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Borjeson-Forssman-Lehmann syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Uniprot Description A X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.
Disease Ontology Description An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
Mondo Term and Equivalent IDs
MONDO:0010537:  Borjeson-Forssman-Lehmann syndrome
GARD:0000936: 
MESH:C536575: 
Orphanet:127: 
SCTID:21634003: 
UMLS:C0265339: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)