Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the coagulation cascade (HP:0003256)

Parent Node:
Abnormality of the extrinsic pathway (HP:0010988)

Parent Node:
Abnormality of the intrinsic pathway (HP:0010989)

..Starting node
..Reduced antithrombin III activity (HP:0001976)

Term ID:

1976

Name:

Reduced antithrombin III activity

Synonym:

Anti-thrombin III deficiency; Antithrombin III deficiency; Decreased antithrombin III

Definition:

An abnormality of coagulation related to a decreased concentration of antithrombin-III.

Comments:

Reference:

HP:0001976

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal factor VIII activity (HP:0030976)

Reduced factor IX activity (HP:0011858)

Reduced factor XI activity (HP:0001929)

Reduced factor XII activity (HP:0004841)

Reduced kininogen activity (HP:0005527)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional	38
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040281 - Very frequent	88
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0001976	HP:0001976	Reduced antithrombin III activity	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80

Genes (14) :AHCY ALG6 ALG8 B4GALT1 DPAGT1 DPM1 DPM2 MGAT2 MPI PGM1 PMM2 SERPINC1 SLC37A4 SRD5A3

Diseases (20) :ORPHA:88618 OMIM:603147 ORPHA:79325 OMIM:608104 ORPHA:79332 OMIM:608093 ORPHA:86309 OMIM:608799 ORPHA:79322 ORPHA:329178 OMIM:212066 OMIM:602579 OMIM:614921 OMIM:212065 ORPHA:79318 OMIM:613118 ORPHA:82 OMIM:619525 OMIM:612379 ORPHA:324737

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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