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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/201300 http://purl.bioontology.org/ontology/OMIM/201300
Preferred Name	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
Synonyms	HSAN IIA HSN IIA NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE HSAN2A NEUROPATHY, HEREDITARY SENSORY, TYPE IIA MORVAN DISEASE HSN2A NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN ACROOSTEOLYSIS, GIACCAI TYPE ACROOSTEOLYSIS, NEUROGENIC NEUROPATHY, CONGENITAL SENSORY See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HSAN IIA HSN IIA NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE HSAN2A NEUROPATHY, HEREDITARY SENSORY, TYPE IIA MORVAN DISEASE HSN2A NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN ACROOSTEOLYSIS, GIACCAI TYPE ACROOSTEOLYSIS, NEUROGENIC NEUROPATHY, CONGENITAL SENSORY See more See less
prefLabel	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
Gene Symbol	HSAN2 PHA2C KDP WNK1 PRKWNK1 HSN2 See more See less
Scope Statement	High disease prevalence among French-Canadians [MISCELLANEOUS] Caused by mutation in the HSN2 isoform of the protein kinase, lysine-deficient 1 gene (WNK1, 605232.0003) [MOLECULAR BASIS] Slow progression [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU014748 http://purl.bioontology.org/ontology/OMIM/MTHU014745 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU014749 http://purl.bioontology.org/ontology/OMIM/MTHU014742 http://purl.bioontology.org/ontology/OMIM/MTHU014739 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU014746 http://purl.bioontology.org/ontology/OMIM/MTHU013361 http://purl.bioontology.org/ontology/OMIM/MTHU014744 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000717 http://purl.bioontology.org/ontology/OMIM/MTHU014737 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU014747 http://purl.bioontology.org/ontology/OMIM/MTHU009396 http://purl.bioontology.org/ontology/OMIM/MTHU007334 http://purl.bioontology.org/ontology/OMIM/MTHU014750 http://purl.bioontology.org/ontology/OMIM/MTHU014741 http://purl.bioontology.org/ontology/OMIM/MTHU001888 http://purl.bioontology.org/ontology/OMIM/MTHU001815 http://purl.bioontology.org/ontology/OMIM/MTHU014738 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU014740 http://purl.bioontology.org/ontology/OMIM/MTHU041691 http://purl.bioontology.org/ontology/OMIM/MTHU014743 See more See less
tui	T047
Gene Locus	12p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	201300
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2752089 C3854373
Moved from	210300
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display