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 tarsal bone mineral density (HP:0009132)

Grandparent Node:
Sclerosis of foot bone (HP:0100925)

Parent Node:
Abnormal tarsal ossification (HP:0008369)

Parent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Tarsal sclerosis (HP:0031051)

..Starting node
..Tarsal stippling (HP:0008131)

Term ID:

8131

Name:

Tarsal stippling

Synonym:

Punctate calcifications of tarsals; Punctate tarsal calcification

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.

Comments:

Reference:

HP:0008131

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008131	HP:0008131	Tarsal stippling	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51

Genes (1) :EBP

Diseases (1) :OMIM:302960

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