MCID: OKH002
MIFTS: 7

Okihiro Syndrome Due to 20q13 Microdeletion

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

Aliases & Classifications for Okihiro Syndrome Due to 20q13 Microdeletion

MalaCards integrated aliases for Okihiro Syndrome Due to 20q13 Microdeletion:

Name: Okihiro Syndrome Due to 20q13 Microdeletion 58
Duane-Radial Ray Syndrome Due to Monosomy 20q13 58
Okihiro Syndrome Due to Monosomy 20q13 58
Okihiro Syndrome Due to Del(20)(q13) 58

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA261638

Summaries for Okihiro Syndrome Due to 20q13 Microdeletion

MalaCards based summary : Okihiro Syndrome Due to 20q13 Microdeletion, is also known as duane-radial ray syndrome due to monosomy 20q13. An important gene associated with Okihiro Syndrome Due to 20q13 Microdeletion is SALL4 (Spalt Like Transcription Factor 4). Affiliated tissues include eye.

Related Diseases for Okihiro Syndrome Due to 20q13 Microdeletion

Symptoms & Phenotypes for Okihiro Syndrome Due to 20q13 Microdeletion

Drugs & Therapeutics for Okihiro Syndrome Due to 20q13 Microdeletion

Search Clinical Trials , NIH Clinical Center for Okihiro Syndrome Due to 20q13 Microdeletion

Genetic Tests for Okihiro Syndrome Due to 20q13 Microdeletion

Anatomical Context for Okihiro Syndrome Due to 20q13 Microdeletion

MalaCards organs/tissues related to Okihiro Syndrome Due to 20q13 Microdeletion:

40
Eye

Publications for Okihiro Syndrome Due to 20q13 Microdeletion

Variations for Okihiro Syndrome Due to 20q13 Microdeletion

Expression for Okihiro Syndrome Due to 20q13 Microdeletion

Search GEO for disease gene expression data for Okihiro Syndrome Due to 20q13 Microdeletion.

Pathways for Okihiro Syndrome Due to 20q13 Microdeletion

GO Terms for Okihiro Syndrome Due to 20q13 Microdeletion

Sources for Okihiro Syndrome Due to 20q13 Microdeletion

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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