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)

Grandparent Node:
Broad finger (HP:0001500)

Grandparent Node:
Broad phalanx (HP:0006009)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

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

Parent Node:
Broad phalanges of the hand (HP:0009768)

..Starting node
..Broad phalanges of the 3rd finger (HP:0009440)

Term ID:

9440

Name:

Broad phalanges of the 3rd finger

Synonym:

Wide bones of middle finger; Wide/broad middle finger phalanges

Definition:

Increased width of the phalanges of the 3rd finger.

Comments:

Reference:

HP:0009440

Genes and Diseases:

Child Nodes:

........

Broad distal phalanx of the 3rd finger (HP:0009422)

........

Broad middle phalanx of the 3rd finger (HP:0009430)

........

Broad proximal phalanx of the 3rd finger (HP:0009450)

Sister Nodes:

Broad distal phalanx of finger (HP:0009836)

Broad middle phalanx of finger (HP:0009844)

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

Broad phalanges of the 4th finger (HP:0009404)

Broad phalanges of the 5th finger (HP:0009374)

Broad proximal phalanges of the hand (HP:0009852)

Broad thumb (HP:0011304)

Expanded phalanges with widened medullary cavities (HP:0006112)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009440	HP:0009440	Broad phalanges of the 3rd finger	0	CL E G H
HP:0009440	HP:0009422	Broad distal phalanx of the 3rd finger	1	CL E G H
HP:0009440	HP:0009450	Broad proximal phalanx of the 3rd finger	1	CL E G H
HP:0009440	HP:0009430	Broad middle phalanx of the 3rd finger	1	CL E G H

Genes (0) :

Diseases (0) :

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.