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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: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: MIM:616592


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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 DNA:mutation:cds:c.1696T>C p.W566R(human)
ClinVar Annotator: match by term: Kosaki overgrowth syndrome | ClinVar Annotator: match by term: SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... RGD:13442504 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      Kosaki Overgrowth Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Multiple Abnormalities 3835
            Kosaki Overgrowth Syndrome 1
paths to the root