FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Antley-Bixler syndrome
Synonyms
Definitions

A craniosynostosis 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.
ID

http://purl.obolibrary.org/obo/DOID_0050462
definition

A craniosynostosis 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.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Antley-Bixler syndrome
prefixIRI

DOID:0050462
prefLabel

Antley-Bixler syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_2340

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_0050462 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050462 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050462 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050462 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050462 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050462 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050462 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0081289 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008803 MONDO LOOM
http://id.nlm.nih.gov/mesh/D054882 MDM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083864 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/62964007 SNOMEDCT LOOM
rgo:06097 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265307 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0008803 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008803 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008803 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_83 ORDO LOOM
http://purl.org/skeletome/bonedysplasia#Antley-Bixler_syndrome BDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200975 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050462 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050462 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0081289 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0081289 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0081289 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0081289 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00D04 SNMI LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1391 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200669 NANDO LOOM