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 distal phalanx morphology of finger (HP:0009832)

Grandparent Node:
Sclerosis of finger phalanx (HP:0100899)

Parent Node:
Abnormality of the epiphyses of the distal phalanx of finger (HP:0010243)

Parent Node:
Ivory epiphyses of the phalanges of the hand (HP:0010234)

Parent Node:
Sclerosis of distal finger phalanx (HP:0100915)

..Starting node
..Ivory epiphyses of the distal phalanges of the hand (HP:0010252)

Term ID:

10252

Name:

Ivory epiphyses of the distal phalanges of the hand

Synonym:

Eburnated epiphyses of distal phalanges; Increased bone density of end part of the outermost hand bones

Definition:

Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.

Comments:

Reference:

HP:0010252

Genes and Diseases:

Child Nodes:

........

Ivory epiphysis of the distal phalanx of the 5th finger (HP:0004223)

........

Ivory epiphysis of the distal phalanx of the 4th finger (HP:0009256)

........

Ivory epiphysis of the distal phalanx of the 3rd finger (HP:0009341)

........

Ivory epiphysis of the distal phalanx of the 2nd finger (HP:0009508)

........

Ivory epiphysis of the distal phalanx of the thumb (HP:0009681)

Sister Nodes:

Patchy sclerosis of distal phalanx of finger (HP:0009840)

Sclerosis of the distal phalanx of the 2nd finger (HP:0100900)

Sclerosis of the distal phalanx of the 3rd finger (HP:0100901)

Sclerosis of the distal phalanx of the 4th finger (HP:0100902)

Sclerosis of the distal phalanx of the 5th finger (HP:0100903)

Sclerosis of the distal phalanx of the thumb (HP:0100912)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010252	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010252	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0010252	HP:0004223	Ivory epiphysis of the distal phalanx of the 5th finger	1	CL E G H
HP:0010252	HP:0009681	Ivory epiphysis of the distal phalanx of the thumb	1	CL E G H
HP:0010252	HP:0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	1	CL E G H
HP:0010252	HP:0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	1	CL E G H
HP:0010252	HP:0009256	Ivory epiphysis of the distal phalanx of the 4th finger	1	CL E G H

Genes (2) :SRCAP TRPS1

Diseases (2) :OMIM:136140 OMIM:190350

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.