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:
Anonychia (HP:0001798)

Grandparent Node:
Aplastic/hypoplastic toenail (HP:0010624)

Parent Node:
Absent toenail (HP:0001802)

..Starting node
..Absent nail of hallux (HP:0012555)

Term ID:

12555

Name:

Absent nail of hallux

Synonym:

Absent big toe nail; Absent nail of big toe

Definition:

Absent nail of big toe.

Comments:

Reference:

HP:0012555

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent fifth toenail (HP:0200105)

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:0012555	HP:0012555	Absent nail of hallux	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0012555	HP:0012555	Absent nail of hallux	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13

Genes (1) :KCNH1

Diseases (2) :ORPHA:420561 OMIM:611816

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