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 platelet count (HP:0011873)

Parent Node:
Thrombocytopenia (HP:0001873)

..Starting node
..Neonatal alloimmune thrombocytopenia (HP:0004809)

Term ID:

4809

Name:

Neonatal alloimmune thrombocytopenia

Synonym:

Definition:

Low platelet count associated with maternal platelet-specific alloantibodies.

Comments:

Reference:

HP:0004809

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amegakaryocytic thrombocytopenia (HP:0004859)

Autoimmune thrombocytopenia (HP:0001973)

Congenital thrombocytopenia (HP:0001905)

Heparin-induced thrombocytopenia (HP:0011874)

Intermittent thrombocytopenia (HP:0004854)

Macrothrombocytopenia (HP:0040185)

Post-transfusion thrombocytopenia (HP:0004813)

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:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate	23
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate	8
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate	119
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate	69
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040280 - Obligate	80
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0004809	HP:0004809	Neonatal alloimmune thrombocytopenia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56

Genes (15) :ADAR CD109 GP1BA GP1BB IFIH1 ITGA2 ITGA2B ITGB3 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1

Diseases (2) :ORPHA:51 ORPHA:853

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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