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 finger phalanx morphology (HP:0005918)

Parent Node:
Abnormal 3rd finger phalanx morphology (HP:0009316)

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

..Starting node
..Triangular shaped phalanges of the 3rd finger (HP:0009446)

Term ID:

9446

Name:

Triangular shaped phalanges of the 3rd finger

Synonym:

Triangular shaped bone of the middle finger

Definition:

Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

Comments:

Reference:

HP:0009446

Genes and Diseases:

Child Nodes:

........

Triangular shaped distal phalanx of the 3rd finger (HP:0009427)

........

Triangular shaped middle phalanx of the 3rd finger (HP:0009436)

........

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

Sister Nodes:

Abnormality of the phalanges of the 2nd finger (HP:0009541)

Abnormality of thumb phalanx (HP:0009602)

Triangular shaped distal phalanges of the hand (HP:0009875)

Triangular shaped middle phalanges of the hand (HP:0009850)

Triangular shaped phalanges of the 4th finger (HP:0009407)

Triangular shaped phalanges of the 5th finger (HP:0009378)

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

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:0009446	HP:0009446	Triangular shaped phalanges of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009446	HP:0009427	Triangular shaped distal phalanx of the 3rd finger	1	CL E G H
HP:0009446	HP:0009456	Triangular shaped proximal phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0009446	HP:0009436	Triangular shaped middle phalanx of the 3rd 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.

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