loading...| Preferred Name | atelosteogenesis type I | |
| Synonyms |
spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1 giant cell chondrodysplasia spondylo-humero-femoral dysplasia atelosteogenesis type 1 AO1 AOI |
|
| 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 |
|
| database_cross_reference |
icd11.foundation:449799342 UMLS:C0265283 Orphanet:1190 MESH:C535396 MEDGEN:82701 SCTID:725141006 OMIM:108720 GARD:9287 |
|
| 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 |
giant cell chondrodysplasia spondylo-humero-femoral dysplasia atelosteogenesis type 1 AO1 AOI |
|
| has_related_synonym |
spondylohumerofemoral hypoplasia atelosteogenesis, type I atelosteogenesis, type 1 |
|
| IAO_0000233 | ||
| id |
MONDO:0007167 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
atelosteogenesis type I |
|
| notation |
MONDO:0007167 |
|
| preferred label |
atelosteogenesis type I |
|
| prefLabel |
atelosteogenesis type I |
|
| skos_exactMatch |
http://identifiers.org/snomedct/725141006 http://identifiers.org/medgen/82701 http://linkedlifedata.com/resource/umls/id/C0265283 http://purl.obolibrary.org/obo/Orphanet_1190 http://identifiers.org/mesh/C535396 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/449799342 |
|
| subClassOf | ||
| excluded_subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007167 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007167 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007167 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007167 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007167 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007167 | DOVES | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_1190 | ORDO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/108720 | OMIM | LOOM |