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
..Crazy paving pattern (HP:0025391)

Term ID:

25391

Name:

Crazy paving pattern

Synonym:

Crazy paving pattern on pulmonary HRCT; Crazy-paving pattern

Definition:

The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.

Comments:

Reference:

HP:0025391

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025391	HP:0025391	Crazy paving pattern	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0025391	HP:0025391	Crazy paving pattern	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	15
HP:0025391	HP:0025391	Crazy paving pattern	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	17
HP:0025391	HP:0025391	Crazy paving pattern	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040283 - Occasional	2

Genes (4) :ABCA3 CSF2RA CSF2RB HLA-DRB1

Diseases (3) :OMIM:610921 ORPHA:264675 ORPHA:747

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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