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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:0081431 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. (DO)
Synonyms:exact_synonym: DONSON-related microcephaly-short stature-limb abnormalities spectrum;   MISSLA
 broad_synonym: DONSON-RELATED CONDITION
 primary_id: MIM:617604
 alt_id: DOID:9002832
 xref: ORDO:572761


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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 Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities ClinVar PMID:25741868 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: DONSON-related condition | ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities OMIM
ClinVar		 PMID:8434992 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 More... NCBI chr11:30,919,834...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 19137
    Developmental Disease 14663
      bone development disease 2385
        osteochondrodysplasia 881
          microcephaly, short stature, and limb abnormalities 2
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal recessive disease 6971
                microcephaly, short stature, and limb abnormalities 2
paths to the root