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

CHLA_Logo

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

Human Phenotype Ontology

Grandparent Node:
All (HP:0000001)

help

Parent Node:
Phenotypic abnormality (HP:0000118)

help

..Starting node
..Abnormality of the immune system (HP:0002715)

help

Term ID:	2715
Name:	Abnormality of the immune system
Synonym:	Abnormality of the immune system; Immunological abnormality
Definition:	An abnormality of the immune system.
Comments:
Reference:	HP:0002715
Genes and Diseases:	There are 1245 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of immune system physiology (HP:0010978) ................... HP:0002719 Recurrent infections ................... HP:0002721 Immunodeficiency ................... HP:0002958 Immune dysregulation ................... HP:0002960 Autoimmunity ................... HP:0005368 Abnormality of humoral immunity ................... HP:0011111 Abnormality of immune serum protein physiology ................... HP:0012647 Abnormal inflammatory response ................... HP:0031035 Chronic infection ................... HP:0031383 Abnormal lymphocyte surface marker expression ................... HP:0031389 Abnormal MHC II surface expression ................... HP:0031404 Impaired antigen-specific response ................... HP:0031409 Abnormal lymphocyte physiology ................... HP:0031690 Opportunistic infection ................... HP:0100326 Immunologic hypersensitivity ................... HP:0100806 Sepsis
........Abnormality of cellular immune system (HP:0010987) ................... HP:0001881 Abnormal leukocyte morphology
........Abnormality of the lymphatic system (HP:0100763) ................... HP:0000777 Abnormality of the thymus ................... HP:0001743 Abnormality of the spleen ................... HP:0002733 Abnormality of the lymph nodes ................... HP:0006529 Abnormal pulmonary lymphatics ................... HP:0100764 Lymphangioma ................... HP:0100765 Abnormality of the tonsils ................... HP:0100766 Abnormal lymphatic vessel morphology
Sister Nodes:
..Abnormal cellular phenotype (HP:0025354)
..Abnormality of blood and blood-forming tissues (HP:0001871)
..Abnormality of connective tissue (HP:0003549)
..Abnormality of head or neck (HP:0000152)
..Abnormality of limbs (HP:0040064)
..Abnormality of metabolism/homeostasis (HP:0001939)
..Abnormality of prenatal development or birth (HP:0001197)
..Abnormality of the breast (HP:0000769)
..Abnormality of the cardiovascular system (HP:0001626)
..Abnormality of the digestive system (HP:0025031)
..Abnormality of the ear (HP:0000598)
..Abnormality of the endocrine system (HP:0000818)
..Abnormality of the eye (HP:0000478)
..Abnormality of the genitourinary system (HP:0000119)
..Abnormality of the integument (HP:0001574)
..Abnormality of the musculature (HP:0003011)
..Abnormality of the nervous system (HP:0000707)
..Abnormality of the respiratory system (HP:0002086)
..Abnormality of the skeletal system (HP:0000924)
..Abnormality of the thoracic cavity (HP:0045027)
..Abnormality of the voice (HP:0001608)
..Constitutional symptom (HP:0025142)
..Growth abnormality (HP:0001507)
..Neoplasm (HP:0002664)
..obsolete Abnormal test result (HP:0500014)
Genes (0) : Diseases (0) :
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2024 The MSeqDR Consortium
All rights reserved

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen