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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/303110
http://purl.bioontology.org/ontology/OMIM/303110
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Preferred Name | CHROMOSOME Xq21 DELETION SYNDROME |
Synonyms |
CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel | CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION
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prefLabel | CHROMOSOME Xq21 DELETION SYNDROME
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Gene Symbol |
DELXq21
CXDELq21
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notation | 303110
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Scope Statement | Contiguous gene syndrome caused by deletion of chromosome Xq21 including at least the Rab escort protein 1 gene (CHM, 300390) and the POU domain, class 3, transcription factor 4 gene (POU3F4, 300039) [MOLECULAR BASIS]
Female carriers may have mild hearing impairment and/or mild signs of choroideremia [MISCELLANEOUS]
Leakage of fluid ('gusher') if the stapes is disturbed [MISCELLANEOUS]
Contiguous gene deletion syndrome [MISCELLANEOUS]
Onset of choroideremia in second to third decade [MISCELLANEOUS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | Xq21
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tui | T047
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cui | C3551019
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