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 bone marrow cell morphology (HP:0005561)

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

..Starting node
..Bone marrow hypercellularity (HP:0031020)

Term ID:

31020

Name:

Bone marrow hypercellularity

Synonym:

Definition:

A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.

Comments:

Reference:

HP:0031020

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bone marrow hypocellularity (HP:0005528)

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:0031020	HP:0031020	Bone marrow hypercellularity	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6		15
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0031020	HP:0031020	Bone marrow hypercellularity	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1

Genes (29) :ASXL1 BCOR CALR CASP10 CXCR4 FAS FASLG FIP1L1 IRF2BP2 JAK2 KIT MPL NABP1 NPM1 NUMA1 PML PRKAR1A PRKCD RARA RASGRP1 RPS14 SLC7A7 SRC SRSF2 STAT3 STAT5B TBL1XR1 TET2 ZBTB16

Diseases (9) :ORPHA:98849 ORPHA:520 ORPHA:824 ORPHA:3261 ORPHA:51636 OMIM:193670 ORPHA:86841 ORPHA:470 OMIM:616937

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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