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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	158676				ORPHA	1	2028	2214	120120
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	158676				ORPHA	1	1658	2214	120120
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	79410				ORPHA	1	2028	2214	120120
HP:0001810	HP:0001810	Dystrophic toenail	0	COL7A1 CL E G H	1294	79410				ORPHA	1	1658	2214	120120
HP:0001810	HP:0001810	Dystrophic toenail	0	GJB2 CL E G H	2706	477				ORPHA	1	482	4284	121011
HP:0001810	HP:0001810	Dystrophic toenail	0	GJB2 CL E G H	2706	477				ORPHA	1	460	4284	121011
HP:0001810	HP:0001810	Dystrophic toenail	0	GJB6 CL E G H	10804	477				ORPHA	1	223	4288	604418
HP:0001810	HP:0001810	Dystrophic toenail	0	GJB6 CL E G H	10804	477				ORPHA	1	214	4288	604418
HP:0001810	HP:0001810	Dystrophic toenail	0	KIF1A CL E G H	547	970				ORPHA	1	1735	888	601255
HP:0001810	HP:0001810	Dystrophic toenail	0	KIF1A CL E G H	547	970				ORPHA	1	1441	888	601255
HP:0001810	HP:0001810	Dystrophic toenail	0	KLHL24 CL E G H	54800	617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss	617294	C4310631	OMIM	1	74	25947	611295
HP:0001810	HP:0001810	Dystrophic toenail	0	KLHL24 CL E G H	54800	617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss	617294	C4310631	OMIM	1	73	25947	611295
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT14 CL E G H	3861	69087				ORPHA	1	155	6416	148066
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT14 CL E G H	3861	69087				ORPHA	1	148	6416	148066
HP:0001810	HP:0001810	Dystrophic toenail	0	KRT74 CL E G H	121391	614929	Ectodermal dysplasia 7, hair/nail type	614929	C3554117	OMIM	1	85	28929	608248
HP:0001810	HP:0001810	Dystrophic toenail	0	NECTIN1 CL E G H	5818	3253	Limb dystonia			ORPHA	1	207	9706	600644
HP:0001810	HP:0001810	Dystrophic toenail	0	NECTIN1 CL E G H	5818	3253	Limb dystonia			ORPHA	1	199	9706	600644
HP:0001810	HP:0001810	Dystrophic toenail	0	NOTCH1 CL E G H	4851	616028	Adams-Oliver syndrome 5	616028	C4014970	OMIM	1	2158	7881	190198
HP:0001810	HP:0001810	Dystrophic toenail	0	NOTCH1 CL E G H	4851	616028	Adams-Oliver syndrome 5	616028	C4014970	OMIM	1	1933	7881	190198
HP:0001810	HP:0001810	Dystrophic toenail	0	RAB7A CL E G H	7879	600882	Charcot-Marie-Tooth disease, axonal, type 2b	600882	C1833219	OMIM	1	165	9788	602298
HP:0001810	HP:0001810	Dystrophic toenail	0	RAB7A CL E G H	7879	600882	Charcot-Marie-Tooth disease, axonal, type 2b	600882	C1833219	OMIM	1	155	9788	602298
HP:0001810	HP:0001810	Dystrophic toenail	0	RETREG1 CL E G H	54463	970				ORPHA	1	416	25964	613114
HP:0001810	HP:0001810	Dystrophic toenail	0	RETREG1 CL E G H	54463	970				ORPHA	1	368	25964	613114
HP:0001810	HP:0001810	Dystrophic toenail	0	SCN9A CL E G H	6335	970				ORPHA	1	1708	10597	603415
HP:0001810	HP:0001810	Dystrophic toenail	0	SCN9A CL E G H	6335	970				ORPHA	1	1438	10597	603415
HP:0001810	HP:0001810	Dystrophic toenail	0	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	501	11109	603111
HP:0001810	HP:0001810	Dystrophic toenail	0	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	418	11109	603111
HP:0001810	HP:0001810	Dystrophic toenail	0	TP63 CL E G H	8626	1071				ORPHA	1	444	15979	603273
HP:0001810	HP:0001810	Dystrophic toenail	0	TP63 CL E G H	8626	1071				ORPHA	1	376	15979	603273
HP:0001810	HP:0001810	Dystrophic toenail	0	WNK1 CL E G H	65125	970				ORPHA	1	1258	14540	605232
HP:0001810	HP:0001810	Dystrophic toenail	0	WNK1 CL E G H	65125	970				ORPHA	1	1096	14540	605232
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001810	HP:0001810	Dystrophic toenail	0	IKBKG CL E G H	8517	464	Achromatopsia incomplete X-linked		CN036572	ORPHA	0	337	5961	300248
HP:0001810	HP:0001810	Dystrophic toenail	0	IKBKG CL E G H	8517	464	Achromatopsia incomplete X-linked		CN036572	ORPHA	0	326	5961	300248
HP:0001810	HP:0001810	Dystrophic toenail	0	RUNX2 CL E G H	860	1452				ORPHA	0	333	10472	600211
HP:0001810	HP:0001810	Dystrophic toenail	0	RUNX2 CL E G H	860	1452				ORPHA	0	265	10472	600211
HP:0001810	HP:0001810	Dystrophic toenail	0	WNT10A CL E G H	80326	257980	Odontoonychodermal dysplasia	257980	C0796093	OMIM	0	291	13829	606268
HP:0001810	HP:0001810	Dystrophic toenail	0	WNT10A CL E G H	80326	257980	Odontoonychodermal dysplasia	257980	C0796093	OMIM	0	309	13829	606268

Genes (18) :COL7A1 GJB2 GJB6 IKBKG KIF1A KLHL24 KRT14 KRT74 NECTIN1 NOTCH1 RAB7A RETREG1 RUNX2 SCN9A SMARCE1 TP63 WNK1 WNT10A

Diseases (15) :79410 158676 477 464 970 617294 69087 614929 3253 616028 600882 1452 616938 1071 257980

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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