loading...| Preferred Name | Antley-Bixler syndrome | |
| Synonyms |
osteodysgenesis, multisynostotic, with fractures osteodysgenesis, multisynostotic with fractures trapezoidocephaly synostosis syndrome multisynostotic osteodysgenesis with long bone fractures Antley Bixler syndrome trapezoidocephaly-synostosis syndrome |
|
| Definitions |
Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008803 |
|
| database_cross_reference |
Orphanet:83 NANDO:1200669 DOID:0050462 UMLS:C5234850 SCTID:62964007 icd11.foundation:2027710139 NORD:792 NANDO:2200975 GARD:5826 DOID:0081289 MEDGEN:1714404 |
|
| definition |
Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. |
|
| has_exact_synonym |
trapezoidocephaly-synostosis syndrome |
|
| has_related_synonym |
osteodysgenesis, multisynostotic, with fractures osteodysgenesis, multisynostotic with fractures trapezoidocephaly synostosis syndrome multisynostotic osteodysgenesis with long bone fractures Antley Bixler syndrome |
|
| id |
MONDO:0008803 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Antley-Bixler syndrome |
|
| notation |
MONDO:0008803 |
|
| prefLabel |
Antley-Bixler syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C5234850 http://purl.obolibrary.org/obo/DOID_0050462 http://purl.obolibrary.org/obo/DOID_0081289 http://identifiers.org/snomedct/62964007 http://purl.obolibrary.org/obo/Orphanet_83 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2027710139 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015338 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015338 |