Hypophosphatemic rickets and hyperparathyroidism

Preferred Label : Hypophosphatemic rickets and hyperparathyroidism;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of hypophosphatemic rickets, see (193100).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Hypophosphatemia; Hypercalcemia; Elevated serum parathyroid hormone (PTH); Translocation of chromosomes 9 and 13;

Prefixed ID : %612089;

Details

Origin ID

612089;

UMLS CUI

C2677524;

Currated CISMeF NLP mapping
- hypophosphatemic rickets and hyperparathyroidism [MeSH concept]
- hypophosphatemic rickets and hyperparathyroidism [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Chiari type I malformation [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Frontal bossing [HPO term]
- Hypercalcemia [HPO term]
- Hyperparathyroidism [HPO term]
- Hypophosphatemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Macrocephaly [HPO term]
- Parathyroid hyperplasia [HPO term]
- Rachitic rosary [HPO term]
- Renal phosphate wasting [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypophosphatemic rickets and hyperparathyroidism [MeSH Supplementary Concept]
- hypophosphatemic rickets and hyperparathyroidism [MeSH concept]

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