OBO ID: DOID:0060793
Term Name: hypomyelinating leukodystrophy 5 Search Ontology:
Synonyms:
  • HLD5
  • hypomyelination-congenital cataract syndrome
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (2)
References:
Ontology: Human Disease   ( DOID:0060793 )
Relationships
is a type of:
OTHER hypomyelinating leukodystrophy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FAM126A Leukodystrophy, hypomyelinating, 5 610532
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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