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Experimental Factor Ontology
| Preferred Name | Antley-Bixler syndrome | |
| Synonyms |
multisynostotic osteodysgenesis with long bone fractures osteodysgenesis, multisynostotic with fractures osteodysgenesis, multisynostotic, with fractures Antley Bixler syndrome trapezoidocephaly synostosis 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 |
SCTID:62964007 DOID:0050462 MEDGEN:1714404 icd11.foundation:2027710139 Orphanet:83 DOID:0081289 UMLS:C5234850 NANDO:2200975 NANDO:1200669 GARD:5826 NORD:792
|
|
| definition |
Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
|
|
| 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 |
|
| has_exact_synonym |
trapezoidocephaly-synostosis syndrome
|
|
| has_related_synonym |
multisynostotic osteodysgenesis with long bone fractures osteodysgenesis, multisynostotic with fractures osteodysgenesis, multisynostotic, with fractures Antley Bixler syndrome trapezoidocephaly synostosis syndrome
|
|
| id |
MONDO:0008803
|
|
| 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 |
Antley-Bixler syndrome
|
|
| notation |
MONDO:0008803
|
|
| preferred label |
Antley-Bixler syndrome
|
|
| prefLabel |
Antley-Bixler syndrome
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015338 |
| Delete | Subject | Author | Type | Created |
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| No notes to display |