Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

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

..Starting node
..Absent metatarsal bone (HP:0010744)

Term ID:

10744

Name:

Absent metatarsal bone

Synonym:

Absent long bone of foot; Aplasia of the metatarsal bones

Definition:

A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.

Comments:

Reference:

HP:0010744

Genes and Diseases:

Child Nodes:

........

Absent fifth metatarsal (HP:0008079)

........

Absent first metatarsal (HP:0010104)

Sister Nodes:

Aplasia/Hypoplasia of the fifth metatarsal bone (HP:0040033)

Short metatarsal (HP:0010743)

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:0010744	HP:0010744	Absent metatarsal bone	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0010744	HP:0010744	Absent metatarsal bone	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0010744	HP:0010744	Absent metatarsal bone	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0010744	HP:0008079	Absent fifth metatarsal	1	CL E G H
HP:0010744	HP:0010104	Absent first metatarsal	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0010744	HP:0010104	Absent first metatarsal	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (3) :FGFR2 LMBR1 TWIST1

Diseases (2) :OMIM:101400 OMIM:200500

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