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 number of erythroid precursors (HP:0012131)

..Starting node
..Erythroid hypoplasia (HP:0012133)

Term ID:

12133

Name:

Erythroid hypoplasia

Synonym:

Erythroblastopenia; Erythroid hypoplasia in the bone marrow

Definition:

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

Comments:

Reference:

HP:0012133

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythroid hyperplasia (HP:0012132)

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:0012133	HP:0012133	Erythroid hypoplasia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0012133	HP:0012133	Erythroid hypoplasia	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0012133	HP:0012133	Erythroid hypoplasia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0012133	HP:0012133	Erythroid hypoplasia	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL35 CL E G H	11224	10344	OMIM:618312	DIAMOND-BLACKFAN ANEMIA 19; DBA19
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0012133	HP:0012133	Erythroid hypoplasia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0012133	HP:0012133	Erythroid hypoplasia	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040282 - Frequent	3
HP:0012133	HP:0012133	Erythroid hypoplasia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1

Genes (27) :ADA2 G6PC3 GATA1 HEATR3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TET2 TSR2

Diseases (11) :ORPHA:124 OMIM:612541 OMIM:620072 OMIM:618310 OMIM:618312 OMIM:612528 OMIM:153550 ORPHA:86841 OMIM:618313 OMIM:612527 ORPHA:98826

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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