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:
Abnormality of the nail (HP:0001597)

Parent Node:
Nail dysplasia (HP:0002164)

..Starting node
..Broad nail (HP:0001821)

Term ID:

1821

Name:

Broad nail

Synonym:

Broad fingernails; Broad nail; Wide fingernails

Definition:

Increased width of nail.

Comments:

Reference:

HP:0001821

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid nail (HP:0010793)

Concave nail (HP:0001598)

Congenital onychodystrophy (HP:0008394)

Deep-set nails (HP:0001814)

Fingernail dysplasia (HP:0100798)

Fused nails (HP:0011312)

Hyperconvex nail (HP:0001795)

Nail pits (HP:0001803)

Narrow nail (HP:0011313)

Platonychia (HP:0030803)

Ridged nail (HP:0001807)

Split nail (HP:0001809)

Toenail dysplasia (HP:0100797)

Trachyonychia (HP:0030804)

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:0001821	HP:0001821	Broad nail	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	3
HP:0001821	HP:0001821	Broad nail	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001821	HP:0001821	Broad nail	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0001821	HP:0001821	Broad nail	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.	11
HP:0001821	HP:0001821	Broad nail	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0001821	HP:0001821	Broad nail	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent	44
HP:0001821	HP:0001821	Broad nail	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0001821	HP:0001821	Broad nail	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	14
HP:0001821	HP:0001821	Broad nail	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	196
HP:0001821	HP:0001821	Broad nail	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4
HP:0001821	HP:0001821	Broad nail	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent	4

Genes (10) :CLEC7A FHL1 HPGD IFT43 IHH IKBKG IL17F IL17RA IL17RC TRAF3IP2

Diseases (7) :ORPHA:1334 OMIM:300280 ORPHA:217059 OMIM:614099 OMIM:607778 ORPHA:63446 ORPHA:464

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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