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:
Anemia of inadequate production (HP:0010972)

Parent Node:
Macrocytic anemia (HP:0001972)

..Starting node
..Megaloblastic anemia (HP:0001889)

Term ID:

1889

Name:

Megaloblastic anemia

Synonym:

Megaloblastic anaemia

Definition:

Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).

Comments:

Reference:

HP:0001889

Genes and Diseases:

Child Nodes:

........

Pyrimidine-responsive megaloblastic anemia (HP:0003339)

........

Folate-unresponsive megaloblastic anemia (HP:0004826)

........

Folate-responsive megaloblastic anemia (HP:0004851)

........

Thiamine-responsive megaloblastic anemia (HP:0004860)

Sister Nodes:

Hyperchromic macrocytic anemia (HP:0004857)

Macrocytic dyserythropoietic anemia (HP:0005532)

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:0001889	HP:0001889	Megaloblastic anemia	0	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0001889	HP:0001889	Megaloblastic anemia	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	25
HP:0001889	HP:0001889	Megaloblastic anemia	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0001889	HP:0001889	Megaloblastic anemia	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	273
HP:0001889	HP:0001889	Megaloblastic anemia	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0001889	HP:0001889	Megaloblastic anemia	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0001889	HP:0001889	Megaloblastic anemia	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040283 - Occasional	65
HP:0001889	HP:0001889	Megaloblastic anemia	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0001889	HP:0001889	Megaloblastic anemia	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0001889	HP:0001889	Megaloblastic anemia	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0001889	HP:0001889	Megaloblastic anemia	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0001889	HP:0001889	Megaloblastic anemia	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0001889	HP:0001889	Megaloblastic anemia	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001889	HP:0001889	Megaloblastic anemia	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0001889	HP:0001889	Megaloblastic anemia	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0001889	HP:0001889	Megaloblastic anemia	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0001889	HP:0001889	Megaloblastic anemia	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0001889	HP:0001889	Megaloblastic anemia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0001889	HP:0001889	Megaloblastic anemia	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0001889	HP:0001889	Megaloblastic anemia	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001889	HP:0001889	Megaloblastic anemia	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001889	HP:0001889	Megaloblastic anemia	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0001889	HP:0001889	Megaloblastic anemia	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent	55
HP:0001889	HP:0001889	Megaloblastic anemia	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0001889	HP:0001889	Megaloblastic anemia	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent	101
HP:0001889	HP:0001889	Megaloblastic anemia	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria		135
HP:0001889	HP:0001889	Megaloblastic anemia	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0001889	HP:0004851	Folate-responsive megaloblastic anemia	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0001889	HP:0004860	Thiamine-responsive megaloblastic anemia	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0001889	HP:0004851	Folate-responsive megaloblastic anemia	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0001889	HP:0004826	Folate-unresponsive megaloblastic anemia	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135
HP:0001889	HP:0003339	Pyrimidine-responsive megaloblastic anemia	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135

Genes (19) :AMN CBLIF CUBN DHFR FTCD HPRT1 LMBRD1 MMACHC MMADHC MTHFD1 MTR MTRR PHGDH PRDX1 SLC19A1 SLC19A2 SLC46A1 UMPS WFS1

Diseases (25) :OMIM:618882 ORPHA:35858 OMIM:261000 OMIM:261100 OMIM:613839 ORPHA:51208 OMIM:229100 OMIM:300322 ORPHA:79284 OMIM:277380 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:617780 OMIM:250940 OMIM:236270 ORPHA:79351 OMIM:601815 OMIM:601775 OMIM:249270 ORPHA:49827 OMIM:229050 ORPHA:90045 OMIM:258900 OMIM:222300

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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