Mulibrey Nanism

Preferred Label : Mulibrey Nanism;

NCIt synonyms : Perheentupa Syndrome;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.;

Alternative definition : NICHD: An autosomal recessive disorder caused by mutation(s) in the TRIM37 gene, encoding E3 ubiquitin-protein ligase TRIM37. Mulibrey is a contraction of muscle, liver, brain, and eyes. Nanism is a synonym for dwarfism. This condition is associated with characteristic facial features, including hypertelorism, pubertal delay, occasional progressive cardiomyopathy, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor.;

Détails

Origin ID

C84906;

UMLS CUI

C0524582;

Automatic exact mappings (from CISMeF team)
- MULIBREY nanism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Mulibrey dwarfism [PASCAL descriptor]
- Mulibrey nanism [OMIM Phenotype]
- Mulibrey nanism [ORDO Disease]
- Mulibrey nanism syndrome (disorder) [SNOMED CT concept]
- Pericardial constriction with growth failure [MeSH concept]
- mulibrey nanism [DO Concept]
- mulibrey nanism [MeSH Descriptor]
- mulibrey nanism [MeSH concept]
- mulibrey nanism syndrome [SNOMED Notion]
- pericardial constriction with growth failure [MeSH Supplementary Concept]
DO Cross reference
- mulibrey nanism [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mulibrey dwarfism [PASCAL descriptor]
- Mulibrey nanism [OMIM Phenotype]
- Mulibrey nanism syndrome (disorder) [SNOMED CT concept]
- mulibrey nanism [DO Concept]
- mulibrey nanism [MeSH Descriptor]
- mulibrey nanism [MeSH concept]
- mulibrey nanism syndrome [SNOMED Notion]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TRIM37 Gene [NCIt concept]
related_to_genetic_biomarker
- TRIM37 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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