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:
Anemia (HP:0001903)

Parent Node:
Anemia of inadequate production (HP:0010972)

..Starting node
..Normochromic anemia (HP:0001895)

Term ID:

1895

Name:

Normochromic anemia

Synonym:

Normochromic anaemia

Definition:

Comments:

Reference:

HP:0001895

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypochromic anemia (HP:0001931)

Hypoplastic anemia (HP:0001908)

Macrocytic anemia (HP:0001972)

Microcytic anemia (HP:0001935)

Normocytic anemia (HP:0001897)

Sideroblastic anemia (HP:0001924)

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:0001895	HP:0001895	Normochromic anemia	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001895	HP:0001895	Normochromic anemia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001895	HP:0001895	Normochromic anemia	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0001895	HP:0001895	Normochromic anemia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001895	HP:0001895	Normochromic anemia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0001895	HP:0001895	Normochromic anemia	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0001895	HP:0001895	Normochromic anemia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001895	HP:0001895	Normochromic anemia	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0001895	HP:0001895	Normochromic anemia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001895	HP:0001895	Normochromic anemia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001895	HP:0001895	Normochromic anemia	0	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.	3
HP:0001895	HP:0001895	Normochromic anemia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001895	HP:0001895	Normochromic anemia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001895	HP:0001895	Normochromic anemia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001895	HP:0001895	Normochromic anemia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001895	HP:0001895	Normochromic anemia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001895	HP:0001895	Normochromic anemia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0001895	HP:0001895	Normochromic anemia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0001895	HP:0001895	Normochromic anemia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0001895	HP:0001895	Normochromic anemia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001895	HP:0001895	Normochromic anemia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0001895	HP:0001895	Normochromic anemia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0001895	HP:0001895	Normochromic anemia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001895	HP:0001895	Normochromic anemia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0001895	HP:0001895	Normochromic anemia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001895	HP:0001895	Normochromic anemia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001895	HP:0001895	Normochromic anemia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001895	HP:0001895	Normochromic anemia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0001895	HP:0001895	Normochromic anemia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0001895	HP:0001895	Normochromic anemia	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	19
HP:0001895	HP:0001895	Normochromic anemia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001895	HP:0001895	Normochromic anemia	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040282 - Frequent	3
HP:0001895	HP:0001895	Normochromic anemia	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040283 - Occasional	3
HP:0001895	HP:0001895	Normochromic anemia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001895	HP:0001895	Normochromic anemia	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28
HP:0001895	HP:0001895	Normochromic anemia	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56
HP:0001895	HP:0001895	Normochromic anemia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0001895	HP:0001895	Normochromic anemia	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10

Genes (35) :ABCD4 ADA2 ALDOA ASXL1 GATA1 HK1 KIT LCAT RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SF3B1 SRSF2 TET2 TPI1 TREX1 TSR2 UQCRFS1

Diseases (12) :OMIM:614857 ORPHA:124 OMIM:611881 ORPHA:98849 OMIM:235700 OMIM:245900 OMIM:615550 ORPHA:75564 ORPHA:98826 OMIM:615512 ORPHA:247691 OMIM:618775

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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