Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
Synonyms

BART-PUMPHREY SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/149200
altLabel

BART-PUMPHREY SYNDROME
cui

C0266004
Gene Locus

13q11-q12
Gene Symbol

DFNB1A

HID

GJB2

PPK

DFNA3A

KID

CX26
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

149200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
tui

T019
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http://purl.bioontology.org/ontology/MESH/C537210 Medical Subject Headings CUI