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
..Pure red cell aplasia (HP:0012410)

Term ID:

12410

Name:

Pure red cell aplasia

Synonym:

Red cell aplasia

Definition:

A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.

Comments:

Reference:

HP:0012410

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythroid hyperplasia (HP:0012132)

Erythroid hypoplasia (HP:0012133)

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:0012410	HP:0012410	Pure red cell aplasia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	22
HP:0012410	HP:0012410	Pure red cell aplasia	0	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL		1
HP:0012410	HP:0012410	Pure red cell aplasia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	29
HP:0012410	HP:0012410	Pure red cell aplasia	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	22
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	3
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	3
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	1
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	11
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	40
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	26
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	5
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	42
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	1
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	22
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	20
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	1
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	1
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	3
HP:0012410	HP:0012410	Pure red cell aplasia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	20
HP:0012410	HP:0012410	Pure red cell aplasia	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.	911
HP:0012410	HP:0012410	Pure red cell aplasia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040281 - Very frequent	1

Genes (26) :ADA2 EPO GATA1 PNP RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TP53 TSR2

Diseases (4) :ORPHA:124 OMIM:617911 OMIM:613179 OMIM:618165

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