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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:SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
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Accession:DOID:9003499 term browser browse the term
Definition:This disease is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies.
Synonyms:exact_synonym: SIMHA;   SIMHA SYNDROME
 primary_id: OMIM:619557
For additional species annotation, visit the Alliance of Genome Resources.



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SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies OMIM
ClinVar
PMID:24907849 PMID:32737394 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    sensory system disease 6388
      eye disease 2927
        Eye Abnormalities 461
          SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                complex cortical dysplasia with other brain malformations 1426
                  Malformations of Cortical Development, Group I 1271
                    microcephaly 1106
                      SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
paths to the root