|  Help  |  About  |  Contact Us

DO Term : Borjeson-Forssman-Lehmann syndrome [DOID:0050681] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • intellectual deficiency-epilepsy-endocrine disorders syndrome,
  • OMIM:301900,
  • BFLS,
  • BORJ,
  • MESH:C536575,
  • ORDO:127,
  • NCI:C157122,
  • Borjeson syndrome,
  • syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type,
  • MRXSBFL,
  • mental retardation, epilepsy, and endocrine disorder,
  • UMLS_CUI:C0265339,
  • SNOMEDCT_US_2023_03_01:21634003,
  • 301900,
  • GARD:936
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents