Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Acrofacial dysostosis
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_364574
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364574
hasDbXref	ICD-11:LD25.2 UMLS:C1332140
label	Acrofacial dysostosis
notation	ORPHA:364574 Clinical group
prefixIRI	ORDO:Orphanet_364574
prefLabel	Acrofacial dysostosis
subClassOf	http://www.orpha.net/ORDO/Orphanet_364571 http://www.orpha.net/ORDO/Orphanet_557492

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_364574	EFO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0060379	DDSS	LOOM
http://purl.obolibrary.org/obo/MONDO_0018237	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018237	EFO	LOOM
rgo:28726	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0060379	DOID	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35795	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acrofacial_Dysostosis	CSEO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018237	DOVES	LOOM
http://purl.obolibrary.org/obo/NCIT_C35795	BERO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14678	DERMLEX	LOOM
http://purl.obolibrary.org/obo/DOID_0060379	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0060379	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060379	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060379	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060379	FNS-H	LOOM