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Entry Name Description Category Pathway Gene
H01889 Meier-Gorlin syndrome
Ear-patella-short statute syndrome
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings ... Congenital malformation (MGORS1) ORC1 [HSA:4998] [KO:K02603]
(MGORS2) ORC4 [HSA:5000] [KO:K02606]
(MGORS3) ORC6 [HSA:23594] [KO:K02608]
(MGORS4) CDT1 [HSA:81620] [KO:K10727]
(MGORS5) CDC6 [HSA:990] [KO:K02213]
(MGORS6) GMNN [HSA:51053] [KO:K10749]
(MGORS7) CDC45 [HSA:8318] [KO:K06628]
(MGORS8) MCM5 [HSA:4174] [KO:K02209]
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