Ambras syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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. (Orphanet Rare Disease Ontology, Orphanet_1023)
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1 genes/proteins associated with the disease Ambras syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
ITC1 hypertrichosis universalis congenita, Ambras type 2.88009