Rabson-Mendenhall Syndrome

Preferred Label : Rabson-Mendenhall Syndrome;

Alternative definition : NICHD: An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohue Syndrome.;

Details

Origin ID

C131000;

UMLS CUI

C0271695;

Currated CISMeF NLP mapping
- Pineal hyperplasia AND diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities [OMIM Phenotype]
- Rabson-Mendenhall syndrome [ORDO Disease]
- Rabson-Mendenhall syndrome [MeSH concept]
- Rabson-Mendenhall syndrome [ICD-11 More detail]
- Rabson-Mendenhall syndrome [Disease (Nov.)]
- pineal hyperplasia and diabetes mellitus syndrome [SNOMED Notion]
DO Cross reference
- Donohue syndrome [DO Concept]
See also inter- (CISMeF)
- Donohue syndrome [DO Concept]
- donohue syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pineal hyperplasia AND diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities [OMIM Phenotype]
- Rabson-Mendenhall syndrome [ORDO Disease]
- Rabson-Mendenhall syndrome [MeSH concept]
- Rabson-Mendenhall syndrome [Disease (Nov.)]
- Rabson-Mendenhall syndrome [MedDRA Preferred Term]
- pineal hyperplasia and diabetes mellitus syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- INSR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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