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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: MIM: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 chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital nervous system abnormality 1542
        microcephaly 1150
          Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1647
                  Malformations of Cortical Development, Group I 1402
                    microcephaly 1150
                      Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome 1
paths to the root