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Rabson-Mendenhall syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).
Uniprot Description Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009874:  Rabson-Mendenhall syndrome
GARD:0000226: 
NCIT:C131000: 
Orphanet:769: 
SCTID:33559001: 
UMLS:C0271695: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found