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 phalanges of the 2nd finger (HP:0009541)

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

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

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

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

Term ID:

9575

Name:

Triangular shaped middle phalanx of the 2nd finger

Synonym:

Triangular shaped middle bone of index finger

Definition:

Triangular shaped middle 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:0009575

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

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:0009575	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009575	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009575	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009575	HP:0009575	Triangular shaped middle phalanx of the 2nd finger	0	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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