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NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
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RETINITIS PIGMENTOSA 1 (CUI C0220701) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0220701

Semantic Type: Disease or Syndrome

GARD Definition: Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to breakdown and die, eventually resulting in vision loss. The first sign of RP is usually night blindness. As the condition progresses, affected individuals also develop tunnel vision. Sometimes RP occurs by itself (isolated RP), and other times it occurs with additional signs and symptoms (syndromic RP). Mutations in at least 50 genes have been found to cause RP. There is no cure for RP, however, there are a few treatment options to slow down the progression of the disease. These options include light avoidance, use of low-vision aids, and vitamin A supplementation. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
Retinitis pigmentosa 1
RP1

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DISEASE_IDENTIFIER_ID 3564 GARD
FR 3 MSH
GENELOCUS ,8,q,1,1,-,q,1,3, OMIM
GENESYMBOL ORP1 OMIM
GENESYMBOL RP1 OMIM
HAS_GARD_PAGE true GARD
HM D012174 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2008-12-03T00:00:00 GARD
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20121105 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9149/retinitis-pigmentosa-1/resources/1 GARD
RN 0 MSH
SC 3 MSH
TERMUI T745579 MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0220701

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