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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:Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
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Accession:DOID:9008819 term browser browse the term
Definition:A disease characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay. Caused by homozygous mutation in the MANF gene on chromosome 3p21.
Synonyms:exact_synonym: DDDS
 primary_id: OMIM:620651

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Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:26077850 PMID:33500254 NCBI chrNW_004624730:5,165,169...5,168,240
Ensembl chrNW_004624730:5,165,200...5,168,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    physical disorder 4599
      congenital nervous system abnormality 1411
        microcephaly 1088
          Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14089
    Developmental Disease 12291
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11532
        genetic disease 11224
          monogenic disease 9420
            autosomal genetic disease 8753
              autosomal dominant disease 5776
                complex cortical dysplasia with other brain malformations 1520
                  Malformations of Cortical Development, Group I 1315
                    microcephaly 1088
                      Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
paths to the root