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DO Term : Gaucher's disease perinatal lethal [DOID:0110960] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
  • synonyms:
  • ORDO:85212,
  • ICD10CM:E75.2,
  • OMIM:608013,
  • 608013,
  • Fetal Gaucher Disease,
  • Gaucher Disease, Collodion Type
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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





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