Human Phenotype Ontology

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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 lymphocyte morphology (HP:0004332)

Grandparent Node:
Leukocytosis (HP:0001974)

Parent Node:
Abnormal B cell count (HP:0010975)

Parent Node:
Lymphocytosis (HP:0100827)

..Starting node
..Increased B cell count (HP:0005404)

Term ID:

5404

Name:

Increased B cell count

Synonym:

Increase in B cell count; Increase in B cell number; Increased number of B cells

Definition:

An abnormal increase from the normal count of B cells.

Comments:

Reference:

HP:0005404

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased T cell count (HP:0100828)

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:0005404	HP:0005404	Increased B cell count	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0005404	HP:0005404	Increased B cell count	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0005404	HP:0005404	Increased B cell count	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0005404	HP:0005404	Increased B cell count	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0005404	HP:0005404	Increased B cell count	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0005404	HP:0005404	Increased B cell count	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0005404	HP:0005404	Increased B cell count	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0005404	HP:0005404	Increased B cell count	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0005404	HP:0005404	Increased B cell count	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0005404	HP:0005404	Increased B cell count	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent

Genes (8) :CARD11 CASP10 FAS FASLG NCKAP1L PRKCD PTPRC RASGRP1

Diseases (6) :OMIM:616452 ORPHA:3261 OMIM:603909 OMIM:618982 OMIM:615559 OMIM:619924

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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