MCID: NYS019
MIFTS: 6

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
nystagmus, congenital, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C3151571

Summaries for Nystagmus, Congenital, Autosomal Recessive

MalaCards based summary : Nystagmus, Congenital, Autosomal Recessive 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:

32
# Description HPO Frequency HPO Source Accession
1 congenital nystagmus 32 HP:0006934

Symptoms via clinical synopsis from OMIM:

57
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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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