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:
Abnormality of nail color (HP:0100643)

..Starting node
..Leukonychia (HP:0001820)

Term ID:

1820

Name:

Leukonychia

Synonym:

White discoloration of nails

Definition:

White discoloration of the nails.

Comments:

Reference:

HP:0001820

Genes and Diseases:

Child Nodes:

Sister Nodes:

Melanonychia (HP:0100644)

Yellow nails (HP:0011367)

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:0001820	HP:0001820	Leukonychia	0	CAST CL E G H	831	616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	616295	C4225381	OMIM	1	116	1515	114090
HP:0001820	HP:0001820	Leukonychia	0	CAST CL E G H	831	616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	616295	C4225381	OMIM	1	111	1515	114090
HP:0001820	HP:0001820	Leukonychia	0	GJA1 CL E G H	2697	104100	Alopecia congenita keratosis palmoplantaris	104100	C1863093	OMIM	1	191	4274	121014
HP:0001820	HP:0001820	Leukonychia	0	GJA1 CL E G H	2697	104100	Alopecia congenita keratosis palmoplantaris	104100	C1863093	OMIM	1	169	4274	121014
HP:0001820	HP:0001820	Leukonychia	0	GJB2 CL E G H	2706	2698				ORPHA	1	482	4284	121011
HP:0001820	HP:0001820	Leukonychia	0	GJB2 CL E G H	2706	2698				ORPHA	1	460	4284	121011
HP:0001820	HP:0001820	Leukonychia	0	GJB2 CL E G H	2706	149200	Knuckle pads, deafness AND leukonychia syndrome	149200	C0266004	OMIM	1	482	4284	121011
HP:0001820	HP:0001820	Leukonychia	0	GJB2 CL E G H	2706	149200	Knuckle pads, deafness AND leukonychia syndrome	149200	C0266004	OMIM	1	460	4284	121011
HP:0001820	HP:0001820	Leukonychia	0	KIF11 CL E G H	3832	2526				ORPHA	1	498	6388	148760
HP:0001820	HP:0001820	Leukonychia	0	KIF11 CL E G H	3832	2526				ORPHA	1	405	6388	148760
HP:0001820	HP:0001820	Leukonychia	0	PEX1 CL E G H	5189	234580	Deafness enamel hypoplasia nail defects	234580	C1856186	OMIM	1	951	8850	602136
HP:0001820	HP:0001820	Leukonychia	0	PEX1 CL E G H	5189	234580	Deafness enamel hypoplasia nail defects	234580	C1856186	OMIM	1	793	8850	602136
HP:0001820	HP:0001820	Leukonychia	0	PEX6 CL E G H	5190	616617	Heimler syndrome 2	616617	C4225267	OMIM	1	855	8859	601498
HP:0001820	HP:0001820	Leukonychia	0	PEX6 CL E G H	5190	616617	Heimler syndrome 2	616617	C4225267	OMIM	1	645	8859	601498
HP:0001820	HP:0001820	Leukonychia	0	PLCD1 CL E G H	5333	151600	Leukonychia totalis	151600	C0544855	OMIM	1	69	9060	602142
HP:0001820	HP:0001820	Leukonychia	0	PLCD1 CL E G H	5333	151600	Leukonychia totalis	151600	C0544855	OMIM	1	66	9060	602142
HP:0001820	HP:0001820	Leukonychia	0	TRPS1 CL E G H	7227	77258				ORPHA	1	336	12340	604386
HP:0001820	HP:0001820	Leukonychia	0	TRPS1 CL E G H	7227	77258				ORPHA	1	270	12340	604386
HP:0001820	HP:0001820	Leukonychia	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	336	12340	604386
HP:0001820	HP:0001820	Leukonychia	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	270	12340	604386
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001820	HP:0001820	Leukonychia	0	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	0	361	14637	607800
HP:0001820	HP:0001820	Leukonychia	0	ABCA12 CL E G H	26154	601277	Autosomal recessive congenital ichthyosis 4A	601277	C1832550	OMIM	0	336	14637	607800
HP:0001820	HP:0001820	Leukonychia	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	0	2998	3052	125647
HP:0001820	HP:0001820	Leukonychia	0	DSP CL E G H	1832	615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	615821	C4014393	OMIM	0	2652	3052	125647

Genes (10) :ABCA12 CAST DSP GJA1 GJB2 KIF11 PEX1 PEX6 PLCD1 TRPS1

Diseases (12) :601277 616295 615821 104100 2698 149200 2526 234580 616617 151600 77258 190350

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

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