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 fingernail morphology (HP:0001231)

Parent Node:
Thin nail (HP:0001816)

..Starting node
..Thin fingernail (HP:0012742)

Term ID:

12742

Name:

Thin fingernail

Synonym:

Thin fingernail

Definition:

Fingernail that appears thin when viewed on end.

Comments:

Reference:

HP:0012742

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thin toenail (HP:0012746)

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:0012742	HP:0012742	Thin fingernail	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent	22

Genes (1) :MBTPS2

Diseases (1) :ORPHA:2273

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