JSON

inherited ichthyosis

^ http://purl.obolibrary.org/obo/MONDO_0015947

Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. [ PMID:20643494 MONDO:patterns/hereditary ]

Term info

database cross reference
  • ICD10CM:Q80 (MONDO:equivalentTo)
  • SCTID:13059002 (MONDO:equivalentTo)
  • Orphanet:183435 (MONDO:equivalentTo)
  • MedDRA:10021202 (Orphanet:183435/e)
  • ICD9:757.1 (MONDO:i2s)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2114, https://github.com/monarch-initiative/mondo/issues/4293

closeMatch

http://identifiers.org/meddra/10021202

definition

Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_183435, http://purl.bioontology.org/ontology/ICD10CM/Q80, http://identifiers.org/snomedct/13059002

has exact synonym

hereditary ichthyosis (disease), congenital ichthyosis of skin, inherited genetic ichthyosis, genetic ichthyosis

has related synonym

congenital ichthyosis, fish skin, fish scale disease, ichthyosis congenita

id

MONDO:0015947

Term relations

Equivalent to: