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 integument (HP:0001574)

help

Term ID:	1574
Name:	Abnormality of the integument
Synonym:
Definition:	An abnormality of the integument, which consists of the skin and the superficial fascia.
Comments:
Reference:	HP:0001574
Genes and Diseases:	There are 986 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the skin (HP:0000951) ................... HP:0008069 Neoplasm of the skin ................... HP:0011121 Abnormality of skin morphology ................... HP:0011122 Abnormality of skin physiology
........Abnormality of skin adnexa morphology (HP:0011138) ................... HP:0000971 Abnormality of the sweat gland ................... HP:0001595 Abnormality of the hair ................... HP:0001597 Abnormality of the nail ................... HP:0012842 Skin appendage neoplasm
........Abnormality of skin adnexa physiology (HP:0025276) ................... HP:0000970 Anhidrosis ................... HP:0007451 Ipsilateral lack of facial sweating ................... HP:0007459 Generalized anhidrosis ................... HP:0007550 Hypohidrosis or hyperhidrosis ................... HP:0025277 Gustatory sweating ................... HP:0025278 Cold-induced sweating
........Abnormality of platysma (HP:3000013)
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 immune system (HP:0002715)
..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