You are using an outdated browser. Please upgrade your browser to improve your experience.

neonatal ichthyosis-sclerosing cholangitis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
Uniprot Description A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization.
Mondo Term and Equivalent IDs
MONDO:0011874:  neonatal ichthyosis-sclerosing cholangitis syndrome
GARD:0010583: 
MESH:C564365: 
Orphanet:59303: 
SCTID:724278007: 
UMLS:C1843355: