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 pulmonary interstitial morphology (HP:0006530)

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

..Starting node
..Interlobular septal thickening (HP:0030879)

Term ID:

30879

Name:

Interlobular septal thickening

Synonym:

Interlobular lines (pulmonary CT finding); Interlobular septal thickening on pulmonary HRCT; Peripheral lines (pulmonary CT finding); Septal lines (pulmonary CT finding); Septal thickening (pulmonary CT finding); Short lines (pumonary CT finding)

Definition:

Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.

Comments:

Reference:

HP:0030879

Genes and Diseases:

Child Nodes:

........

Smooth septal thickening on pulmonary HRCT (HP:0025172)

........

Nodular septal thickening on pulmonary HRCT (HP:0025173)

........

Irregular septal thickening on pulmonary HRCT (HP:0025174)

Sister Nodes:

Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)

Crazy paving pattern (HP:0025391)

Cystic pattern on pulmonary HRCT (HP:0025394)

Decreased attenuation pattern on pulmonary HRCT (HP:0025396)

Ground-glass opacification (HP:0025179)

Mosaic attenuation pattern on pulmonary HRCT (HP:0025397)

Nodular pattern on pulmonary HRCT (HP:0025392)

Reticular pattern on pulmonary HRCT (HP:0025390)

Reticulonodular pattern on pulmonary HRCT (HP:0025393)

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:0030879	HP:0030879	Interlobular septal thickening	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030879	HP:0030879	Interlobular septal thickening	0	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5		17
HP:0030879	HP:0030879	Interlobular septal thickening	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0030879	HP:0030879	Interlobular septal thickening	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0030879	HP:0030879	Interlobular septal thickening	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030879	HP:0030879	Interlobular septal thickening	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0030879	HP:0025174	Irregular septal thickening on pulmonary HRCT	1	CL E G H
HP:0030879	HP:0025173	Nodular septal thickening on pulmonary HRCT	1	CL E G H
HP:0030879	HP:0025172	Smooth septal thickening on pulmonary HRCT	1	CL E G H

Genes (6) :BMPR2 CSF2RB EIF2AK4 SFTPA1 SFTPB SLC34A2

Diseases (6) :OMIM:265450 OMIM:614370 ORPHA:199241 OMIM:619611 OMIM:265120 ORPHA:60025

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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