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RGD uses the Human Disease Ontology (DO, 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:Kosaki Overgrowth Syndrome
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Accession:DOID:9002509 term browser browse the term
Definition:Characterized by tallness, with elongated lower segment, hands, and feet, with a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals also have hyperelastic and fragile skin, plus progressive neurologic deterioration. (OMIM)
Synonyms:exact_synonym: KOGS;   skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration
 primary_id: OMIM:616592
For additional species annotation, visit the Alliance of Genome Resources.

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Kosaki Overgrowth Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Kosaki overgrowth syndrome
DNA:mutation:cds:c.1696T>C p.W566R(human)
PMID:25454926, PMID:28639748 RGD:13442504 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Kosaki Overgrowth Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Multiple Abnormalities 1757
            Kosaki Overgrowth Syndrome 1
paths to the root