Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/301149 http://purl.bioontology.org/ontology/OMIM/301149
Preferred Name	RETINAL DYSTROPHY, X-LINKED, GARDNER-HARDCASTLE TYPE
Synonyms	RDXGH
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RDXGH
prefLabel	RETINAL DYSTROPHY, X-LINKED, GARDNER-HARDCASTLE TYPE
Gene Symbol	RDXGH
Scope Statement	Onset in early childhood [MISCELLANEOUS] Most female carriers are unaffected [MISCELLANEOUS] Slowly progressive retinal degeneration [MISCELLANEOUS] Some female carriers may exhibit a milder phenotype [MISCELLANEOUS] Caused by interchromosomal insertions at Xq27.1 [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079483 http://purl.bioontology.org/ontology/OMIM/MTHU012837 http://purl.bioontology.org/ontology/OMIM/MTHU079482 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU079481 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU079485 http://purl.bioontology.org/ontology/OMIM/MTHU079480 http://purl.bioontology.org/ontology/OMIM/MTHU079479 http://purl.bioontology.org/ontology/OMIM/MTHU023711 http://purl.bioontology.org/ontology/OMIM/MTHU079484 See more See less
tui	T047
Gene Locus	Xq27
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	301149
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C6012691
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display