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:
Atypical scarring of skin (HP:0000987)

Grandparent Node:
Dermal atrophy (HP:0004334)

Parent Node:
Atrophic scars (HP:0001075)

..Starting node
..Cigarette-paper scars (HP:0001073)

Term ID:

1073

Name:

Cigarette-paper scars

Synonym:

Cigarette paper scarring; Cigarette-paper scars

Definition:

Thin (atrophic) and wide scars.

Comments:

Reference:

HP:0001073

Genes and Diseases:

Child Nodes:

Sister Nodes:

Widened atrophic scar (HP:0031158)

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:0001073	HP:0001073	Cigarette-paper scars	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0001073	HP:0001073	Cigarette-paper scars	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0001073	HP:0001073	Cigarette-paper scars	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional	50
HP:0001073	HP:0001073	Cigarette-paper scars	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24

Genes (10) :COL12A1 COL1A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 CTSC SLC39A13

Diseases (8) :ORPHA:610 ORPHA:287 OMIM:130050 ORPHA:286 OMIM:130000 OMIM:130010 ORPHA:678 OMIM:612350

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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