Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 number of erythroid precursors (HP:0012131)

..Starting node
..Erythroid hyperplasia (HP:0012132)

Term ID:

12132

Name:

Erythroid hyperplasia

Synonym:

Bone marrow biopsy shows erythroid hyperplasia; Bone marrow smear shows erythroid hyperplasia

Definition:

Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.

Comments:

Reference:

HP:0012132

Genes and Diseases:

Child Nodes:

........

Megaloblastic erythroid hyperplasia (HP:0200143)

Sister Nodes:

Erythroid hypoplasia (HP:0012133)

Pure red cell aplasia (HP:0012410)

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:0012132	HP:0012132	Erythroid hyperplasia	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0012132	HP:0012132	Erythroid hyperplasia	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0012132	HP:0012132	Erythroid hyperplasia	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0012132	HP:0012132	Erythroid hyperplasia	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0012132	HP:0012132	Erythroid hyperplasia	0	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0012132	HP:0012132	Erythroid hyperplasia	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0012132	HP:0012132	Erythroid hyperplasia	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0012132	HP:0012132	Erythroid hyperplasia	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0012132	HP:0012132	Erythroid hyperplasia	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.	42
HP:0012132	HP:0012132	Erythroid hyperplasia	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0012132	HP:0012132	Erythroid hyperplasia	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0012132	HP:0012132	Erythroid hyperplasia	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0012132	HP:0012132	Erythroid hyperplasia	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0012132	HP:0012132	Erythroid hyperplasia	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0012132	HP:0012132	Erythroid hyperplasia	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	19
HP:0012132	HP:0012132	Erythroid hyperplasia	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	3
HP:0012132	HP:0012132	Erythroid hyperplasia	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional	31
HP:0012132	HP:0012132	Erythroid hyperplasia	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0012132	HP:0200143	Megaloblastic erythroid hyperplasia	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0012132	HP:0200143	Megaloblastic erythroid hyperplasia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	19
HP:0012132	HP:0200143	Megaloblastic erythroid hyperplasia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	3

Genes (17) :CBLIF CDAN1 CDIN1 ERBB3 GATA1 GLRX5 HBB KLF1 LPIN2 PGK1 PIGA PKLR PUS1 SF3B1 TET2 UROD UROS

Diseases (16) :OMIM:261000 OMIM:224120 OMIM:615631 OMIM:133180 OMIM:301083 ORPHA:79277 OMIM:616860 ORPHA:231222 OMIM:613673 OMIM:609628 OMIM:300653 ORPHA:447 OMIM:266200 OMIM:600462 ORPHA:75564 ORPHA:95159

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen