OBO ID: DOID:0090031
Term Name: D-bifunctional protein deficiency Search Ontology:
Synonyms:
Definition: A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (2)
References:
Ontology: Human Disease   ( DOID:0090031 )
Relationships
is a type of:
OTHER D-bifunctional protein deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSD17B4 D-bifunctional protein deficiency 261515
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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