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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:Hengel-Maroofian-Schols syndrome
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Accession:DOID:0070408 term browser browse the term
Definition:A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: HEMARS;   NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
 primary_id: MIM:619641
 alt_id: DOID:9005952


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Hengel-Maroofian-Schols syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcas3 BCAS3, microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome OMIM
ClinVar		 PMID:25741868 PMID:34022130 NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Hengel-Maroofian-Schols syndrome 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        peripheral nervous system disease 4382
          neuropathy 4169
            neuromuscular disease 3218
              muscular disease 2225
                Muscle Spasticity 123
                  Hengel-Maroofian-Schols syndrome 1
paths to the root