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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/200700
http://purl.bioontology.org/ontology/OMIM/200700
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|---|---|
| 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
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| 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
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| Gene Symbol |
GDF5
CDMP1
SYNS2
SYM1B
DUPANS
OS5
BDA1C
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| notation | 200700
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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]
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| OMIM MimType Value | pound
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| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 20q11.2
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| tui | T047
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| cui | C0265260
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