Search Ontology:
Human Disease

glycosylphosphatidylinositol biosynthesis defect 16

Term ID
DOID:0081223
Synonyms
  • Intellectual developmental disorder, autosomal recessive 62
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/27694521/
References
Ontology
Human Disease   ( DOID:0081223 )
Relationships
is a type of
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Genes Involved
Zebrafish Models