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)

Parent Node:
Abnormal talus morphology (HP:0008365)

..Starting node
..Shortening of the talar neck (HP:0008117)

Term ID:

8117

Name:

Shortening of the talar neck

Synonym:

Definition:

Comments:

Reference:

HP:0008117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed talus ossification (HP:0011836)

Osteolysis of talus (HP:0008095)

Rocker bottom foot (HP:0001838)

Tarsal osteovalgus (HP:0001775)

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:0008117	HP:0008117	Shortening of the talar neck	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0008117	HP:0008117	Shortening of the talar neck	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217

Genes (1) :PHEX

Diseases (2) :OMIM:307800 ORPHA:89936

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