{"Name":"Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome","DiseaseID__c":"GARD:0005594","id":5594,"encodedName":"wooly-hair-hypotrichosis-everted-lower-lip-outstanding-ears-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome","Xref_IDs__c":"239023005; C0406718; C536746; MEDGEN:98033; MONDO:0010207; OMIM:278200","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":0,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C0345427","Disease_Description__c":null,"GARD_Name__c":"Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome","GARD_Synonym__c":"salamon syndrome; salamon's syndrome; woolly hair, hypotrichosis, everted lower lip, and outstanding ears","Curated_Disease_Description_Source__c":"MEDGEN:C0345427","Curated_Disease_Description__c":null,"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:0010207","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_Source__c":"MEDGEN:C0345427","GARD_Synonym__c":"salamon syndrome; salamon's syndrome; woolly hair, hypotrichosis, everted lower lip, and outstanding ears","Name":"Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239023005","Source__c":"C0406718; MONDO:0010207","Xref__c":"239023005"},{"URL__c":"https://www.omim.org/entry/278200","Source__c":"C0406718; MONDO:0010207","Xref__c":"OMIM:278200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98033","Source__c":"C0406718","Xref__c":"MEDGEN:98033"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406718","Source__c":"C0406718","Xref__c":"C0406718"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536746","Source__c":"MONDO:0010207","Xref__c":"C536746"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010207","Source__c":"GARD:0005594","Xref__c":"MONDO:0010207"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:278200","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278200","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278200","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:278200","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":{},"synonyms":["salamon syndrome"," salamon's syndrome"," woolly hair, hypotrichosis, everted lower lip, and outstanding ears"]}