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:
Abnormal lung morphology (HP:0002088)

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

..Starting node
..Interstitial pneumonitis (HP:0006515)

Term ID:

6515

Name:

Interstitial pneumonitis

Synonym:

Definition:

Comments:

Reference:

HP:0006515

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bronchiolitis obliterans (HP:0011946)

Bronchiolitis obliterans organizing pneumonia (HP:0011945)

Desquamative interstitial pneumonitis (HP:0005942)

Honeycomb lung (HP:0025175)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006515	HP:0006515	Interstitial pneumonitis	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0006515	HP:0006515	Interstitial pneumonitis	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0006515	HP:0006515	Interstitial pneumonitis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0006515	HP:0006515	Interstitial pneumonitis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0006515	HP:0006515	Interstitial pneumonitis	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0006515	HP:0006515	Interstitial pneumonitis	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0006515	HP:0006515	Interstitial pneumonitis	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0006515	HP:0006515	Interstitial pneumonitis	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0006515	HP:0006515	Interstitial pneumonitis	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional	51
HP:0006515	HP:0006515	Interstitial pneumonitis	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2	.	33
HP:0006515	HP:0006515	Interstitial pneumonitis	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0006515	HP:0006515	Interstitial pneumonitis	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0006515	HP:0006515	Interstitial pneumonitis	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0006515	HP:0006515	Interstitial pneumonitis	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0006515	HP:0006515	Interstitial pneumonitis	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0006515	HP:0033584	Nonspecific interstitial pneumonia	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0006515	HP:0006527	Lymphocytic interstitial pneumonia	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0006515	HP:0006527	Lymphocytic interstitial pneumonia	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0006515	HP:0033584	Nonspecific interstitial pneumonia	1	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0006515	HP:0033584	Nonspecific interstitial pneumonia	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0006515	HP:0006527	Lymphocytic interstitial pneumonia	1	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0006515	HP:0033586	Cellular non-specific interstitial pneumonia	2	CL E G H
HP:0006515	HP:0033585	Fibrotic non-specific interstitial pneumonia	2	CL E G H

Genes (15) :ABCA3 DOCK2 FOXP3 HLA-DPB1 IL2RB PLCG2 RAG1 SFTPA1 SFTPB SFTPC STAT3 STAT5B TERC TERT TINF2

Diseases (13) :OMIM:610921 OMIM:616433 ORPHA:37042 ORPHA:133 OMIM:618495 OMIM:614878 ORPHA:231154 OMIM:619611 ORPHA:217563 OMIM:610913 OMIM:615952 OMIM:245590 OMIM:127550

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

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