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:
Abnormal bleeding (HP:0001892)

Grandparent Node:
Vascular skin abnormality (HP:0011276)

Parent Node:
Subcutaneous hemorrhage (HP:0001933)

..Starting node
..Spontaneous hematomas (HP:0007420)

Term ID:

7420

Name:

Spontaneous hematomas

Synonym:

Definition:

Spontaneous development of hematomas (hematoma) or bruises without significant trauma.

Comments:

Reference:

HP:0007420

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bruising susceptibility (HP:0000978)

Purpura (HP:0000979)

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:0007420	HP:0007420	Spontaneous hematomas	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	178
HP:0007420	HP:0007420	Spontaneous hematomas	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0007420	HP:0007420	Spontaneous hematomas	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0007420	HP:0007420	Spontaneous hematomas	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0007420	HP:0007420	Spontaneous hematomas	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	186
HP:0007420	HP:0007420	Spontaneous hematomas	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0007420	HP:0007420	Spontaneous hematomas	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0007420	HP:0007420	Spontaneous hematomas	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0007420	HP:0007420	Spontaneous hematomas	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0007420	HP:0007420	Spontaneous hematomas	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0007420	HP:0007420	Spontaneous hematomas	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040284 - Very rare	303
HP:0007420	HP:0007420	Spontaneous hematomas	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare	303
HP:0007420	HP:0007420	Spontaneous hematomas	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	8
HP:0007420	HP:0007420	Spontaneous hematomas	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0007420	HP:0007420	Spontaneous hematomas	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0007420	HP:0007420	Spontaneous hematomas	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0007420	HP:0007420	Spontaneous hematomas	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0007420	HP:0007420	Spontaneous hematomas	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0007420	HP:0007420	Spontaneous hematomas	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0007420	HP:0007420	Spontaneous hematomas	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0007420	HP:0007420	Spontaneous hematomas	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0007420	HP:0007420	Spontaneous hematomas	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0007420	HP:0007420	Spontaneous hematomas	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0007420	HP:0007420	Spontaneous hematomas	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.	2
HP:0007420	HP:0007420	Spontaneous hematomas	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	504
HP:0007420	HP:0007420	Spontaneous hematomas	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0007420	HP:0007420	Spontaneous hematomas	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6

Genes (21) :ACVRL1 ATP7A CD109 COG8 ENG F10 F13A1 F13B F5 F8 GDF2 GP1BA GP1BB GP9 ITGA2 ITGA2B ITGB3 PRKACG SMAD4 WAS WIPF1

Diseases (14) :ORPHA:774 ORPHA:565 ORPHA:853 ORPHA:95428 ORPHA:328 ORPHA:331 OMIM:613225 ORPHA:326 ORPHA:177926 ORPHA:169805 ORPHA:274 ORPHA:849 OMIM:616176 ORPHA:906

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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