Cone-rod dystrophy 2

Preferred Label : Cone-rod dystrophy 2;

Symbol : CORD2;

CISMeF acronym : CORD; CORD2; CRD; CRD2; RCRD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CRD2; RCRD2; Retinal cone-rod dystrophy; Cone-rod dystrophy; CRD; Cone-rod retinal dystrophy; CORD;

Description : Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, atrophy of the central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). - Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy There are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (604116) is caused by mutation in the ABCA4 gene (601691) on chromosome 1p21-p23. CORD5 (600977) is caused by mutation in the PITPNM3 gene (608921) on chromosome 17p13-p12. CORD6 (601777) is caused by mutation in the GUCY2D gene (600179) on chromosome 17p13.1.;

Inheritance : Autosomal dominant (19q13.1-q13.2);

Prefixed ID : #120970;

Détails

Origin ID

120970;

UMLS CUI

C3489532;

Automatic exact mappings (from CISMeF team)
- CRd Regimen [NCIt concept]
- Chronic disease of respiratory system (disorder) [SNOMED CT concept]
- Chylomicron retention disease [ORDO Disease]
- Cone-Rod Dystrophies [MeSH Descriptor]
- Cone-Rod Dystrophies [MeSH concept]
- Cone/cone-rod dystrophy [HPO term]
- Contact with lifting and transmission devices, not elsewhere classified [ICD-10 category]
- Cord [NCIt concept]
- Cord Device [NCIt concept]
- Cording [MedDRA LLT]
- cone-rod dystrophy [DO Concept]
- cone-rod homeobox [ORDO Gene]
- cord [UCUM unit]
- retinitis pigmentosa [MeSH Descriptor]
- retinitis pigmentosa [MeSH concept]
- symbol withdrawn CORD2 [HGNC gene]
Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod Dystrophy 2 [NCIt concept]
- Cone-Rod dystrophy 2 [MeSH concept]
- cone-rod dystrophy 2 [DO Concept]
DO Cross reference
- cone-rod dystrophy 2 [DO Concept]
False automatic mappings
- KRd Regimen [NCIt concept]
- cord [UCUM unit]
Genes related to phenotype
- Cone-rod homeobox-containing gene [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Central scotoma [HPO term]
- Chorioretinal atrophy [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Constriction of peripheral visual field [HPO term]
- Macular hyperpigmentation [HPO term]
- Metamorphopsia [HPO term]
- Nyctalopia [HPO term]
- Peripheral visual field loss [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod Dystrophy 2 [NCIt concept]
- Cone-Rod dystrophy 2 [MeSH concept]
- Retinitis Pigmentosa [NCIt concept]
- Retinitis pigmentosa [MedDRA Preferred Term]
- Retinitis pigmentosa [ORDO Disease]
- Retinitis pigmentosa [PASCAL descriptor]
- Retinitis pigmentosa (disorder) [SNOMED CT concept]
- Retinitis pigmentosa/retinal pigmentary changes [HRDO Sign]
- cone-rod dystrophy 2 [DO Concept]
- obsolete Tapetoretinal degeneration [HPO term]
- retinitis pigmentosa [SNOMED Notion]
- retinitis pigmentosa [MeSH Descriptor]
- retinitis pigmentosa [MeSH concept]
Validated automatic mappings to BTNT
- Progressive cone-rod dystrophy (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]
- cone rod dystrophy [Disease (Nov.)]

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