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Cell Culture Ontology
Preferred Name | hereditary sensory and autonomic neuropathy | |
Synonyms |
hereditary sensory autonomic neuropathy hereditary sensory neuropathy hereditary sensory peripheral neuropathy indifference to pain, Congenital, autosomal recessive hereditary sensory and autonomic neuropathy congenital pain insensitivity congenital insensitivity to pain CIP HSAN |
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Definitions |
An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0015364 |
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curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015364 |
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database_cross_reference |
UMLS:C0027889 SCTID:11442006 OMIMPS:162400 NCIT:C125386 MESH:D009477 MEDGEN:14355 DOID:0050548 icd11.foundation:1091217288 Orphanet:140471 GARD:12688 ICD9:356.2
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definition |
An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.
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has_exact_synonym |
hereditary sensory neuropathy hereditary sensory peripheral neuropathy indifference to pain, Congenital, autosomal recessive hereditary sensory and autonomic neuropathy congenital pain insensitivity congenital insensitivity to pain CIP HSAN
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has_related_synonym |
hereditary sensory autonomic neuropathy
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IAO_0000233 |
https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 |
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id |
MONDO:0015364
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
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label |
hereditary sensory and autonomic neuropathy
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|
notation |
MONDO:0015364
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preferred label |
hereditary sensory and autonomic neuropathy
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prefLabel |
hereditary sensory and autonomic neuropathy
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skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C125386 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1091217288 http://purl.obolibrary.org/obo/Orphanet_140471 http://identifiers.org/medgen/14355 http://linkedlifedata.com/resource/umls/id/C0027889 http://identifiers.org/mesh/D009477 http://purl.obolibrary.org/obo/DOID_0050548 |
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subClassOf |
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