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 toes (HP:0010160)

Grandparent Node:
Ivory epiphyses (HP:0010583)

Parent Node:
Abnormality of the epiphyses of the 4th toe (HP:0010335)

Parent Node:
Ivory epiphyses of the toes (HP:0010168)

..Starting node
..Ivory epiphyses of the 4th toe (HP:0100072)

Term ID:

100072

Name:

Ivory epiphyses of the 4th toe

Synonym:

Increased bone density of end part of the 4th toe bone

Definition:

Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.

Comments:

Reference:

HP:0100072

Genes and Diseases:

Child Nodes:

........

Ivory epiphysis of the distal phalanx of the 4th toe (HP:0100175)

........

Ivory epiphysis of the middle phalanx of the 4th toe (HP:0100186)

........

Ivory epiphysis of the proximal phalanx of the 4th toe (HP:0100197)

Sister Nodes:

Ivory epiphyses of the 2nd toe (HP:0100050)

Ivory epiphyses of the 3rd toe (HP:0100061)

Ivory epiphyses of the 5th toe (HP:0100083)

Ivory epiphyses of the hallux (HP:0010119)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100072	HP:0100072	Ivory epiphyses of the 4th toe	0	CL E G H
HP:0100072	HP:0100197	Ivory epiphysis of the proximal phalanx of the 4th toe	1	CL E G H
HP:0100072	HP:0100186	Ivory epiphysis of the middle phalanx of the 4th toe	1	CL E G H
HP:0100072	HP:0100175	Ivory epiphysis of the distal phalanx of the 4th toe	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.