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 57 73
Exostoses, Multiple, Type 3 57 76 53
Exostoses, Multiple, 3 13
Ext3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (19p)


HPO:

32
exostoses, multiple, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600209
MedGen 42 C1838420
SNOMED-CT via HPO 69 263681008 254044004
UMLS 73 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
Skel:
multiple exostoses


Clinical features from OMIM:

600209

Human phenotypes related to Exostoses, Multiple, Type Iii:

32
# Description HPO Frequency HPO Source Accession
1 multiple exostoses 32 HP:0002762

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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