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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:Galloway-Mowat Syndrome 8
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Accession:DOID:9005443 term browser browse the term
Definition:Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood. GAMOS8 is caused by homozygous mutation in the NUP133 gene on chromosome 1q42. Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18).
Synonyms:exact_synonym: GAMOS8
 primary_id: MIM:618349

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Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr25:66,710,468...66,777,672 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      Galloway-Mowat syndrome 13
        Galloway-Mowat Syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          monogenic disease 10515
            autosomal genetic disease 10066
              autosomal dominant disease 6519
                complex cortical dysplasia with other brain malformations 1621
                  Malformations of Cortical Development, Group I 1377
                    microcephaly 1132
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat Syndrome 8 1
paths to the root