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:
Abnormal leukocyte count (HP:0011893)

Parent Node:
Abnormal lymphocyte morphology (HP:0004332)

Parent Node:
Leukocytosis (HP:0001974)

..Starting node
..Lymphocytosis (HP:0100827)

Term ID:

100827

Name:

Lymphocytosis

Synonym:

High lymphocyte count

Definition:

Increase in the number or proportion of lymphocytes in the blood.

Comments:

Reference:

HP:0100827

Genes and Diseases:

Child Nodes:

........

Increased B cell count (HP:0005404)

........

Increased T cell count (HP:0100828)

Sister Nodes:

Eosinophilia (HP:0001880)

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:0100827	HP:0100827	Lymphocytosis	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0100827	HP:0100827	Lymphocytosis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0100827	HP:0100827	Lymphocytosis	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0100827	HP:0100827	Lymphocytosis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0100827	HP:0100827	Lymphocytosis	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0100827	HP:0100827	Lymphocytosis	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0100827	HP:0100827	Lymphocytosis	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100827	HP:0100827	Lymphocytosis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0100827	HP:0100827	Lymphocytosis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0100827	HP:0100827	Lymphocytosis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100827	HP:0100827	Lymphocytosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0100827	HP:0100827	Lymphocytosis	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0100827	HP:0100827	Lymphocytosis	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0100827	HP:0100827	Lymphocytosis	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0100827	HP:0100827	Lymphocytosis	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0100827	HP:0100827	Lymphocytosis	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0100827	HP:0100827	Lymphocytosis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0100827	HP:0100827	Lymphocytosis	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0100827	HP:0100827	Lymphocytosis	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0100827	HP:0100827	Lymphocytosis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0100827	HP:0100827	Lymphocytosis	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0100827	HP:0100827	Lymphocytosis	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	.	34
HP:0100827	HP:0100827	Lymphocytosis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0100827	HP:0100827	Lymphocytosis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81
HP:0100827	HP:0100827	Lymphocytosis	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0100827	HP:0100828	Increased T cell count	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0100827	HP:0005404	Increased B cell count	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0100827	HP:0005404	Increased B cell count	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0100827	HP:0005404	Increased B cell count	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0100827	HP:0005404	Increased B cell count	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0100827	HP:0005404	Increased B cell count	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0100827	HP:0100828	Increased T cell count	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0100827	HP:0005404	Increased B cell count	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0100827	HP:0005404	Increased B cell count	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0100827	HP:0005404	Increased B cell count	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0100827	HP:0005404	Increased B cell count	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0100827	HP:0005404	Increased B cell count	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent

Genes (23) :ARPC1B BTNL2 CARD11 CASP10 EIF2AK3 ELF4 FAS FASLG FOCAD HLA-DRB1 IL7R KRAS LMNB2 NCKAP1L NRAS PRKCD PTPRC RASGRP1 REL RNASEH2B SH2D1A XIAP ZAP70

Diseases (18) :OMIM:617718 ORPHA:797 OMIM:616452 ORPHA:3261 OMIM:603909 ORPHA:1667 OMIM:301074 OMIM:619991 ORPHA:169154 OMIM:614470 ORPHA:79087 OMIM:618982 OMIM:615559 OMIM:619924 OMIM:619652 OMIM:610181 OMIM:308240 ORPHA:911

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