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 lung morphology (HP:0002088)

Parent Node:
Abnormal pulmonary interstitial morphology (HP:0006530)

..Starting node
..Bronchiolitis obliterans (HP:0011946)

Term ID:

11946

Name:

Bronchiolitis obliterans

Synonym:

Constrictive bronchiolitis; Obliterative bronchiolitis

Definition:

Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.

Comments:

Reference:

HP:0011946

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bronchiolitis obliterans organizing pneumonia (HP:0011945)

Desquamative interstitial pneumonitis (HP:0005942)

Honeycomb lung (HP:0025175)

Interstitial pneumonitis (HP:0006515)

Intralobular interstitial thickening (HP:0025176)

Lymphocytic interstitial pneumonia (HP:0006527)

Peribronchovascular interstitial thickening (HP:0025177)

Pulmonary interstitial high-resolution computed tomography abnormality (HP:0025389)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011946	HP:0011946	Bronchiolitis obliterans	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	109
HP:0011946	HP:0011946	Bronchiolitis obliterans	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS	2

Genes (2) :BTK NSMCE3

Diseases (2) :OMIM:300755 OMIM:617241

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