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:
Leukemia (HP:0001909)

Parent Node:
Chronic leukemia (HP:0005558)

..Starting node
..Chronic lymphatic leukemia (HP:0005550)

Term ID:

5550

Name:

Chronic lymphatic leukemia

Synonym:

Chronic lymphatic leukaemia; Chronic lymphocytic leukaemia; Chronic lymphocytic leukemia

Definition:

A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.

Comments:

Reference:

HP:0005550

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic myelogenous leukemia (HP:0005506)

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:0005550	HP:0005550	Chronic lymphatic leukemia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	145
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	327
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare	281
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	1
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	3
HP:0005550	HP:0005550	Chronic lymphatic leukemia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56

Genes (15) :ADAR ASXL1 IFIH1 KIT LSM11 MEFV PIK3R1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SRSF2 TET2 TREX1

Diseases (4) :ORPHA:51 ORPHA:98849 ORPHA:3243 OMIM:616005

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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