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:
Abnormality of bone marrow cell morphology (HP:0005561)

Parent Node:
Abnormality of multiple cell lineages in the bone marrow (HP:0012145)

..Starting node
..Pancytopenia (HP:0001876)

Term ID:

1876

Name:

Pancytopenia

Synonym:

Low blood cell count; Pancytopaenia

Definition:

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

Comments:

Reference:

HP:0001876

Genes and Diseases:

Child Nodes:

........

Aplastic anemia (HP:0001915)

Sister Nodes:

Bone marrow hypercellularity (HP:0031020)

Bone marrow hypocellularity (HP:0005528)

Megaloblastic bone marrow (HP:0001980)

Myelofibrosis (HP:0011974)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001876	HP:0001876	Pancytopenia	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	1007	882	601215
HP:0001876	HP:0001876	Pancytopenia	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	755	882	601215
HP:0001876	HP:0001876	Pancytopenia	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	297	18621	606977
HP:0001876	HP:0001876	Pancytopenia	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	281	18621	606977
HP:0001876	HP:0001876	Pancytopenia	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	171	25223	609825
HP:0001876	HP:0001876	Pancytopenia	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	137	25223	609825
HP:0001876	HP:0001876	Pancytopenia	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	343	2861	126060
HP:0001876	HP:0001876	Pancytopenia	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	277	2861	126060
HP:0001876	HP:0001876	Pancytopenia	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	426	2890	300126
HP:0001876	HP:0001876	Pancytopenia	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	396	2890	300126
HP:0001876	HP:0001876	Pancytopenia	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	187	27030	617048
HP:0001876	HP:0001876	Pancytopenia	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	91	27030	617048
HP:0001876	HP:0001876	Pancytopenia	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	187	27030	617048
HP:0001876	HP:0001876	Pancytopenia	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	91	27030	617048
HP:0001876	HP:0001876	Pancytopenia	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	3146	3582	607139
HP:0001876	HP:0001876	Pancytopenia	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	2658	3582	607139
HP:0001876	HP:0001876	Pancytopenia	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1175	3584	613899
HP:0001876	HP:0001876	Pancytopenia	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1079	3584	613899
HP:0001876	HP:0001876	Pancytopenia	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	864	3585	613984
HP:0001876	HP:0001876	Pancytopenia	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	729	3585	613984
HP:0001876	HP:0001876	Pancytopenia	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	360	3586	613976
HP:0001876	HP:0001876	Pancytopenia	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	281	3586	613976
HP:0001876	HP:0001876	Pancytopenia	0	GATA2 CL E G H	2624	614038	Lymphedema, primary, with myelodysplasia	614038	C3279664	OMIM	1	988	4171	137295
HP:0001876	HP:0001876	Pancytopenia	0	GATA2 CL E G H	2624	614038	Lymphedema, primary, with myelodysplasia	614038	C3279664	OMIM	1	849	4171	137295
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	77259				ORPHA	1	269	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	85212				ORPHA	1	269	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	77261				ORPHA	1	269	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	77259				ORPHA	1	261	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	85212				ORPHA	1	261	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	77261				ORPHA	1	261	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1	269	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1	261	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	230800	Gaucher's disease, type 1	230800	C1961835	OMIM	1	269	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	230800	Gaucher's disease, type 1	230800	C1961835	OMIM	1	261	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	269	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	261	4177	606463
HP:0001876	HP:0001876	Pancytopenia	0	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	313	6171	186973
HP:0001876	HP:0001876	Pancytopenia	0	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	262	6171	186973
HP:0001876	HP:0001876	Pancytopenia	0	IVD CL E G H	3712	243500	Isovaleryl-CoA dehydrogenase deficiency	243500	C0268575	OMIM	1	415	6186	607036
HP:0001876	HP:0001876	Pancytopenia	0	IVD CL E G H	3712	243500	Isovaleryl-CoA dehydrogenase deficiency	243500	C0268575	OMIM	1	380	6186	607036
HP:0001876	HP:0001876	Pancytopenia	0	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	341	6407	190070
HP:0001876	HP:0001876	Pancytopenia	0	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	331	6407	190070
HP:0001876	HP:0001876	Pancytopenia	0	LIG4 CL E G H	3981	99812				ORPHA	1	467	6601	601837
HP:0001876	HP:0001876	Pancytopenia	0	LIG4 CL E G H	3981	99812				ORPHA	1	388	6601	601837
HP:0001876	HP:0001876	Pancytopenia	0	LIG4 CL E G H	3981	606593	Lig4 syndrome	606593	C1847827	OMIM	1	467	6601	601837
HP:0001876	HP:0001876	Pancytopenia	0	LIG4 CL E G H	3981	606593	Lig4 syndrome	606593	C1847827	OMIM	1	388	6601	601837
HP:0001876	HP:0001876	Pancytopenia	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	193	23038	612625
HP:0001876	HP:0001876	Pancytopenia	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	157	23038	612625
HP:0001876	HP:0001876	Pancytopenia	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	359	18871	607481
HP:0001876	HP:0001876	Pancytopenia	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	335	18871	607481
HP:0001876	HP:0001876	Pancytopenia	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	375	19331	607568
HP:0001876	HP:0001876	Pancytopenia	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	357	19331	607568
HP:0001876	HP:0001876	Pancytopenia	0	MPL CL E G H	4352	604498	Congenital amegakaryocytic thrombocytopenia	604498	C1327915	OMIM	1	367	7217	159530
HP:0001876	HP:0001876	Pancytopenia	0	MPL CL E G H	4352	604498	Congenital amegakaryocytic thrombocytopenia	604498	C1327915	OMIM	1	314	7217	159530
HP:0001876	HP:0001876	Pancytopenia	0	MTHFD1 CL E G H	4522	617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	617780	C4540434	OMIM	1	166	7432	172460
HP:0001876	HP:0001876	Pancytopenia	0	MTHFD1 CL E G H	4522	617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	617780	C4540434	OMIM	1	64	7432	172460
HP:0001876	HP:0001876	Pancytopenia	0	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	136	14377	606470
HP:0001876	HP:0001876	Pancytopenia	0	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	113	14377	606470
HP:0001876	HP:0001876	Pancytopenia	0	NLRC4 CL E G H	58484	616050	Autoinflammation with infantile enterocolitis	616050	C4015067	OMIM	1	409	16412	606831
HP:0001876	HP:0001876	Pancytopenia	0	NLRC4 CL E G H	58484	616050	Autoinflammation with infantile enterocolitis	616050	C4015067	OMIM	1	321	16412	606831
HP:0001876	HP:0001876	Pancytopenia	0	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	226	7989	164790
HP:0001876	HP:0001876	Pancytopenia	0	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	212	7989	164790
HP:0001876	HP:0001876	Pancytopenia	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	191	21652	607649
HP:0001876	HP:0001876	Pancytopenia	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	146	21652	607649
HP:0001876	HP:0001876	Pancytopenia	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	749	8653	232000
HP:0001876	HP:0001876	Pancytopenia	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	606	8653	232000
HP:0001876	HP:0001876	Pancytopenia	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	618	8654	232050
HP:0001876	HP:0001876	Pancytopenia	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	480	8654	232050
HP:0001876	HP:0001876	Pancytopenia	0	RAB27A CL E G H	5873	79477				ORPHA	1	228	9766	603868
HP:0001876	HP:0001876	Pancytopenia	0	RAB27A CL E G H	5873	79477				ORPHA	1	204	9766	603868
HP:0001876	HP:0001876	Pancytopenia	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	259	18518	606034
HP:0001876	HP:0001876	Pancytopenia	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	186	18518	606034
HP:0001876	HP:0001876	Pancytopenia	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	290	1349	611170
HP:0001876	HP:0001876	Pancytopenia	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	138	1349	611170
HP:0001876	HP:0001876	Pancytopenia	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	89	19440	607444
HP:0001876	HP:0001876	Pancytopenia	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	82	19440	607444
HP:0001876	HP:0001876	Pancytopenia	0	SCARB2 CL E G H	950	77259				ORPHA	1	376	1665	602257
HP:0001876	HP:0001876	Pancytopenia	0	SCARB2 CL E G H	950	77259				ORPHA	1	328	1665	602257
HP:0001876	HP:0001876	Pancytopenia	0	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	278	10820	300490
HP:0001876	HP:0001876	Pancytopenia	0	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	261	10820	300490
HP:0001876	HP:0001876	Pancytopenia	0	SLX4 CL E G H	84464	613951	Fanconi anemia, complementation group P	613951	C3469542	OMIM	1	1413	23845	613278
HP:0001876	HP:0001876	Pancytopenia	0	SLX4 CL E G H	84464	613951	Fanconi anemia, complementation group P	613951	C3469542	OMIM	1	1097	23845	613278
HP:0001876	HP:0001876	Pancytopenia	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	97	11301	604857
HP:0001876	HP:0001876	Pancytopenia	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	71	11301	604857
HP:0001876	HP:0001876	Pancytopenia	0	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	105	26200	613128
HP:0001876	HP:0001876	Pancytopenia	0	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	42	26200	613128
HP:0001876	HP:0001876	Pancytopenia	0	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	116	11559	602063
HP:0001876	HP:0001876	Pancytopenia	0	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	96	11559	602063
HP:0001876	HP:0001876	Pancytopenia	0	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	674	11647	604592
HP:0001876	HP:0001876	Pancytopenia	0	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	544	11647	604592
HP:0001876	HP:0001876	Pancytopenia	0	TCN2 CL E G H	6948	859				ORPHA	1	351	11653	613441
HP:0001876	HP:0001876	Pancytopenia	0	TCN2 CL E G H	6948	859				ORPHA	1	293	11653	613441
HP:0001876	HP:0001876	Pancytopenia	0	TCN2 CL E G H	6948	275350	Transcobalamin II deficiency	275350	C0342701	OMIM	1	351	11653	613441
HP:0001876	HP:0001876	Pancytopenia	0	TCN2 CL E G H	6948	275350	Transcobalamin II deficiency	275350	C0342701	OMIM	1	293	11653	613441
HP:0001876	HP:0001876	Pancytopenia	0	TNFRSF4 CL E G H	7293	615593	Immunodeficiency 16	615593	C3810053	OMIM	1	314	11918	600315
HP:0001876	HP:0001876	Pancytopenia	0	TNFRSF4 CL E G H	7293	615593	Immunodeficiency 16	615593	C3810053	OMIM	1	259	11918	600315
HP:0001876	HP:0001876	Pancytopenia	0	TNFSF11 CL E G H	8600	259710	Osteopetrosis autosomal recessive 2	259710	C1850126	OMIM	1	166	11926	602642
HP:0001876	HP:0001876	Pancytopenia	0	TNFSF11 CL E G H	8600	259710	Osteopetrosis autosomal recessive 2	259710	C1850126	OMIM	1	129	11926	602642
HP:0001876	HP:0001876	Pancytopenia	0	UBE2T CL E G H	29089	616435	Fanconi anemia, complementation group T	616435	C4084840	OMIM	1	28	25009	610538
HP:0001876	HP:0001876	Pancytopenia	0	UBE2T CL E G H	29089	616435	Fanconi anemia, complementation group T	616435	C4084840	OMIM	1	25	25009	610538
HP:0001876	HP:0001876	Pancytopenia	0	WRAP53 CL E G H	55135	613988	Dyskeratosis congenita, autosomal recessive, 3	613988	C3151442	OMIM	1	297	25522	612661
HP:0001876	HP:0001876	Pancytopenia	0	WRAP53 CL E G H	55135	613988	Dyskeratosis congenita, autosomal recessive, 3	613988	C3151442	OMIM	1	185	25522	612661
HP:0001876	HP:0001876	Pancytopenia	0	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	431	592	300079
HP:0001876	HP:0001876	Pancytopenia	0	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	404	592	300079
HP:0001876	HP:0001876	Pancytopenia	0	XRCC4 CL E G H	7518	99812				ORPHA	1	68	12831	194363
HP:0001876	HP:0001876	Pancytopenia	0	XRCC4 CL E G H	7518	99812				ORPHA	1	54	12831	194363
HP:0001876	HP:0001915	Aplastic anemia	1	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	755	882	601215
HP:0001876	HP:0001915	Aplastic anemia	1	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	1007	882	601215
HP:0001876	HP:0001915	Aplastic anemia	1	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	281	18621	606977
HP:0001876	HP:0001915	Aplastic anemia	1	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	297	18621	606977
HP:0001876	HP:0001915	Aplastic anemia	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	137	25223	609825
HP:0001876	HP:0001915	Aplastic anemia	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	171	25223	609825
HP:0001876	HP:0001915	Aplastic anemia	1	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	277	2861	126060
HP:0001876	HP:0001915	Aplastic anemia	1	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	343	2861	126060
HP:0001876	HP:0001915	Aplastic anemia	1	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	396	2890	300126
HP:0001876	HP:0001915	Aplastic anemia	1	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	426	2890	300126
HP:0001876	HP:0001915	Aplastic anemia	1	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	91	27030	617048
HP:0001876	HP:0001915	Aplastic anemia	1	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	187	27030	617048
HP:0001876	HP:0001915	Aplastic anemia	1	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	91	27030	617048
HP:0001876	HP:0001915	Aplastic anemia	1	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	187	27030	617048
HP:0001876	HP:0001915	Aplastic anemia	1	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	2658	3582	607139
HP:0001876	HP:0001915	Aplastic anemia	1	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	3146	3582	607139
HP:0001876	HP:0001915	Aplastic anemia	1	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1079	3584	613899
HP:0001876	HP:0001915	Aplastic anemia	1	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1175	3584	613899
HP:0001876	HP:0001915	Aplastic anemia	1	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	729	3585	613984
HP:0001876	HP:0001915	Aplastic anemia	1	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	864	3585	613984
HP:0001876	HP:0001915	Aplastic anemia	1	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	281	3586	613976
HP:0001876	HP:0001915	Aplastic anemia	1	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	360	3586	613976
HP:0001876	HP:0001915	Aplastic anemia	1	GATA2 CL E G H	2624	614038	Lymphedema, primary, with myelodysplasia	614038	C3279664	OMIM	1	849	4171	137295
HP:0001876	HP:0001915	Aplastic anemia	1	GATA2 CL E G H	2624	614038	Lymphedema, primary, with myelodysplasia	614038	C3279664	OMIM	1	988	4171	137295
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	77259				ORPHA	1	261	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	85212				ORPHA	1	261	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	77261				ORPHA	1	261	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	77259				ORPHA	1	269	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	85212				ORPHA	1	269	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	77261				ORPHA	1	269	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1	261	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1	269	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	230800	Gaucher's disease, type 1	230800	C1961835	OMIM	1	261	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	230800	Gaucher's disease, type 1	230800	C1961835	OMIM	1	269	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	261	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	269	4177	606463
HP:0001876	HP:0001915	Aplastic anemia	1	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	262	6171	186973
HP:0001876	HP:0001915	Aplastic anemia	1	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	313	6171	186973
HP:0001876	HP:0001915	Aplastic anemia	1	IVD CL E G H	3712	243500	Isovaleryl-CoA dehydrogenase deficiency	243500	C0268575	OMIM	1	380	6186	607036
HP:0001876	HP:0001915	Aplastic anemia	1	IVD CL E G H	3712	243500	Isovaleryl-CoA dehydrogenase deficiency	243500	C0268575	OMIM	1	415	6186	607036
HP:0001876	HP:0001915	Aplastic anemia	1	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	331	6407	190070
HP:0001876	HP:0001915	Aplastic anemia	1	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	341	6407	190070
HP:0001876	HP:0001915	Aplastic anemia	1	LIG4 CL E G H	3981	99812				ORPHA	1	388	6601	601837
HP:0001876	HP:0001915	Aplastic anemia	1	LIG4 CL E G H	3981	99812				ORPHA	1	467	6601	601837
HP:0001876	HP:0001915	Aplastic anemia	1	LIG4 CL E G H	3981	606593	Lig4 syndrome	606593	C1847827	OMIM	1	388	6601	601837
HP:0001876	HP:0001915	Aplastic anemia	1	LIG4 CL E G H	3981	606593	Lig4 syndrome	606593	C1847827	OMIM	1	467	6601	601837
HP:0001876	HP:0001915	Aplastic anemia	1	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	157	23038	612625
HP:0001876	HP:0001915	Aplastic anemia	1	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	193	23038	612625
HP:0001876	HP:0001915	Aplastic anemia	1	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	335	18871	607481
HP:0001876	HP:0001915	Aplastic anemia	1	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	359	18871	607481
HP:0001876	HP:0001915	Aplastic anemia	1	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	357	19331	607568
HP:0001876	HP:0001915	Aplastic anemia	1	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	375	19331	607568
HP:0001876	HP:0001915	Aplastic anemia	1	MPL CL E G H	4352	604498	Congenital amegakaryocytic thrombocytopenia	604498	C1327915	OMIM	1	314	7217	159530
HP:0001876	HP:0001915	Aplastic anemia	1	MPL CL E G H	4352	604498	Congenital amegakaryocytic thrombocytopenia	604498	C1327915	OMIM	1	367	7217	159530
HP:0001876	HP:0001915	Aplastic anemia	1	MTHFD1 CL E G H	4522	617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	617780	C4540434	OMIM	1	64	7432	172460
HP:0001876	HP:0001915	Aplastic anemia	1	MTHFD1 CL E G H	4522	617780	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	617780	C4540434	OMIM	1	166	7432	172460
HP:0001876	HP:0001915	Aplastic anemia	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	113	14377	606470
HP:0001876	HP:0001915	Aplastic anemia	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	136	14377	606470
HP:0001876	HP:0001915	Aplastic anemia	1	NLRC4 CL E G H	58484	616050	Autoinflammation with infantile enterocolitis	616050	C4015067	OMIM	1	321	16412	606831
HP:0001876	HP:0001915	Aplastic anemia	1	NLRC4 CL E G H	58484	616050	Autoinflammation with infantile enterocolitis	616050	C4015067	OMIM	1	409	16412	606831
HP:0001876	HP:0001915	Aplastic anemia	1	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	212	7989	164790
HP:0001876	HP:0001915	Aplastic anemia	1	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	226	7989	164790
HP:0001876	HP:0001915	Aplastic anemia	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	146	21652	607649
HP:0001876	HP:0001915	Aplastic anemia	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	191	21652	607649
HP:0001876	HP:0001915	Aplastic anemia	1	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	606	8653	232000
HP:0001876	HP:0001915	Aplastic anemia	1	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	749	8653	232000
HP:0001876	HP:0001915	Aplastic anemia	1	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	480	8654	232050
HP:0001876	HP:0001915	Aplastic anemia	1	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	618	8654	232050
HP:0001876	HP:0001915	Aplastic anemia	1	RAB27A CL E G H	5873	79477				ORPHA	1	204	9766	603868
HP:0001876	HP:0001915	Aplastic anemia	1	RAB27A CL E G H	5873	79477				ORPHA	1	228	9766	603868
HP:0001876	HP:0001915	Aplastic anemia	1	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	186	18518	606034
HP:0001876	HP:0001915	Aplastic anemia	1	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	259	18518	606034
HP:0001876	HP:0001915	Aplastic anemia	1	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	138	1349	611170
HP:0001876	HP:0001915	Aplastic anemia	1	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	290	1349	611170
HP:0001876	HP:0001915	Aplastic anemia	1	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	82	19440	607444
HP:0001876	HP:0001915	Aplastic anemia	1	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	89	19440	607444
HP:0001876	HP:0001915	Aplastic anemia	1	SCARB2 CL E G H	950	77259				ORPHA	1	328	1665	602257
HP:0001876	HP:0001915	Aplastic anemia	1	SCARB2 CL E G H	950	77259				ORPHA	1	376	1665	602257
HP:0001876	HP:0001915	Aplastic anemia	1	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	261	10820	300490
HP:0001876	HP:0001915	Aplastic anemia	1	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	278	10820	300490
HP:0001876	HP:0001915	Aplastic anemia	1	SLX4 CL E G H	84464	613951	Fanconi anemia, complementation group P	613951	C3469542	OMIM	1	1097	23845	613278
HP:0001876	HP:0001915	Aplastic anemia	1	SLX4 CL E G H	84464	613951	Fanconi anemia, complementation group P	613951	C3469542	OMIM	1	1413	23845	613278
HP:0001876	HP:0001915	Aplastic anemia	1	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	71	11301	604857
HP:0001876	HP:0001915	Aplastic anemia	1	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	97	11301	604857
HP:0001876	HP:0001915	Aplastic anemia	1	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	42	26200	613128
HP:0001876	HP:0001915	Aplastic anemia	1	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	105	26200	613128
HP:0001876	HP:0001915	Aplastic anemia	1	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	96	11559	602063
HP:0001876	HP:0001915	Aplastic anemia	1	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	116	11559	602063
HP:0001876	HP:0001915	Aplastic anemia	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	544	11647	604592
HP:0001876	HP:0001915	Aplastic anemia	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	674	11647	604592
HP:0001876	HP:0001915	Aplastic anemia	1	TCN2 CL E G H	6948	859				ORPHA	1	293	11653	613441
HP:0001876	HP:0001915	Aplastic anemia	1	TCN2 CL E G H	6948	859				ORPHA	1	351	11653	613441
HP:0001876	HP:0001915	Aplastic anemia	1	TCN2 CL E G H	6948	275350	Transcobalamin II deficiency	275350	C0342701	OMIM	1	293	11653	613441
HP:0001876	HP:0001915	Aplastic anemia	1	TCN2 CL E G H	6948	275350	Transcobalamin II deficiency	275350	C0342701	OMIM	1	351	11653	613441
HP:0001876	HP:0001915	Aplastic anemia	1	TNFRSF4 CL E G H	7293	615593	Immunodeficiency 16	615593	C3810053	OMIM	1	259	11918	600315
HP:0001876	HP:0001915	Aplastic anemia	1	TNFRSF4 CL E G H	7293	615593	Immunodeficiency 16	615593	C3810053	OMIM	1	314	11918	600315
HP:0001876	HP:0001915	Aplastic anemia	1	TNFSF11 CL E G H	8600	259710	Osteopetrosis autosomal recessive 2	259710	C1850126	OMIM	1	129	11926	602642
HP:0001876	HP:0001915	Aplastic anemia	1	TNFSF11 CL E G H	8600	259710	Osteopetrosis autosomal recessive 2	259710	C1850126	OMIM	1	166	11926	602642
HP:0001876	HP:0001915	Aplastic anemia	1	UBE2T CL E G H	29089	616435	Fanconi anemia, complementation group T	616435	C4084840	OMIM	1	25	25009	610538
HP:0001876	HP:0001915	Aplastic anemia	1	UBE2T CL E G H	29089	616435	Fanconi anemia, complementation group T	616435	C4084840	OMIM	1	28	25009	610538
HP:0001876	HP:0001915	Aplastic anemia	1	WRAP53 CL E G H	55135	613988	Dyskeratosis congenita, autosomal recessive, 3	613988	C3151442	OMIM	1	185	25522	612661
HP:0001876	HP:0001915	Aplastic anemia	1	WRAP53 CL E G H	55135	613988	Dyskeratosis congenita, autosomal recessive, 3	613988	C3151442	OMIM	1	297	25522	612661
HP:0001876	HP:0001915	Aplastic anemia	1	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	404	592	300079
HP:0001876	HP:0001915	Aplastic anemia	1	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	431	592	300079
HP:0001876	HP:0001915	Aplastic anemia	1	XRCC4 CL E G H	7518	99812				ORPHA	1	54	12831	194363
HP:0001876	HP:0001915	Aplastic anemia	1	XRCC4 CL E G H	7518	99812				ORPHA	1	68	12831	194363
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001876	HP:0001876	Pancytopenia	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	390	1839	607575
HP:0001876	HP:0001876	Pancytopenia	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	310	1839	607575
HP:0001876	HP:0001876	Pancytopenia	0	IKZF1 CL E G H	10320	616873	Immunodeficiency, common variable, 13	616873	C4225173	OMIM	0	85	13176	603023
HP:0001876	HP:0001876	Pancytopenia	0	IKZF1 CL E G H	10320	616873	Immunodeficiency, common variable, 13	616873	C4225173	OMIM	0	69	13176	603023
HP:0001876	HP:0001876	Pancytopenia	0	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	0	1253	1742	606453
HP:0001876	HP:0001876	Pancytopenia	0	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	0	986	1742	606453
HP:0001876	HP:0001876	Pancytopenia	0	SAMD9L CL E G H	219285	2585				ORPHA	0	290	1349	611170
HP:0001876	HP:0001876	Pancytopenia	0	SAMD9L CL E G H	219285	2585				ORPHA	0	138	1349	611170
HP:0001876	HP:0001876	Pancytopenia	0	SLC46A1 CL E G H	113235	90045				ORPHA	0	237	30521	611672
HP:0001876	HP:0001876	Pancytopenia	0	SLC46A1 CL E G H	113235	90045				ORPHA	0	173	30521	611672
HP:0001876	HP:0001876	Pancytopenia	0	SP110 CL E G H	3431	79124				ORPHA	0	306	5401	604457
HP:0001876	HP:0001876	Pancytopenia	0	SP110 CL E G H	3431	79124				ORPHA	0	247	5401	604457
HP:0001876	HP:0001915	Aplastic anemia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	310	1839	607575
HP:0001876	HP:0001915	Aplastic anemia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	390	1839	607575
HP:0001876	HP:0001915	Aplastic anemia	1	IKZF1 CL E G H	10320	616873	Immunodeficiency, common variable, 13	616873	C4225173	OMIM	0	69	13176	603023
HP:0001876	HP:0001915	Aplastic anemia	1	IKZF1 CL E G H	10320	616873	Immunodeficiency, common variable, 13	616873	C4225173	OMIM	0	85	13176	603023
HP:0001876	HP:0001915	Aplastic anemia	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	0	986	1742	606453
HP:0001876	HP:0001915	Aplastic anemia	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	0	1253	1742	606453
HP:0001876	HP:0001915	Aplastic anemia	1	SAMD9L CL E G H	219285	2585				ORPHA	0	138	1349	611170
HP:0001876	HP:0001915	Aplastic anemia	1	SAMD9L CL E G H	219285	2585				ORPHA	0	290	1349	611170
HP:0001876	HP:0001915	Aplastic anemia	1	SLC46A1 CL E G H	113235	90045				ORPHA	0	173	30521	611672
HP:0001876	HP:0001915	Aplastic anemia	1	SLC46A1 CL E G H	113235	90045				ORPHA	0	237	30521	611672
HP:0001876	HP:0001915	Aplastic anemia	1	SP110 CL E G H	3431	79124				ORPHA	0	247	5401	604457
HP:0001876	HP:0001915	Aplastic anemia	1	SP110 CL E G H	3431	79124				ORPHA	0	306	5401	604457

Genes (63) :ACD ADA2 ATR CD27 COG6 COQ2 DHFR DKC1 DNAJC21 EFL1 FANCA FANCC FANCD2 FANCE GATA2 GBA HOXA11 IKZF1 ITK IVD KRAS LIG4 LMBRD1 LRBA MMAA MMAB MPL MTHFD1 NBN NHP2 NLRC4 NOP10 NRAS OSTM1 PALB2 PCCA PCCB PIGA PRF1 RAB27A RNASEH2A SAMD9L SBDS SCARB2 SH2D1A SLC46A1 SLX4 SP110 SRP54 SRP72 STN1 TALDO1 TCIRG1 TCN2 TERC TERT TINF2 TNFRSF4 TNFSF11 UBE2T WRAP53 XIAP XRCC4

Diseases (66) :615688 210600 614576 607426 613839 305000 617052 260400 227650 227645 227646 600901 614038 77261 77259 85212 231005 230800 231000 616873 613011 243500 614470 99812 606593 277380 614700 251100 251110 604498 617780 613987 616050 259720 606054 79477 610333 2585 159550 308240 90045 613951 79124 617341 606003 259700 859 275350 615593 259710 616435 613988 616553 615122 811 614172 605432 609135 224230 610832 447 614675 127550 613990 268130 300635

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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