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
- NANDO:2100283 (https://orcid.org/0000-0003-0011-764X)
- ICD9:757.1 (MONDO:i2s)
- NANDO:1200609 (https://orcid.org/0000-0003-0011-764X)
- Orphanet:183435 (MONDO:equivalentTo)
- ICD10CM:Q80 (MONDO:equivalentTo)
- MedDRA:10021202 (Orphanet:183435/e)
- SCTID:13059002 (MONDO:equivalentTo)
- GARD:20261 (MONDO:GARD)
- MEDGEN:797407 (MONDO:equivalentTo)
- UMLS:C0856562 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_integumentary_system_disorder
http://identifiers.org/snomedct/13059002
http://purl.bioontology.org/ontology/ICD10CM/Q80
http://linkedlifedata.com/resource/umls/id/C0856562
http://www.orpha.net/ORDO/Orphanet_183435
http://identifiers.org/medgen/797407
https://github.com/monarch-initiative/mondo/issues/2114
https://github.com/monarch-initiative/mondo/issues/4293