Online Mendelian Inheritance in Man - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
Synonyms	HSAN1
ID	http://purl.bioontology.org/ontology/OMIM/162400
altLabel	HSAN1 NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A HSN1A NEUROPATHY, HEREDITARY SENSORY, TYPE IA HSN IA HSAN IA HSAN1A
cui	C5235211 C0020071
Gene Locus	9q22.1-q22.3
Gene Symbol	HSN1 HSAN SPT1 SPTLC1 LBC1 ALS27
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU031245 http://purl.bioontology.org/ontology/OMIM/MTHU031243 http://purl.bioontology.org/ontology/OMIM/MTHU016722 http://purl.bioontology.org/ontology/OMIM/MTHU067303 http://purl.bioontology.org/ontology/OMIM/MTHU031244 http://purl.bioontology.org/ontology/OMIM/MTHU016714 http://purl.bioontology.org/ontology/OMIM/MTHU016726 http://purl.bioontology.org/ontology/OMIM/MTHU016723 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU016724 http://purl.bioontology.org/ontology/OMIM/MTHU016713 http://purl.bioontology.org/ontology/OMIM/MTHU006289 http://purl.bioontology.org/ontology/OMIM/MTHU010466 http://purl.bioontology.org/ontology/OMIM/MTHU006290 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU016718 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU016716 http://purl.bioontology.org/ontology/OMIM/MTHU016715 http://purl.bioontology.org/ontology/OMIM/MTHU037798 http://purl.bioontology.org/ontology/OMIM/MTHU016717 http://purl.bioontology.org/ontology/OMIM/MTHU016719 http://purl.bioontology.org/ontology/OMIM/MTHU001876 http://purl.bioontology.org/ontology/OMIM/MTHU065181
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	162400
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
Scope Statement	Caused by mutation in the long-chain base subunit 1 of the serine palmitoyltransferase gene (SPTLC1, 605712.0001) [MOLECULAR BASIS] Some patients with childhood onset and a more severe phenotype have been reported [MISCELLANEOUS] Onset usually in the second to fourth decades of life [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNOMEDCT/860813007	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/230553002	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/SCTSPA/860813007	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/397734008	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/MESH/D009477	MESH	CUI
	http://purl.bioontology.org/ontology/SNMI/DA-44031	SNMI	CUI
	http://purl.bioontology.org/ontology/RCD/X00AG	RCD	CUI
	http://purl.bioontology.org/ontology/SCTSPA/397734008	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SCTSPA/230553002	SCTSPA	CUI