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:
Imbalanced hemoglobin synthesis (HP:0005560)

..Starting node
..Reduced alpha/beta synthesis ratio (HP:0011907)

Term ID:

11907

Name:

Reduced alpha/beta synthesis ratio

Synonym:

Definition:

A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.

Comments:

Reference:

HP:0011907

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced beta/alpha synthesis ratio (HP:0011906)

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:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.	200
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.	200
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.	88
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.	88
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.	580
HP:0011907	HP:0011907	Reduced alpha/beta synthesis ratio	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580

Genes (4) :ATRX HBA1 HBA2 HBB

Diseases (5) :OMIM:300448 OMIM:301040 OMIM:604131 OMIM:613978 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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