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:
Enlarged epiphyses (HP:0010580)

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

Parent Node:
Enlarged epiphyses of the phalanges of the hand (HP:0010231)

..Starting node
..Enlarged epiphyses of the 2nd finger (HP:0009491)

Term ID:

9491

Name:

Enlarged epiphyses of the 2nd finger

Synonym:

Enlarged end part of the index finger

Definition:

Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.

Comments:

Reference:

HP:0009491

Genes and Diseases:

Child Nodes:

........

Enlarged epiphysis of the distal phalanx of the 2nd finger (HP:0009505)

........

Enlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516)

........

Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527)

Sister Nodes:

Enlarged epiphyses of the 3rd finger (HP:0009413)

Enlarged epiphyses of the 4th finger (HP:0009396)

Enlarged epiphyses of the 5th finger (HP:0009385)

Enlarged epiphyses of the distal phalanges of the hand (HP:0010249)

Enlarged epiphyses of the middle phalanges of the hand (HP:0010260)

Enlarged epiphyses of the proximal phalanges of the hand (HP:0010271)

Enlarged thumb epiphysis (HP:0009689)

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:0009491	HP:0009491	Enlarged epiphyses of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009491	HP:0009505	Enlarged epiphysis of the distal phalanx of the 2nd finger	1	CL E G H
HP:0009491	HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0009491	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52

Genes (1) :GDF5

Diseases (1) :OMIM:113100

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