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 hemoglobin (HP:0011902)

..Starting node
..Reduced hemoglobin A (HP:0011905)

Term ID:

11905

Name:

Reduced hemoglobin A

Synonym:

Reduced haemoglobin A; Reduced HbA

Definition:

Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.

Comments:

Reference:

HP:0011905

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mean corpuscular hemoglobin concentration (HP:0025546)

Elevated hemoglobin A1c (HP:0040217)

HbH hemoglobin (HP:0011903)

HbS hemoglobin (HP:0045047)

Hemoglobin Barts (HP:0005507)

Imbalanced hemoglobin synthesis (HP:0005560)

Increased HbA2 hemoglobin (HP:0045048)

Methemoglobinemia (HP:0012119)

Persistence of hemoglobin F (HP:0011904)

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:0011905	HP:0011905	Reduced hemoglobin A	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0011905	HP:0011905	Reduced hemoglobin A	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040281 - Very frequent	580
HP:0011905	HP:0011905	Reduced hemoglobin A	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0011905	HP:0011905	Reduced hemoglobin A	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040282 - Frequent	580

Genes (1) :HBB

Diseases (4) :ORPHA:231214 ORPHA:231226 ORPHA:90039 ORPHA:2133

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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