Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Preferred Name

Bart-Pumphrey syndrome

Synonyms

BPS

Definitions

(BPS) - An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.

ID

http://identifiers.org/omim/149200

altLabel

BPS

definition

(BPS) - An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.

id

OMIM:149200

notation

OMIM:149200

prefLabel

Bart-Pumphrey syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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