Human Phenotype Ontology

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
..Intermittent thrombocytopenia (HP:0004854)

Term ID:

4854

Name:

Intermittent thrombocytopenia

Synonym:

Definition:

Reduced platelet count that occurs sporadically, i.e., it comes and goes.

Comments:

Reference:

HP:0004854

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amegakaryocytic thrombocytopenia (HP:0004859)

Autoimmune thrombocytopenia (HP:0001973)

Congenital thrombocytopenia (HP:0001905)

Heparin-induced thrombocytopenia (HP:0011874)

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:0004854	HP:0004854	Intermittent thrombocytopenia	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0004854	HP:0004854	Intermittent thrombocytopenia	0	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease	.	23
HP:0004854	HP:0004854	Intermittent thrombocytopenia	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0004854	HP:0004854	Intermittent thrombocytopenia	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0004854	HP:0004854	Intermittent thrombocytopenia	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome

Genes (5) :G6PC3 GP1BA TFRC WAS WDR1

Diseases (5) :OMIM:612541 OMIM:177820 OMIM:616740 OMIM:313900 OMIM:150550

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