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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 13
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Accession:DOID:0080253 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. (DO)
Synonyms:exact_synonym: MKS13;   Meckel syndrome, type 13
 primary_id: OMIM:617562
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel syndrome 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL SYNDROME 13 ClinVar
OMIM
PMID:26123494, PMID:26595381 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    physical disorder 996
      polydactyly 129
        Meckel syndrome 13 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Encephalocele 19
                    Meckel syndrome 13 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.