vitamin D-dependent rickets, type 2B

Summary

vitamin D-dependent rickets, type 2B (MONDO:0010931) is a disease and 1 clinical trial. A subtype of vitamin D-dependent rickets, type 2 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vitamin D-dependent rickets, type 2B
Mondo ID	MONDO:0010931
OMIM	600785
DOID	DOID:0080885
NCIT	C131076
SNOMED CT	237895001
UMLS	C2748783
MedGen	411667
GARD	0018170
Is cancer (heuristic)	no

Also known as: hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia · VDDR2B · vitamin D dependent rickets 2b · vitamin D receptor signaling defect rickets · vitamin D receptor signalling defect rickets · vitamin D resistant rickets · vitamin D-dependent rickets type II without alopecia · vitamin D-dependent rickets, type 2B, with normal vitamin D receptor

Disease family

This is a subtype of vitamin D-dependent rickets, type 2. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone remodeling disease › rickets › hypocalcemic rickets › vitamin D-dependent rickets, type 2 › vitamin D-dependent rickets, type 2B

Related subtypes (1): vitamin D-dependent rickets, type 2A

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01578824	Not specified	COMPLETED	Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients