Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Kennedy's disease

Synonyms

SBMA

Kennedy disease

Spinobulbar Muscular Atrophy

spinal bulbar muscular atrophy

X-Linked Bulbo-Spinal Atrophy

X-linked Spinal and Bulbar Muscular Atrophy

Definitions

A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.

ID

http://purl.obolibrary.org/obo/DOID_0060161

created_by

lschriml

creation_date

2011-08-29T01:31:03Z

database_cross_reference

OMIM:313200

SNOMEDCT_US_2016_03_01:230253001

NCI:C85233

UMLS_CUI:C1839259

MESH:D055534

definition

A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.

has_exact_synonym

SBMA

Kennedy disease

Spinobulbar Muscular Atrophy

spinal bulbar muscular atrophy

X-Linked Bulbo-Spinal Atrophy

X-linked Spinal and Bulbar Muscular Atrophy

has_obo_namespace

disease_ontology

id

DOID:0060161

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Kennedy's disease

notation

DOID:0060161

prefLabel

Kennedy's disease

treeView

http://purl.obolibrary.org/obo/DOID_12377

subClassOf

http://purl.obolibrary.org/obo/DOID_12377

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10068600 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_0060161 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060161 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060161 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060161 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060161 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060161 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060161 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060161 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060161 NIFSTD SAME_URI