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 foot bone ossification (HP:0010675)

Grandparent Node:
Abnormal metatarsal morphology (HP:0001832)

Parent Node:
Abnormal metatarsal ossification (HP:0008371)

..Starting node
..Nonossified fifth metatarsal (HP:0008087)

Term ID:

8087

Name:

Nonossified fifth metatarsal

Synonym:

Definition:

The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.

Comments:

Reference:

HP:0008087

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:0008087	HP:0008087	Nonossified fifth metatarsal	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493

Genes (1) :FLNA

Diseases (1) :OMIM:304120

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