ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:7240710

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  disease 14875
    syndrome 4220
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.