EXT3
MCID: EXS021
MIFTS: 17

Exostoses, Multiple, Type Iii (EXT3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Exostoses, Multiple, Type Iii

MalaCards integrated aliases for Exostoses, Multiple, Type Iii:

Name: Exostoses, Multiple, Type Iii 58 74
Exostoses, Multiple, Type 3 58 77 54
Exostoses, Multiple, 3 13
Ext3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (19p)


HPO:

33
exostoses, multiple, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600209
MedGen 43 C1838420
SNOMED-CT via HPO 70 254044004 263681008
UMLS 74 C1838420

Summaries for Exostoses, Multiple, Type Iii

MalaCards based summary : Exostoses, Multiple, Type Iii, also known as exostoses, multiple, type 3, is related to exostoses, multiple, type i and exostoses, multiple, type ii. An important gene associated with Exostoses, Multiple, Type Iii is EXT3 (Exostoses (Multiple) 3). Affiliated tissues include bone, and related phenotype is multiple exostoses.

Wikipedia : 77 Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder... more...

Description from OMIM: 600209

Related Diseases for Exostoses, Multiple, Type Iii

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii

Diseases related to Exostoses, Multiple, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 11.1
2 exostoses, multiple, type ii 11.1
3 perrault syndrome 1 11.1
4 hereditary multiple exostoses 11.1
5 hereditary multiple osteochondromas 11.1

Graphical network of the top 20 diseases related to Exostoses, Multiple, Type Iii:



Diseases related to Exostoses, Multiple, Type Iii

Symptoms & Phenotypes for Exostoses, Multiple, Type Iii

Human phenotypes related to Exostoses, Multiple, Type Iii:

33
# Description HPO Frequency HPO Source Accession
1 multiple exostoses 33 HP:0002762

Symptoms via clinical synopsis from OMIM:

58
Skel:
multiple exostoses

Clinical features from OMIM:

600209

Drugs & Therapeutics for Exostoses, Multiple, Type Iii

Search Clinical Trials , NIH Clinical Center for Exostoses, Multiple, Type Iii

Genetic Tests for Exostoses, Multiple, Type Iii

Anatomical Context for Exostoses, Multiple, Type Iii

MalaCards organs/tissues related to Exostoses, Multiple, Type Iii:

42
Bone

Publications for Exostoses, Multiple, Type Iii

Variations for Exostoses, Multiple, Type Iii

Expression for Exostoses, Multiple, Type Iii

Search GEO for disease gene expression data for Exostoses, Multiple, Type Iii.

Pathways for Exostoses, Multiple, Type Iii

GO Terms for Exostoses, Multiple, Type Iii

Sources for Exostoses, Multiple, Type Iii

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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