Human Phenotype Ontology

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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
..HbS hemoglobin (HP:0045047)

Term ID:

45047

Name:

HbS hemoglobin

Synonym:

HbS haemoglobin

Definition:

Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.

Comments:

Reference:

HP:0045047

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mean corpuscular hemoglobin concentration (HP:0025546)

Elevated hemoglobin A1c (HP:0040217)

HbH hemoglobin (HP:0011903)

Hemoglobin Barts (HP:0005507)

Imbalanced hemoglobin synthesis (HP:0005560)

Increased HbA2 hemoglobin (HP:0045048)

Methemoglobinemia (HP:0012119)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045047	HP:0045047	HbS hemoglobin	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	11
HP:0045047	HP:0045047	HbS hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease	580
HP:0045047	HP:0045047	HbS hemoglobin	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	580
HP:0045047	HP:0045047	HbS hemoglobin	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	35
HP:0045047	HP:0045047	HbS hemoglobin	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	50
HP:0045047	HP:0045047	HbS hemoglobin	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	42

Genes (5) :BCL11A HBB HBG1 HBG2 KLF1

Diseases (2) :ORPHA:251380 ORPHA:90039

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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