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:
Aplasia/Hypoplasia of metatarsal bones (HP:0001964)

Grandparent Node:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Grandparent Node:
Short long bone (HP:0003026)

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

Parent Node:
Short metatarsal (HP:0010743)

..Starting node
..Short first metatarsal (HP:0010105)

Term ID:

10105

Name:

Short first metatarsal

Synonym:

First metatarsal hypoplasia; First metatarsals hypoplastic; Short 1st long bone of foot

Definition:

Short first metatarsal bone.

Comments:

Reference:

HP:0010105

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short fifth metatarsal (HP:0004704)

Short fourth metatarsal (HP:0004689)

Short second metatarsal (HP:0011845)

Short third metatarsal (HP:0004686)

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:0010105	HP:0010105	Short first metatarsal	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0010105	HP:0010105	Short first metatarsal	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0010105	HP:0010105	Short first metatarsal	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010105	HP:0010105	Short first metatarsal	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3

Genes (3) :EP300 HOXA13 VPS35L

Diseases (4) :OMIM:613684 ORPHA:2438 OMIM:140000 OMIM:619135

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