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:
Abnormal tarsal ossification (HP:0008369)

Parent Node:
Abnormality of the calcaneus (HP:0008364)

Parent Node:
Delayed tarsal ossification (HP:0008103)

..Starting node
..Delayed calcaneal ossification (HP:0008142)

Term ID:

8142

Name:

Delayed calcaneal ossification

Synonym:

Delayed heel bone maturation

Definition:

Delayed maturation and calcification of the calcaneus.

Comments:

Reference:

HP:0008142

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:0008142	HP:0008142	Delayed calcaneal ossification	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284

Genes (1) :COL2A1

Diseases (1) :OMIM:183900

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