Vitamin D-dependent rickets, type 3

Preferred Label : Vitamin D-dependent rickets, type 3;

Symbol : VDDR3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619073;

Details

Origin ID

619073;

UMLS CUI

C5436733;

Genes related to phenotype
- Cytochrome p450, subfamily iiia, polypeptide 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the legs [HPO term]
- Childhood onset [HPO term]
- Decreased circulating calcifediol concentration [HPO term]
- Delayed ability to walk [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Flared metaphysis [HPO term]
- Genu varum [HPO term]
- Growth delay [HPO term]
- Hypocalcemia [HPO term]
- Hypophosphatemia [HPO term]
- Low serum calcitriol [HPO term]
- Metaphyseal cupping [HPO term]
- Osteopenia [HPO term]
ORDO concept(s)
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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