Preferred Label : Donohue Syndrome;
NCIt related terms : Leprechaunism;
NCIt definition : A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor
gene. Signs and symptoms include a characteristic facial appearance (protuberant and
low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation,
insulin resistance, and enlarged genitalia.;
Alternative definition : NICHD: An autosomal recessive condition caused by mutation(s) in the INSR gene encoding
the insulin receptor, and characterized by the following: insulin resistance; prenatal
growth restriction and small for gestational age birth; small, elfin-like facies with
protuberant ears; postnatal failure to thrive; relatively large hands, feet, and genitalia;
muscle atrophy; and hypertrichosis. The condition is typically diagnosed early in
life, with death usually occurring before age two years. The symptoms and course of
this syndrome are the most severe as compared to the other two syndromes on the spectrum:
Insulin Resistant Diabetes Mellitus with Acanthosis Nigerians and Hyperandrogenism
and Rapson-Mendenhall Syndrome.;
Origin ID : C84676;
UMLS CUI : C0265344;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_finding
- disease_mapped_to_gene
