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 epiphysis morphology of the phalanges of the hand (HP:0005920)

Grandparent Node:
Absent epiphyses (HP:0010577)

Parent Node:
Abnormality of the epiphyses of the 2nd finger (HP:0006263)

Parent Node:
Absent epiphyses of the phalanges of the hand (HP:0010228)

..Starting node
..Absent epiphyses of the 2nd finger (HP:0009488)

Term ID:

9488

Name:

Absent epiphyses of the 2nd finger

Synonym:

Absent end part of index finger

Definition:

Absence of the epiphyses of the 2nd finger.

Comments:

Reference:

HP:0009488

Genes and Diseases:

Child Nodes:

........

Absent epiphysis of the distal phalanx of the 2nd finger (HP:0009502)

........

Absent epiphysis of the middle phalanx of the 2nd finger (HP:0009513)

........

Absent epiphysis of the proximal phalanx of the 2nd finger (HP:0009524)

Sister Nodes:

Absent epiphyses of the 3rd finger (HP:0009410)

Absent epiphyses of the 4th finger (HP:0009393)

Absent epiphyses of the 5th finger (HP:0009382)

Absent epiphyses of the distal phalanges of the hand (HP:0010246)

Absent epiphyses of the middle phalanges of the hand (HP:0010257)

Absent epiphyses of the proximal phalanges of the hand (HP:0010268)

Absent epiphyses of the thumb (HP:0009686)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009488	HP:0009488	Absent epiphyses of the 2nd finger	0	CL E G H
HP:0009488	HP:0009524	Absent epiphysis of the proximal phalanx of the 2nd finger	1	CL E G H
HP:0009488	HP:0009513	Absent epiphysis of the middle phalanx of the 2nd finger	1	CL E G H
HP:0009488	HP:0009502	Absent epiphysis of the distal phalanx of the 2nd 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.