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 2nd finger morphology (HP:0004100)

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

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

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..Starting node
..Triangular shaped phalanges of the 2nd finger (HP:0009546)

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Term ID:

9546

Name:

Triangular shaped phalanges of the 2nd finger

Synonym:

Triangular bones of index finger; Triangular index finger phalanges

Definition:

Triangular shaped phalanges 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:

Genes and Diseases:

Child Nodes:

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

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Triangular shaped middle phalanx of the 2nd finger (HP:0009575)

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

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Sister Nodes:

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Abnormality of the distal phalanx of the 2nd finger (HP:0009542)

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Abnormality of the middle phalanx of the 2nd finger (HP:0009543)

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

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Aplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552)

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Broad phalanges of the 2nd finger (HP:0009547)

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Curved phalanges of the 2nd finger (HP:0009549)

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Duplication of phalanx of 2nd finger (HP:0009945)

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Osteolytic defects of the phalanges of the 2nd finger (HP:0009550)

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Sclerosis of 2nd finger phalanx (HP:0100918)

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Symphalangism of the 2nd finger (HP:0009545)

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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:0009546	HP:0009546	Triangular shaped phalanges of the 2nd finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2				13
HP:0009546	HP:0009546	Triangular shaped phalanges of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2				90
HP:0009546	HP:0009546	Triangular shaped phalanges of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2				52
HP:0009546	HP:0009546	Triangular shaped phalanges of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C				52
HP:0009546	HP:0009564	Triangular shaped distal phalanx of the 2nd finger	1	CL E G H
HP:0009546	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2				13
HP:0009546	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2				90
HP:0009546	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2				52
HP:0009546	HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent			52
HP:0009546	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent			52

Genes (3) :BMP2 BMPR1B GDF5

Diseases (2) :OMIM:112600 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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