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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.