Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/277440
http://purl.bioontology.org/ontology/OMIM/277440
|
|---|---|
| Preferred Name | VITAMIN D-DEPENDENT RICKETS, TYPE 2A |
| Synonyms |
HVDRR
GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D
VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
RICKETS, HEREDITARY VITAMIN D-RESISTANT
PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA
PDDR IIA
VDDR2A
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
RICKETS-ALOPECIA SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HVDRR
GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D
VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
RICKETS, HEREDITARY VITAMIN D-RESISTANT
PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA
PDDR IIA
VDDR2A
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
RICKETS-ALOPECIA SYNDROME
See more
See less
|
|---|---|
| prefLabel | VITAMIN D-DEPENDENT RICKETS, TYPE 2A
|
| Gene Symbol | VDR
|
| Scope Statement | Caused by mutations in the vitamin D receptor gene (VDR, 601769.0001) [MOLECULAR BASIS]
Onset within first 6 months of life [MISCELLANEOUS]
Some patients can be treated with large doses of vitamin D and calcium [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 12q12-q14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 277440
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0342646
C3536983
|
| Moved from | 277420
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |