Dent Disease - CISMeF

Preferred Label : Dent Disease;

NCIt synonyms : X-Linked Recessive Hypophosphatemic Rickets;

NCIt definition : An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.;

Alternative definition : NICHD: Hypophosphatemic rickets due to mutation(s) in the X-chromosomal CLCN5 gene, encoding H( )/Cl(-) exchange transporter 5. This condition is expressed in male individuals hemizygous for the mutation(s), and in female individuals homozygous for the mutation(s). The disorder of the proximal renal tubules is characterized by low-molecular weight proteinuria, hypercalciuria, renal phosphate wasting, nephrocalcinosis, nephrolithiasis, progressive kidney failure, and elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.;

Details

Origin ID

C123260;

UMLS CUI

C0878681;

Automatic exact mappings (from CISMeF team)
- Hypophosphatemic rickets, X-linked recessive [OMIM Phenotype]
- Tooth disorder (disorder) [SNOMED CT concept]
- X-linked recessive hypophosphatemic rickets [DO Concept]
- chloride voltage-gated channel 5 [ORDO Gene]
- chloride voltage-gated channel 5 [HGNC gene]
- disease of teeth, nos [SNOMED Notion]
- familial hypophosphatemic rickets [MeSH Descriptor]
- hypophosphatemic rickets, X-Linked recessive [MeSH concept]
- tooth diseases [MeSH concept]
- tooth diseases [MeSH Descriptor]
- tooth disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Dent disease [DO Concept]
- Dent disease [ICD-11 More detail]
- Dent disease [ORDO Disease]
- Dent disease [OMIM phenotypic series]
- Dent's disease [MedDRA Preferred Term]
- Dent's disease (disorder) [SNOMED CT concept]
- Dents disease [Disease (Nov.)]
- dent disease [MeSH Descriptor]
- dent disease [MeSH concept]
DO Cross reference
- Dent disease [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dent disease [ORDO Disease]
- Dent disease [DO Concept]
- Dent disease [ICD-11 More detail]
- Dent's disease [MedDRA Preferred Term]
- Dent's disease (disorder) [SNOMED CT concept]
- Dents disease [Disease (Nov.)]
- dent disease [MeSH Descriptor]
- dent disease [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
related_to_genetic_biomarker
- CLCN5 Gene [NCIt concept]
- OCRL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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