ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9001623
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KOSAKI OVERGROWTH SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:8554872
RGD:7240710
RGD:13442504

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Path 1
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  disease 14875
    syndrome 4220
      KOSAKI OVERGROWTH SYNDROME 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Multiple Abnormalities 1276
            KOSAKI OVERGROWTH SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.