Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/609033
http://purl.bioontology.org/ontology/OMIM/609033
Preferred Name

RETINOPATHY-SENSORY NEUROPATHY SYNDROME
Synonyms
AXPC1
RETSNS
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
PCARP
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AXPC1
RETSNS
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
PCARP
prefLabel
RETINOPATHY-SENSORY NEUROPATHY SYNDROME
Gene Symbol
NEDMISH
AXPC1
PCARP
FLVCR1
RETSNS
Scope Statement
Caused by mutation in the FLVCR heme transporter 1 gene (FLVCR1, 609144.0001) [MOLECULAR BASIS]
Variable age at onset (range early childhood to young adulthood) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Slowly progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000329
http://purl.bioontology.org/ontology/OMIM/MTHU001836
http://purl.bioontology.org/ontology/OMIM/MTHU036684
http://purl.bioontology.org/ontology/OMIM/MTHU011456
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU001414
http://purl.bioontology.org/ontology/OMIM/MTHU001413
http://purl.bioontology.org/ontology/OMIM/MTHU038935
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU001423
http://purl.bioontology.org/ontology/OMIM/MTHU078982
http://purl.bioontology.org/ontology/OMIM/MTHU004196
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU026380
http://purl.bioontology.org/ontology/OMIM/MTHU001418
http://purl.bioontology.org/ontology/OMIM/MTHU001422
http://purl.bioontology.org/ontology/OMIM/MTHU008082
http://purl.bioontology.org/ontology/OMIM/MTHU001419
http://purl.bioontology.org/ontology/OMIM/MTHU038936
http://purl.bioontology.org/ontology/OMIM/MTHU001421
http://purl.bioontology.org/ontology/OMIM/MTHU001420
http://purl.bioontology.org/ontology/OMIM/MTHU078984
http://purl.bioontology.org/ontology/OMIM/MTHU038939
http://purl.bioontology.org/ontology/OMIM/MTHU002478
http://purl.bioontology.org/ontology/OMIM/MTHU001415
http://purl.bioontology.org/ontology/OMIM/MTHU036392
http://purl.bioontology.org/ontology/OMIM/MTHU038937
http://purl.bioontology.org/ontology/OMIM/MTHU013555
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU007334
http://purl.bioontology.org/ontology/OMIM/MTHU000322
http://purl.bioontology.org/ontology/OMIM/MTHU078980
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU001412
http://purl.bioontology.org/ontology/OMIM/MTHU001410
http://purl.bioontology.org/ontology/OMIM/MTHU078981
http://purl.bioontology.org/ontology/OMIM/MTHU001411
http://purl.bioontology.org/ontology/OMIM/MTHU001416
http://purl.bioontology.org/ontology/OMIM/MTHU078983
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU006716
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU038938
http://purl.bioontology.org/ontology/OMIM/MTHU001409
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tui
T047
Gene Locus
1q31.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
609033
Semantic type UMLS property
Has inheritance type
cui
C1836916
OMIM Entry Type
3
OMIM MimType Value
pound
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