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 57

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive.(see 107300)


HPO:

32
antithrombin, familial hemorrhagic diathesis due to:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 207300
MedGen 42 C1859761

Summaries for Antithrombin, Familial Hemorrhagic Diathesis Due to

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

More information 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:

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892

Symptoms via clinical synopsis from OMIM:

57
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

Genetic Tests for Antithrombin, Familial Hemorrhagic Diathesis Due to

Anatomical Context for Antithrombin, Familial Hemorrhagic Diathesis Due to

Publications for Antithrombin, Familial Hemorrhagic Diathesis Due to

Articles related to Antithrombin, Familial Hemorrhagic Diathesis Due to:

# Title Authors PMID Year
1
A familial hemorhagic diathesis due to an antithrombin. 8
14015966 1963

Variations for Antithrombin, Familial Hemorrhagic Diathesis Due to

Expression for Antithrombin, Familial Hemorrhagic Diathesis Due to

Search GEO for disease gene expression data for Antithrombin, Familial Hemorrhagic Diathesis Due to.

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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