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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
For additional species annotation, visit the Alliance of Genome Resources.



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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
ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities
ClinVar
OMIM
PMID:8434992 PMID:25741868 PMID:28191891 PMID:28492532 PMID:28630177 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        Musculoskeletal Abnormalities 2255
          Microcephaly, Short Stature, and Limb Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        Congenital Abnormalities 5651
          Musculoskeletal Abnormalities 2255
            Microcephaly, Short Stature, and Limb Abnormalities 1
paths to the root