Hypercalcemia, infantile, 2

Preferred Label : Hypercalcemia, infantile, 2;

Symbol : HCINF2;

CISMeF acronym : HCINF2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 34 (type II sodium/phosphate cotransporter) member-1 gene (SLC34A1, 182309.0004);

Prefixed ID : #616963;

Details

Origin ID

616963;

UMLS CUI

C4310473;

CISMeF manual mappings
- Hypercalcemia, infantile, 2 [MeSH concept]
Genes related to phenotype
- Solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Hypotonia [HPO term]
- Medullary nephrocalcinosis [HPO term]
- Nephrocalcinosis [HPO term]
- Polyuria [HPO term]
- Renal phosphate wasting [HPO term]
ORDO concept(s)
- Autosomal recessive infantile hypercalcemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile hypercalcaemia type 2 [MedDRA LLT]
- Infantile hypercalcemia type 2 [MedDRA LLT]

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