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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600081
http://purl.bioontology.org/ontology/OMIM/600081
|
|---|---|
| Preferred Name | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B |
| Synonyms |
PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY
VITAMIN D-DEPENDENT RICKETS, TYPE 1B
VDDR1B
25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY
VITAMIN D-DEPENDENT RICKETS, TYPE 1B
VDDR1B
25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
|
|---|---|
| prefLabel | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
|
| Gene Symbol | CYP2R1
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| Scope Statement | Onset in infancy [MISCELLANEOUS]
Good response to vitamin D treatment [MISCELLANEOUS]
Heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern [MISCELLANEOUS]
Caused by mutations in the vitamin D 25-hydroxylase gene (CYP2R1, 608713.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 11p15.2
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 600081
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1838657
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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 |