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 middle phalanges of the hand (HP:0010244)

Grandparent Node:
Irregular epiphyses of the phalanges of the hand (HP:0010233)

Parent Node:
Abnormality of the epiphysis of the middle phalanx of the 4th finger (HP:0009247)

Parent Node:
Irregular epiphyses of the 4th finger (HP:0009398)

Parent Node:
Irregular epiphyses of the middle phalanges of the hand (HP:0010262)

..Starting node
..Irregular epiphysis of the middle phalanx of the 4th finger (HP:0009219)

Term ID:

9219

Name:

Irregular epiphysis of the middle phalanx of the 4th finger

Synonym:

Irregular end part of the middle bone of the ring finger

Definition:

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.

Comments:

Reference:

HP:0009219

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular epiphysis of the middle phalanx of the 2nd finger (HP:0009518)

Irregular epiphysis of the middle phalanx of the 3rd finger (HP:0009326)

Irregular epiphysis of the middle phalanx of the 5th finger (HP:0009208)

Irregular epiphysis of the proximal phalanx of the thumb (HP:0009669)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009219	HP:0009219	Irregular epiphysis of the middle phalanx of the 4th 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.