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 skin adnexa morphology (HP:0011138)

Parent Node:
Abnormality of the nail (HP:0001597)

..Starting node
..Recurrent loss of toenails and fingernails (HP:0008390)

Term ID:

8390

Name:

Recurrent loss of toenails and fingernails

Synonym:

Recurrent loss of toenails and fingernails; Recurrent shedding of toenails and fingernails

Definition:

Repeated loss, or shedding, of the nails of the fingers and toes.

Comments:

Reference:

HP:0008390

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal fingernail morphology (HP:0001231)

Abnormal nail growth (HP:0030807)

Abnormal toenail morphology (HP:0008388)

Abnormality of nail color (HP:0100643)

Abnormality of the periungual region (HP:0100803)

Abnormality of the subungual region (HP:0009723)

Absent lunula (HP:0030805)

Aplasia/Hypoplasia of the nails (HP:0008386)

Beaked nails (HP:0030817)

Chronic monilial nail infection (HP:0008396)

Fragile nails (HP:0001808)

Ingrown nail (HP:0012710)

Nail bed hemorrhage (HP:0030254)

Nail bed telangiectasia (HP:0001232)

Nail dysplasia (HP:0002164)

Nail dystrophy (HP:0008404)

Neoplasm of the nail (HP:0100826)

Onychogryposis (HP:0001805)

Onycholysis (HP:0001806)

Pterygium of nails (HP:0002165)

Pyramidal skinfold extending from the base to the top of the nails (HP:0009758)

Ragged cuticle (HP:0030808)

Ski jump nail (HP:0030819)

Thin nail (HP:0001816)

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:0008390	HP:0008390	Recurrent loss of toenails and fingernails	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0008390	HP:0008390	Recurrent loss of toenails and fingernails	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040283 - Occasional	263
HP:0008390	HP:0008390	Recurrent loss of toenails and fingernails	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116

Genes (2) :COL7A1 LAMA3

Diseases (3) :ORPHA:231568 ORPHA:158673 OMIM:245660

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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