Human Phenotype Ontology

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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 coagulation (HP:0001928)

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

..Starting node
..Abnormality of prothrombin (HP:0012200)

Term ID:

12200

Name:

Abnormality of prothrombin

Synonym:

Definition:

An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.

Comments:

Reference:

HP:0012200

Genes and Diseases:

Child Nodes:

........

Reduced prothrombin consumption (HP:0003337)

........

Prolonged prothrombin time (HP:0008151)

........

Reduced prothrombin activity (HP:0012201)

........

Reduced prothrombin antigen (HP:0040250)

Sister Nodes:

Abnormality of the common coagulation pathway (HP:0010990)

Abnormality of the extrinsic pathway (HP:0010988)

Abnormality of the intrinsic pathway (HP:0010989)

Abnormality of the protein C anticoagulant pathway (HP:0030780)

Abnormality of von Willebrand factor (HP:0012146)

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:0012200	HP:0012200	Abnormality of prothrombin	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0012200	HP:0012200	Abnormality of prothrombin	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0012200	HP:0012200	Abnormality of prothrombin	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0012200	HP:0012200	Abnormality of prothrombin	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0012200	HP:0012200	Abnormality of prothrombin	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012200	HP:0012200	Abnormality of prothrombin	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0012200	HP:0012200	Abnormality of prothrombin	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0012200	HP:0012200	Abnormality of prothrombin	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0012200	HP:0012200	Abnormality of prothrombin	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0012200	HP:0012200	Abnormality of prothrombin	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0012200	HP:0012200	Abnormality of prothrombin	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0012200	HP:0012200	Abnormality of prothrombin	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0012200	HP:0012200	Abnormality of prothrombin	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0012200	HP:0012200	Abnormality of prothrombin	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0012200	HP:0012200	Abnormality of prothrombin	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0012200	HP:0012200	Abnormality of prothrombin	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0012200	HP:0012200	Abnormality of prothrombin	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0012200	HP:0012200	Abnormality of prothrombin	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0012200	HP:0012200	Abnormality of prothrombin	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0012200	HP:0012200	Abnormality of prothrombin	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0012200	HP:0012200	Abnormality of prothrombin	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0012200	HP:0012200	Abnormality of prothrombin	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0012200	HP:0012200	Abnormality of prothrombin	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0012200	HP:0012200	Abnormality of prothrombin	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0012200	HP:0012200	Abnormality of prothrombin	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0012200	HP:0012200	Abnormality of prothrombin	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0012200	HP:0012200	Abnormality of prothrombin	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0012200	HP:0012200	Abnormality of prothrombin	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012200	HP:0012200	Abnormality of prothrombin	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012200	HP:0012200	Abnormality of prothrombin	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0012200	HP:0012200	Abnormality of prothrombin	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0012200	HP:0012200	Abnormality of prothrombin	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0012200	HP:0012200	Abnormality of prothrombin	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0012200	HP:0012200	Abnormality of prothrombin	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012200	HP:0012200	Abnormality of prothrombin	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0012200	HP:0012200	Abnormality of prothrombin	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0012200	HP:0012200	Abnormality of prothrombin	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0012200	HP:0012200	Abnormality of prothrombin	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0012200	HP:0012200	Abnormality of prothrombin	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0012200	HP:0012200	Abnormality of prothrombin	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0012200	HP:0012200	Abnormality of prothrombin	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012200	HP:0012200	Abnormality of prothrombin	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0012200	HP:0012200	Abnormality of prothrombin	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0012200	HP:0012200	Abnormality of prothrombin	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012200	HP:0012200	Abnormality of prothrombin	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0012200	HP:0012200	Abnormality of prothrombin	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012200	HP:0012200	Abnormality of prothrombin	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0012200	HP:0012200	Abnormality of prothrombin	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0012200	HP:0012200	Abnormality of prothrombin	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0012200	HP:0012200	Abnormality of prothrombin	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0012200	HP:0012200	Abnormality of prothrombin	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0012200	HP:0012200	Abnormality of prothrombin	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0012200	HP:0012200	Abnormality of prothrombin	0	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0012200	HP:0032199	Abnormal prothrombin time	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0012200	HP:0032199	Abnormal prothrombin time	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0012200	HP:0032199	Abnormal prothrombin time	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0012200	HP:0032199	Abnormal prothrombin time	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0012200	HP:0032199	Abnormal prothrombin time	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012200	HP:0032199	Abnormal prothrombin time	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0012200	HP:0032199	Abnormal prothrombin time	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0012200	HP:0032199	Abnormal prothrombin time	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0012200	HP:0032199	Abnormal prothrombin time	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0012200	HP:0032199	Abnormal prothrombin time	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0012200	HP:0032199	Abnormal prothrombin time	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0012200	HP:0032199	Abnormal prothrombin time	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0012200	HP:0032199	Abnormal prothrombin time	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0012200	HP:0032199	Abnormal prothrombin time	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0012200	HP:0032199	Abnormal prothrombin time	1	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0012200	HP:0032199	Abnormal prothrombin time	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0012200	HP:0040250	Reduced prothrombin antigen	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040281 - Very frequent	44
HP:0012200	HP:0032199	Abnormal prothrombin time	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0012200	HP:0032199	Abnormal prothrombin time	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0012200	HP:0032199	Abnormal prothrombin time	1	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0012200	HP:0032199	Abnormal prothrombin time	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0012200	HP:0003337	Reduced prothrombin consumption	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0012200	HP:0032199	Abnormal prothrombin time	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0012200	HP:0032199	Abnormal prothrombin time	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0012200	HP:0032199	Abnormal prothrombin time	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0012200	HP:0032199	Abnormal prothrombin time	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0012200	HP:0032199	Abnormal prothrombin time	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0012200	HP:0032199	Abnormal prothrombin time	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0012200	HP:0032199	Abnormal prothrombin time	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012200	HP:0032199	Abnormal prothrombin time	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012200	HP:0032199	Abnormal prothrombin time	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0012200	HP:0032199	Abnormal prothrombin time	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0012200	HP:0032199	Abnormal prothrombin time	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0012200	HP:0032199	Abnormal prothrombin time	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0012200	HP:0032199	Abnormal prothrombin time	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012200	HP:0032199	Abnormal prothrombin time	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0012200	HP:0032199	Abnormal prothrombin time	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0012200	HP:0032199	Abnormal prothrombin time	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0012200	HP:0032199	Abnormal prothrombin time	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0012200	HP:0032199	Abnormal prothrombin time	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0012200	HP:0032199	Abnormal prothrombin time	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0012200	HP:0032199	Abnormal prothrombin time	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012200	HP:0032199	Abnormal prothrombin time	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0012200	HP:0032199	Abnormal prothrombin time	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0012200	HP:0032199	Abnormal prothrombin time	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012200	HP:0032199	Abnormal prothrombin time	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0012200	HP:0032199	Abnormal prothrombin time	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012200	HP:0032199	Abnormal prothrombin time	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0012200	HP:0032199	Abnormal prothrombin time	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0012200	HP:0032199	Abnormal prothrombin time	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0012200	HP:0032199	Abnormal prothrombin time	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0012200	HP:0032199	Abnormal prothrombin time	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0012200	HP:0032199	Abnormal prothrombin time	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0012200	HP:0040250	Reduced prothrombin antigen	1	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0012200	HP:0008151	Prolonged prothrombin time	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0012200	HP:0008151	Prolonged prothrombin time	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0012200	HP:0032198	Decreased prothrombin time	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0012200	HP:0008151	Prolonged prothrombin time	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0012200	HP:0008151	Prolonged prothrombin time	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0012200	HP:0008151	Prolonged prothrombin time	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0012200	HP:0008151	Prolonged prothrombin time	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0012200	HP:0008151	Prolonged prothrombin time	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0012200	HP:0008151	Prolonged prothrombin time	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0012200	HP:0008151	Prolonged prothrombin time	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0012200	HP:0008151	Prolonged prothrombin time	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0012200	HP:0008151	Prolonged prothrombin time	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0012200	HP:0008151	Prolonged prothrombin time	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0012200	HP:0008151	Prolonged prothrombin time	2	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040280 - Obligate	33
HP:0012200	HP:0008151	Prolonged prothrombin time	2	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0012200	HP:0008151	Prolonged prothrombin time	2	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040281 - Very frequent	44
HP:0012200	HP:0008151	Prolonged prothrombin time	2	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0012200	HP:0008151	Prolonged prothrombin time	2	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0012200	HP:0008151	Prolonged prothrombin time	2	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent	70
HP:0012200	HP:0008151	Prolonged prothrombin time	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0012200	HP:0008151	Prolonged prothrombin time	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0012200	HP:0008151	Prolonged prothrombin time	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0012200	HP:0008151	Prolonged prothrombin time	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0012200	HP:0008151	Prolonged prothrombin time	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0012200	HP:0008151	Prolonged prothrombin time	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0012200	HP:0008151	Prolonged prothrombin time	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0012200	HP:0008151	Prolonged prothrombin time	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012200	HP:0008151	Prolonged prothrombin time	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012200	HP:0008151	Prolonged prothrombin time	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0012200	HP:0032198	Decreased prothrombin time	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0012200	HP:0008151	Prolonged prothrombin time	2	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0012200	HP:0008151	Prolonged prothrombin time	2	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0012200	HP:0008151	Prolonged prothrombin time	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012200	HP:0008151	Prolonged prothrombin time	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0012200	HP:0008151	Prolonged prothrombin time	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0012200	HP:0008151	Prolonged prothrombin time	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0012200	HP:0008151	Prolonged prothrombin time	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0012200	HP:0008151	Prolonged prothrombin time	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0012200	HP:0008151	Prolonged prothrombin time	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0012200	HP:0008151	Prolonged prothrombin time	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012200	HP:0008151	Prolonged prothrombin time	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0012200	HP:0008151	Prolonged prothrombin time	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0012200	HP:0008151	Prolonged prothrombin time	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0012200	HP:0008151	Prolonged prothrombin time	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0012200	HP:0008151	Prolonged prothrombin time	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012200	HP:0008151	Prolonged prothrombin time	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0012200	HP:0008151	Prolonged prothrombin time	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0012200	HP:0008151	Prolonged prothrombin time	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0012200	HP:0008151	Prolonged prothrombin time	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0012200	HP:0008151	Prolonged prothrombin time	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0012200	HP:0008151	Prolonged prothrombin time	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101

Genes (49) :ACAD9 ADK AGA AHCY AKR1D1 ALG12 CD46 CFH CFI CLPB COG8 CYP7B1 EFL1 F10 F2 F5 F7 FAH GFI1B GGCX GNE GPR35 HADH HELLPAR HLA-DQA1 HLA-DQB1 HMGCL LMAN1 MCFD2 MICOS13 MST1 MTTP NBAS NGLY1 NR1H4 OTC PET100 PGM1 PMM2 PRF1 RINT1 SEMA4D SLC25A13 SLC30A10 SLC37A4 SOS2 TCF4 TRMU VKORC1

Diseases (45) :ORPHA:99901 OMIM:614300 OMIM:208400 ORPHA:88618 ORPHA:79303 ORPHA:79324 ORPHA:244242 OMIM:616271 ORPHA:95428 OMIM:613812 OMIM:617941 ORPHA:328 OMIM:227600 ORPHA:325 OMIM:613679 OMIM:227400 ORPHA:327 OMIM:276700 OMIM:187900 OMIM:610842 OMIM:277450 ORPHA:3166 ORPHA:171 ORPHA:71212 OMIM:212750 ORPHA:20 OMIM:246450 ORPHA:35909 OMIM:618329 ORPHA:14 OMIM:616483 ORPHA:404454 OMIM:617049 OMIM:311250 OMIM:619055 OMIM:614921 OMIM:212065 OMIM:603553 OMIM:618641 ORPHA:247598 ORPHA:309854 OMIM:619525 OMIM:616559 OMIM:613070 OMIM:607473

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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