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Human Disease

acromesomelic dysplasia, Grebe type

Term ID
DOID:0080052
Synonyms
  • acromesomelic dysplasia-2A
  • grebe chondrodysplasia
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. (2)
References
Ontology
Human Disease   ( DOID:0080052 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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