MCID: NYS019
MIFTS: 8

Nystagmus, Congenital, Autosomal Recessive

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nystagmus, Congenital, Autosomal Recessive

MalaCards integrated aliases for Nystagmus, Congenital, Autosomal Recessive:

Name: Nystagmus, Congenital, Autosomal Recessive 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
nystagmus, congenital, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 257400
OMIM Phenotypic Series 56 PS310700
MedGen 41 C3151571
SNOMED-CT via HPO 68 258211005 64635004

Summaries for Nystagmus, Congenital, Autosomal Recessive

MalaCards based summary : Nystagmus, Congenital, Autosomal Recessive Affiliated tissues include eye, and related phenotype is congenital nystagmus.

More information from OMIM: 257400 PS310700

Related Diseases for Nystagmus, Congenital, Autosomal Recessive

Symptoms & Phenotypes for Nystagmus, Congenital, Autosomal Recessive

Human phenotypes related to Nystagmus, Congenital, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 congenital nystagmus 31 HP:0006934

Symptoms via clinical synopsis from OMIM:

56
Neuro:
nystagmus, isolated

Clinical features from OMIM:

257400

Drugs & Therapeutics for Nystagmus, Congenital, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Nystagmus, Congenital, Autosomal Recessive

Genetic Tests for Nystagmus, Congenital, Autosomal Recessive

Anatomical Context for Nystagmus, Congenital, Autosomal Recessive

MalaCards organs/tissues related to Nystagmus, Congenital, Autosomal Recessive:

40
Eye

Publications for Nystagmus, Congenital, Autosomal Recessive

Variations for Nystagmus, Congenital, Autosomal Recessive

Expression for Nystagmus, Congenital, Autosomal Recessive

Search GEO for disease gene expression data for Nystagmus, Congenital, Autosomal Recessive.

Pathways for Nystagmus, Congenital, Autosomal Recessive

GO Terms for Nystagmus, Congenital, Autosomal Recessive

Sources for Nystagmus, Congenital, Autosomal Recessive

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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