Disease #05222

Official abbreviation KOGS
Name Kosaki overgrowth syndrome (KOGS)
OMIM ID 616592
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene PDGFRB
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00100306 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - 0 - - KOGS see paper; ..., overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, neurologic deterioration PDGFRB PDGFRB 1 1 Johan den Dunnen
00100307 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - 0 - - KOGS see paper; ..., overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, neurologic deterioration PDGFRB PDGFRB 1 1 Johan den Dunnen
00100309 - Takenouchi, IRDiRC 2017 - - no Japan - - 0 - - KOGS - PDGFRB PDGFRB 1 1 Johan den Dunnen
00100310 - Takenouchi, IRDiRC 2017 - - no Japan - - 0 - - KOGS - PDGFRB PDGFRB 1 1 Johan den Dunnen
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