MCID: CNR039
MIFTS: 15

Cone-Rod Dystrophy, X-Linked, 2

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy, X-Linked, 2

MalaCards integrated aliases for Cone-Rod Dystrophy, X-Linked, 2:

Name: Cone-Rod Dystrophy, X-Linked, 2 57 73
Cordx2 57 12 53
Cod2 57 12 53
Cone Dystrophy, Progressive X-Linked, 2 57
Cone Dystrophy 2, X-Linked; Cod2 57
X-Linked Cone-Rod Dystrophy 2 12
Cone-Rod Dystrophy X-Linked 2 53
Cone Dystrophy 2, X-Linked 57
Cone Dystrophy-2, X-Linked 13
X-Linked Cone Dystrophy 2 12
Cone Dystrophy X-Linked 2 53

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
cone-rod dystrophy, x-linked, 2:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM 57 300085
Disease Ontology 12 DOID:0111006
MedGen 42 C1848139
SNOMED-CT via HPO 69 28835009 312917007 263934009
UMLS 73 C1848139

Summaries for Cone-Rod Dystrophy, X-Linked, 2

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region Xq27.

MalaCards based summary : Cone-Rod Dystrophy, X-Linked, 2, is also known as cordx2. An important gene associated with Cone-Rod Dystrophy, X-Linked, 2 is COD2 (Cone Dystrophy 2 (X-Linked)). Affiliated tissues include eye, and related phenotypes are cone/cone-rod dystrophy and progressive cone degeneration

Description from OMIM: 300085

Related Diseases for Cone-Rod Dystrophy, X-Linked, 2

Symptoms & Phenotypes for Cone-Rod Dystrophy, X-Linked, 2

Symptoms via clinical synopsis from OMIM:

57
Eyes:
progressive cone dystrophy


Clinical features from OMIM:

300085

Human phenotypes related to Cone-Rod Dystrophy, X-Linked, 2:

32
# Description HPO Frequency HPO Source Accession
1 cone/cone-rod dystrophy 32 HP:0000548
2 progressive cone degeneration 32 HP:0008020

Drugs & Therapeutics for Cone-Rod Dystrophy, X-Linked, 2

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy, X-Linked, 2

Genetic Tests for Cone-Rod Dystrophy, X-Linked, 2

Anatomical Context for Cone-Rod Dystrophy, X-Linked, 2

MalaCards organs/tissues related to Cone-Rod Dystrophy, X-Linked, 2:

41
Eye

Publications for Cone-Rod Dystrophy, X-Linked, 2

Variations for Cone-Rod Dystrophy, X-Linked, 2

Expression for Cone-Rod Dystrophy, X-Linked, 2

Search GEO for disease gene expression data for Cone-Rod Dystrophy, X-Linked, 2.

Pathways for Cone-Rod Dystrophy, X-Linked, 2

GO Terms for Cone-Rod Dystrophy, X-Linked, 2

Sources for Cone-Rod Dystrophy, X-Linked, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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