MCID: FLC004
MIFTS: 12

Fleck Retina of Kandori

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Fleck Retina of Kandori

MalaCards integrated aliases for Fleck Retina of Kandori:

Name: Fleck Retina of Kandori 56
Kandori Fleck Retina 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fleck retina of kandori:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

OMIM 56 228990
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0271257
Orphanet 58 ORPHA99179
MedGen 41 C0271257

Summaries for Fleck Retina of Kandori

MalaCards based summary : Fleck Retina of Kandori, is also known as kandori fleck retina. Affiliated tissues include retina and eye, and related phenotypes are blindness and nyctalopia

More information from OMIM: 228990

Related Diseases for Fleck Retina of Kandori

Symptoms & Phenotypes for Fleck Retina of Kandori

Human phenotypes related to Fleck Retina of Kandori:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 nyctalopia 31 HP:0000662
3 retinal flecks 31 HP:0012045

Symptoms via clinical synopsis from OMIM:

56
Eyes:
fleck retina
macula spared
irregular variably-sized retinal flecks
abnormal pigment epithelium
mild night blindness

Clinical features from OMIM:

228990

Drugs & Therapeutics for Fleck Retina of Kandori

Search Clinical Trials , NIH Clinical Center for Fleck Retina of Kandori

Genetic Tests for Fleck Retina of Kandori

Anatomical Context for Fleck Retina of Kandori

MalaCards organs/tissues related to Fleck Retina of Kandori:

40
Retina, Eye

Publications for Fleck Retina of Kandori

Articles related to Fleck Retina of Kandori:

# Title Authors PMID Year
1
Flecked retina disorders. 61
7952338 1993
2
Report of a case resembling the 'fleck retina of Kandori' with ectodermal peculiarities and macula degeneration. 61
317226 1979

Variations for Fleck Retina of Kandori

Expression for Fleck Retina of Kandori

Search GEO for disease gene expression data for Fleck Retina of Kandori.

Pathways for Fleck Retina of Kandori

GO Terms for Fleck Retina of Kandori

Sources for Fleck Retina of Kandori

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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