Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/200700
http://purl.bioontology.org/ontology/OMIM/200700
Preferred Name

ACROMESOMELIC DYSPLASIA 2A
Synonyms
ACHONDROGENESIS, BRAZILIAN
AMD2A
ACROMESOMELIC DYSPLASIA, GREBE TYPE
AMDG
GREBE DYSPLASIA
GREBE CHONDRODYSPLASIA
ACHONDROGENESIS, TYPE II, FORMERLY
CHONDRODYSPLASIA, GREBE TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ACHONDROGENESIS, BRAZILIAN
AMD2A
ACROMESOMELIC DYSPLASIA, GREBE TYPE
AMDG
GREBE DYSPLASIA
GREBE CHONDRODYSPLASIA
ACHONDROGENESIS, TYPE II, FORMERLY
CHONDRODYSPLASIA, GREBE TYPE
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prefLabel
ACROMESOMELIC DYSPLASIA 2A
Gene Symbol
GDF5
CDMP1
SYNS2
SYM1B
DUPANS
OS5
BDA1C
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Scope Statement
Increased frequency in the state of Bahia, Brazil [MISCELLANEOUS]
Stillborn or death in infancy [MISCELLANEOUS]
Allelic to acromesomelic dysplasia, Hunter-Thompson type (201250), brachydactyly, type C (113100), and fibular hypoplasia nd complex brachydactyly (228900) [MISCELLANEOUS]
Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0003) [MOLECULAR BASIS]
Heterozygote individuals are average stature and can have mild skeletal abnormalities including brachydactyly, delayed bone age, metatarsus adductus, and finger flexion contractures [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU014821
http://purl.bioontology.org/ontology/OMIM/MTHU014823
http://purl.bioontology.org/ontology/OMIM/MTHU014824
http://purl.bioontology.org/ontology/OMIM/MTHU014818
http://purl.bioontology.org/ontology/OMIM/MTHU001946
http://purl.bioontology.org/ontology/OMIM/MTHU014817
http://purl.bioontology.org/ontology/OMIM/MTHU005891
http://purl.bioontology.org/ontology/OMIM/MTHU014815
http://purl.bioontology.org/ontology/OMIM/MTHU014816
http://purl.bioontology.org/ontology/OMIM/MTHU014822
http://purl.bioontology.org/ontology/OMIM/MTHU005888
http://purl.bioontology.org/ontology/OMIM/MTHU014820
http://purl.bioontology.org/ontology/OMIM/MTHU014827
http://purl.bioontology.org/ontology/OMIM/MTHU000602
http://purl.bioontology.org/ontology/OMIM/MTHU005890
http://purl.bioontology.org/ontology/OMIM/MTHU012189
http://purl.bioontology.org/ontology/OMIM/MTHU014819
http://purl.bioontology.org/ontology/OMIM/MTHU014825
http://purl.bioontology.org/ontology/OMIM/MTHU014814
http://purl.bioontology.org/ontology/OMIM/MTHU014757
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU014826
http://purl.bioontology.org/ontology/OMIM/MTHU000821
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tui
T047
Gene Locus
20q11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
200700
Semantic type UMLS property
Has inheritance type
cui
C0265260
OMIM Entry Type
3
OMIM MimType Value
pound
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