	Renal atrophy
HP:0005133	Right ventricular dilatation
HP:0005575	Hemolytic-uremic syndrome
HP:0001697	Abnormal pericardium morphology
HP:0012486	Myelitis
HP:0002385	Paraparesis
HP:0006706	Cystic liver disease
HP:0010880	Increased nuchal translucency
HP:0000457	Depressed nasal ridge
HP:0002263	Exaggerated cupid's bow
HP:0002500	Abnormality of the cerebral white matter
HP:0002835	Aspiration
HP:0000600	Abnormality of the pharynx
HP:0004327	Abnormal vitreous humor morphology
HP:0004378	Abnormality of the anus
HP:0012374	obsolete Abnormal globe morphology
HP:0100768	Choriocarcinoma
HP:0030991	Sclerosing cholangitis
HP:0006510	Chronic pulmonary obstruction
HP:0000710	Hyperorality
HP:0001270	Motor delay
HP:0001548	Overgrowth
HP:0002311	Incoordination
HP:0006288	Advanced eruption of teeth
HP:0006323	Premature loss of primary teeth
HP:0009890	High anterior hairline
HP:0100034	Motor tics
HP:0100035	Phonic tics
HP:0000348	High forehead
HP:0001520	Large for gestational age
HP:0001239	Wrist flexion contracture
HP:0007359	Focal-onset seizure
HP:0000430	Underdeveloped nasal alae
HP:0007400	Irregular hyperpigmentation
HP:0100495	Mastocytosis
HP:0012378	Fatigue
HP:0002046	Heat intolerance
HP:0003270	Abdominal distention
HP:0002180	Neurodegeneration
HP:0003493	Antinuclear antibody positivity
HP:0030057	Autoimmune antibody positivity
HP:0006802	Abnormal anterior horn cell morphology
HP:0000064	Hypoplastic labia minora
HP:0000338	Hypomimic face
HP:0001642	Pulmonic stenosis
HP:0011344	Severe global developmental delay
HP:0200007	Abnormal size of the palpebral fissures
HP:0004464	Postauricular pit
HP:0000130	Abnormality of the uterus
HP:0000137	Abnormality of the ovary
HP:0000142	Abnormal vagina morphology
HP:0000370	Abnormality of the middle ear
HP:0011787	Central hypothyroidism
HP:0000274	Small face
HP:0000446	Narrow nasal bridge
HP:0000622	Blurred vision
HP:0001245	Small thenar eminence
HP:0009601	Aplasia/Hypoplasia of the thumb
HP:0011343	Moderate global developmental delay
HP:0000419	Abnormality of the nasal septum
HP:0000502	Abnormal conjunctiva morphology
HP:0000591	Abnormal sclera morphology
HP:0000615	Abnormal pupil morphology
HP:0001163	Abnormality of the metacarpal bones
HP:0001832	Abnormal metatarsal morphology
HP:0001850	Abnormality of the tarsal bones
HP:0010490	Abnormality of the palmar creases
HP:0010881	Abnormality of the umbilical cord
HP:0009113	Diaphragmatic weakness
HP:0011664	Left ventricular noncompaction cardiomyopathy
HP:0100240	Synostosis of joints
HP:0001838	Rocker bottom foot
HP:0003717	Minimal subcutaneous fat
HP:0001339	Lissencephaly
HP:0001591	Bell-shaped thorax
HP:0002655	Spondyloepiphyseal dysplasia
HP:0002983	Micromelia
HP:0003016	Metaphyseal widening
HP:0009826	Limb undergrowth
HP:0004488	Macrocephaly at birth
HP:0001695	Cardiac arrest
HP:0001712	Left ventricular hypertrophy
HP:0100775	Dural ectasia
HP:0000846	Adrenal insufficiency
HP:0002925	Increased thyroid-stimulating hormone level
HP:0100646	Thyroiditis
HP:0000836	Hyperthyroidism
HP:0004414	Abnormality of the pulmonary artery
HP:0000465	Webbed neck
HP:0000723	Restrictive behavior
HP:0002253	Colonic diverticula
HP:0001310	Dysmetria
HP:0000093	Proteinuria
HP:0002907	Microscopic hematuria
HP:0003073	Hypoalbuminemia
HP:0004315	Decreased circulating IgG level
HP:0000795	Abnormality of the urethra
HP:0001015	Prominent superficial veins
HP:0004691	2-3 toe syndactyly
HP:0005328	Progeroid facial appearance
HP:0005487	Prominent metopic ridge
HP:0007552	Abnormal subcutaneous fat tissue distribution
HP:0100678	Premature skin wrinkling
HP:0031137	Storage in hepatocytes
HP:0002521	Hypsarrhythmia
HP:0005390	Recurrent opportunistic infections
HP:0002716	Lymphadenopathy
HP:0005379	obsolete Severe T lymphocytopenia
HP:0004432	Agammaglobulinemia
HP:0006695	Atrioventricular canal defect
HP:0001733	Pancreatitis
HP:0002350	Cerebellar cyst
HP:0012110	Hypoplasia of the pons
HP:0001948	Alkalosis
HP:0003113	Hypochloremia
HP:0003155	Elevated alkaline phosphatase
HP:0003542	Increased serum pyruvate
HP:0000421	Epistaxis
HP:0200136	Oral-pharyngeal dysphagia
HP:0000805	Enuresis
HP:0005616	Accelerated skeletal maturation
HP:0002459	obsolete Dysautonomia
HP:0007302	Bipolar affective disorder
HP:0100602	Preeclampsia
HP:0100508	Abnormality of vitamin metabolism
HP:0001140	Limbal dermoid
HP:0000143	Rectovaginal fistula
HP:0001746	Asplenia
HP:0012715	Profound hearing impairment
HP:0001748	Polysplenia
HP:0003072	Hypercalcemia
HP:0002905	Hyperphosphatemia
HP:0002901	Hypocalcemia
HP:0001367	Abnormal joint morphology
HP:0010562	Keloids
HP:0004430	Severe combined immunodeficiency
HP:0000003	Multicystic kidney dysplasia
HP:0010980	Hyperlipoproteinemia
HP:0002155	Hypertriglyceridemia
HP:0000520	Proptosis
HP:0000180	Lobulated tongue
HP:0005486	Small fontanelle
HP:0000891	Cervical ribs
HP:0002557	Hypoplastic nipples
HP:0009112	Aplasia of the left hemidiaphragm
HP:0001719	Double outlet right ventricle
HP:0001682	Subvalvular aortic stenosis
HP:0001667	Right ventricular hypertrophy
HP:0002101	Abnormal lung lobation
HP:0002202	Pleural effusion
HP:0002566	Intestinal malrotation
HP:0004510	Pancreatic islet-cell hyperplasia
HP:0001747	Accessory spleen
HP:0002181	Cerebral edema
HP:0000967	Petechiae
HP:0009702	Carpal synostosis
HP:0000927	Abnormality of skeletal maturation
HP:0004348	Abnormality of bone mineral density
HP:0003019	Abnormality of the wrist
HP:0003063	Abnormality of the humerus
HP:0001059	Pterygium
HP:0001528	Hemihypertrophy
HP:0011228	Horizontal eyebrow
HP:0000766	Abnormality of the sternum
HP:0001254	Lethargy
HP:0002360	Sleep disturbance
HP:0001063	Acrocyanosis
HP:0001769	Broad foot
HP:0010280	Stomatitis
HP:0001288	Gait disturbance
HP:0008330	Reduced von Willebrand factor activity
HP:0001954	Recurrent fever
HP:0004311	Abnormal macrophage morphology
HP:0012539	Non-Hodgkin lymphoma
HP:0002074	Increased neuronal autofluorescent lipopigment
HP:0002973	Abnormality of the forearm
HP:0003203	Impaired oxidative burst
HP:0003027	Mesomelia
HP:0002754	Osteomyelitis
HP:0004431	Complement deficiency
HP:0001258	Spastic paraplegia
HP:0012811	Wide nasal ridge
HP:0011832	Narrow nasal tip
HP:0000288	Abnormality of the philtrum
HP:0002357	Dysphasia
HP:0000871	Panhypopituitarism
HP:0000233	Thin vermilion border
HP:0003281	Increased serum ferritin
HP:0010752	Cleft mandible
HP:0000437	Depressed nasal tip
HP:0000453	Choanal atresia
HP:0000863	Central diabetes insipidus
HP:0000058	Abnormality of the labia
HP:0007418	Alopecia totalis
HP:0100765	Abnormality of the tonsils
HP:0100747	Macrodactyly of toe
HP:0002109	obsolete Abnormality of the bronchi
HP:0011950	Bronchiolitis
HP:0002850	Decreased circulating total IgM
HP:0001395	Hepatic fibrosis
HP:0010701	Abnormal immunoglobulin level
HP:0009928	Thick nasal alae
HP:0010807	Open bite
HP:0002126	Polymicrogyria
HP:0002900	Hypokalemia
HP:0000155	Oral ulcer
HP:0000135	Hypogonadism
HP:0100783	Breast aplasia
HP:0000336	Prominent supraorbital ridges
HP:0010557	Overlapping fingers
HP:0005100	Premature birth following premature rupture of fetal membranes
HP:0002594	Pancreatic hypoplasia
HP:0010109	Short hallux
HP:0002334	Abnormality of the cerebellar vermis
HP:0003326	Myalgia
HP:0001645	Sudden cardiac death
HP:0001612	Weak cry
HP:0001618	Dysphonia
HP:0001336	Myoclonus
HP:0001283	Bulbar palsy
HP:0002080	Intention tremor
HP:0002174	Postural tremor
HP:0002064	Spastic gait
HP:0009800	Maternal diabetes
HP:0001662	Bradycardia
HP:0006595	Scapulohumeral synostosis
HP:0005815	Supernumerary ribs
HP:0000307	Pointed chin
HP:0012371	Hyperplasia of midface
HP:0002643	Neonatal respiratory distress
HP:0002093	Respiratory insufficiency
HP:0010310	Chylothorax
HP:0006376	Limited elbow flexion
HP:0006467	Limited shoulder movement
HP:0010505	Limitation of movement at ankles
HP:0010501	Limitation of knee mobility
HP:0009896	Abnormality of the antitragus
HP:0004404	Abnormal nipple morphology
HP:0011957	Abnormal pectoral muscle morphology
HP:0000777	Abnormality of the thymus
HP:0000418	Narrow nasal ridge
HP:0001572	Macrodontia
HP:0002967	Cubitus valgus
HP:0000988	Skin rash
HP:0009733	Glioma
HP:0012452	Restless legs
HP:0100031	Neoplasm of the thyroid gland
HP:0030127	Endometriosis
HP:0000123	Nephritis
HP:0001974	Leukocytosis
HP:0010976	B lymphocytopenia
HP:0000010	Recurrent urinary tract infections
HP:0100807	Long fingers
HP:0000653	Sparse eyelashes
HP:0000171	Microglossia
HP:0002575	Tracheoesophageal fistula
HP:0009933	Narrow naris
HP:0000883	Thin ribs
HP:0000121	Nephrocalcinosis
HP:0001349	Facial diplegia
HP:0012037	Pectoralis amyotrophy
HP:0100560	Upper limb asymmetry
HP:0005684	Distal arthrogryposis
HP:0010722	Asymmetry of the ears
HP:0009380	Aplasia of the fingers
HP:0001657	Prolonged QT interval
HP:0002040	Esophageal varix
HP:0000613	Photophobia
HP:0000561	Absent eyelashes
HP:0002223	Absent eyebrow
HP:0002591	Polyphagia
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002419	Molar tooth sign on MRI
HP:0001010	Hypopigmentation of the skin
HP:0005772	Aplasia/Hypoplasia of the tibia
HP:0002211	White forelock
HP:0007126	Proximal amyotrophy
HP:0003798	Nemaline bodies
HP:0006533	Bronchodysplasia
HP:0003391	Gowers sign
HP:0000771	Gynecomastia
HP:0100785	Insomnia
HP:0010529	Echolalia
HP:0000363	Abnormality of earlobe
HP:0002612	Congenital hepatic fibrosis
HP:0006721	Acute lymphoblastic leukemia
HP:0001958	Nonketotic hypoglycemia
HP:0003457	EMG abnormality
HP:0010636	Schizencephaly
HP:0005266	Intestinal polyp
HP:0200063	Colorectal polyposis
HP:0001762	Talipes equinovarus
HP:0000056	Abnormality of the clitoris
HP:0008655	Aplasia/Hypoplasia of the fallopian tube
HP:0002072	Chorea
HP:0008734	Decreased testicular size
HP:0002136	Broad-based gait
HP:0010958	Bilateral renal agenesis
HP:0002510	Spastic tetraplegia
HP:0003234	Decreased plasma carnitine
HP:0000720	Mood swings
HP:0012638	Abnormal nervous system physiology
HP:0002803	Congenital contracture
HP:0000152	Abnormality of head or neck
HP:0004377	Hematological neoplasm
HP:0100006	Neoplasm of the central nervous system
HP:0012759	Neurodevelopmental abnormality
HP:0011805	Abnormal skeletal muscle morphology
HP:0003634	Amyoplasia
HP:0001507	Growth abnormality
HP:0001939	Abnormality of metabolism/homeostasis
HP:0011013	Abnormal circulating carbohydrate concentration
HP:0410008	Abnormality of the peripheral nervous system
HP:0200134	Epileptic encephalopathy
HP:0001881	Abnormal leukocyte morphology
HP:0005549	obsolete Congenital neutropenia
HP:0004439	Craniofacial dysostosis
HP:0012443	Abnormality of brain morphology
HP:0000202	Oral cleft
HP:0011842	Abnormality of skeletal morphology
HP:0003808	Abnormal muscle tone
HP:0001574	Abnormality of the integument
HP:0030056	Uncombable hair
HP:0003549	Abnormality of connective tissue
HP:0030875	Abnormality of pulmonary circulation
HP:0000118	Phenotypic abnormality
HP:0012469	Infantile spasms
HP:0032894	Seizure precipitated by febrile infection
HP:0100661	Trigeminal neuralgia
HP:0012207	Reduced sperm motility
HP:0000798	Oligospermia
HP:0012864	Abnormal sperm morphology
HP:0008232	Elevated circulating follicle stimulating hormone level
HP:0040306	Decreased male libido
HP:0012208	Immotile sperm
HP:0000027	Azoospermia
HP:0000870	Increased circulating prolactin concentration
HP:0008187	Absence of secondary sex characteristics
HP:0010469	Absent testis
HP:0011969	Elevated circulating luteinizing hormone level
HP:0040171	Decreased serum testosterone level
HP:0003251	Male infertility
HP:0009804	Reduced number of teeth
HP:0000548	Cone/cone-rod dystrophy
HP:0000546	Retinal degeneration
HP:0008002	Abnormality of macular pigmentation
HP:0000608	Macular degeneration
HP:0030611	Retinal pigment epithelial loss on macular OCT
HP:0001135	Chorioretinal dystrophy
HP:0030468	Abnormal multifocal electroretinogram
HP:00030532	Visual acuity test abnormality
HP:0007401	Macular atrophy
HP:0030466	Abnormal full-field electroretinogram
HP:007737	Bone spicule pigmentation of the retina
HP:0011342	Mild global developmental delay
HP:0030610	Photoreceptor outer segment loss on macular OCT
HP:0007722	Retinal pigment epithelial atrophy
HP:0030493	Abnormality of foveal pigmentation
HP:0007843	Attenuation of retinal blood vessels
HP:0007754	Macular dystrophy
HP:0011509	Macular hyperpigmentation
HP:0008527	Congenital sensorineural hearing impairment
HP:0200070	Peripheral retinal atrophy
HP:0007793	Granular macular appearance
HP:0007987	Progressive visual field defects
HP:0100817	Renovascular hypertension
HP:0007868	obsolete Age-related macular degeneration
HP:0030527	Very severe constriction of peripheral visual field
HP:0030551	Visual acuity light perception with projection
HP:0011505	Cystoid macular edema
HP:0010442	Polydactyly
HP:0007642	Congenital stationary night blindness
HP:0009073	Progressive proximal muscle weakness
HP:0003741	Congenital muscular dystrophy
HP:0100299	Muscle fiber inclusion bodies
HP:0003540	Impaired platelet aggregation
HP:0010489	Absent palmar crease
HP:0009824	Upper limb undergrowth
HP:0002395	Lower limb hyperreflexia
HP:0001138	Optic neuropathy
HP:0007103	Hypointensity of cerebral white matter on MRI
HP:0003458	EMG: myopathic abnormalities
HP:0002987	Elbow flexion contracture
HP:0006466	Ankle flexion contracture
HP:0008458	Progressive congenital scoliosis
HP:0000473	Torticollis
HP:0011800	Midface retrusion
HP:0000597	Ophthalmoparesis
HP:0005853	Congenital foot contraction deformities
HP:0007002	Motor axonal neuropathy
HP:0003327	Axial muscle weakness
HP:0003306	Spinal rigidity
HP:0002068	Neuromuscular dysphagia
HP:0001002	obsolete Decreased subcutaneous fat
HP:0002880	obsolete Respiratory difficulties
HP:0006829	Severe muscular hypotonia
HP:0011448	Ankle clonus
HP:0003487	Babinski sign
HP:0002378	Hand tremor
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002579	Gastrointestinal dysmotility
HP:0001041	Facial erythema
HP:0040180	Hyperkeratosis pilaris
HP:0001382	Joint hypermobility
HP:0003722	Neck flexor weakness
HP:0003323	Progressive muscle weakness
HP:0002380	Fasciculations
HP:0012785	Flexion contracture of finger
HP:0007936	Restrictive external ophthalmoplegia
HP:0030319	Weakness of facial musculature
HP:0008936	Muscular hypotonia of the trunk
HP:0030230	Central core regions in muscle fibers
HP:0011471	Gastrostomy tube feeding in infancy
HP:0001290	Generalized hypotonia
HP:0002421	Poor head control
HP:0010301	Spinal dysraphism
HP:0004303	Abnormal muscle fiber morphology
HP:0009046	Difficulty running
HP:0003715	Myofibrillar myopathy
HP:0000467	Neck muscle weakness
HP:0001999	Abnormal facial shape
HP:0002751	Kyphoscoliosis
HP:0030223	Perseveration
HP:0002344	Progressive neurologic deterioration
HP:0002522	Areflexia of lower limbs
HP:0003805	Rimmed vacuoles
HP:0005781	Contractures of the large joints
HP:0040083	Toe walking
HP:0003749	Pelvic girdle muscle weakness
HP:0012444	Brain atrophy
HP:0003738	Exercise-induced myalgia
HP:0003756	Skeletal myopathy
HP:0002492	Morphological abnormality of the corticospinal tract
HP:0100302	Muscle fiber tubuloreticular inclusions
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
HP:0003473	Fatigable weakness
HP:0002077	Migraine with aura
HP:0100559	Lower limb asymmetry
HP:0002079	Hypoplasia of the corpus callosum
HP:0002804	Arthrogryposis multiplex congenita
HP:0011623	Muscular ventricular septal defect
HP:0002191	Progressive spasticity
HP:0003390	Sensory axonal neuropathy
HP:0006986	Upper limb spasticity
HP:0002464	Spastic dysarthria
HP:0001308	Tongue fasciculations
HP:0007010	Poor fine motor coordination
HP:0003737	Mitochondrial myopathy
HP:0008012	obsolete Congenital myopia
HP:0008872	Feeding difficulties in infancy
HP:0005750	Contractures of the joints of the lower limbs
HP:0009067	Progressive spinal muscular atrophy
HP:0001623	Breech presentation
HP:0001374	Congenital hip dislocation
HP:0002359	Frequent falls
HP:0003803	Type 1 muscle fiber predominance
HP:0011410	Caesarian section
HP:0008947	Infantile muscular hypotonia
HP:0100501	Recurrent bronchiolitis
HP:0003789	Minicore myopathy
HP:0000544	External ophthalmoplegia
HP:0001605	Vocal cord paralysis
HP:0003712	Skeletal muscle hypertrophy
HP:0012507	Weakness of orbicularis oculi muscle
HP:0009816	Lower limb undergrowth
HP:0008935	Generalized neonatal hypotonia
HP:0003484	Upper limb muscle weakness
HP:0008331	Elevated creatine kinase after exercise
HP:0001315	Reduced tendon reflexes
HP:0012473	Tongue atrophy
HP:0003273	Hip contracture
HP:0006380	Knee flexion contracture
HP:0003752	Episodic flaccid weakness
HP:0100298	Motheaten muscle fibers
HP:0003693	Distal amyotrophy
HP:0002167	Neurological speech impairment
HP:0003388	Easy fatigability
HP:0001348	Brisk reflexes
HP:0003445	EMG: neuropathic changes
HP:0009063	Progressive distal muscle weakness
HP:0003720	Generalized muscle hypertrophy
HP:0002493	Upper motor neuron dysfunction
HP:0012448	Delayed myelination
HP:0001338	Partial agenesis of the corpus callosum
HP:0006879	Pontocerebellar atrophy
HP:0200101	Decreased/absent ankle reflexes
HP:0009020	Exercise-induced muscle fatigue
HP:0002067	Bradykinesia
HP:0012751	Abnormal basal ganglia MRI signal intensity
HP:0003355	Aminoaciduria
HP:0012450	Chronic constipation
HP:0011834	Moyamoya phenomenon
HP:0001297	Stroke
HP:0200049	Upper limb hypertonia
HP:0008981	Calf muscle hypertrophy
HP:0006785	Limb-girdle muscular dystrophy
HP:0006957	Loss of ability to walk
HP:0030098	Reduced muscle dystrophin expression
HP:0030115	Reduced muscle fiber dysferlin
HP:0002058	Myopathic facies
HP:0007858	Chorioretinal lacunae
HP:0006657	Hypoplasia of first ribs
HP:0007165	Periventricular heterotopia
HP:0009779	3-4 toe syndactyly
HP:0010665	Bilateral coxa valga
HP:0007598	Bilateral single transverse palmar creases
HP:0006101	Finger syndactyly
HP:0010511	Long toe
HP:0002370	Poor coordination
HP:0000480	Retinal coloboma
HP:0001770	Toe syndactyly
HP:0010851	EEG with burst suppression
HP:0002791	Hypoventilation
HP:0040075	Hypopituitarism
HP:0012506	Small pituitary gland
HP:0000538	Pseudopapilledema
HP:0012717	Severe conductive hearing impairment
HP:0001370	Rheumatoid arthritis
HP:0000016	Urinary retention
HP:0012537	Food intolerance
HP:0011297	Abnormal digit morphology
HP:0001273	Abnormal corpus callosum morphology
HP:0030148	Heart murmur
HP:0045018	Partial duplication of eyebrows
HP:0008998	Pectoralis hypoplasia
HP:0001707	Abnormal right ventricle morphology
HP:0001540	Diastasis recti
HP:0100693	Iridodonesis
HP:0002265	Large fleshy ears
HP:0001132	Lens subluxation
HP:0004927	Pulmonary artery dilatation
HP:0005619	Thoracolumbar kyphosis
HP:0008619	Bilateral sensorineural hearing impairment
HP:0001045	Vitiligo
HP:0009124	Abnormal adipose tissue morphology
HP:0002979	Bowing of the legs
HP:0000455	Broad nasal tip
HP:0001007	Hirsutism
HP:0010314	Premature thelarche
HP:0000075	Renal duplication
HP:0000368	Low-set, posteriorly rotated ears
HP:0001052	Nevus flammeus
HP:0200048	Cyanotic episode
HP:0001902	Giant platelets
HP:0030043	Hip subluxation
HP:0002938	Lumbar hyperlordosis
HP:0030084	Clinodactyly
HP:0005560	Imbalanced hemoglobin synthesis
HP:0001539	Omphalocele
HP:0009778	Short thumb
HP:0002277	Horner syndrome
HP:0011701	Multifocal atrial tachycardia
HP:0005274	Prominent nasal tip
HP:0001262	Excessive daytime somnolence
HP:0001285	Spastic tetraparesis
HP:0012171	Stereotypical hand wringing
HP:0002518	Abnormality of the periventricular white matter
HP:0005692	Joint hyperflexibility
HP:0007440	Generalized hyperpigmentation
HP:0001805	Onychogryposis
HP:0011945	Bronchiolitis obliterans organizing pneumonia
HP:0003763	Bruxism
HP:0010500	Hyperextensibility of the knee
HP:0040115	Abnormality of the Eustachian tube
HP:0008751	Laryngeal cleft
HP:0000403	Recurrent otitis media
HP:0001787	Abnormal delivery
HP:0002571	Achalasia
HP:0002615	Hypotension
HP:0003550	Predominantly lower limb lymphedema
HP:0030363	Primary Caesarian section
HP:0001727	Thromboembolic stroke
HP:0100603	Toxemia of pregnancy
HP:0010836	Abnormal circulating copper concentration
HP:0000356	Abnormality of the outer ear
HP:0002197	Generalized-onset seizure
HP:0011436	Abnormal maternal serum screening
HP:0003517	Birth length greater than 97th percentile
HP:0003561	Birth length less than 3rd percentile
HP:0012188	Hyperemesis gravidarum
HP:0010519	Increased fetal movement
HP:0030244	Maternal fever in pregnancy
HP:0008071	Maternal hypertension
HP:0100622	Maternal seizure
HP:0011438	Maternal teratogenic exposure
HP:0001998	Neonatal hypoglycemia
HP:0040187	Neonatal sepsis
HP:0002033	Poor suck
HP:0006579	Prolonged neonatal jaundice
HP:0001724	obsolete Aortic dilatation
HP:0010621	Cutaneous syndactyly of toes
HP:0001880	Eosinophilia
HP:0000162	Glossoptosis
HP:0100578	Lipoatrophy
HP:0002562	Low-set nipples
HP:0012893	Neck muscle hypertrophy
HP:0001027	Soft, doughy skin
HP:0100738	Abnormal eating behavior
HP:0007328	Impaired pain sensation
HP:0002878	Respiratory failure
HP:0001776	Bilateral talipes equinovarus
HP:0001360	Holoprosencephaly
HP:0001973	Autoimmune thrombocytopenia
HP:0100749	Chest pain
HP:0012531	Pain
HP:0007585	Skin fragility with non-scarring blistering
HP:0002108	Spontaneous pneumothorax
HP:0006562	Viral hepatitis
HP:0012647	Abnormal inflammatory response
HP:0012088	Abnormal urinary odor
HP:0011458	Abdominal symptom
HP:0002829	Arthralgia
HP:0010783	Erythema
HP:0010307	Stridor
HP:0001269	Hemiparesis
HP:0006532	Recurrent pneumonia
HP:0002580	Volvulus
HP:0012387	Bronchitis
HP:0001266	Choreoathetosis
HP:0001531	Failure to thrive in infancy
HP:0011470	Nasogastric tube feeding in infancy
HP:0001361	Nystagmus-induced head nodding
HP:0001997	Gout
HP:0000965	Cutis marmorata
HP:0010316	Ebstein anomaly of the tricuspid valve
HP:0010543	Opsoclonus
HP:0007704	Paroxysmal involuntary eye movements
HP:0030364	Secondary Caesarian section
HP:0007738	Uncontrolled eye movements
HP:0030366	Delivery by Odon device
HP:0011411	Forceps delivery
HP:0030369	Induced vaginal delivery
HP:0005268	Spontaneous abortion
HP:0030365	Vaginal birth after Caesarian
HP:0011412	Ventouse delivery
HP:0002572	Episodic vomiting
HP:0030350	Erythematous papule
HP:0001386	Joint swelling
HP:0000147	Polycystic ovaries
HP:0012412	Premature adrenarche
HP:0004411	Deviated nasal septum
HP:0040183	Encopresis
HP:0100507	Reduced blood folate concentration
HP:0007011	Fourth cranial nerve palsy
HP:0000375	Abnormal cochlea morphology
HP:0009911	Abnormal temporal bone morphology
HP:0000081	Duplicated collecting system
HP:0006894	Hypoplastic olfactory lobes
HP:0011380	Morphological abnormality of the semicircular canal
HP:0000110	Renal dysplasia
HP:0030025	Auricular pit
HP:0010044	Short 4th metacarpal
HP:0010047	Short 5th metacarpal
HP:0000201	Pierre-Robin sequence
HP:0100837	Atrophodermia vermiculata
HP:0002673	Coxa valga
HP:0001476	Delayed closure of the anterior fontanelle
HP:0011069	Increased number of teeth
HP:0009879	Simplified gyral pattern
HP:0006315	Single median maxillary incisor
HP:0001194	Abnormalities of placenta or umbilical cord
HP:0100767	Abnormal placenta morphology
HP:0006543	Cardiorespiratory arrest
HP:0003074	Hyperglycemia
HP:0000842	Hyperinsulinemia
HP:0011951	Aspiration pneumonia
HP:0006528	Chronic lung disease
HP:0002383	Encephalitis
HP:0000388	Otitis media
HP:0002530	Axial dystonia
HP:0002780	Bronchomalacia
HP:0008755	Laryngotracheomalacia
HP:0000308	Microretrognathia
HP:0002786	Tracheobronchomalacia
HP:0012389	Appendicular hypotonia
HP:0011323	Cleft of chin
HP:0000417	Slender nose
HP:0001863	Toe clinodactyly
HP:0008386	Aplasia/Hypoplasia of the nails
HP:0006989	Dysplastic corpus callosum
HP:0100954	Open operculum
HP:0004482	Relative macrocephaly
HP:3000033	Abnormal nasopharyngeal adenoid morphology
HP:0009062	Infantile axial hypotonia
HP:0002189	obsolete Excessive daytime sleepiness
HP:0002141	Gait imbalance
HP:0012734	Ketotic hypoglycemia
HP:0005968	Temperature instability
HP:0012538	Gluten intolerance
HP:0000979	Purpura
HP:0001988	Recurrent hypoglycemia
HP:0001488	Bilateral ptosis
HP:0011229	Broad eyebrow
HP:0004440	Coronal craniosynostosis
HP:0004453	Overfolding of the superior helices
HP:0012547	Abnormal involuntary eye movements
HP:0100814	Blue nevus
HP:0010751	Dimple chin
HP:0007087	obsolete Involuntary jerking movements
HP:0012498	Nuchal cord
HP:0002472	Small cerebral cortex
HP:0100307	Cerebellar hemisphere hypoplasia
HP:0002151	Increased serum lactate
HP:0001698	Pericardial effusion
HP:0006903	Congenital peripheral neuropathy
HP:0006895	Lower limb hypertonia
HP:0002744	Bilateral cleft lip and palate
HP:0010664	Fusion of the left and right thalami
HP:0000327	Hypoplasia of the maxilla
HP:0000474	Thickened nuchal skin fold
HP:0000105	Enlarged kidney
HP:0000113	Polycystic kidney dysplasia
HP:0000104	Renal agenesis
HP:0001362	Calvarial skull defect
HP:0008245	Pituitary hypothyroidism
HP:0001552	Barrel-shaped chest
HP:0006297	Hypoplasia of dental enamel
HP:0100023	Recurrent hand flapping
HP:0005518	Increased mean corpuscular volume
HP:0012418	Hypoxemia
HP:0100259	Postaxial polydactyly
HP:0010814	Abnormal position of hair whorl
HP:0003764	Nevus
HP:0000445	Wide nose
HP:0010677	Enuresis nocturna
HP:0001510	Growth delay
HP:0012428	Prominent calcaneus
HP:0012471	Thick vermilion border
HP:0007110	Central hypoventilation
HP:0010614	Fibroma
HP:0001034	Hypermelanotic macule
HP:0011365	Patchy hypopigmentation of hair
HP:0001920	Renal artery stenosis
HP:0002828	Multiple joint contractures
HP:0002144	Tethered cord
HP:0010964	Abnormal circulating long-chain fatty-acid concentration
HP:0010536	Central sleep apnea
HP:0011262	Crimped helix
HP:0040079	Irregular dentition
HP:0011481	Abnormal lacrimal duct morphology
HP:0000220	Velopharyngeal insufficiency
HP:0002153	Hyperkalemia
HP:0002148	Hypophosphatemia
HP:0012621	Persistent cloaca
HP:0000867	Secondary hyperparathyroidism
HP:0003762	Uterus didelphys
HP:0100512	Low levels of vitamin D
HP:0012156	Hemophagocytosis
HP:0008209	Premature ovarian insufficiency
HP:0004349	Reduced bone mineral density
HP:0001924	Sideroblastic anemia
HP:0011703	Sinus tachycardia
HP:0010609	Skin tags
HP:0002725	Systemic lupus erythematosus
HP:0003193	Allergic rhinitis
HP:0006896	Hypnopompic hallucinations
HP:0002524	Cataplexy
HP:0005227	Adenomatous colonic polyposis
HP:0012173	Orthostatic tachycardia
HP:0001271	Polyneuropathy
HP:0009120	Aplasia/Hypoplasia involving the sinuses
HP:0000625	Eyelid coloboma
HP:0009754	Fibrous syngnathia
HP:0012478	Temporomandibular joint ankylosis
HP:0001233	2-3 finger syndactyly
HP:0000811	Abnormal external genitalia
HP:0005120	Abnormal cardiac atrium morphology
HP:0008388	Abnormal toenail morphology
HP:0011467	Absent gallbladder
HP:0010760	Absent toe
HP:0001545	Anteriorly placed anus
HP:0001640	Cardiomegaly
HP:0002990	Fibular aplasia
HP:0004443	Lambdoidal craniosynostosis
HP:0008569	Microtia, second degree
HP:0006277	Pancreatic hyperplasia
HP:0010445	Primum atrial septal defect
HP:0011640	Single coronary artery origin
HP:0011608	Type II truncus arteriosus
HP:0011327	Posterior plagiocephaly
HP:0007655	Eversion of lateral third of lower eyelids
HP:0010747	Medial flaring of the eyebrow
HP:0005957	Breathing dysregulation
HP:0000992	Cutaneous photosensitivity
HP:0011995	Atrial septal dilatation
HP:0000377	Abnormality of the pinna
HP:0011266	Microtia, first degree
HP:0012650	Perisylvian polymicrogyria
HP:0004970	Ascending tubular aorta aneurysm
HP:0008348	Decreased circulating IgG2 level
HP:0012115	Hepatitis
HP:0006979	Sleep-wake cycle disturbance
HP:0008587	Mild neurosensory hearing impairment
HP:0006097	3-4 finger syndactyly
HP:0005263	Gastritis
HP:0200043	Verrucae
HP:0009600	Flexion contracture of thumb
HP:0010818	Generalized tonic seizure
HP:0002599	Head titubation
HP:0002090	Pneumonia
HP:0030423	Splenic cyst
HP:0030187	Titubation
HP:0002375	Hypokinesia
HP:0007166	Paroxysmal dyskinesia
HP:0003077	Hyperlipidemia
HP:0000017	Nocturia
HP:0100555	Asymmetric growth
HP:0011847	Giant cell tumor of bone
HP:0000112	Nephropathy
HP:0000246	Sinusitis
HP:0001012	Multiple lipomas
HP:0000851	Congenital hypothyroidism
HP:0002345	Action tremor
HP:0002677	Small foramen magnum
HP:0011947	Respiratory tract infection
HP:0012151	Hemothorax
HP:0005988	Congenital muscular torticollis
HP:0002329	Drowsiness
HP:0012395	Seasonal allergy
HP:0011679	Tetralogy of Fallot with pulmonary stenosis
HP:0001864	Clinodactyly of the 5th toe
HP:0006934	Congenital nystagmus
HP:0100355	Contractures of the distal interphalangeal joint of the 5th toe
HP:0007894	Hypopigmentation of the fundus
HP:0012377	Hemianopia
HP:0002354	Memory impairment
HP:0000872	Hashimoto thyroiditis
HP:0002519	Hypnagogic hallucinations
HP:0010647	Abnormal elasticity of skin
HP:0002592	Gastric ulcer
HP:0004938	Tortuous cerebral arteries
HP:0004948	Vascular tortuosity
HP:0002516	Increased intracranial pressure
HP:0006460	Increased laxity of ankles
HP:0002317	Unsteady gait
HP:0000182	Movement abnormality of the tongue
HP:0009887	Abnormality of hair pigmentation
HP:0005824	Clinodactyly of the 2nd toe
HP:0002212	Curly hair
HP:0009803	Short phalanx of finger
HP:0000572	Visual loss
HP:0005216	Impaired mastication
HP:0000619	Impaired convergence
HP:0002403	Positive Romberg sign
HP:0008744	Abnormal aryepiglottic fold morphology
HP:0002374	Diminished movement
HP:0008277	Abnormal blood zinc concentration
HP:0012781	Mid-frequency hearing loss
HP:0100758	Gangrene
HP:0003256	Abnormality of the coagulation cascade
HP:0004387	Enterocolitis
HP:0011029	Internal hemorrhage
HP:0011649	Patent ductus arteriosus after premature birth
HP:0012050	Anasarca
HP:0001683	Ectopia cordis
HP:0011682	Perimembranous ventricular septal defect
HP:0010624	Aplastic/hypoplastic toenail
HP:0002705	High, narrow palate
HP:0011340	Incomplete cleft of the upper lip
HP:0011613	Interrupted aortic arch type B
HP:0006167	Prominent proximal interphalangeal joints
HP:0002918	Hypermagnesemia
HP:0011937	Hypoplastic fifth toenail
HP:0001067	Neurofibromas
HP:0011403	Abnormal umbilical cord blood vessels
HP:0003316	Butterfly vertebrae
HP:0002247	Duodenal atresia
HP:0008439	Lumbar hemivertebrae
HP:0011599	Mesocardia
HP:0008467	Thoracic hemivertebrae
HP:0004626	Lumbar scoliosis
HP:0006808	Cerebral hypomyelination
HP:0002926	Abnormality of thyroid physiology
HP:0007970	Congenital ptosis

"},"url":"http://purl.obolibrary.org/obo/hp.owl","version":"0.2.0","name":"HPO","title":"Human Phenotype Ontology","status":"draft","experimental":false,"date":"2023-06-12T15:49:49+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 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Code	Display
C2348584	Subject Unique Identifier
C0079399	Gender
C168843	Age in Days at Enrollment
C1305855	Body mass index
C0872128	case control

Code	Display
HP:0010772	Anomalous pulmonary venous return

Code	Display
0017705	congenital pulmonary venous return anomaly
0007130	congenital total pulmonary venous return anomaly

Code	Display
C99269	Case
C99270	Control

Code	Display
C99269	Case
C99270	Control