MCID: DVR007
MIFTS: 13

Diverticulosis of Bowel, Hernia, and Retinal Detachment

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Diverticulosis of Bowel, Hernia, and Retinal Detachment

MalaCards integrated aliases for Diverticulosis of Bowel, Hernia, and Retinal Detachment:

Name: Diverticulosis of Bowel, Hernia, and Retinal Detachment 56
Marfanoid Syndrome, De Silva Type 58

Characteristics:

Orphanet epidemiological data:

58
marfanoid syndrome, de silva type
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
diverticulosis of bowel, hernia, and retinal detachment:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 223330
UMLS via Orphanet 72 C1857227
Orphanet 58 ORPHA2464
MedGen 41 C1857227

Summaries for Diverticulosis of Bowel, Hernia, and Retinal Detachment

MalaCards based summary : Diverticulosis of Bowel, Hernia, and Retinal Detachment, is also known as marfanoid syndrome, de silva type. Affiliated tissues include colon, and related phenotypes are inguinal hernia and strabismus

More information from OMIM: 223330

Related Diseases for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Symptoms & Phenotypes for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Human phenotypes related to Diverticulosis of Bowel, Hernia, and Retinal Detachment:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 HP:0000023
2 strabismus 31 HP:0000486
3 myopia 31 HP:0000545
4 retinal detachment 31 HP:0000541
5 bladder diverticulum 31 HP:0000015
6 colonic diverticula 31 HP:0002253
7 femoral hernia 31 HP:0100541
8 small bowel diverticula 31 HP:0002256

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
inguinal hernia
femoral hernia

G I:
small bowel diverticula
colon diverticula

Eyes:
strabismus
myopia
retinal detachment

G U:
bladder diverticula

Clinical features from OMIM:

223330

Drugs & Therapeutics for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Search Clinical Trials , NIH Clinical Center for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Genetic Tests for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Anatomical Context for Diverticulosis of Bowel, Hernia, and Retinal Detachment

MalaCards organs/tissues related to Diverticulosis of Bowel, Hernia, and Retinal Detachment:

40
Colon

Publications for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Articles related to Diverticulosis of Bowel, Hernia, and Retinal Detachment:

# Title Authors PMID Year
1
Unusual complications in siblings with marfanoid phenotype. 56
8976669 1996
2
Visceral diverticula and the Marfan syndrome. 56
13880014 1962

Variations for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Expression for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Search GEO for disease gene expression data for Diverticulosis of Bowel, Hernia, and Retinal Detachment.

Pathways for Diverticulosis of Bowel, Hernia, and Retinal Detachment

GO Terms for Diverticulosis of Bowel, Hernia, and Retinal Detachment

Sources for Diverticulosis of Bowel, Hernia, and Retinal Detachment

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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