Preferred Name |
MUSCLE HYPERTROPHY |
Synonyms |
MSLHP |
ID |
http://purl.bioontology.org/ontology/OMIM/614160 |
altLabel |
MSLHP |
cui |
C0236033 |
Gene Locus |
2q32.2 |
Gene Symbol |
GDF8 MSLHP MSTN |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU017404 http://purl.bioontology.org/ontology/OMIM/MTHU073805 http://purl.bioontology.org/ontology/OMIM/MTHU073803 http://purl.bioontology.org/ontology/OMIM/MTHU010808 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
614160 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
MUSCLE HYPERTROPHY |
Scope Statement |
Based on a report of one patient (last curated August 2021) [MISCELLANEOUS] Caused by mutation in the myostatin gene (MSTN, 601788.0001) [MOLECULAR BASIS] Myoclonus in neonatal period [MISCELLANEOUS] |
tui |
T042 |