Hypophosphatemic rickets, autosomal recessive, 2

Preferred Label : Hypophosphatemic rickets, autosomal recessive, 2;

Symbol : ARHR2;

CISMeF acronym : ARHR2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1, 173335.0010);

Laboratory abnormalities : Hypophosphatemia; Elevated plasma alkaline phosphatase; Hyperphosphaturia; Normal vitamin D metabolites; Normal calcium level; Normal calcium excretion; Normal PTH;

Prefixed ID : #613312;

Details

Origin ID

613312;

UMLS CUI

C2750078;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
- ENPP1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- hypophosphatemic rickets, autosomal recessive, 2 [MeSH concept]
- hypophosphatemic rickets, autosomal recessive, 2 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive hypophosphatemic rickets [DO Concept]
Genes related to phenotype
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Coxa valga [HPO term]
- Delayed skeletal maturation [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hyperphosphaturia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Hypoplasia of teeth [HPO term]
- Medullary nephrocalcinosis [HPO term]
- Pulmonic stenosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypophosphatemic rickets, autosomal recessive, 2 [MeSH Supplementary Concept]
- hypophosphatemic rickets, autosomal recessive, 2 [MeSH concept]

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