{"Name":"Alopecia-intellectual disability syndrome 2","DiseaseID__c":"GARD:0004291","id":4291,"encodedName":"alopecia-intellectual-disability-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Alopecia-intellectual disability syndrome 2","Xref_IDs__c":"C1835852; C563668; DOID:0080629; MEDGEN:372142; MONDO:0012487; OMIM:610422","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:610422","Disease_Description__c":"For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 ({203650}).","GARD_Name__c":"Alopecia-intellectual disability syndrome 2","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Alopecia-intellectual disability syndrome 2 is a condition that affects both hair growth and intellectual abilities. People with this condition may have variable levels of hair loss (alopecia) and intellectual development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610422","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012487","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Alopecia-intellectual disability syndrome 2 is a condition that affects both hair growth and intellectual abilities. People with this condition may have variable levels of hair loss (alopecia) and intellectual development.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Alopecia-intellectual disability syndrome 2","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004291","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/610422","Source__c":"C1835852; MONDO:0012487","Xref__c":"OMIM:610422"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835852","Source__c":"C1835852","Xref__c":"C1835852"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372142","Source__c":"C1835852","Xref__c":"MEDGEN:372142"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080629","Source__c":"MONDO:0012487","Xref__c":"DOID:0080629"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563668","Source__c":"MONDO:0012487","Xref__c":"C563668"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012487","Source__c":"GARD:0004291","Xref__c":"MONDO:0012487"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610422","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610422","Feature__r":{"HPO_Description__c":"Loss of all hair on the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002289","HPO_Synonym__c":"Alopecia, complete","HPO_Name__c":"Alopecia universalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}