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 erythrocyte morphology (HP:0001877)

Parent Node:
Abnormal mean corpuscular volume (HP:0025065)

..Starting node
..Increased mean corpuscular volume (HP:0005518)

Term ID:

5518

Name:

Increased mean corpuscular volume

Synonym:

Erythrocyte macrocytosis; Increased MCV

Definition:

Larger than normal size of erythrocytes.

Comments:

Reference:

HP:0005518

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased mean corpuscular volume (HP:0025066)

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:0005518	HP:0005518	Increased mean corpuscular volume	0	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040283 - Occasional	20
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040284 - Very rare	580
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7	.	4
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0005518	HP:0005518	Increased mean corpuscular volume	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1

Genes (43) :ABCB6 ADA2 ANKRD11 CBLIF DNAJC21 DUT EFL1 GATA1 HBB KCNN4 KIF23 LIG1 MDM4 MMADHC MTRR PIEZO1 RACGAP1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMD9 SAMD9L SBDS SLC4A1 SRP54 TSR2

Diseases (20) :ORPHA:90044 ORPHA:124 ORPHA:261250 OMIM:261000 ORPHA:811 OMIM:620044 ORPHA:232 ORPHA:3202 OMIM:616689 ORPHA:98870 OMIM:619774 OMIM:618849 OMIM:277410 ORPHA:2169 OMIM:612562 OMIM:612561 OMIM:610629 OMIM:612563 OMIM:619041 OMIM:252270

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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