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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:CIMDAG SYNDROME
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Accession:DOID:9002030 term browser browse the term
Definition:This disease is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination.
Synonyms:exact_synonym: CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION;   CIMDAG
 primary_id: OMIM:619273



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CIMDAG SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION ClinVar
OMIM
PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr19:34,934,999...34,948,888
Ensembl chr19:34,934,961...34,948,887
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        Congenital Abnormalities 7501
          Multiple Abnormalities 3637
            CIMDAG SYNDROME 1
paths to the root