epidermolytic palmoplantar keratoderma, 1
Go to external page http://purl.obolibrary.org/obo/MONDO_0007758
A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. [ NCIT:C84693 ]
Synonyms: diffuse erythrodermic palmoplantar keratoderma, Voerner type epidermolytic palmoplantar keratoderma of VC6rner epidermolytic palmoplantar keratoderma of Voerner EPPK diffuse erythrodermic palmoplantar keratoderma, VC6rner type
Term information
- SCTID:399955009 (MONDO:equivalentTo)
- ICD9:757.39 (MONDO:relatedTo)
- NCIT:C84693 (MONDO:equivalentTo)
- Orphanet:2199 (OMIM:144200)
- OMIM:144200 (Orphanet:2199/e)
- GARD:2826 (MONDO:GARD)
- DOID:0070552 (MONDO:equivalentTo)
ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder
http://purl.obolibrary.org/obo/DOID_0070552
https://omim.org/entry/144200
http://identifiers.org/snomedct/399955009
http://purl.obolibrary.org/obo/NCIT_C84693
http://www.orpha.net/ORDO/Orphanet_2199
palmoplantar keratoderma, Vorner type
hyperkeratosis, localised epidermolytic
keratosis palmaris Et plantaris Familiaris
keratoderma, epidermolytic palmoplantar
tylosis
hyperkeratosis, localized epidermolytic
epidermolytic palmoplantar keratoderma of Vörner
hyperkeratosis palmoplantar localized epidermolytic
palmoplantar keratoderma, epidermolytic, with knuckle pads
hyperkeratosis palmoplantar localised epidermolytic
keratosis of Greither
palmoplantar keratoderma, epidermolytic
diffuse erythrodermic palmoplantar keratoderma, Vörner type
Ppke