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Metadata
ID DOID:0110960
Name Gaucher's disease perinatal lethal
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/12838552, https://www.ncbi.nlm.nih.gov/pubmed/1437405
Xrefs

ICD10CM:E75.2

OMIM:608013

ORDO:85212

Subsets

DO_rare_slim

Synonyms

Fetal Gaucher Disease [EXACT]

Gaucher Disease, Collodion Type [EXACT]

Parent Relationships

is_a Gaucher's disease

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