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:
Abnormal leukocyte morphology (HP:0001881)

Grandparent Node:
Hematological neoplasm (HP:0004377)

Parent Node:
Leukemia (HP:0001909)

..Starting node
..Chronic leukemia (HP:0005558)

Term ID:

5558

Name:

Chronic leukemia

Synonym:

Chronic blood cancer; Chronic leukaemia

Definition:

A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.

Comments:

Reference:

HP:0005558

Genes and Diseases:

Child Nodes:

........

Chronic myelogenous leukemia (HP:0005506)

........

Chronic lymphatic leukemia (HP:0005550)

Sister Nodes:

Acute leukemia (HP:0002488)

Lymphoid leukemia (HP:0005526)

Myeloid leukemia (HP:0012324)

Myeloproliferative disorder (HP:0005547)

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:0005558	HP:0005558	Chronic leukemia	0	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0005558	HP:0005558	Chronic leukemia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0005558	HP:0005558	Chronic leukemia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0005558	HP:0005558	Chronic leukemia	0	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0005558	HP:0005558	Chronic leukemia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0005558	HP:0005558	Chronic leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0005558	HP:0005558	Chronic leukemia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0005558	HP:0005558	Chronic leukemia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0005558	HP:0005558	Chronic leukemia	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0005558	HP:0005558	Chronic leukemia	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0005558	HP:0005558	Chronic leukemia	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0005558	HP:0005558	Chronic leukemia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0005558	HP:0005558	Chronic leukemia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0005558	HP:0005558	Chronic leukemia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0005558	HP:0005558	Chronic leukemia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0005558	HP:0005558	Chronic leukemia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0005558	HP:0005558	Chronic leukemia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0005558	HP:0005558	Chronic leukemia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0005558	HP:0005558	Chronic leukemia	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0005558	HP:0005558	Chronic leukemia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0005558	HP:0005558	Chronic leukemia	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0005558	HP:0005558	Chronic leukemia	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0005558	HP:0005506	Chronic myelogenous leukemia	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	145
HP:0005558	HP:0005506	Chronic myelogenous leukemia	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0005558	HP:0005506	Chronic myelogenous leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	327
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare	281
HP:0005558	HP:0005506	Chronic myelogenous leukemia	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	1
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	3
HP:0005558	HP:0005506	Chronic myelogenous leukemia	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0005558	HP:0005550	Chronic lymphatic leukemia	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56

Genes (22) :ABL1 ADAR ASXL1 BCR IFIH1 JAK2 KIT LSM11 MEFV MPL PIK3R1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SRSF2 TET2 THPO TREX1 WAS WIPF1

Diseases (7) :OMIM:608232 ORPHA:51 ORPHA:98849 ORPHA:71493 ORPHA:3243 OMIM:616005 ORPHA:906

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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