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loading...| 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 |
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