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 first metatarsal bone (HP:0010054)

Parent Node:
Absent metatarsal bone (HP:0010744)

Parent Node:
Aplasia/hypoplasia of the 1st metatarsal (HP:0010067)

..Starting node
..Absent first metatarsal (HP:0010104)

Term ID:

10104

Name:

Absent first metatarsal

Synonym:

Absent 1st long bone of foot; Absent 1st metatarsal; Aplasia of the 1st metatarsal

Definition:

A developmental defect characterized by the absence of the first metatarsal bone.

Comments:

Reference:

HP:0010104

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:0010104	HP:0010104	Absent first metatarsal	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0010104	HP:0010104	Absent first metatarsal	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (2) :FGFR2 TWIST1

Diseases (1) :OMIM:101400

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