loading...| Preferred Name | Antley-Bixler syndrome | |
| Synonyms |
trapezoidocephaly-synostosis syndrome |
|
| Definitions |
A syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050462 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
OMIM:207410 SNOMEDCT_US_2020_03_01:62964007 OMIM:201750 |
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| has exact match |
MESH:D054882 |
|
| has exact synonym |
trapezoidocephaly-synostosis syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050462 |
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| imported from | ||
| label |
Antley-Bixler syndrome |
|
| notation |
DOID:0050462 |
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| prefLabel |
Antley-Bixler syndrome |
|
| textual definition |
A syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. |
|
| subClassOf |