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Metadata
ID DOID:0080052
Name acromesomelic dysplasia, Grebe type
Definition 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.
http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098, http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf
Xrefs

OMIM:200700

ORDO:2098

Synonyms

grebe chondrodysplasia [EXACT]

Parent Relationships

is_a acromesomelic dysplasia

is_a autosomal recessive disease

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