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:
Sideroblastic anemia (HP:0001924)

..Starting node
..Pyridoxine-responsive sideroblastic anemia (HP:0005522)

Term ID:

5522

Name:

Pyridoxine-responsive sideroblastic anemia

Synonym:

Pyridoxine-responsive sideroblastic anaemia

Definition:

A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.

Comments:

Reference:

HP:0005522

Genes and Diseases:

Child Nodes:

Sister Nodes:

Refractory sideroblastic anemia (HP:0004864)

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:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0005522	HP:0005522	Pyridoxine-responsive sideroblastic anemia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125

Genes (23) :BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM MAD2L2 PALB2 PNPO RAD51 RAD51C RFWD3 SLX4 UBE2T XRCC2

Diseases (2) :ORPHA:84 ORPHA:79096

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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