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 metatarsal morphology (HP:0001832)

Parent Node:
Abnormality of the first metatarsal bone (HP:0010054)

Parent Node:
Broad metatarsal (HP:0001783)

..Starting node
..Broad first metatarsal (HP:0010068)

Term ID:

10068

Name:

Broad first metatarsal

Synonym:

Broad 1st metatarsal; Enlarged first metatarsal; Wide 1st long bone of foot

Definition:

Increased side-to-side width of the first metatarsal bone.

Comments:

Reference:

HP:0010068

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:0010068	HP:0010068	Broad first metatarsal	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0010068	HP:0010068	Broad first metatarsal	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0010068	HP:0010068	Broad first metatarsal	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0010068	HP:0010068	Broad first metatarsal	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS

Genes (4) :ABCC9 CANT1 NEK1 TTC26

Diseases (4) :OMIM:239850 OMIM:251450 ORPHA:2751 OMIM:619534

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