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:
Abnormality of the calcaneus (HP:0008364)

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

..Starting node
..Hypoplasia of the calcaneus (HP:0012789)

Term ID:

12789

Name:

Hypoplasia of the calcaneus

Synonym:

Hypoplastic calcaneus; Small heel bone; Underdeveloped heel bone

Definition:

Underdevelopment of the heel bone.

Comments:

Reference:

HP:0012789

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the tarsal bones (HP:0010509)

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:0012789	HP:0012789	Hypoplasia of the calcaneus	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0012789	HP:0012789	Hypoplasia of the calcaneus	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70

Genes (2) :HDAC6 LBR

Diseases (2) :OMIM:300863 OMIM:215140

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