Human Phenotype Ontology

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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 tracheobronchial morphology (HP:0005607)

Grandparent Node:
Neoplasm of the lung (HP:0100526)

Parent Node:
Neoplasm of the tracheobronchial system (HP:0100552)

..Starting node
..Tracheobronchial leiomyomatosis (HP:0006524)

Term ID:

6524

Name:

Tracheobronchial leiomyomatosis

Synonym:

Definition:

Comments:

Reference:

HP:0006524

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alveolar cell carcinoma (HP:0006519)

Neoplasm of the trachea (HP:0100551)

Pleuropulmonary blastoma (HP:0100528)

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:0006524	HP:0006524	Tracheobronchial leiomyomatosis	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0006524	HP:0006524	Tracheobronchial leiomyomatosis	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18

Genes (2) :COL4A5 COL4A6

Diseases (1) :ORPHA:1018

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.