Human Phenotype Ontology

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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:
Synostosis involving bones of the feet (HP:0009140)

Grandparent Node:
Synostosis involving digits (HP:0100262)

Parent Node:
Abnormality of the phalanges of the 5th toe (HP:0010342)

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

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

..Starting node
..Symphalangism affecting the phalanges of the 5th toe (HP:0010389)

Term ID:

10389

Name:

Symphalangism affecting the phalanges of the 5th toe

Synonym:

Fused bones in the little toe; Fused bones in the pinkie toe; Fused bones in the pinky toe

Definition:

Comments:

Reference:

HP:0010389

Genes and Diseases:

Child Nodes:

........

Symphalangism affecting the middle phalanx of the 5th toe (HP:0100472)

................... HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe
................... HP:0100482 Proximal/middle symphalangism of 5th toe

........

Symphalangism affecting the proximal phalanx of the 5th toe (HP:0100475)

................... HP:0100482 Proximal/middle symphalangism of 5th toe
................... HP:0100486 Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal

Sister Nodes:

Distal foot symphalangism (HP:0001859)

Proximal foot symphalangism (HP:0100237)

Second toe symphalangism (HP:0010353)

Symphalangism affecting the phalanges of the 3rd toe (HP:0010365)

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

Symphalangism affecting the phalanges of the hallux (HP:0010064)

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:0010389	HP:0010389	Symphalangism affecting the phalanges of the 5th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0010389	HP:0100475	Symphalangism affecting the proximal phalanx of the 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0010389	HP:0100472	Symphalangism affecting the middle phalanx of the 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0010389	HP:0100486	Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal	2	CL E G H
HP:0010389	HP:0100478	Symphalangism affecting the distal phalanx of the 5th toe	2	CL E G H
HP:0010389	HP:0100482	Proximal/middle symphalangism of 5th toe	2	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.

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