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Details on Person Schmid metaphyseal chondrodysplasia

Class:IdDisease:9017625
_displayNameSchmid metaphyseal chondrodysplasia
_timestamp2017-08-23 11:54:31
created[InstanceEdit:9017635] Varusai, Thawfeek, 2017-08-23
definitionA metaphyseal dysplasia that results_in dwarfism and bowed legs.
identifier0080021
modified[InstanceEdit:9017680] Varusai, Thawfeek, 2017-08-23
nameSchmid metaphyseal chondrodysplasia
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymJapanese type spondylometaphyseal dysplasia
Schmid type metaphyseal dysplasia
(disease)[Pathway:9014523] Assembly of abnormal collagen fibrils and other multimeric structures [Homo sapiens]
[Reaction:9017602] Defective procollagen type X [Homo sapiens]
[Reaction:9017620] Formation of defective COL10A1 collagen networks [Homo sapiens]
[Reaction:9017623] Defective procollagen type X bind to form an abnormal procollagen triple helix [Homo sapiens]
[BlackBoxEvent:9017640] Secretion of abnormal COL10A1 collagens [Homo sapiens]
[Reaction:9017722] Defective type X collagen associates with collagen type II fibrils [Homo sapiens]
[Pathway:9018067] Abnormal non-integrin membrane-ECM interactions [Homo sapiens]
[Reaction:9018101] DDR2 binds COL10A1-defective collagen type I, II, III, V, X fibrils [Homo sapiens]
[Pathway:9018204] Abnormal degradation of the extracellular matrix [Homo sapiens]
[Pathway:9018210] Abnormal collagen degradation [Homo sapiens]
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No pathways have been reviewed or authored by Schmid metaphyseal chondrodysplasia (9017625)