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
..Desquamative interstitial pneumonitis (HP:0005942)

Term ID:

5942

Name:

Desquamative interstitial pneumonitis

Synonym:

Filling of the alveoli with alveolar macrophages; Filling of the alveoli with desquamated epithelial cells; Intra-alveolar accumulation of macrophages

Definition:

Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.

Comments:

Reference:

HP:0005942

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bronchiolitis obliterans (HP:0011946)

Bronchiolitis obliterans organizing pneumonia (HP:0011945)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005942	HP:0005942	Desquamative interstitial pneumonitis	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0005942	HP:0005942	Desquamative interstitial pneumonitis	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	.	51
HP:0005942	HP:0005942	Desquamative interstitial pneumonitis	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0005942	HP:0005942	Desquamative interstitial pneumonitis	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110

Genes (4) :ABCA3 SFTPB SFTPC STAT3

Diseases (4) :OMIM:610921 OMIM:265120 OMIM:610913 OMIM:615952

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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