MCID: ANT082
MIFTS: 7

Antithrombin, Familial Hemorrhagic Diathesis Due to

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Antithrombin, Familial Hemorrhagic Diathesis Due to

MalaCards integrated aliases for Antithrombin, Familial Hemorrhagic Diathesis Due to:

Name: Antithrombin, Familial Hemorrhagic Diathesis Due to 58

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive.(see 107300)


HPO:

33
antithrombin, familial hemorrhagic diathesis due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 207300
MedGen 43 C1859761
SNOMED-CT via HPO 70 248250000 258211005 64779008

Summaries for Antithrombin, Familial Hemorrhagic Diathesis Due to

MalaCards based summary : Antithrombin, Familial Hemorrhagic Diathesis Due to Related phenotype is abnormal bleeding.

Description from OMIM: 207300

Related Diseases for Antithrombin, Familial Hemorrhagic Diathesis Due to

Symptoms & Phenotypes for Antithrombin, Familial Hemorrhagic Diathesis Due to

Human phenotypes related to Antithrombin, Familial Hemorrhagic Diathesis Due to:

33
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 33 HP:0001892

Symptoms via clinical synopsis from OMIM:

58
Heme:
antithrombin
hemorrhage

Clinical features from OMIM:

207300

Drugs & Therapeutics for Antithrombin, Familial Hemorrhagic Diathesis Due to

Search Clinical Trials , NIH Clinical Center for Antithrombin, Familial Hemorrhagic Diathesis Due to

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Expression for Antithrombin, Familial Hemorrhagic Diathesis Due to

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Pathways for Antithrombin, Familial Hemorrhagic Diathesis Due to

GO Terms for Antithrombin, Familial Hemorrhagic Diathesis Due to

Sources for Antithrombin, Familial Hemorrhagic Diathesis Due to

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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