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 volume (HP:0011876)

Parent Node:
Increased mean platelet volume (HP:0011877)

..Starting node
..Giant platelets (HP:0001902)

Term ID:

1902

Name:

Giant platelets

Synonym:

Definition:

Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).

Comments:

Reference:

HP:0001902

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macrothrombocytopenia (HP:0040185)

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:0001902	HP:0001902	Giant platelets	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0001902	HP:0001902	Giant platelets	0	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency	.	53
HP:0001902	HP:0001902	Giant platelets	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	23
HP:0001902	HP:0001902	Giant platelets	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0001902	HP:0001902	Giant platelets	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	8
HP:0001902	HP:0001902	Giant platelets	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0001902	HP:0001902	Giant platelets	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	21
HP:0001902	HP:0001902	Giant platelets	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0001902	HP:0001902	Giant platelets	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0001902	HP:0001902	Giant platelets	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001902	HP:0001902	Giant platelets	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0001902	HP:0001902	Giant platelets	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0001902	HP:0001902	Giant platelets	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24

Genes (9) :ABCG8 CD36 GP1BA GP1BB GP9 ITGA2B LBR MYH9 SLC35A1

Diseases (9) :OMIM:210250 OMIM:608404 ORPHA:274 OMIM:231200 OMIM:187800 OMIM:169400 OMIM:155100 ORPHA:182050 ORPHA:238459

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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