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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:Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
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Accession:DOID:9009109 term browser browse the term
Definition:IDDABS is caused by homozygous mutation in the PUS7 gene on chromosome 7q22.
Synonyms:exact_synonym: IDDABS
 primary_id: OMIM:618342
For additional species annotation, visit the Alliance of Genome Resources.


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Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM
ClinVar
PMID:25741868, PMID:30526862, PMID:30778726 NCBI chr 4:7,889,727...7,931,357
Ensembl chr 4:7,889,869...7,930,706
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        Dwarfism 493
          Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 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.