{"Name":"Atrichia with papular lesions","DiseaseID__c":"GARD:0016762","id":16762,"encodedName":"atrichia-with-papular-lesions","IsDeleted":false,"Disease_Name_Full__c":"Atrichia with papular lesions","Xref_IDs__c":"715963002; C1859592; C565924; DOID:0060689; MEDGEN:395299; MONDO:0008847; OMIM:209500; ORPHA:86819","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008847","Disease_Description__c":"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.","GARD_Name__c":"Atrichia with papular lesions","GARD_Synonym__c":"apl; papular atrichia","Curated_Disease_Description_Source__c":"MONDO:0008847","Curated_Disease_Description__c":"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:86819","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008847","ORPHANET_ID__c":"ORPHA:86819","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atriquia con lesiones papulares","Spanish_Description_Source__c":"ORPHA:86819","Spanish_Description__c":"Es una forma hereditaria poco frecuente de alopecia que se caracteriza por una irreversible pérdida de pelo durante el periodo neonatal en todas las áreas del cuerpo con vello, asociada más tarde con el desarrollo de lesiones papulares por todo el cuerpo, mayoritariamente en la cara y en las superficies extensoras de las extremidades.","Spanish_Disease_Name__c":"atriquia con lesiones papulares","Spanish_GARD_Synonym__c":"atriquia papular","Category_Linearization__c":"ORPHA:89826","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":"A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.","Curated_Disease_Description_Source__c":"MONDO:0008847","GARD_Synonym__c":"apl; papular atrichia","Name":"Atrichia with papular lesions","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alopecia Areata Foundation","Website__c":"https://www.naaf.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565924","Source__c":"MONDO:0008847","Xref__c":"C565924"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060689","Source__c":"MONDO:0008847","Xref__c":"DOID:0060689"},{"URL__c":"https://www.omim.org/entry/209500","Source__c":"C1859592; MONDO:0008847; ORPHA:86819","Xref__c":"OMIM:209500"},{"URL__c":"https://www.orpha.net/en/disease/detail/86819","Source__c":"C1859592; MONDO:0008847; ORPHA:86819","Xref__c":"ORPHA:86819"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395299","Source__c":"C1859592","Xref__c":"MEDGEN:395299"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715963002","Source__c":"C1859592; MONDO:0008847","Xref__c":"715963002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859592","Source__c":"C1859592","Xref__c":"C1859592"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008847","Source__c":"GARD:0016762","Xref__c":"MONDO:0008847"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:209500","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007482","HPO_Name__c":"Generalized papillary lesions","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:209500","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["apl"," papular atrichia"]}