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 epiphyses of the distal phalanx of finger (HP:0010243)

Grandparent Node:
Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)

Parent Node:
Abnormality of the epiphysis of the distal phalanx of the 2nd finger (HP:0009499)

Parent Node:
Cone-shaped epiphyses of the 2nd finger (HP:0009490)

Parent Node:
Cone-shaped epiphyses of the distal phalanges of the hand (HP:0010248)

..Starting node
..Cone-shaped epiphysis of the distal phalanx of the 2nd finger (HP:0009504)

Term ID:

9504

Name:

Cone-shaped epiphysis of the distal phalanx of the 2nd finger

Synonym:

Cone-shaped end part of the outermost bone of the index finger

Definition:

A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.

Comments:

Reference:

HP:0009504

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cone-shaped epiphysis of the distal phalanx of the 3rd finger (HP:0009337)

Cone-shaped epiphysis of the distal phalanx of the 4th finger (HP:0009252)

Cone-shaped epiphysis of the distal phalanx of the 5th finger (HP:0004222)

Cone-shaped epiphysis of the distal phalanx of the thumb (HP:0009677)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009504	HP:0009504	Cone-shaped epiphysis of the distal phalanx of the 2nd finger	0	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.

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