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:
Flexion contracture (HP:0001371)

Parent Node:
Congenital contracture (HP:0002803)

..Starting node
..Congenital foot contraction deformities (HP:0005853)

Term ID:

5853

Name:

Congenital foot contraction deformities

Synonym:

Definition:

Comments:

Reference:

HP:0005853

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arthrogryposis multiplex congenita (HP:0002804)

Congenital finger flexion contractures (HP:0005879)

Congenital foot contractures (HP:0005745)

Distal arthrogryposis (HP:0005684)

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:0005853	HP:0005853	Congenital foot contraction deformities	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent	46

Genes (1) :BICD2

Diseases (1) :ORPHA:363454

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