OBO ID: DOID:0080052
Term Name: acromesomelic dysplasia, Grebe type Search Ontology:
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)
OTHER acromesomelic dysplasia, Grebe type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GDF5 Acromesomelic dysplasia 2A 200700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None