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:
Polycythemia (HP:0001901)

..Starting node
..Increased hemoglobin (HP:0001900)

Term ID:

1900

Name:

Increased hemoglobin

Synonym:

Increased haemoglobin; Increased Hb

Definition:

Comments:

Reference:

HP:0001900

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased red blood cell mass (HP:0001898)

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:0001900	HP:0001900	Increased hemoglobin	0	BPGM CL E G H	669	1093	OMIM:222800	Erythrocytosis, familial, 8		2
HP:0001900	HP:0001900	Increased hemoglobin	0	EGLN1 CL E G H	54583	1232	OMIM:609820	Erythrocytosis, familial, 3	.	128
HP:0001900	HP:0001900	Increased hemoglobin	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0001900	HP:0001900	Increased hemoglobin	0	EPO CL E G H	2056	3415	OMIM:617907	Erythrocytosis, familial, 5	.	1
HP:0001900	HP:0001900	Increased hemoglobin	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0001900	HP:0001900	Increased hemoglobin	0	HBB CL E G H	3043	4827	OMIM:617980	ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6		580
HP:0001900	HP:0001900	Increased hemoglobin	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001900	HP:0001900	Increased hemoglobin	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001900	HP:0001900	Increased hemoglobin	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001900	HP:0001900	Increased hemoglobin	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490

Genes (9) :BPGM EGLN1 EPAS1 EPO GATA1 HBB JAK2 SH2B3 VHL

Diseases (9) :OMIM:222800 OMIM:609820 OMIM:611783 OMIM:617907 OMIM:300835 OMIM:617980 OMIM:133100 OMIM:263300 OMIM:263400

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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