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:
Increased mean platelet volume (HP:0011877)

Parent Node:
Thrombocytopenia (HP:0001873)

..Starting node
..Macrothrombocytopenia (HP:0040185)

Term ID:

40185

Name:

Macrothrombocytopenia

Synonym:

Macrothrombozytopenia

Definition:

Comments:

Reference:

HP:0040185

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)

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:0040185	HP:0040185	Macrothrombocytopenia	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent	29
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	23
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	8
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	21
HP:0040185	HP:0040185	Macrothrombocytopenia	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0040185	HP:0040185	Macrothrombocytopenia	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0040185	HP:0040185	Macrothrombocytopenia	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0040185	HP:0040185	Macrothrombocytopenia	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.	2
HP:0040185	HP:0040185	Macrothrombocytopenia	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0040185	HP:0040185	Macrothrombocytopenia	0	TUBA8 CL E G H	51807	12410	OMIM:619840			21
HP:0040185	HP:0040185	Macrothrombocytopenia	0	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related		3

Genes (12) :DIAPH1 GATA1 GFI1B GP1BA GP1BB GP9 ITGA2B MYH9 PRKACG SLC35A1 TUBA8 TUBB1

Diseases (11) :OMIM:124900 ORPHA:67044 OMIM:187900 ORPHA:274 OMIM:231200 OMIM:187800 OMIM:155100 OMIM:616176 OMIM:603585 OMIM:619840 OMIM:613112

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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