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:
Abnormality of the epiphyses of the middle phalanges of the hand (HP:0010244)

Grandparent Node:
Triangular epiphyses of the phalanges of the hand (HP:0010238)

Parent Node:
Abnormality of the epiphysis of the middle phalanx of the 2nd finger (HP:0009500)

Parent Node:
Triangular epiphyses of the 2nd finger (HP:0009498)

Parent Node:
Triangular epiphyses of the middle phalanges of the hand (HP:0010267)

..Starting node
..Triangular epiphysis of the middle phalanx of the 2nd finger (HP:0009523)

Term ID:

9523

Name:

Triangular epiphysis of the middle phalanx of the 2nd finger

Synonym:

Triangular end part of the middle bone of the index finger

Definition:

Comments:

Reference:

HP:0009523

Genes and Diseases:

Child Nodes:

Sister Nodes:

Triangular epiphysis of the middle phalanx of the 3rd finger (HP:0009331)

Triangular epiphysis of the middle phalanx of the 4th finger (HP:0009224)

Triangular epiphysis of the middle phalanx of the 5th finger (HP:0009213)

Triangular epiphysis of the proximal phalanx of the thumb (HP:0009674)

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:0009523	HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	0	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.