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inherited ichthyosis

Go to external page 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. [ http://www.ncbi.nlm.nih.gov/pubmed/20643494 MONDO:patterns/hereditary ]

Synonyms: hereditary ichthyosis (disease) congenital ichthyosis of skin inherited genetic ichthyosis genetic ichthyosis

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0856562 (MONDO:equivalentTo)
  • Orphanet:183435 (MONDO:equivalentTo)
  • SCTID:13059002 (MONDO:equivalentTo)
  • ICD9:757.1 (MONDO:i2s)
  • MedDRA:10021202 (Orphanet:183435/e)
  • MEDGEN:797407 (MONDO:equivalentTo)
  • GARD:20261 (MONDO:GARD)
  • NANDO:1200609 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:2100283 (https://orcid.org/0000-0003-0011-764X)
  • ICD10CM:Q80 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, 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

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/Q80

http://identifiers.org/snomedct/13059002

http://linkedlifedata.com/resource/umls/id/C0856562

http://www.orpha.net/ORDO/Orphanet_183435

http://identifiers.org/medgen/797407

has related synonym

congenital ichthyosis

fish scale disease

fish skin

ichthyosis congenita

id

MONDO:0015947

Term relations