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 skin adnexa morphology (HP:0011138)

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

..Starting node
..Chronic monilial nail infection (HP:0008396)

Term ID:

8396

Name:

Chronic monilial nail infection

Synonym:

Definition:

Chronic infection of the nails by Candida species.

Comments:

Reference:

HP:0008396

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)

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)

Recurrent loss of toenails and fingernails (HP:0008390)

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:0008396	HP:0008396	Chronic monilial nail infection	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0008396	HP:0008396	Chronic monilial nail infection	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0008396	HP:0008396	Chronic monilial nail infection	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1

Genes (3) :ADAM17 EGFR SREBF1

Diseases (2) :ORPHA:294023 OMIM:158310

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.