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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601331
http://purl.bioontology.org/ontology/OMIM/601331
|
|---|---|
| Preferred Name | RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO |
| Synonyms |
CYSRD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CYSRD
|
|---|---|
| prefLabel | RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
|
| Gene Symbol |
BICC1
CYSRD
BICC
|
| Scope Statement | Susceptibility conferred by mutation in the homolog of the Drosophila bicaudal C gene (BICC1, 614295.0001) [MOLECULAR BASIS]
Onset in utero [MISCELLANEOUS]
Two unrelated patients with confirmed mutations have been reported (as of January 2012) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T033
|
| Gene Locus | 10q21.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 601331
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3275898
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |