Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Hereditary sensory and autonomic neuropathy
Synonyms	HSAN
ID	http://www.orpha.net/ORDO/Orphanet_140471
alternative_term	HSAN
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=140471
hasDbXref	UMLS:C0027889 MeSH:D009477 ICD-11:8C21
label	Hereditary sensory and autonomic neuropathy
notation	ORPHA:140471 Clinical group
prefixIRI	ORDO:Orphanet_140471
prefLabel	Hereditary sensory and autonomic neuropathy
subClassOf	http://www.orpha.net/ORDO/Orphanet_98497 http://www.orpha.net/ORDO/Orphanet_557492

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_140471	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015364	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_16973	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015364	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015364	OBA	LOOM
http://purl.obolibrary.org/obo/DOID_11533	CLO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015364	DOVES	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/128205005	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/RCD/X00AF	RCD	LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#hereditary_sensory_and_autonomic_neuropathy	NRO	LOOM