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
Term information
- ICD10CM:Q80 (MONDO:equivalentTo)
- MedDRA:10021202 (Orphanet:183435/e)
- GARD:20261 (Orphanet:183435)
- SCTID:13059002 (MONDO:equivalentTo)
- ICD9:757.1 (MONDO:i2s)
- Orphanet:183435 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/2114
https://github.com/monarch-initiative/mondo/issues/4293
http://identifiers.org/snomedct/13059002
http://purl.bioontology.org/ontology/ICD10CM/Q80
http://www.orpha.net/ORDO/Orphanet_183435