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 blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal thrombosis (HP:0001977)

..Starting node
..Disseminated intravascular coagulation (HP:0005521)

Term ID:

5521

Name:

Disseminated intravascular coagulation

Synonym:

Definition:

Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.

Comments:

Reference:

HP:0005521

Genes and Diseases:

Child Nodes:

........

Chronic disseminated intravascular coagulation (HP:0005520)

........

Acute disseminated intravascular coagulation (HP:0011880)

Sister Nodes:

Arterial thrombosis (HP:0004420)

Peripheral thrombosis (HP:0002641)

Thromboembolism (HP:0001907)

Venous thrombosis (HP:0004936)

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:0005521	HP:0005521	Disseminated intravascular coagulation	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0005521	HP:0005521	Disseminated intravascular coagulation	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0005521	HP:0011880	Acute disseminated intravascular coagulation	1	CL E G H
HP:0005521	HP:0005520	Chronic disseminated intravascular coagulation	1	CL E G H

Genes (28) :BCOR CD46 CFH CFI COX1 COX3 FIP1L1 HELLPAR IL6ST IRF2BP2 LIPA LPIN1 NABP1 NFS1 NLRC4 NPM1 NUMA1 PML PRKAR1A PROS1 RARA RASA1 RYR1 SERPIND1 STAT3 STAT5B TBL1XR1 ZBTB16

Diseases (11) :ORPHA:520 ORPHA:244242 ORPHA:99845 OMIM:619751 OMIM:278000 OMIM:619386 OMIM:616050 OMIM:614514 ORPHA:90307 ORPHA:466650 OMIM:612356

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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