Hyperparathyroidism-Jaw Tumor Syndrome

Preferred Label : Hyperparathyroidism-Jaw Tumor Syndrome;

NCIt synonyms : HPT-JT; HPTJT; Hyperparathyroidism Jaw Tumor Syndrome;

NCIt related terms : Hyperparathyroidism-2;

NCIt definition : An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.;

Alternative definition : NICHD: An autosomal dominant condition that may be associated with mutation(s) in the CDC73 gene, encoding cell division cycle protein 73 homolog. The condition is characterized by hyperfunctioning parathyroid adenomas and fibro-osseous tumors of the maxilla and mandible. This condition may also be associated with parathyroid carcinoma, Wilms tumor, and Hurthle cell thyroid adenomas.;

Details

Origin ID

C48287;

UMLS CUI

C1704981;

Currated CISMeF NLP mapping
- Hyperparathyroidism - jaw tumour syndrome [ICD-11 More detail]
- Hyperparathyroidism 2 with jaw tumors [OMIM Phenotype]
- Hyperparathyroidism-jaw tumor syndrome [ORDO Disease]
- Hyperparathyroidism-jaw tumor syndrome (disorder) [SNOMED CT concept]
- hyperparathyroidism 2 [MeSH Supplementary Concept]
- hyperparathyroidism 2 [MeSH concept]
- hyperparathyroidism jaw tumor syndrome [Disease (Nov.)]
Disease may have findings
- Kidney Cyst [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperparathyroidism 2 with jaw tumors [OMIM Phenotype]
- Hyperparathyroidism-jaw tumor syndrome [ORDO Disease]
- Hyperparathyroidism-jaw tumor syndrome (disorder) [SNOMED CT concept]
- hyperparathyroidism 2 [MeSH Supplementary Concept]
- hyperparathyroidism 2 [MeSH concept]
- hyperparathyroidism jaw tumor syndrome [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_disease
- Primary Hyperparathyroidism [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- CDC73 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- CDC73 Gene [NCIt concept]
disease_may_have_associated_disease
- Papillary Renal Cell Carcinoma [NCIt concept]
- Parathyroid Gland Adenoma [NCIt concept]
- Parathyroid Gland Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDC73 Gene [NCIt concept]
- CDC73 wt Allele [NCIt concept]
related_to_genetic_biomarker
- CDC73 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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