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congenital cataract-ichthyosis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008924

Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. [ Orphanet:1376 ]

Term info

database cross reference
  • UMLS:C1859315 (Orphanet:1376/e)
  • MESH:C538281 (Orphanet:1376/e)
  • GARD:0001145 (MONDO:equivalentTo)
  • Orphanet:1376 (OMIM:212400)
  • OMIM:212400 (Orphanet:1376/e)
Subsets

ordo_disease

definition

Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859315, http://identifiers.org/mesh/C538281, https://omim.org/entry/212400

has related synonym

Syndermotic cataract and congenital ichthyosis, cataract and congenital ichthyosis

id

MONDO:0008924

Term relations