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 hemoglobin (HP:0011902)

Parent Node:
Abnormal mean corpuscular hemoglobin concentration (HP:0025546)

..Starting node
..Increased mean corpuscular hemoglobin concentration (HP:0025548)

Term ID:

25548

Name:

Increased mean corpuscular hemoglobin concentration

Synonym:

Increased MCH; Increased MCHC; Increased mean corpuscular haemoglobin; Increased mean corpuscular haemoglobin concentration; Increased mean corpuscular Hb concentration

Definition:

An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).

Comments:

Reference:

HP:0025548

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased mean corpuscular hemoglobin concentration (HP:0025547)

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:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	.	36
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0025548	HP:0025548	Increased mean corpuscular hemoglobin concentration	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional

Genes (15) :ANK1 CARS1 EPB42 ERCC2 ERCC3 GTF2E2 GTF2H5 KCNN4 MPLKIP PIEZO1 RNF113A SLC4A1 SPTA1 SPTB TARS1

Diseases (5) :ORPHA:822 ORPHA:33364 ORPHA:3202 OMIM:616689 OMIM:194380

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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