Human Phenotype Ontology

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:
Abnormal fingernail morphology (HP:0001231)

Grandparent Node:
Small nail (HP:0001792)

Parent Node:
Hypoplastic fingernail (HP:0001804)

..Starting node
..Hypoplastic thumbnail (HP:0012553)

Term ID:

12553

Name:

Hypoplastic thumbnail

Synonym:

Small thumbnail; Underdeveloped thumbnail

Definition:

A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.

Comments:

Reference:

HP:0012553

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic fifth fingernail (HP:0008398)

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:0012553	HP:0012553	Hypoplastic thumbnail	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0012553	HP:0012553	Hypoplastic thumbnail	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0012553	HP:0012553	Hypoplastic thumbnail	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS

Genes (2) :KCNH1 PIGF

Diseases (3) :OMIM:611816 ORPHA:420561 OMIM:619356

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