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
..Decreased mean corpuscular hemoglobin concentration (HP:0025547)

Term ID:

25547

Name:

Decreased mean corpuscular hemoglobin concentration

Synonym:

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

Definition:

A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.

Comments:

Reference:

HP:0025547

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased mean corpuscular hemoglobin concentration (HP:0025548)

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:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent	580
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0025547	HP:0025547	Decreased mean corpuscular hemoglobin concentration	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040281 - Very frequent	13

Genes (6) :CD46 CFH CFI HBB HELLPAR RHAG

Diseases (6) :ORPHA:244242 ORPHA:231214 OMIM:603902 ORPHA:231226 ORPHA:90039 ORPHA:3203

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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