Tumoral calcinosis, normophosphatemic, familial

Preferred Label : Tumoral calcinosis, normophosphatemic, familial;

Symbol : NFTC;

CISMeF acronym : NFTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Calcinosis, tumoral, with normophosphatemia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sterile alpha motif domain-containing protein-9 gene (SAMD9, 610456.0001).;

Laboratory abnormalities : Normal serum phosphate;

Prefixed ID : #610455;

Details

Origin ID

610455;

UMLS CUI

C1864861;

Automatic exact mappings (from CISMeF team)
- Familial tumoral calcinosis [ORDO Disease]
- SAMD9 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Familial normophosphatemic tumoral calcinosis [ORDO Disease]
- Familial normophosphatemic tumoral calcinosis (disorder) [SNOMED CT concept]
- normophosphatemic familial tumoral calcinosis [DO Concept]
- tumoral calcinosis, normophosphatemic, familial [MeSH concept]
- tumoral calcinosis, normophosphatemic, familial [MeSH Supplementary Concept]
DO Cross reference
- normophosphatemic familial tumoral calcinosis [DO Concept]
Genes related to phenotype
- Sterile alpha motif domain-containing protein 9 [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcinosis [HPO term]
- Conjunctivitis [HPO term]
- Gingivitis [HPO term]
- Histological abnormality of the skin [HPO term]
Not associated HPO term(s)
- Abnormal blood phosphate concentration [HPO term]
ORDO concept(s)
- Familial normophosphatemic tumoral calcinosis [ORDO Disease]
- Familial tumoral calcinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial normophosphatemic tumoral calcinosis [ORDO Disease]
- Familial normophosphatemic tumoral calcinosis (disorder) [SNOMED CT concept]
- normophosphatemic familial tumoral calcinosis [DO Concept]
- tumoral calcinosis, normophosphatemic, familial [MeSH Supplementary Concept]
- tumoral calcinosis, normophosphatemic, familial [MeSH concept]

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