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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:Meckel syndrome 7
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Accession:DOID:0070121 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1. (DO)
Synonyms:exact_synonym: Goldston syndrome;   MKS7;   Meckel like syndrome;   Meckel syndrome, type 7;   Meckel-Gruber syndrome, type 7;   renal hepatic pancreatic dysplasia, Dandy Walker cyst;   renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst
 primary_id: MESH:C537756
 alt_id: OMIM:267010;   RDO:0003651
 xref: ORDO:3032
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
OMIM
ClinVar
PMID:12872122, PMID:17855640, PMID:18371931, PMID:20007846, PMID:23188109, PMID:23559409, PMID:24033266, PMID:25741868, PMID:26184788, PMID:26673778, PMID:27894351, PMID:28492532, PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      ciliopathy 236
        Meckel syndrome 30
          Meckel syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            cerebral degeneration 278
              hydrocephalus 124
                Dandy-Walker syndrome 29
                  Dandy Walker Cyst 2
                    Meckel syndrome 7 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.