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

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/613115 http://purl.bioontology.org/ontology/OMIM/613115
Preferred Name	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Synonyms	HSAN2B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HSAN2B
prefLabel	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Gene Symbol	RETREG1 FAM134B HSAN2B
notation	613115
Scope Statement	Caused by mutation in the family with sequence similarity 134, member B gene (FAM134B, 613114.0001) [MOLECULAR BASIS] Onset in first or second decade [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU014749 http://purl.bioontology.org/ontology/OMIM/MTHU068988 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU014746 http://purl.bioontology.org/ontology/OMIM/MTHU013361 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU007334 http://purl.bioontology.org/ontology/OMIM/MTHU024606 http://purl.bioontology.org/ontology/OMIM/MTHU024604 http://purl.bioontology.org/ontology/OMIM/MTHU024607 http://purl.bioontology.org/ontology/OMIM/MTHU024609 http://purl.bioontology.org/ontology/OMIM/MTHU037798 http://purl.bioontology.org/ontology/OMIM/MTHU003516 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	5p15.1
tui	T047
cui	C2751092

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