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Drug Target Ontology
Last uploaded:
February 15, 2018
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| Preferred Name | Antley-Bixler syndrome | |
| Synonyms |
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| Definitions |
An autosomal recessive disease 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050462 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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|
| definition |
An autosomal recessive disease 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.
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| hasDbXref |
UMLS_CUI:C2936791 UMLS_CUI:C2350233 MESH:D054882 UMLS_CUI:C1860042 OMIM:201750 SNOMEDCT_US_2016_03_01:62964007 OMIM:207410
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| hasExactSynonym |
trapezoidocephaly-synostosis syndrome
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| hasOBONamespace |
disease_ontology
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| id |
DOID:0050462
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| imported from | ||
| label |
Antley-Bixler syndrome
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| prefixIRI |
DOID:0050462
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| prefLabel |
Antley-Bixler syndrome
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| subClassOf |
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