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

"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]} --- 44 ----------------- 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":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
"},"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

"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]} --- 45 ----------------- 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":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
"},"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

"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]} --- 47 ----------------- 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":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"hpo","text":{"status":"generated","div":"

Properties

This code system defines the following properties for its concepts

CodeTypeDescription
parentcodeParent codes.
importedbooleanIndicates if the concept is imported from another code system.
rootbooleanIndicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecatedbooleanIndicates if this concept is deprecated.

Filters

CodeDescriptionoperatorValue
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:

CodeDisplay
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. 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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:

CodeDisplay
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:

"},"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

"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]} --- 48 ----------------- 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":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"hpo","text":{"status":"generated","div":"

Properties

This code system defines the following properties for its concepts

CodeTypeDescription
parentcodeParent codes.
importedbooleanIndicates if the concept is imported from another code system.
rootbooleanIndicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecatedbooleanIndicates if this concept is deprecated.

Filters

CodeDescriptionoperatorValue
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:

CodeDisplay
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
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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":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://hl7.org/fhir/ValueSet/jurisdiction--2|4.0.1"},{"name":"cache-id","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 15:50:55 GMT last-modified:Mon, 12 Jun 2023 15:50:55 GMT pragma:no-cache server:nginx x-request-id:21-133435 {"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"}]}