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 tarsal bones (HP:0001850)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

Parent Node:
Aplasia/Hypoplasia of the tarsal bones (HP:0008363)

..Starting node
..Aplasia of the tarsal bones (HP:0010509)

Term ID:

10509

Name:

Aplasia of the tarsal bones

Synonym:

Absent ankle bone; Absent tarsals

Definition:

Absence of the tarsal bones.

Comments:

Reference:

HP:0010509

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the calcaneus (HP:0012789)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010509	HP:0010509	Aplasia of the tarsal bones	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP	106

Genes (1) :LMBR1

Diseases (1) :OMIM:200500

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