OBO ID: DOID:0111865
Term Name: MEND syndrome Search Ontology:
Synonyms:
  • male EBP disorder with neurological defects
Definition: A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. (2)
References:
Ontology: Human Disease   ( DOID:0111865 )
Relationships
is a type of:
OTHER MEND syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EBP MEND syndrome 300960
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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