MCID: OPT078
MIFTS: 5

Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

MalaCards integrated aliases for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:

Name: Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA543470

Summaries for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

MalaCards based summary : Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome An important gene associated with Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome is FDXR (Ferredoxin Reductase). Affiliated tissues include eye.

Related Diseases for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Symptoms & Phenotypes for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Drugs & Therapeutics for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Search Clinical Trials , NIH Clinical Center for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome

Genetic Tests for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Anatomical Context for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

MalaCards organs/tissues related to Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:

40
Eye

Publications for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Variations for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Expression for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Search GEO for disease gene expression data for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome.

Pathways for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

GO Terms for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

Sources for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...

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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