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)

Parent Node:
Abnormal bronchus morphology (HP:0025426)

..Starting node
..Bronchial cartilage hypoplasia (HP:0006539)

Term ID:

6539

Name:

Bronchial cartilage hypoplasia

Synonym:

Underdevelopment of the bronical cartilage

Definition:

Comments:

Reference:

HP:0006539

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bronchial atresia (HP:0030715)

Bronchial neoplasm (HP:0030077)

Bronchiectasis (HP:0002110)

Bronchodysplasia (HP:0006533)

Bronchomalacia (HP:0002780)

Bronchomegaly (HP:0010777)

Recurrent bronchitis (HP:0002837)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006539	HP:0006539	Bronchial cartilage hypoplasia	0	CL E G H

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.