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:
Abnormal reticulocyte morphology (HP:0004312)

..Starting node
..Reticulocytopenia (HP:0001896)

Term ID:

1896

Name:

Reticulocytopenia

Synonym:

Definition:

A reduced number of reticulocytes in the peripheral blood.

Comments:

Reference:

HP:0001896

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reticulocytosis (HP:0001923)

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:0001896	HP:0001896	Reticulocytopenia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001896	HP:0001896	Reticulocytopenia	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001896	HP:0001896	Reticulocytopenia	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0001896	HP:0001896	Reticulocytopenia	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0001896	HP:0001896	Reticulocytopenia	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001896	HP:0001896	Reticulocytopenia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0001896	HP:0001896	Reticulocytopenia	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	23
HP:0001896	HP:0001896	Reticulocytopenia	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0001896	HP:0001896	Reticulocytopenia	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	58
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.	3
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5	.	11
HP:0001896	HP:0001896	Reticulocytopenia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4		5
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.	20
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001896	HP:0001896	Reticulocytopenia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0001896	HP:0001896	Reticulocytopenia	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	26
HP:0001896	HP:0001896	Reticulocytopenia	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent	1
HP:0001896	HP:0001896	Reticulocytopenia	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0001896	HP:0001896	Reticulocytopenia	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	48
HP:0001896	HP:0001896	Reticulocytopenia	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	238
HP:0001896	HP:0001896	Reticulocytopenia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1

Genes (35) :ADA2 FANCA FANCC FANCD2 FANCE GATA1 IFNG MYSM1 PRF1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS STEAP3 TCN2 TERC TERT TSR2

Diseases (15) :ORPHA:124 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 ORPHA:88 ORPHA:508542 OMIM:615550 OMIM:612528 OMIM:612527 OMIM:105650 OMIM:610629 OMIM:613309 ORPHA:300298 OMIM:275350

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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