{"Name":"Recessive aplasia cutis congenita of limbs","DiseaseID__c":"GARD:0000754","id":754,"encodedName":"recessive-aplasia-cutis-congenita-of-limbs","IsDeleted":false,"Disease_Name_Full__c":"Recessive aplasia cutis congenita of limbs","Xref_IDs__c":"723500009; C1838206; C536840; MEDGEN:324970; MONDO:0010876; OMIM:600360","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":"MONDO:0010876","Disease_Description__c":"Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.","GARD_Name__c":"Recessive aplasia cutis congenita of limbs","GARD_Synonym__c":"aplasia cutis congenita of limbs, autosomal recessive; autosomal recessive aplasia cutis congenita of limb; congenital absence of skin on the upper or lower limbs; recessive aplasia cutis congenita of the limbs","Curated_Disease_Description_Source__c":"MONDO:0010876","Curated_Disease_Description__c":"Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010876","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":"Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.","Curated_Disease_Description_Source__c":"MONDO:0010876","GARD_Synonym__c":"aplasia cutis congenita of limbs, autosomal recessive; autosomal recessive aplasia cutis congenita of limb; congenital absence of skin on the upper or lower limbs; recessive aplasia cutis congenita of the limbs","Name":"Recessive aplasia cutis congenita of limbs","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838206","Source__c":"C1838206","Xref__c":"C1838206"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324970","Source__c":"C1838206","Xref__c":"MEDGEN:324970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536840","Source__c":"MONDO:0010876","Xref__c":"C536840"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723500009","Source__c":"C1838206; MONDO:0010876","Xref__c":"723500009"},{"URL__c":"https://www.omim.org/entry/600360","Source__c":"C1838206; MONDO:0010876","Xref__c":"OMIM:600360"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010876","Source__c":"GARD:0000754","Xref__c":"MONDO:0010876"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600360","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001057","HPO_Synonym__c":"Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia","HPO_Name__c":"Aplasia cutis congenita","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600360","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007506","HPO_Synonym__c":"Missing skin on limbs since birth","HPO_Name__c":"Congenital absence of skin of limbs","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["aplasia cutis congenita of limbs, autosomal recessive"," autosomal recessive aplasia cutis congenita of limb"," congenital absence of skin on the upper or lower limbs"," recessive aplasia cutis congenita of the limbs"]}