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

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

Parent Node:
Absent epiphyses of the 2nd finger (HP:0009488)

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

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

Term ID:

9502

Name:

Absent epiphysis of the distal phalanx of the 2nd finger

Synonym:

Absent end part of the outermost bone of the index finger; Absent ossification/absent epiphysis of terminal index finger phalanx

Definition:

Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.

Comments:

Reference:

HP:0009502

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent epiphysis of the distal phalanx of the 3rd finger (HP:0009335)

Absent epiphysis of the distal phalanx of the 4th finger (HP:0009250)

Absent epiphysis of the distal phalanx of the 5th finger (HP:0003696)

Absent epiphysis of the distal phalanx of the thumb (HP:0009675)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009502	HP:0009502	Absent 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.