Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Keratosis palmoplantaris with periodontopathia and onychogryposis
Synonyms	Haim-Munk syndrome Cochin Jewish disorder
ID	http://purl.bioontology.org/ontology/MESH/C537627
altLabel	Haim-Munk syndrome Cochin Jewish disorder
cui	C1855627
HM	D010214 D030981
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D030981 http://purl.bioontology.org/ontology/MESH/D010214
MDA	20100825
MeSH Frequency	4
MMR	20121105
notation	C537627
prefLabel	Keratosis palmoplantaris with periodontopathia and onychogryposis
SC	3
Scope Statement	Rare autosomal recessive disorder characterized by congenital PALMOPLANTAR KERATOSIS, flatfoot, onychogryphosis, PERIODONTITIS, ARACHNODACTYLY, and ACROOSTEOLYSIS.
TERMUI	T743210 T743211 T743212
TH	OMIM (2013) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/719973009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/719973009	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/245010	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/602365	OMIM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537627	RH-MESH	LOOM