Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Vohwinkel syndrome
Synonyms	Palmoplantar Keratoderma Mutilans
ID	http://purl.bioontology.org/ontology/MESH/C536457
altLabel	Palmoplantar Keratoderma Mutilans Palmoplantar Keratoderma Mutilans Vohwinkel Ppk Mutilans Vohwinkel Mutilating keratoderma Congenital Deafness with Keratopachydermia and Constrictions of Fingers and Toes Keratoderma hereditarium mutilans
cui	C0265964
HM	D000015 D006319 D007645 D006228
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D006319 http://purl.bioontology.org/ontology/MESH/D006228 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D007645
MDA	20100825
MeSH Frequency	12
MMR	20131024
notation	C536457
prefLabel	Vohwinkel syndrome
SC	3
Scope Statement	Deafness, congenital, with keratopachydermia and constrictions of fingers and toes
TERMUI	T739404 T842670 T842667 T739402 T842669 T739405 T842668
TH	ORD (2010) OMIM (2013) GHR (2014)
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/124500	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/124500	Online Mendelian Inheritance in Man	LOOM
http://purl.obolibrary.org/obo/DOID_0111339	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/OMIM/121011	Online Mendelian Inheritance in Man	CUI