loading...| Preferred Name | atelosteogenesis type I | |
| Synonyms |
spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1 AOI giant cell chondrodysplasia atelosteogenesis type 1 AO1 spondylo-humero-femoral dysplasia |
|
| Definitions |
Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007167 |
|
| altLabel |
spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1 AOI giant cell chondrodysplasia atelosteogenesis type 1 AO1 spondylo-humero-femoral dysplasia |
|
| definition |
Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
|
| has_exact_synonym |
AOI giant cell chondrodysplasia atelosteogenesis type 1 AO1 spondylo-humero-femoral dysplasia |
|
| has_related_synonym |
spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1 |
|
| IAO_0000233 | ||
| label |
atelosteogenesis type I |
|
| prefixIRI |
MONDO:0007167 |
|
| prefLabel |
atelosteogenesis type I |
|
| textual definition |
Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000389 http://purl.obolibrary.org/obo/MONDO_0018187 |