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:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormality of thrombocytes (HP:0001872)

..Starting node
..Abnormal platelet volume (HP:0011876)

Term ID:

11876

Name:

Abnormal platelet volume

Synonym:

Definition:

Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.

Comments:

Reference:

HP:0011876

Genes and Diseases:

Child Nodes:

........

Decreased mean platelet volume (HP:0005537)

........

Increased mean platelet volume (HP:0011877)

................... HP:0001902 Giant platelets
................... HP:0040185 Macrothrombocytopenia

Sister Nodes:

Abnormal platelet count (HP:0011873)

Abnormal platelet function (HP:0011869)

Abnormal platelet morphology (HP:0011875)

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:0011876	HP:0011876	Abnormal platelet volume	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0011876	HP:0011876	Abnormal platelet volume	0	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15		9
HP:0011876	HP:0011876	Abnormal platelet volume	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011876	HP:0011876	Abnormal platelet volume	0	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency		53
HP:0011876	HP:0011876	Abnormal platelet volume	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0011876	HP:0011876	Abnormal platelet volume	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0011876	HP:0011876	Abnormal platelet volume	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0011876	HP:0011876	Abnormal platelet volume	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21		8
HP:0011876	HP:0011876	Abnormal platelet volume	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0011876	HP:0011876	Abnormal platelet volume	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011876	HP:0011876	Abnormal platelet volume	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia		29
HP:0011876	HP:0011876	Abnormal platelet volume	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011876	HP:0011876	Abnormal platelet volume	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011876	HP:0011876	Abnormal platelet volume	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011876	HP:0011876	Abnormal platelet volume	0	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0011876	HP:0011876	Abnormal platelet volume	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011876	HP:0011876	Abnormal platelet volume	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0011876	HP:0011876	Abnormal platelet volume	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0011876	HP:0011876	Abnormal platelet volume	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19		2
HP:0011876	HP:0011876	Abnormal platelet volume	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0011876	HP:0011876	Abnormal platelet volume	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011876	HP:0011876	Abnormal platelet volume	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011876	HP:0011876	Abnormal platelet volume	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011876	HP:0011876	Abnormal platelet volume	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011876	HP:0011876	Abnormal platelet volume	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0011876	HP:0011876	Abnormal platelet volume	0	TUBA8 CL E G H	51807	12410	OMIM:619840			21
HP:0011876	HP:0011876	Abnormal platelet volume	0	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related		3
HP:0011876	HP:0011876	Abnormal platelet volume	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1		65
HP:0011876	HP:0011876	Abnormal platelet volume	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011876	HP:0011877	Increased mean platelet volume	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0011876	HP:0011877	Increased mean platelet volume	1	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15		9
HP:0011876	HP:0005537	Decreased mean platelet volume	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0011876	HP:0011877	Increased mean platelet volume	1	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency		53
HP:0011876	HP:0011877	Increased mean platelet volume	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent	6
HP:0011876	HP:0011877	Increased mean platelet volume	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0011876	HP:0011877	Increased mean platelet volume	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0011876	HP:0011877	Increased mean platelet volume	1	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21		8
HP:0011876	HP:0011877	Increased mean platelet volume	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0011876	HP:0005537	Decreased mean platelet volume	1	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0011876	HP:0011877	Increased mean platelet volume	1	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia		29
HP:0011876	HP:0011877	Increased mean platelet volume	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011876	HP:0011877	Increased mean platelet volume	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011876	HP:0011877	Increased mean platelet volume	1	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011876	HP:0011877	Increased mean platelet volume	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0011876	HP:0011877	Increased mean platelet volume	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011876	HP:0011877	Increased mean platelet volume	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0011876	HP:0011877	Increased mean platelet volume	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0011876	HP:0011877	Increased mean platelet volume	1	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19		2
HP:0011876	HP:0011877	Increased mean platelet volume	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS	.	80
HP:0011876	HP:0011877	Increased mean platelet volume	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011876	HP:0011877	Increased mean platelet volume	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011876	HP:0011877	Increased mean platelet volume	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0011876	HP:0011877	Increased mean platelet volume	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0011876	HP:0011877	Increased mean platelet volume	1	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG		24
HP:0011876	HP:0011877	Increased mean platelet volume	1	TUBA8 CL E G H	51807	12410	OMIM:619840			21
HP:0011876	HP:0011877	Increased mean platelet volume	1	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related		3
HP:0011876	HP:0005537	Decreased mean platelet volume	1	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0011876	HP:0005537	Decreased mean platelet volume	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0011876	HP:0001902	Giant platelets	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0011876	HP:0001902	Giant platelets	2	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency	.	53
HP:0011876	HP:0040185	Macrothrombocytopenia	2	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent	29
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011876	HP:0001902	Giant platelets	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	23
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	23
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011876	HP:0001902	Giant platelets	2	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011876	HP:0001902	Giant platelets	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	8
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	8
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011876	HP:0001902	Giant platelets	2	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011876	HP:0001902	Giant platelets	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	21
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040281 - Very frequent	21
HP:0011876	HP:0001902	Giant platelets	2	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011876	HP:0040185	Macrothrombocytopenia	2	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011876	HP:0001902	Giant platelets	2	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011876	HP:0040185	Macrothrombocytopenia	2	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16		69
HP:0011876	HP:0001902	Giant platelets	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011876	HP:0001902	Giant platelets	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0011876	HP:0040185	Macrothrombocytopenia	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0011876	HP:0001902	Giant platelets	2	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0011876	HP:0040185	Macrothrombocytopenia	2	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.	2
HP:0011876	HP:0040185	Macrothrombocytopenia	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0011876	HP:0001902	Giant platelets	2	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0011876	HP:0040185	Macrothrombocytopenia	2	TUBA8 CL E G H	51807	12410	OMIM:619840			21
HP:0011876	HP:0040185	Macrothrombocytopenia	2	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related		3

Genes (26) :ABCG8 ACTN1 ARPC1B CD36 CDC42 DIAPH1 FLI1 FLNA FYB1 GATA1 GFI1B GP1BA GP1BB GP9 ITGA2B ITGB3 LBR MYH9 PRKACG SC5D SKIC2 SKIC3 SLC35A1 TUBA8 TUBB1 WAS

Diseases (30) :OMIM:210250 OMIM:615193 OMIM:617718 OMIM:608404 ORPHA:487796 OMIM:616737 OMIM:124900 OMIM:617443 OMIM:300048 OMIM:273900 ORPHA:67044 OMIM:187900 ORPHA:274 OMIM:153670 OMIM:231200 OMIM:187800 OMIM:619271 OMIM:169400 OMIM:155100 ORPHA:182050 OMIM:616176 OMIM:607330 ORPHA:84064 OMIM:222470 OMIM:603585 ORPHA:238459 OMIM:619840 OMIM:613112 OMIM:313900 OMIM:301000

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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