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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: CEP55-RELATED CONDITION;   MARCH
 primary_id: MIM:236500
 xref: NCI:C206523

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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 N Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chrNW_004624737:4,718,904...4,741,317
Ensembl chrNW_004624737:4,718,883...4,740,489 		JBrowse link
G G CEP55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr 9:86,746,658...86,772,052
Ensembl chr 9:86,749,730...86,771,115 		JBrowse link
G P CEP55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr14:104,957,256...104,980,690
Ensembl chr14:104,957,311...104,980,689 		JBrowse link
G S Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chrNW_004936601:1,455,641...1,474,045
Ensembl chrNW_004936601:1,455,641...1,474,045 		JBrowse link
G D CEP55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr28:7,754,934...7,777,662
Ensembl chr28:7,754,964...7,778,481 		JBrowse link
G B CEP55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr10:90,239,770...90,275,156
Ensembl chr10:93,750,177...93,784,890 		JBrowse link
G C Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chrNW_004955507:2,384...25,105
Ensembl chrNW_004955507:2,296...26,911 		JBrowse link
G R Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G M Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr19:38,043,423...38,062,873
Ensembl chr19:38,043,459...38,062,871 		JBrowse link
G H CEP55 centrosomal protein 55 IAGP ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 238296
    syndrome 123036
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 10
Path 2
Term Annotations click to browse term
  disease 238296
    Developmental Disease 156321
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 141801
        genetic disease 137619
          monogenic disease 114217
            autosomal genetic disease 108893
              autosomal recessive disease 72013
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 10
paths to the root