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:
Abnormality of the nail (HP:0001597)

Parent Node:
Abnormal toenail morphology (HP:0008388)

Parent Node:
Nail dystrophy (HP:0008404)

..Starting node
..Dystrophic toenail (HP:0001810)

Term ID:

1810

Name:

Dystrophic toenail

Synonym:

Dystrophic toenail changes; Dystrophic toenails; Poor toenail formation

Definition:

Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.

Comments:

Reference:

HP:0001810

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central nail canal (HP:0030818)

Dystrophic fingernails (HP:0008391)

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:0001810	HP:0001810	Dystrophic toenail	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	2214	ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only	HP:0040282 - Frequent	263
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	2214	OMIM:607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8		263
HP:0001810	HP:0001810	Dystrophic toenail	0	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0001810	HP:0001810	Dystrophic toenail	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0001810	HP:0001810	Dystrophic toenail	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0001810	HP:0001810	Dystrophic toenail	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0001810	HP:0001810	Dystrophic toenail	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome	HP:0040281 - Very frequent	110
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.	5
HP:0001810	HP:0001810	Dystrophic toenail	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0001810	HP:0001810	Dystrophic toenail	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0001810	HP:0001810	Dystrophic toenail	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0001810	HP:0001810	Dystrophic toenail	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0001810	HP:0001810	Dystrophic toenail	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001810	HP:0001810	Dystrophic toenail	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0001810	HP:0001810	Dystrophic toenail	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0001810	HP:0001810	Dystrophic toenail	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0001810	HP:0001810	Dystrophic toenail	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0001810	HP:0001810	Dystrophic toenail	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0001810	HP:0001810	Dystrophic toenail	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0001810	HP:0001810	Dystrophic toenail	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0001810	HP:0001810	Dystrophic toenail	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (22) :COL17A1 COL7A1 DST IKBKG ITGB4 KIF1A KLHL24 KRT14 KRT5 KRT74 LMNA NECTIN1 NOTCH1 PERP RAB7A RETREG1 RUNX2 SCN9A SMARCE1 WNK1 WNT10A ZMPSTE24

Diseases (22) :ORPHA:251393 ORPHA:231568 ORPHA:158673 ORPHA:158676 OMIM:607523 OMIM:615425 ORPHA:464 ORPHA:970 OMIM:617294 ORPHA:89838 ORPHA:69087 OMIM:619594 OMIM:614929 ORPHA:740 ORPHA:3253 OMIM:616028 OMIM:619209 OMIM:600882 ORPHA:1452 OMIM:616938 OMIM:257980 OMIM:150400

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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