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Disease Ontology Browser
Borjeson-Forssman-Lehmann syndrome (DOID:0050681)
Alliance: disease page
Synonyms: BFLS; BORJ; Borjeson syndrome; intellectual deficiency-epilepsy-endocrine disorders syndrome; mental retardation, epilepsy, and endocrine disorder; MRXSBFL; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
Alt IDs: OMIM:301900, MESH:C536575, NCI:C157122, ORDO:127, UMLS_CUI:C0265339
Definition: 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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory