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:
All (HP:0000001)

Parent Node:
Phenotypic abnormality (HP:0000118)

..Starting node
..Abnormality of the thoracic cavity (HP:0045027)

Term ID:

45027

Name:

Abnormality of the thoracic cavity

Synonym:

Definition:

Comments:

Reference:

HP:0045027

Genes and Diseases:

Child Nodes:

........

Abnormality of the mediastinum (HP:0045026)

................... HP:0025421 Pneumomediastinum
................... HP:0100721 Mediastinal lymphadenopathy

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 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 voice (HP:0001608)

Constitutional symptom (HP:0025142)

Growth abnormality (HP:0001507)

Neoplasm (HP:0002664)

obsolete Abnormal test result (HP:0500014)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045027	HP:0045027	Abnormality of the thoracic cavity	0	CL E G H
HP:0045027	HP:0045026	Abnormality of the mediastinum	1	CL E G H
HP:0045027	HP:0100721	Mediastinal lymphadenopathy	2	CL E G H
HP:0045027	HP:0025421	Pneumomediastinum	2	CL E G H

Genes (23) :APOE BCL10 BCL2 BCL6 BIRC3 BRD4 CYBA CYBB CYBC1 EWSR1 FOXP1 HLA-DRB1 IGH MALT1 NCF1 NCF2 NCF4 NUTM1 PLG PORCN PTPN22 RHBDF2 WT1

Diseases (10) :443167 97231 2092 2198 158029 52417 545 379 83469 397

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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