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ZIRC
OBO ID: DOID:0080327
Term Name: multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly Search Ontology:
Synonyms:
  • MARCH
Definition: A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986
References:
Ontology: Human Disease   (DOID:0080327)
OTHER multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None