MCID: OKH002
MIFTS: 9

Okihiro Syndrome Due to 20q13 Microdeletion

Categories: Eye diseases, Bone 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 59
Duane-Radial Ray Syndrome Due to Monosomy 20q13 59
Okihiro Syndrome Due to Monosomy 20q13 59
Okihiro Syndrome Due to Del(20)(q13) 59

Classifications:



External Ids:

Orphanet 59 ORPHA261638
ICD10 via Orphanet 34 Q87.8

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 bone and 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:

41
Bone, 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 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
Content
Loading form....