Hyperphosphatemic Familial Tumoral Calcinosis

Preferred Label : Hyperphosphatemic Familial Tumoral Calcinosis;

NCIt definition : An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone.;

Détails

Origin ID

C131851;

UMLS CUI

C1876187;

Currated CISMeF NLP mapping
- Hyperphosphataemic familial tumoural calcinosis [ICD-11 More detail]
- Hyperphosphatemic familial tumoral calcinosis (disorder) [SNOMED CT concept]
- Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM Phenotype]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH Supplementary Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphosphatemic familial tumoral calcinosis (disorder) [SNOMED CT concept]
- Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM Phenotype]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH Supplementary Concept]
- tumoral calcinosis, hyperphosphatemic, familial [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- FGF23 Gene [NCIt concept]
- GALNT3 Gene [NCIt concept]
- KL Gene [NCIt concept]

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