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

Human Phenotype Ontology

Grandparent Node:
Abnormal finger phalanx morphology (HP:0005918)

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Parent Node:
Abnormal distal phalanx morphology of finger (HP:0009832)

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

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

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Term ID:

9875

Name:

Triangular shaped distal phalanges of the hand

Synonym:

Triangular shaped outermost bone of the hand

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Triangular shaped distal phalanx of the 5th finger (HP:0009245)

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................... HP:0009379 Rhomboid or triangular shaped 5th finger distal phalanx

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Triangular shaped distal phalanx of the 4th finger (HP:0009306)

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

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Triangular shaped distal phalanx of the 2nd finger (HP:0009564)

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Triangular shaped distal phalanx of the thumb (HP:0009648)

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Sister Nodes:

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

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Abnormality of thumb phalanx (HP:0009602)

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

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

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

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

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

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009875	HP:0009875	Triangular shaped distal phalanges of the hand	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.			45
HP:0009875	HP:0009875	Triangular shaped distal phalanges of the hand	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome				13
HP:0009875	HP:0009427	Triangular shaped distal phalanx of the 3rd finger	1	CL E G H
HP:0009875	HP:0009306	Triangular shaped distal phalanx of the 4th finger	1	CL E G H
HP:0009875	HP:0009245	Triangular shaped distal phalanx of the 5th finger	1	CL E G H
HP:0009875	HP:0009564	Triangular shaped distal phalanx of the 2nd finger	1	CL E G H
HP:0009875	HP:0009648	Triangular shaped distal phalanx of the thumb	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional			13
HP:0009875	HP:0009379	Rhomboid or triangular shaped 5th finger distal phalanx	2	CL E G H

Genes (2) :DDR2 KCNH1

Diseases (2) :OMIM:271665 ORPHA:420561

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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