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:
Abnormal platelet count (HP:0011873)

Parent Node:
Thrombocytopenia (HP:0001873)

..Starting node
..Congenital thrombocytopenia (HP:0001905)

Term ID:

1905

Name:

Congenital thrombocytopenia

Synonym:

thrombocytopenia, congenital

Definition:

Thrombocytopenia with congenital onset.

Comments:

Reference:

HP:0001905

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amegakaryocytic thrombocytopenia (HP:0004859)

Autoimmune thrombocytopenia (HP:0001973)

Heparin-induced thrombocytopenia (HP:0011874)

Intermittent thrombocytopenia (HP:0004854)

Macrothrombocytopenia (HP:0040185)

Neonatal alloimmune thrombocytopenia (HP:0004809)

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:0001905	HP:0001905	Congenital thrombocytopenia	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0001905	HP:0001905	Congenital thrombocytopenia	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0001905	HP:0001905	Congenital thrombocytopenia	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2		4
HP:0001905	HP:0001905	Congenital thrombocytopenia	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040281 - Very frequent	297
HP:0001905	HP:0001905	Congenital thrombocytopenia	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001905	HP:0001905	Congenital thrombocytopenia	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65

Genes (6) :GATA1 HOXA11 MECOM MYH9 STAT2 WAS

Diseases (6) :OMIM:300367 OMIM:605432 OMIM:616738 ORPHA:182050 OMIM:618886 OMIM:313900

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.