Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/300219
http://purl.bioontology.org/ontology/OMIM/300219
Preferred Name

MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT
Type http://www.w3.org/2002/07/owl#Class

All Properties

prefLabel
MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT
Scope Statement
Mild hypotonia and menstrual irregularities in carrier female (1 case) [MISCELLANEOUS]
Fatal in infancy [MISCELLANEOUS]
Contiguous gene deletion syndrome caused by deletion of 230kb on Xq28 [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU073584
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU009719
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU007150
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU037208
http://purl.bioontology.org/ontology/OMIM/MTHU005900
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU003772
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU073582
http://purl.bioontology.org/ontology/OMIM/MTHU073583
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tui
T047
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
300219
Semantic type UMLS property
Has inheritance type
cui
C1846169
OMIM Entry Type
3
OMIM MimType Value
pound
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