Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/600785
http://purl.bioontology.org/ontology/OMIM/600785
Preferred Name

VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR
Synonyms
VDDR2B
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
VDDR2B
prefLabel
VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR
Scope Statement
Early-onset [MISCELLANEOUS]
Based on 2 families described with no mutations in the vitamin D receptor gene (VDR, 601769) [MISCELLANEOUS]
Responsive to treatment [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU037545
http://purl.bioontology.org/ontology/OMIM/MTHU036686
http://purl.bioontology.org/ontology/OMIM/MTHU036368
http://purl.bioontology.org/ontology/OMIM/MTHU006328
http://purl.bioontology.org/ontology/OMIM/MTHU006333
http://purl.bioontology.org/ontology/OMIM/MTHU006331
http://purl.bioontology.org/ontology/OMIM/MTHU006323
http://purl.bioontology.org/ontology/OMIM/MTHU006330
http://purl.bioontology.org/ontology/OMIM/MTHU006334
http://purl.bioontology.org/ontology/OMIM/MTHU036874
http://purl.bioontology.org/ontology/OMIM/MTHU006326
http://purl.bioontology.org/ontology/OMIM/MTHU006325
http://purl.bioontology.org/ontology/OMIM/MTHU068247
http://purl.bioontology.org/ontology/OMIM/MTHU006327
http://purl.bioontology.org/ontology/OMIM/MTHU006324
http://purl.bioontology.org/ontology/OMIM/MTHU006329
http://purl.bioontology.org/ontology/OMIM/MTHU006338
http://purl.bioontology.org/ontology/OMIM/MTHU006335
http://purl.bioontology.org/ontology/OMIM/MTHU006337
http://purl.bioontology.org/ontology/OMIM/MTHU006336
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tui
T047
MIMTYPEMEANING
Mendelian phenotype or locus, molecular basis unknown.
notation
600785
Semantic type UMLS property
Has inheritance type
cui
C2748783
OMIM Entry Type
5
OMIM MimType Value
perc
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