MCID: OKH001
MIFTS: 6

Okihiro Syndrome Due to a Point Mutation

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Okihiro Syndrome Due to a Point Mutation

MalaCards integrated aliases for Okihiro Syndrome Due to a Point Mutation:

Name: Okihiro Syndrome Due to a Point Mutation 58
Duane-Radial Ray Syndrome Due to a Point Mutation 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA261647

Summaries for Okihiro Syndrome Due to a Point Mutation

MalaCards based summary : Okihiro Syndrome Due to a Point Mutation, is also known as duane-radial ray syndrome due to a point mutation. An important gene associated with Okihiro Syndrome Due to a Point Mutation is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include eye.

Related Diseases for Okihiro Syndrome Due to a Point Mutation

Symptoms & Phenotypes for Okihiro Syndrome Due to a Point Mutation

Drugs & Therapeutics for Okihiro Syndrome Due to a Point Mutation

Search Clinical Trials , NIH Clinical Center for Okihiro Syndrome Due to a Point Mutation

Genetic Tests for Okihiro Syndrome Due to a Point Mutation

Anatomical Context for Okihiro Syndrome Due to a Point Mutation

MalaCards organs/tissues related to Okihiro Syndrome Due to a Point Mutation:

40
Eye

Publications for Okihiro Syndrome Due to a Point Mutation

Variations for Okihiro Syndrome Due to a Point Mutation

Expression for Okihiro Syndrome Due to a Point Mutation

Search GEO for disease gene expression data for Okihiro Syndrome Due to a Point Mutation.

Pathways for Okihiro Syndrome Due to a Point Mutation

GO Terms for Okihiro Syndrome Due to a Point Mutation

Sources for Okihiro Syndrome Due to a Point Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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