MCID: STT047
MIFTS: 7

Setting-Sun Phenomenon, Familial Benign

Categories: Genetic diseases

Aliases & Classifications for Setting-Sun Phenomenon, Familial Benign

MalaCards integrated aliases for Setting-Sun Phenomenon, Familial Benign:

Name: Setting-Sun Phenomenon, Familial Benign 57

Characteristics:

OMIM:

57
Inheritance:
multifactorial vs. autosomal dominant


HPO:

32
setting-sun phenomenon, familial benign:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 600598
MedGen 42 C1833577

Summaries for Setting-Sun Phenomenon, Familial Benign

MalaCards based summary : Setting-Sun Phenomenon, Familial Benign Affiliated tissues include eye, and related phenotypes are abnormality of the eye and upper eyelid retraction

More information from OMIM: 600598

Related Diseases for Setting-Sun Phenomenon, Familial Benign

Symptoms & Phenotypes for Setting-Sun Phenomenon, Familial Benign

Human phenotypes related to Setting-Sun Phenomenon, Familial Benign:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 upper eyelid retraction 32 HP:0500044

Symptoms via clinical synopsis from OMIM:

57
Eyes:
downward eye rotation with upper eyelid retraction and a rim of sclera visible above each iris

Clinical features from OMIM:

600598

Drugs & Therapeutics for Setting-Sun Phenomenon, Familial Benign

Search Clinical Trials , NIH Clinical Center for Setting-Sun Phenomenon, Familial Benign

Genetic Tests for Setting-Sun Phenomenon, Familial Benign

Anatomical Context for Setting-Sun Phenomenon, Familial Benign

MalaCards organs/tissues related to Setting-Sun Phenomenon, Familial Benign:

41
Eye

Publications for Setting-Sun Phenomenon, Familial Benign

Articles related to Setting-Sun Phenomenon, Familial Benign:

# Title Authors PMID Year
1
Familial benign setting-sun phenomenon in healthy newborns. 8
7634542 1995
2
The setting-sun eye phenomenon in infancy. 8
1158051 1975

Variations for Setting-Sun Phenomenon, Familial Benign

Expression for Setting-Sun Phenomenon, Familial Benign

Search GEO for disease gene expression data for Setting-Sun Phenomenon, Familial Benign.

Pathways for Setting-Sun Phenomenon, Familial Benign

GO Terms for Setting-Sun Phenomenon, Familial Benign

Sources for Setting-Sun Phenomenon, Familial Benign

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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