MCID: PLY152
MIFTS: 7

Polyposis, Intestinal, with Multiple Exostoses

Categories: Gastrointestinal diseases

Aliases & Classifications for Polyposis, Intestinal, with Multiple Exostoses

MalaCards integrated aliases for Polyposis, Intestinal, with Multiple Exostoses:

Name: Polyposis, Intestinal, with Multiple Exostoses 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
polyposis, intestinal, with multiple exostoses:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 175450
MedGen 41 C1868005
SNOMED-CT via HPO 68 254044004 263681008

Summaries for Polyposis, Intestinal, with Multiple Exostoses

MalaCards based summary : Polyposis, Intestinal, with Multiple Exostoses Affiliated tissues include colon, and related phenotypes are intestinal polyposis and multiple exostoses

More information from OMIM: 175450

Related Diseases for Polyposis, Intestinal, with Multiple Exostoses

Symptoms & Phenotypes for Polyposis, Intestinal, with Multiple Exostoses

Human phenotypes related to Polyposis, Intestinal, with Multiple Exostoses:

31
# Description HPO Frequency HPO Source Accession
1 intestinal polyposis 31 HP:0200008
2 multiple exostoses 31 HP:0002762

Symptoms via clinical synopsis from OMIM:

56
Skel:
multiple exostoses

G I:
multiple intestinal polyps

Clinical features from OMIM:

175450

Drugs & Therapeutics for Polyposis, Intestinal, with Multiple Exostoses

Search Clinical Trials , NIH Clinical Center for Polyposis, Intestinal, with Multiple Exostoses

Genetic Tests for Polyposis, Intestinal, with Multiple Exostoses

Anatomical Context for Polyposis, Intestinal, with Multiple Exostoses

MalaCards organs/tissues related to Polyposis, Intestinal, with Multiple Exostoses:

40
Colon

Publications for Polyposis, Intestinal, with Multiple Exostoses

Articles related to Polyposis, Intestinal, with Multiple Exostoses:

# Title Authors PMID Year
1
[Multiple cartilaginous exostoses with polyposis of stomach and colon: a new, hereditary combination different from Gardner's syndrome (author's transl)]. 56
1081041 1975

Variations for Polyposis, Intestinal, with Multiple Exostoses

Expression for Polyposis, Intestinal, with Multiple Exostoses

Search GEO for disease gene expression data for Polyposis, Intestinal, with Multiple Exostoses.

Pathways for Polyposis, Intestinal, with Multiple Exostoses

GO Terms for Polyposis, Intestinal, with Multiple Exostoses

Sources for Polyposis, Intestinal, with Multiple Exostoses

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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