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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
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Accession:DOID:0080327 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MARCH
 primary_id: OMIM:236500


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multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO OMIM NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
paths to the root