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myostatin-related muscle hypertrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0013598

Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. [ https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy ]

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Term information

database cross reference
Subsets

gard_rare, ordo_disease

abbreviation
MSLHP [ MONDO : Lexical https://omim.org/entry/614160 DOID : 0111072 ]
definition
  • Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.
exactMatch
  • https://omim.org/entry/614160
  • http://www.orpha.net/ORDO/Orphanet_275534
  • http://purl.obolibrary.org/obo/DOID_0111072
  • http://identifiers.org/mesh/C536106
  • http://identifiers.org/snomedct/699185005
has related synonym
  • muscle hypertrophy
id
  • MONDO:0013598
seeAlso
  • https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy