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
..Nodular pattern on pulmonary HRCT (HP:0025392)

Term ID:

25392

Name:

Nodular pattern on pulmonary HRCT

Synonym:

Definition:

A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.

Comments:

Reference:

HP:0025392

Genes and Diseases:

Child Nodes:

........

Nodular-perilymphatic pattern on pulmonary HRCT (HP:0025398)

........

Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT (HP:0025399)

........

Nodular-random pattern on pulmonary HRCT (HP:0025400)

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)

Interlobular septal thickening (HP:0030879)

Mosaic attenuation pattern on pulmonary HRCT (HP:0025397)

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:0025392	HP:0025392	Nodular pattern on pulmonary HRCT	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0025392	HP:0025392	Nodular pattern on pulmonary HRCT	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0025392	HP:0025392	Nodular pattern on pulmonary HRCT	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0025392	HP:0025400	Nodular-random pattern on pulmonary HRCT	1	CL E G H
HP:0025392	HP:0025399	Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT	1	CL E G H
HP:0025392	HP:0025398	Nodular-perilymphatic pattern on pulmonary HRCT	1	CL E G H
HP:0025392	HP:0032972	Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT	1	CL E G H

Genes (3) :ABCA3 ASAH1 COL3A1

Diseases (3) :OMIM:610921 ORPHA:333 OMIM:130050

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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