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 proximal phalanx morphology of the hand (HP:0009834)

Grandparent Node:
Triangular shaped phalanges of the hand (HP:0009774)

Parent Node:
Abnormality of the proximal phalanx of the 2nd finger (HP:0009544)

Parent Node:
Triangular shaped phalanges of the 2nd finger (HP:0009546)

Parent Node:
Triangular shaped proximal phalanges of the hand (HP:0009858)

..Starting node
..Triangular shaped proximal phalanx of the 2nd finger (HP:0009587)

Term ID:

9587

Name:

Triangular shaped proximal phalanx of the 2nd finger

Synonym:

Triangular proximal index finger phalanx; Triangular shaped innermost bone of index finger

Definition:

Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

Comments:

Reference:

HP:0009587

Genes and Diseases:

Child Nodes:

Sister Nodes:

Triangular shaped proximal phalanx of the 3rd finger (HP:0009456)

Triangular shaped proximal phalanx of the 4th finger (HP:0009315)

Triangular shaped proximal phalanx of the 5th finger (HP:0009233)

Triangular shaped proximal phalanx of the thumb (HP:0009636)

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:0009587	HP:0009587	Triangular shaped proximal 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.

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