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:
Duplication of thumb phalanx (HP:0009942)

Grandparent Node:
Partial duplication of the phalanx of hand (HP:0009999)

Parent Node:
Duplication of the distal phalanx of the thumb (HP:0009612)

Parent Node:
Partial duplication of the distal phalanges of the hand (HP:0010004)

Parent Node:
Partial duplication of thumb phalanx (HP:0009944)

..Starting node
..Bifid distal phalanx of the thumb (HP:0009611)

Term ID:

9611

Name:

Bifid distal phalanx of the thumb

Synonym:

Bifid distal phalanx of thumb; Bifid terminal phalanges of thumbs; Bifid thumb distal phalanx; Incipient distal thumb phalanx duplication; Notched outermost bone of the thumb; Notched outermost bone of thumb; Notched terminal thumb phalanx

Definition:

Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.

Comments:

Reference:

HP:0009611

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid proximal phalanx of the thumb (HP:0009614)

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:0009611	HP:0009611	Bifid distal phalanx of the thumb	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009611	HP:0009611	Bifid distal phalanx of the thumb	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0009611	HP:0009611	Bifid distal phalanx of the thumb	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0009611	HP:0009611	Bifid distal phalanx of the thumb	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare

Genes (4) :CANT1 KIF7 PAH PPP2R3C

Diseases (4) :OMIM:251450 OMIM:200990 ORPHA:2209 OMIM:618419

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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