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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:0081265 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: IDDABS;   IDDBAS
 primary_id: OMIM:618342
 alt_id: DOID:9009109

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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:25741916 PMID:28492532 PMID:30526862 PMID:30778726 More... NCBI chrNW_004936479:18,354,009...18,395,765
Ensembl chrNW_004936479:18,354,022...18,395,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      endocrine system disease 5610
        Dwarfism 811
          intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9609
            autosomal genetic disease 8893
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    microcephaly 1105
                      intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
paths to the root