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

Term ID:

25395

Name:

Combined cystic and ground-glass pattern on pulmonary HRCT

Synonym:

Definition:

Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,

Comments:

Reference:

HP:0025395

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025395	HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	749

Genes (1) :COL3A1

Diseases (1) :OMIM:130050

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