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.;
Origin ID : C84906;
UMLS CUI : C0524582;
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
related_to_genetic_biomarker