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 phalanges of the 4th toe (HP:0010336)

Grandparent Node:
Symphalangism affecting the phalanges of the toes (HP:0010179)

Grandparent Node:
Synostosis involving bones of the toes (HP:0100235)

Parent Node:
Symphalangism affecting the phalanges of the 4th toe (HP:0010377)

..Starting node
..Symphalangism affecting the middle phalanx of the 4th toe (HP:0100471)

Term ID:

100471

Name:

Symphalangism affecting the middle phalanx of the 4th toe

Synonym:

Fused middle bones of 4th toe

Definition:

Comments:

Reference:

HP:0100471

Genes and Diseases:

Child Nodes:

........

Symphalangism affecting the distal phalanx of the 4th toe (HP:0100477)

........

Proximal/middle symphalangism of 4th toe (HP:0100481)

Sister Nodes:

Symphalangism affecting the proximal phalanx of the 4th toe (HP:0100474)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100471	HP:0100471	Symphalangism affecting the middle phalanx of the 4th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0100471	HP:0100477	Symphalangism affecting the distal phalanx of the 4th toe	1	CL E G H
HP:0100471	HP:0100481	Proximal/middle symphalangism of 4th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22

Genes (1) :NOG

Diseases (1) :OMIM:186500

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