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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
 broad_synonym: PUS7-related condition
 alt_id: DOID:9009109
 xref: MIM:618342;   MONDO:0032687


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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 | ClinVar Annotator: match by term: PUS7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 NCBI chr 4:12,252,553...12,293,547
Ensembl chr 4:11,360,188...11,401,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      endocrine system disease 7042
        Dwarfism 875
          intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1643
                  Malformations of Cortical Development, Group I 1398
                    microcephaly 1146
                      intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
paths to the root