Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	BART-PUMPHREY SYNDROME
Synonyms	BAPS KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ID	http://purl.bioontology.org/ontology/OMIM/149200
altLabel	BAPS KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
cui	C0266004
Gene Locus	13q11-q12
Gene Symbol	GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	149200
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	BART-PUMPHREY SYNDROME
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/1271009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C537210	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/1271009	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X50Ir	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D4-41410	SNMI	CUI
http://purl.obolibrary.org/obo/MONDO_0007866	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050658	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007866	EFO	LOOM
rgo:29314	GAMUTS	LOOM
http://identifiers.org/omim/149200	REXO	LOOM
http://identifiers.org/omim/149200	GEXO	LOOM
http://identifiers.org/omim/149200	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_0050658	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050658	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050658	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050658	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0007866	DOVES	LOOM
http://purl.obolibrary.org/obo/OMIM_149200	CCO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14683	DERMLEX	LOOM
http://purl.obolibrary.org/obo/DERMO_0000048	DERMO	LOOM