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:
Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)

Grandparent Node:
Short finger (HP:0009381)

Grandparent Node:
Short phalanx of finger (HP:0009803)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557)

Parent Node:
Short 2nd finger (HP:0009536)

Parent Node:
Short distal phalanx of finger (HP:0009882)

..Starting node
..Short distal phalanx of the 2nd finger (HP:0009566)

Term ID:

9566

Name:

Short distal phalanx of the 2nd finger

Synonym:

Hypoplastic terminal index finger phalanx; Hypoplastic/small distal phalanx of the 2nd finger; Short distal phalanx of the second finger; Short outermost bone of the index finger; Short terminal index finger phalanx

Definition:

Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.

Comments:

Reference:

HP:0009566

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the 3rd finger (HP:0004180)

Short distal phalanx of the 4th finger (HP:0009290)

Short distal phalanx of the 5th finger (HP:0004227)

Short distal phalanx of the thumb (HP:0009650)

Shortening of all distal phalanges of the fingers (HP:0006118)

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:0009566	HP:0009566	Short distal phalanx of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0009566	HP:0009566	Short distal phalanx of the 2nd finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284

Genes (2) :BMPR1B COL2A1

Diseases (2) :OMIM:616849 OMIM:271700

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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