Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

myostatin-related muscle hypertrophy

Synonyms

MSLHP

Definitions

A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.

ID

http://purl.obolibrary.org/obo/DOID_0111072

database_cross_reference

SNOMEDCT_US_2022_09_01:699185005

UMLS_CUI:C2931112

MESH:C536106

ORDO:275534

GARD:10238

OMIM:614160

definition

A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.

has exact synonym

MSLHP

has_obo_namespace

disease_ontology

id

DOID:0111072

in_subset

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

label

myostatin-related muscle hypertrophy

notation

DOID:0111072

prefLabel

myostatin-related muscle hypertrophy

subClassOf

http://purl.obolibrary.org/obo/DOID_66

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http://purl.bioontology.org/ontology/MESH/C536106 Medical Subject Headings LOOM