MCID: OKH001
MIFTS: 8

Okihiro Syndrome Due to a Point Mutation

Categories: Eye diseases, Bone 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 59
Duane-Radial Ray Syndrome Due to a Point Mutation 59

Classifications:



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Orphanet 59 ORPHA261647
ICD10 via Orphanet 34 Q87.8

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 bone and 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:

41
Bone, 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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