Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/254000
http://purl.bioontology.org/ontology/OMIM/254000
Preferred Name

MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM
Type http://www.w3.org/2002/07/owl#Class

All Properties

prefLabel
MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM
type
Has manifestation
tui
T047
MIMTYPEMEANING
Other, mainly phenotypes with suspected mendelian basis
notation
254000
Semantic type UMLS property
Has inheritance type
cui
C1850864
OMIM Entry Type
0
OMIM MimType Value
none
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