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
..Methemoglobinemia (HP:0012119)

Term ID:

12119

Name:

Methemoglobinemia

Synonym:

Definition:

Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.

Comments:

Reference:

HP:0012119

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)

Persistence of hemoglobin F (HP:0011904)

Reduced hemoglobin A (HP:0011905)

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:0012119	HP:0012119	Methemoglobinemia	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040281 - Very frequent	2
HP:0012119	HP:0012119	Methemoglobinemia	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0012119	HP:0012119	Methemoglobinemia	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040281 - Very frequent	24
HP:0012119	HP:0012119	Methemoglobinemia	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.	24
HP:0012119	HP:0012119	Methemoglobinemia	0	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE		200
HP:0012119	HP:0012119	Methemoglobinemia	0	HBB CL E G H	3043	4827	OMIM:617971	Methemoglobinemia, Beta type	.	580
HP:0012119	HP:0012119	Methemoglobinemia	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	.	50

Genes (5) :CYB5A CYB5R3 HBA1 HBB HBG2

Diseases (6) :ORPHA:621 OMIM:250790 OMIM:250800 OMIM:617973 OMIM:617971 OMIM:613977

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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