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:
Abnormal epiphysis morphology of the phalanges of the hand (HP:0005920)

Grandparent Node:
Pseudoepiphyses of hand bones (HP:0004288)

Parent Node:
Abnormality of the epiphyses of the 2nd finger (HP:0006263)

Parent Node:
Pseudoepiphyses of the phalanges of the hand (HP:0010235)

..Starting node
..Pseudoepiphysis of the 2nd finger (HP:0009495)

Term ID:

9495

Name:

Pseudoepiphysis of the 2nd finger

Synonym:

Accessory index finger epiphysis

Definition:

A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.

Comments:

Reference:

HP:0009495

Genes and Diseases:

Child Nodes:

........

Pseudoepiphysis of the distal phalanx of the 2nd finger (HP:0009509)

........

Pseudoepiphysis of the middle phalanx of the 2nd finger (HP:0009520)

........

Pseudoepiphysis of the proximal phalanx of the 2nd finger (HP:0009531)

Sister Nodes:

Pseudoepiphyses of the 3rd finger (HP:0009417)

Pseudoepiphyses of the 4th finger (HP:0009400)

Pseudoepiphyses of the 5th finger (HP:0009389)

Pseudoepiphyses of the distal phalanges of the hand (HP:0010253)

Pseudoepiphyses of the middle phalanges of the hand (HP:0010264)

Pseudoepiphyses of the proximal phalanges of the hand (HP:0010275)

Pseudoepiphysis of the thumb (HP:0009693)

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:0009495	HP:0009495	Pseudoepiphysis of the 2nd finger	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	90
HP:0009495	HP:0009495	Pseudoepiphysis of the 2nd finger	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	52
HP:0009495	HP:0009495	Pseudoepiphysis of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040281 - Very frequent	52
HP:0009495	HP:0009520	Pseudoepiphysis of the middle phalanx of the 2nd finger	1	CL E G H
HP:0009495	HP:0009509	Pseudoepiphysis of the distal phalanx of the 2nd finger	1	CL E G H
HP:0009495	HP:0009531	Pseudoepiphysis of the proximal phalanx of the 2nd finger	1	CL E G H

Genes (2) :BMPR1B GDF5

Diseases (2) :ORPHA:93384 OMIM:113100

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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