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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 the NPHP3 gene 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
 xref: ORDO:3032


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      ciliopathy 1024
        Meckel syndrome 53
          Meckel syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Cardiovascular Abnormalities 1548
            congenital heart disease 1349
              visceral heterotaxy 112
                situs inversus 68
                  renal-hepatic-pancreatic dysplasia 2
                    Meckel syndrome 7 1
paths to the root