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 of inadequate production (HP:0010972)

Parent Node:
Macrocytic anemia (HP:0001972)

..Starting node
..Macrocytic dyserythropoietic anemia (HP:0005532)

Term ID:

5532

Name:

Macrocytic dyserythropoietic anemia

Synonym:

Macrocytic dyserythropoietic anaemia

Definition:

Comments:

Reference:

HP:0005532

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperchromic macrocytic anemia (HP:0004857)

Megaloblastic anemia (HP:0001889)

Refractory macrocytic anemia (HP:0004861)

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:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0005532	HP:0005532	Macrocytic dyserythropoietic anemia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1

Genes (25) :ADA2 CDAN1 GATA1 RACGAP1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2

Diseases (3) :ORPHA:124 OMIM:224120 OMIM:619789

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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