Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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
 broad_synonym: CEP55-related condition
 xref: MIM:236500;   MONDO:0009359;   NCI:C206523


show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: CEP55-related condition OMIM
ClinVar		 PMID:25741868 PMID:28264986 PMID:28295209 PMID:28492532 PMID:30622327 More... NCBI chr 1:245,245,272...245,260,835
Ensembl chr 1:245,245,306...245,260,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          monogenic disease 10875
            autosomal genetic disease 10343
              autosomal recessive disease 7133
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
paths to the root