MCID: EPS040
MIFTS: 6

Epistaxis, Hereditary

Aliases & Classifications for Epistaxis, Hereditary

MalaCards integrated aliases for Epistaxis, Hereditary:

Name: Epistaxis, Hereditary 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
epistaxis, hereditary:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 132500
MedGen 41 C0339819
SNOMED-CT via HPO 68 12441001 249366005 263681008

Summaries for Epistaxis, Hereditary

MalaCards based summary : Epistaxis, Hereditary An important gene associated with Epistaxis, Hereditary is ENG (Endoglin). Related phenotype is epistaxis.

More information from OMIM: 132500

Related Diseases for Epistaxis, Hereditary

Symptoms & Phenotypes for Epistaxis, Hereditary

Human phenotypes related to Epistaxis, Hereditary:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Nose:
epistaxis

Clinical features from OMIM®:

132500 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epistaxis, Hereditary

Search Clinical Trials , NIH Clinical Center for Epistaxis, Hereditary

Genetic Tests for Epistaxis, Hereditary

Anatomical Context for Epistaxis, Hereditary

Publications for Epistaxis, Hereditary

Variations for Epistaxis, Hereditary

Expression for Epistaxis, Hereditary

Search GEO for disease gene expression data for Epistaxis, Hereditary.

Pathways for Epistaxis, Hereditary

GO Terms for Epistaxis, Hereditary

Sources for Epistaxis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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