Phenotype Library | Search Phenotypes

Kennedy Disease (MONDO:0010735)

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0010735

Internal:11875

Synonyms

Kennedy disease

Kennedy's disease

SBMA

SMAX1

X-linked BSMA

X-linked bulbospinal amyotrophy

X-linked bulbospinal muscular atrophy

X-linked spinal and bulbar muscular atrophy

spinal and bulbar muscular atrophy of Kennedy, X-linked recessive

spinal and bulbar muscular atrophy, X-linked type 1

Kennedy spinal and bulbar muscular atrophy

bulbospinal muscular atrophy, X-linked

bulbospinal neuronopathy, X-linked recessive

spinal and bulbar muscular atrophy

spinal and bulbar muscular atrophy, X-linked 1

Mapped terms

DOID:0060161

GARD:0006818

MEDGEN:333282

MESH:D055534

MedDRA:10068600

NANDO:1200001

NCIT:C85233

OMIM:313200

Orphanet:481

UMLS:C1839259

Child terms

Unknown children.

Results

Cookie consent