MCID: STT047
MIFTS: 8

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 56

Characteristics:

OMIM:

56
Inheritance:
multifactorial vs. autosomal dominant


HPO:

31
setting-sun phenomenon, familial benign:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 56 600598
MedGen 41 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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 upper eyelid retraction 31 HP:0500044

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56
7634542 1995
2
The setting-sun eye phenomenon in infancy. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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