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

Parent Node:
Pulmonary opacity (HP:0031457)

..Starting node
..Ground-glass opacification (HP:0025179)

Term ID:

25179

Name:

Ground-glass opacification

Synonym:

GGO; Ground glass opacities; Ground-glass opacification on pulmonary HRCT

Definition:

On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.

Comments:

Reference:

HP:0025179

Genes and Diseases:

Child Nodes:

........

Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180)

Sister Nodes:

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:0025179	HP:0025179	Ground-glass opacification	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	147
HP:0025179	HP:0025179	Ground-glass opacification	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0025179	HP:0025179	Ground-glass opacification	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0025179	HP:0025179	Ground-glass opacification	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0025179	HP:0025179	Ground-glass opacification	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0025179	HP:0025179	Ground-glass opacification	0	CSF2RB CL E G H	1439	2436	OMIM:614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5		17
HP:0025179	HP:0025179	Ground-glass opacification	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0025179	HP:0025179	Ground-glass opacification	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	747
HP:0025179	HP:0025179	Ground-glass opacification	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0025179	HP:0025179	Ground-glass opacification	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0025179	HP:0025179	Ground-glass opacification	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0025179	HP:0025179	Ground-glass opacification	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040282 - Frequent	1
HP:0025179	HP:0025179	Ground-glass opacification	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0025179	HP:0025179	Ground-glass opacification	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	133
HP:0025179	HP:0025179	Ground-glass opacification	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0025179	HP:0025179	Ground-glass opacification	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	26
HP:0025179	HP:0025179	Ground-glass opacification	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	77
HP:0025179	HP:0025179	Ground-glass opacification	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	19
HP:0025179	HP:0025179	Ground-glass opacification	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0025179	HP:0025179	Ground-glass opacification	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	10
HP:0025179	HP:0025179	Ground-glass opacification	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0025179	HP:0025179	Ground-glass opacification	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	33
HP:0025179	HP:0025179	Ground-glass opacification	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0025179	HP:0025179	Ground-glass opacification	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0025179	HP:0025179	Ground-glass opacification	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	2
HP:0025179	HP:0025179	Ground-glass opacification	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	48
HP:0025179	HP:0025179	Ground-glass opacification	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	238
HP:0025179	HP:0032983	Atoll sign	1	CL E G H
HP:0025179	HP:0032971	Computed tomographic halo sign	1	CL E G H
HP:0025179	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0025179	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0025179	HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40

Genes (23) :ABCA3 ATP11A BMPR2 CSF2RA CSF2RB DPP9 DSP EIF2AK4 FAM13A HLA-DPB1 IFIH1 MUC5B NKX2-1 PARN RTEL1 SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 STN1 TERC TERT

Diseases (14) :ORPHA:2032 OMIM:610921 OMIM:265450 OMIM:300770 OMIM:614370 ORPHA:199241 OMIM:234810 ORPHA:133 OMIM:619773 OMIM:610978 OMIM:619611 OMIM:265120 OMIM:610913 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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