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:
Abnormal hallux phalanx morphology (HP:0010057)

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 hallux (HP:0010064)

Term ID:

10064

Name:

Symphalangism affecting the phalanges of the hallux

Synonym:

Fused big toe bones; hallucal symphalangism

Definition:

Comments:

Reference:

HP:0010064

Genes and Diseases:

Child Nodes:

........

Symphalangism affecting the proximal phalanx of the hallux (HP:0010091)

................... HP:0010082 Symphalangism affecting the distal phalanx of the hallux
................... HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st 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 5th toe (HP:0010389)

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:0010064	HP:0010064	Symphalangism affecting the phalanges of the hallux	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	.	4
HP:0010064	HP:0010091	Symphalangism affecting the proximal phalanx of the hallux	1	CL E G H
HP:0010064	HP:0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	2	CL E G H
HP:0010064	HP:0010082	Symphalangism affecting the distal phalanx of the hallux	2	CL E G H

Genes (1) :BHLHA9

Diseases (1) :OMIM:609432

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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