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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/266920
http://purl.bioontology.org/ontology/OMIM/266920
|
|---|---|
| Preferred Name | SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY |
| Synonyms |
SRTD9
RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA
MAINZER-SALDINO SYNDROME
MZSDS
CONORENAL SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SRTD9
RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA
MAINZER-SALDINO SYNDROME
MZSDS
CONORENAL SYNDROME
|
|---|---|
| prefLabel | SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
|
| Gene Symbol |
CED5
SRTD9
IFT140
MZSDS
KIAA0590
RP80
PKD9
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|
| Scope Statement | Variable manifestations [MISCELLANEOUS]
Caused by mutation in the intraflagellar transport 140 gene (IFT140, 614620.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 266920
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1849437
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |