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:
Purpura (HP:0000979)

Parent Node:
Macular purpura (HP:0031365)

..Starting node
..Petechiae (HP:0000967)

Term ID:

967

Name:

Petechiae

Synonym:

Definition:

Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.

Comments:

Reference:

HP:0000967

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ecchymosis (HP:0031364)

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:0000967	HP:0000967	Petechiae	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0000967	HP:0000967	Petechiae	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0000967	HP:0000967	Petechiae	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0000967	HP:0000967	Petechiae	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0000967	HP:0000967	Petechiae	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0000967	HP:0000967	Petechiae	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0000967	HP:0000967	Petechiae	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0000967	HP:0000967	Petechiae	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0000967	HP:0000967	Petechiae	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.	13
HP:0000967	HP:0000967	Petechiae	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0000967	HP:0000967	Petechiae	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0000967	HP:0000967	Petechiae	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000967	HP:0000967	Petechiae	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0000967	HP:0000967	Petechiae	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0000967	HP:0000967	Petechiae	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0000967	HP:0000967	Petechiae	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000967	HP:0000967	Petechiae	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0000967	HP:0000967	Petechiae	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000967	HP:0000967	Petechiae	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0000967	HP:0000967	Petechiae	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0000967	HP:0000967	Petechiae	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0000967	HP:0000967	Petechiae	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	23
HP:0000967	HP:0000967	Petechiae	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0000967	HP:0000967	Petechiae	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	8
HP:0000967	HP:0000967	Petechiae	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0000967	HP:0000967	Petechiae	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0000967	HP:0000967	Petechiae	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0000967	HP:0000967	Petechiae	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	119
HP:0000967	HP:0000967	Petechiae	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16	.	69
HP:0000967	HP:0000967	Petechiae	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	69
HP:0000967	HP:0000967	Petechiae	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent	80
HP:0000967	HP:0000967	Petechiae	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0000967	HP:0000967	Petechiae	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0000967	HP:0000967	Petechiae	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0000967	HP:0000967	Petechiae	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000967	HP:0000967	Petechiae	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0000967	HP:0000967	Petechiae	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000967	HP:0000967	Petechiae	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000967	HP:0000967	Petechiae	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000967	HP:0000967	Petechiae	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0000967	HP:0000967	Petechiae	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0000967	HP:0000967	Petechiae	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0000967	HP:0000967	Petechiae	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0000967	HP:0000967	Petechiae	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional	67
HP:0000967	HP:0000967	Petechiae	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0000967	HP:0000967	Petechiae	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0000967	HP:0000967	Petechiae	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0000967	HP:0000967	Petechiae	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0000967	HP:0000967	Petechiae	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0000967	HP:0000967	Petechiae	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0000967	HP:0000967	Petechiae	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0000967	HP:0000967	Petechiae	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0000967	HP:0000967	Petechiae	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0000967	HP:0000967	Petechiae	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0000967	HP:0000967	Petechiae	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0000967	HP:0000967	Petechiae	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0000967	HP:0000967	Petechiae	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0000967	HP:0000967	Petechiae	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0000967	HP:0000967	Petechiae	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0000967	HP:0000967	Petechiae	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1

Genes (52) :APOE BCOR CALR CASP10 CD109 CLCN7 ETHE1 ETV6 FCGR2C FERMT3 FIP1L1 FYB1 GATA1 GBA1 GFI1B GIMAP5 GNA14 GP1BA GP1BB GP9 HOXA11 IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 LCP2 MPL NABP1 NEU1 NPM1 NUMA1 OCLN PEPD PML PRF1 PRKAR1A RAB27A RARA SAMD9 STAT3 STAT5B STX11 STXBP2 TBL1XR1 TET2 TREX1 UNC13D USP18 WAS WIPF1 ZBTB16

Diseases (34) :ORPHA:158029 ORPHA:520 ORPHA:824 OMIM:603909 ORPHA:853 OMIM:611490 OMIM:602473 ORPHA:51188 OMIM:616216 ORPHA:3002 OMIM:612840 OMIM:273900 OMIM:314050 OMIM:300367 OMIM:608013 OMIM:187900 OMIM:619463 ORPHA:1063 ORPHA:274 OMIM:153670 OMIM:605432 OMIM:187800 OMIM:619374 ORPHA:93400 OMIM:251290 OMIM:170100 ORPHA:540 ORPHA:79477 OMIM:617053 OMIM:225750 OMIM:617397 OMIM:313900 OMIM:301000 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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