Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/162370
http://purl.bioontology.org/ontology/OMIM/162370
Preferred Name

NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
Type http://www.w3.org/2002/07/owl#Class

All Properties

prefLabel
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
Scope Statement
Onset at birth [MISCELLANEOUS]
Nonprogressive disorder [MISCELLANEOUS]
One family has been reported (as of April 2012) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000750
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU037000
http://purl.bioontology.org/ontology/OMIM/MTHU033118
http://purl.bioontology.org/ontology/OMIM/MTHU037001
http://purl.bioontology.org/ontology/OMIM/MTHU003763
http://purl.bioontology.org/ontology/OMIM/MTHU008781
http://purl.bioontology.org/ontology/OMIM/MTHU033304
http://purl.bioontology.org/ontology/OMIM/MTHU004325
http://purl.bioontology.org/ontology/OMIM/MTHU011912
http://purl.bioontology.org/ontology/OMIM/MTHU004196
http://purl.bioontology.org/ontology/OMIM/MTHU037003
http://purl.bioontology.org/ontology/OMIM/MTHU037002
http://purl.bioontology.org/ontology/OMIM/MTHU037004
http://purl.bioontology.org/ontology/OMIM/MTHU016911
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU016912
http://purl.bioontology.org/ontology/OMIM/MTHU003604
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU037005
http://purl.bioontology.org/ontology/OMIM/MTHU036999
See more
See less
tui
T047
MIMTYPEMEANING
Mendelian phenotype or locus, molecular basis unknown.
notation
162370
Semantic type UMLS property
Has inheritance type
cui
C1834206
OMIM Entry Type
5
OMIM MimType Value
perc
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display