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:
Abnormality of blood and blood-forming tissues (HP:0001871)

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

..Starting node
..Abnormality of multiple cell lineages in the bone marrow (HP:0012145)

Term ID:

12145

Name:

Abnormality of multiple cell lineages in the bone marrow

Synonym:

Definition:

Comments:

Reference:

HP:0012145

Genes and Diseases:

Child Nodes:

........

Pancytopenia (HP:0001876)

................... HP:0001915 Aplastic anemia

........

Megaloblastic bone marrow (HP:0001980)

........

Bone marrow hypocellularity (HP:0005528)

........

Myelofibrosis (HP:0011974)

........

Bone marrow hypercellularity (HP:0031020)

Sister Nodes:

Abnormal granulocytopoietic cell morphology (HP:0012135)

Abnormal megakaryocyte morphology (HP:0012143)

Abnormality of bone marrow stromal cells (HP:0012129)

Reduced bone-marrow pro-B cell count (HP:0020048)

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:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6		11
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency		7
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent	29
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IFNG CL E G H	3458	5438	OMIM:609135	APLASTIC ANEMIA		23
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia		105
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome		88
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form		136
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD		50
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34		12
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NBN CL E G H	4683	7652	OMIM:609135	APLASTIC ANEMIA		706
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2		27
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PRF1 CL E G H	5551	9360	OMIM:609135	APLASTIC ANEMIA		58
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SBDS CL E G H	51119	19440	OMIM:609135	APLASTIC ANEMIA		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption		101
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1		68
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia		16
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency		57
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency		57
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2		48
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	OMIM:609135	APLASTIC ANEMIA		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T		2
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0012145	HP:0012145	Abnormality of multiple cell lineages in the bone marrow	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0012145	HP:0001876	Pancytopenia	1	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	11
HP:0012145	HP:0001876	Pancytopenia	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040284 - Very rare	16
HP:0012145	HP:0001876	Pancytopenia	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0012145	HP:0001876	Pancytopenia	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0012145	HP:0001876	Pancytopenia	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0012145	HP:0001876	Pancytopenia	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0012145	HP:0001876	Pancytopenia	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0012145	HP:0001876	Pancytopenia	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0012145	HP:0001876	Pancytopenia	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0012145	HP:0001876	Pancytopenia	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1	.	7642
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0012145	HP:0001876	Pancytopenia	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0012145	HP:0011974	Myelofibrosis	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	1
HP:0012145	HP:0011974	Myelofibrosis	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0012145	HP:0001876	Pancytopenia	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0012145	HP:0001876	Pancytopenia	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0012145	HP:0001876	Pancytopenia	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0012145	HP:0001876	Pancytopenia	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	118
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	HP:0040283 - Occasional	102
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0012145	HP:0001876	Pancytopenia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0012145	HP:0001876	Pancytopenia	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0012145	HP:0001876	Pancytopenia	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	HP:0040283 - Occasional	160
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0012145	HP:0001876	Pancytopenia	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0012145	HP:0001876	Pancytopenia	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0012145	HP:0001876	Pancytopenia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	65
HP:0012145	HP:0001876	Pancytopenia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0012145	HP:0001876	Pancytopenia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0012145	HP:0001876	Pancytopenia	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0012145	HP:0001876	Pancytopenia	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012145	HP:0001876	Pancytopenia	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0012145	HP:0001876	Pancytopenia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0012145	HP:0001876	Pancytopenia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.	4
HP:0012145	HP:0001876	Pancytopenia	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0012145	HP:0001876	Pancytopenia	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012145	HP:0001876	Pancytopenia	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0012145	HP:0001876	Pancytopenia	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0012145	HP:0001876	Pancytopenia	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0012145	HP:0001876	Pancytopenia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0012145	HP:0001876	Pancytopenia	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent	8
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0012145	HP:0001876	Pancytopenia	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0012145	HP:0001876	Pancytopenia	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.	137
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040283 - Occasional	137
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0012145	HP:0001876	Pancytopenia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0012145	HP:0001876	Pancytopenia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0012145	HP:0011974	Myelofibrosis	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0012145	HP:0001876	Pancytopenia	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0012145	HP:0001876	Pancytopenia	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	HP:0040284 - Very rare
HP:0012145	HP:0001876	Pancytopenia	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0012145	HP:0001876	Pancytopenia	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0012145	HP:0001876	Pancytopenia	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	IFNG CL E G H	3458	5438	OMIM:609135	APLASTIC ANEMIA		23
HP:0012145	HP:0001876	Pancytopenia	1	IFNG CL E G H	3458	5438	OMIM:609135	APLASTIC ANEMIA		23
HP:0012145	HP:0001876	Pancytopenia	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	23
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	23
HP:0012145	HP:0001876	Pancytopenia	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0012145	HP:0001876	Pancytopenia	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0012145	HP:0001876	Pancytopenia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0012145	HP:0001876	Pancytopenia	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0012145	HP:0001876	Pancytopenia	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0012145	HP:0001876	Pancytopenia	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0012145	HP:0001876	Pancytopenia	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0012145	HP:0011974	Myelofibrosis	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	57
HP:0012145	HP:0011974	Myelofibrosis	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0012145	HP:0011974	Myelofibrosis	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0012145	HP:0001876	Pancytopenia	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0012145	HP:0001876	Pancytopenia	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012145	HP:0001876	Pancytopenia	1	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0012145	HP:0001876	Pancytopenia	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0012145	HP:0001876	Pancytopenia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0012145	HP:0001876	Pancytopenia	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0012145	HP:0001876	Pancytopenia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0012145	HP:0001876	Pancytopenia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040284 - Very rare	136
HP:0012145	HP:0001876	Pancytopenia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0012145	HP:0001876	Pancytopenia	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0012145	HP:0001876	Pancytopenia	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0012145	HP:0001980	Megaloblastic bone marrow	1	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent	50
HP:0012145	HP:0011974	Myelofibrosis	1	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis	.	1
HP:0012145	HP:0001876	Pancytopenia	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.	97
HP:0012145	HP:0011974	Myelofibrosis	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	97
HP:0012145	HP:0011974	Myelofibrosis	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0012145	HP:0011974	Myelofibrosis	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0012145	HP:0001876	Pancytopenia	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0012145	HP:0001876	Pancytopenia	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0012145	HP:0001876	Pancytopenia	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0012145	HP:0001980	Megaloblastic bone marrow	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040281 - Very frequent	88
HP:0012145	HP:0001876	Pancytopenia	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040281 - Very frequent
HP:0012145	HP:0001876	Pancytopenia	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012145	HP:0001876	Pancytopenia	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	HP:0040284 - Very rare
HP:0012145	HP:0011974	Myelofibrosis	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NBN CL E G H	4683	7652	OMIM:609135	APLASTIC ANEMIA		706
HP:0012145	HP:0001876	Pancytopenia	1	NBN CL E G H	4683	7652	OMIM:609135	APLASTIC ANEMIA		706
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0012145	HP:0001876	Pancytopenia	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0012145	HP:0001876	Pancytopenia	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.	27
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.	27
HP:0012145	HP:0001876	Pancytopenia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0012145	HP:0001876	Pancytopenia	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0012145	HP:0001876	Pancytopenia	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0012145	HP:0001876	Pancytopenia	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0012145	HP:0001876	Pancytopenia	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012145	HP:0001876	Pancytopenia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0012145	HP:0001876	Pancytopenia	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	26
HP:0012145	HP:0001876	Pancytopenia	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0012145	HP:0001876	Pancytopenia	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0012145	HP:0001876	Pancytopenia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0012145	HP:0001876	Pancytopenia	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0012145	HP:0001876	Pancytopenia	1	PRF1 CL E G H	5551	9360	OMIM:609135	APLASTIC ANEMIA		58
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PRF1 CL E G H	5551	9360	OMIM:609135	APLASTIC ANEMIA		58
HP:0012145	HP:0001876	Pancytopenia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012145	HP:0001876	Pancytopenia	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	58
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	58
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0012145	HP:0001876	Pancytopenia	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0012145	HP:0001876	Pancytopenia	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	.	96
HP:0012145	HP:0001876	Pancytopenia	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0012145	HP:0001876	Pancytopenia	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent	67
HP:0012145	HP:0001876	Pancytopenia	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012145	HP:0001876	Pancytopenia	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0012145	HP:0001876	Pancytopenia	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0012145	HP:0001876	Pancytopenia	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	38
HP:0012145	HP:0001876	Pancytopenia	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	26
HP:0012145	HP:0001876	Pancytopenia	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040283 - Occasional	34
HP:0012145	HP:0001876	Pancytopenia	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0012145	HP:0001876	Pancytopenia	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	77
HP:0012145	HP:0001876	Pancytopenia	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0012145	HP:0001876	Pancytopenia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0012145	HP:0001876	Pancytopenia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0012145	HP:0001876	Pancytopenia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040283 - Occasional	4
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SBDS CL E G H	51119	19440	OMIM:609135	APLASTIC ANEMIA		26
HP:0012145	HP:0001876	Pancytopenia	1	SBDS CL E G H	51119	19440	OMIM:609135	APLASTIC ANEMIA		26
HP:0012145	HP:0001876	Pancytopenia	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	26
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	26
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0012145	HP:0001876	Pancytopenia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0012145	HP:0001876	Pancytopenia	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0012145	HP:0001876	Pancytopenia	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent	77
HP:0012145	HP:0001876	Pancytopenia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0012145	HP:0011974	Myelofibrosis	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	4
HP:0012145	HP:0011974	Myelofibrosis	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0012145	HP:0001876	Pancytopenia	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0012145	HP:0011974	Myelofibrosis	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0012145	HP:0001876	Pancytopenia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0012145	HP:0001876	Pancytopenia	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.	274
HP:0012145	HP:0001876	Pancytopenia	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040284 - Very rare	74
HP:0012145	HP:0001876	Pancytopenia	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0012145	HP:0011974	Myelofibrosis	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0012145	HP:0001876	Pancytopenia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0012145	HP:0001876	Pancytopenia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0012145	HP:0001876	Pancytopenia	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0012145	HP:0001876	Pancytopenia	1	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1	.	68
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1	.	68
HP:0012145	HP:0001876	Pancytopenia	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0012145	HP:0001876	Pancytopenia	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0012145	HP:0001876	Pancytopenia	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0012145	HP:0001876	Pancytopenia	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0012145	HP:0001876	Pancytopenia	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0012145	HP:0001876	Pancytopenia	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0012145	HP:0011974	Myelofibrosis	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.	16
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.	16
HP:0012145	HP:0001876	Pancytopenia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0012145	HP:0001876	Pancytopenia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0012145	HP:0001876	Pancytopenia	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0012145	HP:0001876	Pancytopenia	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040282 - Frequent	57
HP:0012145	HP:0001980	Megaloblastic bone marrow	1	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040281 - Very frequent	57
HP:0012145	HP:0001876	Pancytopenia	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0012145	HP:0001980	Megaloblastic bone marrow	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0012145	HP:0001876	Pancytopenia	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	48
HP:0012145	HP:0001876	Pancytopenia	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	48
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0012145	HP:0001876	Pancytopenia	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0012145	HP:0001876	Pancytopenia	1	TERT CL E G H	7015	11730	OMIM:609135	APLASTIC ANEMIA		238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	OMIM:609135	APLASTIC ANEMIA		238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0012145	HP:0001876	Pancytopenia	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0012145	HP:0001876	Pancytopenia	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	238
HP:0012145	HP:0001876	Pancytopenia	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040282 - Frequent	238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	238
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0012145	HP:0001876	Pancytopenia	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0012145	HP:0001876	Pancytopenia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0012145	HP:0001876	Pancytopenia	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0012145	HP:0011974	Myelofibrosis	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	3
HP:0012145	HP:0011974	Myelofibrosis	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0012145	HP:0001876	Pancytopenia	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040283 - Occasional	3
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease	.	13
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0012145	HP:0001876	Pancytopenia	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0012145	HP:0001876	Pancytopenia	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	60
HP:0012145	HP:0001876	Pancytopenia	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012145	HP:0011974	Myelofibrosis	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012145	HP:0001876	Pancytopenia	1	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16		2
HP:0012145	HP:0001876	Pancytopenia	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0012145	HP:0011974	Myelofibrosis	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	911
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.	2
HP:0012145	HP:0001876	Pancytopenia	1	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.	2
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0012145	HP:0001876	Pancytopenia	1	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	.	40
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	.	40
HP:0012145	HP:0001876	Pancytopenia	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0012145	HP:0001876	Pancytopenia	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	HP:0040284 - Very rare	81
HP:0012145	HP:0001876	Pancytopenia	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0012145	HP:0031020	Bone marrow hypercellularity	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0012145	HP:0001876	Pancytopenia	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0012145	HP:0005528	Bone marrow hypocellularity	1	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0012145	HP:0001876	Pancytopenia	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012145	HP:0001915	Aplastic anemia	2	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0012145	HP:0001915	Aplastic anemia	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0012145	HP:0001915	Aplastic anemia	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0012145	HP:0001915	Aplastic anemia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0012145	HP:0001915	Aplastic anemia	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0012145	HP:0001915	Aplastic anemia	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0012145	HP:0001915	Aplastic anemia	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0012145	HP:0001915	Aplastic anemia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0012145	HP:0001915	Aplastic anemia	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0012145	HP:0001915	Aplastic anemia	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	HP:0040283 - Occasional	137
HP:0012145	HP:0001915	Aplastic anemia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0012145	HP:0001915	Aplastic anemia	2	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0012145	HP:0001915	Aplastic anemia	2	IFNG CL E G H	3458	5438	OMIM:609135	APLASTIC ANEMIA		23
HP:0012145	HP:0001915	Aplastic anemia	2	NBN CL E G H	4683	7652	OMIM:609135	APLASTIC ANEMIA		706
HP:0012145	HP:0001915	Aplastic anemia	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0012145	HP:0001915	Aplastic anemia	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0012145	HP:0001915	Aplastic anemia	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0012145	HP:0001915	Aplastic anemia	2	PRF1 CL E G H	5551	9360	OMIM:609135	APLASTIC ANEMIA		58
HP:0012145	HP:0001915	Aplastic anemia	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare	445
HP:0012145	HP:0001915	Aplastic anemia	2	SBDS CL E G H	51119	19440	OMIM:609135	APLASTIC ANEMIA		26
HP:0012145	HP:0001915	Aplastic anemia	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0012145	HP:0001915	Aplastic anemia	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012145	HP:0001915	Aplastic anemia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0012145	HP:0001915	Aplastic anemia	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0012145	HP:0001915	Aplastic anemia	2	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1	.	68
HP:0012145	HP:0001915	Aplastic anemia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0012145	HP:0001915	Aplastic anemia	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0012145	HP:0001915	Aplastic anemia	2	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0012145	HP:0001915	Aplastic anemia	2	TERT CL E G H	7015	11730	OMIM:609135	APLASTIC ANEMIA		238
HP:0012145	HP:0001915	Aplastic anemia	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0012145	HP:0001915	Aplastic anemia	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0012145	HP:0001915	Aplastic anemia	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0012145	HP:0001915	Aplastic anemia	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0012145	HP:0001915	Aplastic anemia	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0012145	HP:0001915	Aplastic anemia	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0012145	HP:0001915	Aplastic anemia	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012145	HP:0001915	Aplastic anemia	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	HP:0040284 - Very rare	81

Genes (171) :ACD ACP5 ADA2 ADH5 ALPK1 AMN ANAPC1 ASXL1 ATR BACH2 BCOR BRCA2 BRIP1 CA2 CALR CASP10 CBL CD27 CIITA CLCN7 CLPB COG6 COQ2 CTC1 CUBN CXCR4 DDX41 DHFR DKC1 DNAJC21 DNASE2 DUT EFL1 ELANE ERCC4 ERCC6L2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FARSB FAS FASLG FIP1L1 FLI1 GATA1 GATA2 GBA1 GFI1 GFI1B GNAS HAVCR2 HLA-DRB1 HOXA11 IFIH1 IFNG IKZF1 IRF2BP2 ITCH ITK IVD JAK2 KIT KRAS LBR LIG4 LMBRD1 LRBA LYST MAD2L2 MAN2B1 MDM4 MMAA MMAB MMADHC MPIG6B MPL MRPS7 MTHFD1 MTRR MYSM1 NABP1 NAXD NBEAL2 NBN NHP2 NLRC4 NOP10 NPM1 NRAS NUMA1 OSTM1 PALB2 PARN PCCA PCCB PGM3 PIGA PML PRF1 PRKAR1A PRKCD PSTPIP1 PTPRC RAB27A RAC2 RARA RASGRP1 RECQL4 RFX5 RFXANK RFXAP RNASEH2A RPA1 RPL26 RPS14 RTEL1 RUNX1 SAMD9 SAMD9L SBDS SCARB2 SF3B1 SH2B3 SH2D1A SHOC2 SLC46A1 SLC7A7 SLX4 SMARCAL1 SP110 SRC SRP54 SRP72 SRSF2 STAT3 STAT5B STN1 STX11 STXBP2 TALDO1 TBL1XR1 TBXAS1 TCF3 TCIRG1 TCN2 TERC TERT TET2 TGFB1 TINF2 TLR8 TNFRSF4 TNFSF11 TP53 TYMS UBE2T UNC13D USB1 VPS33A WDR19 WRAP53 XIAP XRCC4 ZBTB16 ZCCHC8 ZNF699

Diseases (162) :OMIM:616553 ORPHA:3322 ORPHA:1855 OMIM:615688 OMIM:619151 OMIM:614979 ORPHA:35858 ORPHA:221008 ORPHA:98850 ORPHA:98849 OMIM:210600 OMIM:618394 ORPHA:520 OMIM:605724 OMIM:609054 ORPHA:2785 ORPHA:3318 OMIM:254450 ORPHA:824 ORPHA:3261 OMIM:615122 ORPHA:572 OMIM:166600 ORPHA:445038 ORPHA:486 OMIM:614576 OMIM:607426 OMIM:612199 ORPHA:1775 ORPHA:51636 OMIM:193670 OMIM:616871 OMIM:613839 OMIM:305000 OMIM:617052 ORPHA:811 OMIM:260400 OMIM:619858 OMIM:620044 OMIM:615272 OMIM:615715 OMIM:227650 OMIM:300514 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:613658 ORPHA:2308 ORPHA:67044 ORPHA:3226 OMIM:614172 OMIM:614038 ORPHA:98827 ORPHA:85212 ORPHA:77259 ORPHA:77261 OMIM:230800 OMIM:231000 OMIM:231005 ORPHA:2072 OMIM:187900 ORPHA:562 OMIM:618398 OMIM:181000 OMIM:605432 OMIM:615846 OMIM:609135 ORPHA:88 OMIM:618963 OMIM:616873 OMIM:613385 ORPHA:228426 OMIM:613011 OMIM:243500 ORPHA:729 OMIM:614470 OMIM:215140 ORPHA:99812 OMIM:606593 OMIM:277380 OMIM:614700 ORPHA:167 OMIM:617243 ORPHA:309288 ORPHA:309282 OMIM:618849 OMIM:251100 OMIM:251110 ORPHA:79283 OMIM:617441 OMIM:604498 OMIM:617872 OMIM:617780 ORPHA:2169 OMIM:618116 ORPHA:508542 OMIM:618321 OMIM:139090 OMIM:224230 OMIM:613987 OMIM:616050 OMIM:259720 OMIM:610832 OMIM:616353 OMIM:606054 ORPHA:443811 ORPHA:447 ORPHA:540 OMIM:603553 OMIM:604416 OMIM:619924 ORPHA:79477 OMIM:618986 ORPHA:221016 OMIM:610333 OMIM:619767 OMIM:614900 ORPHA:86841 OMIM:615190 OMIM:619041 ORPHA:2585 OMIM:159550 ORPHA:75564 OMIM:308240 OMIM:607721 ORPHA:90045 ORPHA:470 OMIM:613951 OMIM:242900 ORPHA:1830 ORPHA:79124 OMIM:616937 OMIM:614675 OMIM:617341 OMIM:606003 OMIM:231095 OMIM:619824 OMIM:259700 ORPHA:859 OMIM:275350 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:614742 ORPHA:98826 OMIM:131300 OMIM:613990 OMIM:268130 OMIM:301078 OMIM:615593 OMIM:259710 OMIM:616435 ORPHA:505248 OMIM:617303 OMIM:614378 OMIM:613988 OMIM:300635 OMIM:618674 OMIM:619488

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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