Wolcott-Rallison Syndrome

Preferred Label : Wolcott-Rallison Syndrome;

Alternative definition : NICHD: A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable.;

Details

Origin ID

C131007;

UMLS CUI

C0432217;

Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus [OMIM Phenotype]
- Wolcott-Rallison dysplasia (disorder) [SNOMED CT concept]
- Wolcott-Rallison syndrome [DO Concept]
- Wolcott-Rallison syndrome [ORDO Disease]
- Wolcott-Rallison syndrome [MeSH concept]
- Wolcott-Rallison syndrome [MeSH Supplementary Concept]
- Wolcott-Rallison syndrome [PASCAL descriptor]
- Wolcott-Rallison syndrome [ICD-11 More detail]
- Wolcott-Rallison syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus [OMIM Phenotype]
- Wolcott-Rallison dysplasia (disorder) [SNOMED CT concept]
- Wolcott-Rallison syndrome [ORDO Disease]
- Wolcott-Rallison syndrome [PASCAL descriptor]
- Wolcott-Rallison syndrome [DO Concept]
- Wolcott-Rallison syndrome [MeSH Supplementary Concept]
- Wolcott-Rallison syndrome [MeSH concept]
- Wolcott-Rallison syndrome [Disease (Nov.)]
- Wolcott-Rallison syndrome [MedDRA Preferred Term]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- EIF2AK3 Gene [NCIt concept]
related_to_genetic_biomarker
- EIF2AK3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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