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Ambras type hypertrichosis universalis congenita
Disease Summary
Associated Targets ()
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0007787: Ambras type hypertrichosis universalis congenita
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111060
GARD:0008206
OMIM:145701
Orphanet:1023
UMLS:C1840362
MONDO:0007787
High level summary of knowledge for a disease, including descriptions and datasource references.