vitamin D-dependent rickets type 1B

Summary
Definition
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.
Super Class
autosomal recessive disease vitamin D-dependent rickets
Disease Ontology
DOID:0080887
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
The Human Phenotype Ontology
Displaying entries 41 - 50 of 60 in total
HPO ID HPO Term
HP:0005469 Flat occiput
HP:0006297 Enamel hypoplasia
HP:0008897 Postnatal growth retardation
HP:0010537 Wide cranial sutures
HP:0010639 Elevated alkaline phosphatase of bone origin
HP:0012052 Low serum calcitriol
HP:0010502 Fibular bowing
HP:0002979 Bowing of the legs
HP:0003593 Infantile onset
HP:0004492 Widely patent fontanelles and sutures
Displaying all 2 entries
Gene ID Gene Symbol Description
120227 CYP2R1 cytochrome P450 family 2 subfamily R member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024