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ichthyosis hystrix of Curth-Macklin

Go to external page http://purl.obolibrary.org/obo/MONDO_0007808

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). [ Orphanet:79503 ]

Synonyms: ichthyosis HYSTRIX, Curth-Macklin type ichthyosis histrix, curth-macklin type Ichthyosis Hystrix, Curth Macklin Type ichthyosis hystrix, Curth Macklin type IHCM Curth-Macklin type ichthyosis hystrix ichthyosis hystrix, Curth-Macklin type

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:254170001 (MONDO:equivalentTo)
  • GARD:2954 (MONDO:GARD)
  • OMIM:146590 (Orphanet:79503/e)
  • UMLS:C1840296 (MONDO:equivalentTo)
  • MEDGEN:326700 (MONDO:equivalentTo)
  • Orphanet:79503 (OMIM:146590)
  • NORD:1281 (MONDO:NORD)
  • ICD9:757.39 (MONDO:relatedTo)
  • MESH:C536088 (Orphanet:79503/e)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder

exactMatch

http://identifiers.org/snomedct/254170001

http://www.orpha.net/ORDO/Orphanet_79503

http://identifiers.org/mesh/C536088

https://omim.org/entry/146590

http://linkedlifedata.com/resource/umls/id/C1840296

http://identifiers.org/medgen/326700

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0017266

id

MONDO:0007808

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521