Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Bone marrow hypocellularity (HP:0005528)

Term ID:

5528

Name:

Bone marrow hypocellularity

Synonym:

Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow

Definition:

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

Comments:

Reference:

HP:0005528

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bone marrow hypercellularity (HP:0031020)

Megaloblastic bone marrow (HP:0001980)

Myelofibrosis (HP:0011974)

Pancytopenia (HP:0001876)

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:0005528	HP:0005528	Bone marrow hypocellularity	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	11
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1	.	7642
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	HP:0040283 - Occasional	102
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	HP:0040283 - Occasional	160
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	65
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.	158
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.	4
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent	8
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040283 - Occasional	137
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	IFNG CL E G H	3458	5438	OMIM:609135	APLASTIC ANEMIA		23
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	23
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.	1
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	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:0005528	HP:0005528	Bone marrow hypocellularity	0	NBN CL E G H	4683	7652	OMIM:609135	APLASTIC ANEMIA		706
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.	27
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	26
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PRF1 CL E G H	5551	9360	OMIM:609135	APLASTIC ANEMIA		58
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	58
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	77
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SBDS CL E G H	51119	19440	OMIM:609135	APLASTIC ANEMIA		26
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	26
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040284 - Very rare	74
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	SRP72 CL E G H	6731	11303	OMIM:614675	Bone marrow failure syndrome 1	.	68
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.	16
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	48
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	OMIM:609135	APLASTIC ANEMIA		238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040281 - Very frequent	238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TET2 CL E G H	54790	25941	ORPHA:98826	Refractory anemia	HP:0040283 - Occasional	3
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease	.	13
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional	60
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	UBE2T CL E G H	29089	25009	OMIM:616435	Fanconi anemia, complementation group T	.	2
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	.	40
HP:0005528	HP:0005528	Bone marrow hypocellularity	0	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1

Genes (65) :ACD ADA2 ADH5 BRCA2 BRIP1 CA2 CASP10 CLCN7 CLPB CTC1 DDX41 DKC1 DNAJC21 EFL1 ERCC4 ERCC6L2 FANCC FANCD2 FANCF FANCI FANCL FAS FASLG FLI1 GATA2 GNAS IFNG IVD LBR MAD2L2 MDM4 MYSM1 NBN NHP2 NOP10 NPM1 PARN PGM3 PRF1 PRKCD RASGRP1 RPA1 RPL26 RPS14 RTEL1 SAMD9 SBDS SF3B1 SMARCAL1 SRP54 SRP72 TBXAS1 TERC TERT TET2 TGFB1 TINF2 TLR8 TYMS UBE2T USB1 VPS33A WDR19 WRAP53 ZCCHC8

Diseases (63) :OMIM:616553 ORPHA:3322 OMIM:615688 OMIM:619151 OMIM:605724 OMIM:609054 ORPHA:2785 ORPHA:3261 OMIM:166600 ORPHA:445038 OMIM:612199 ORPHA:1775 OMIM:616871 OMIM:305000 OMIM:617052 ORPHA:811 OMIM:615272 OMIM:615715 OMIM:227645 OMIM:227646 OMIM:603467 OMIM:609053 OMIM:614083 ORPHA:2308 ORPHA:3226 ORPHA:98827 ORPHA:562 OMIM:609135 ORPHA:88 OMIM:243500 OMIM:215140 OMIM:617243 OMIM:618849 OMIM:618116 ORPHA:508542 OMIM:224230 OMIM:613987 OMIM:616353 ORPHA:443811 OMIM:619767 OMIM:614900 ORPHA:86841 OMIM:615190 OMIM:619041 ORPHA:75564 ORPHA:1830 OMIM:614675 OMIM:231095 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:614742 ORPHA:98826 OMIM:131300 OMIM:613990 OMIM:268130 OMIM:301078 OMIM:616435 ORPHA:505248 OMIM:617303 OMIM:614378 OMIM:613988 OMIM:618674

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen