MCID: PLY152
MIFTS: 6

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
polyposis, intestinal, with multiple exostoses:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 175450
MedGen 43 C1868005
SNOMED-CT via HPO 70 254044004 263681008

Summaries for Polyposis, Intestinal, with Multiple Exostoses

MalaCards based summary : Polyposis, Intestinal, with Multiple Exostoses Related phenotypes are intestinal polyposis and multiple exostoses

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 intestinal polyposis 33 HP:0200008
2 multiple exostoses 33 HP:0002762

Symptoms via clinical synopsis from OMIM:

58
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

Publications for Polyposis, Intestinal, with Multiple Exostoses

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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