{"Name":"Ambras type hypertrichosis universalis congenita","DiseaseID__c":"GARD:0008206","id":8206,"encodedName":"ambras-type-hypertrichosis-universalis-congenita","IsDeleted":false,"Disease_Name_Full__c":"Ambras type hypertrichosis universalis congenita","Xref_IDs__c":"C1840362; DOID:0111060; MEDGEN:333542; MONDO:0007787; OMIM:145701; ORPHA:1023","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":1,"Description_Source__c":"MONDO:0007787","Disease_Description__c":"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.","GARD_Name__c":"Ambras type hypertrichosis universalis congenita","GARD_Synonym__c":"ambras syndrome; congenital generalized hypertrichosis, ambras type; htc1","Curated_Disease_Description_Source__c":"GARD:0008206","Curated_Disease_Description__c":"Congenital generalized hypertrichosis, Ambras type is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Congenital generalized hypertrichosis, Ambras type have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Congenital generalized hypertrichosis, Ambras type has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1023","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007787","ORPHANET_ID__c":"ORPHA:1023","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertricosis congénita generalizada tipo ambras","Spanish_Description_Source__c":"ORPHA:1023","Spanish_Description__c":"La hipertricosis generalizada congénita tipo Ambras es un tipo extremadamente poco frecuente de hipertricosis lanuginosa congénita, una enfermedad congénita de la piel, que se caracteriza por la presencia de pelo tipo vello en todo el cuerpo, especialmente en cara, orejas y hombros, con excepción de palmas, plantas de los pies y membranas mucosas. También pueden observarse anomalías faciales y dentales, como cara triangular y gruesa, punta nasal bulbosa, fisuras palpebrales largas, retraso en la erupción dental y ausencia de dientes.","Spanish_Disease_Name__c":"hipertricosis congénita generalizada tipo ambras","Spanish_GARD_Synonym__c":"síndrome de ambras","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":"Congenital generalized hypertrichosis, Ambras type is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Congenital generalized hypertrichosis, Ambras type have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders. Facial and dental abnormalities may also be present. Congenital generalized hypertrichosis, Ambras type has been mapped to the short (q) arm of chromosome 8. It appears to follow an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0008206","GARD_Synonym__c":"ambras syndrome; congenital generalized hypertrichosis, ambras type; htc1","Name":"Ambras type hypertrichosis universalis congenita","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1023"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111060","Source__c":"MONDO:0007787","Xref__c":"DOID:0111060"},{"URL__c":"https://www.omim.org/entry/145701","Source__c":"C1840362; MONDO:0007787; ORPHA:1023","Xref__c":"OMIM:145701"},{"URL__c":"https://www.orpha.net/en/disease/detail/1023","Source__c":"C1840362; MONDO:0007787; ORPHA:1023","Xref__c":"ORPHA:1023"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840362","Source__c":"C1840362","Xref__c":"C1840362"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333542","Source__c":"C1840362","Xref__c":"MEDGEN:333542"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007787","Source__c":"GARD:0008206","Xref__c":"MONDO:0007787"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:145701","Feature__r":{"HPO_Description__c":"A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004540","HPO_Synonym__c":"Congenital generalized hypertrichosis; Hypertrichosis universalis","HPO_Name__c":"Congenital, generalized hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["ambras syndrome"," congenital generalized hypertrichosis, ambras type"," htc1"]}