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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:TAN-ALMURSHEDI SYNDROME
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Accession:DOID:9007532 term browser browse the term
Definition:This disease is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features.
Synonyms:exact_synonym: TANALS
 primary_id: OMIM:620641


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TAN-ALMURSHEDI SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Tan-Almurshedi syndrome OMIM
ClinVar		 PMID:25741868 PMID:37179472 NCBI chr14:78,103,876...78,119,976
Ensembl chr14:78,103,876...78,119,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        TAN-ALMURSHEDI SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                TAN-ALMURSHEDI SYNDROME 1
paths to the root