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Namespace Prefixes

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Statements

Subject Item

_:vb50940299

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dc:type

n4:ECO_0007636

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n4:IAO_0000115

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An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.

obo:hasDbXref

url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098 url:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf url:http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx