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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:Microcephaly, Short Stature, and Limb Abnormalities
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Accession:DOID:9002832 term browser browse the term
Definition:An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. (OMIM)
Synonyms:exact_synonym: MISSLA
 primary_id: OMIM:617604


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Microcephaly, Short Stature, and Limb Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities OMIM
ClinVar		 PMID:8434992 PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      musculoskeletal system disease 8193
        Musculoskeletal Abnormalities 3217
          Microcephaly, Short Stature, and Limb Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 21086
    Developmental Disease 18380
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
        Congenital Abnormalities 7501
          Musculoskeletal Abnormalities 3217
            Microcephaly, Short Stature, and Limb Abnormalities 1
paths to the root