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

Human Phenotype Ontology

Grandparent Node:
Abnormal epiphysis morphology of the phalanges of the hand (HP:0005920)

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Grandparent Node:
Abnormal hand bone ossification (HP:0010660)

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Grandparent Node:
Epiphyseal stippling (HP:0010655)

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

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Parent Node:
Epiphyseal stippling of finger phalanges (HP:0010237)

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..Starting node
..Stippling of the epiphyses of the distal phalanges of the hand (HP:0010255)

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Term ID:

10255

Name:

Stippling of the epiphyses of the distal phalanges of the hand

Synonym:

Speckled calcifications in the end part of the outermost hand bones

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Stippling of the epiphysis of the distal phalanx of the 5th finger (HP:0009165)

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Stippling of the epiphysis of the distal phalanx of the 4th finger (HP:0009259)

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Stippling of the epiphysis of the distal phalanx of the 3rd finger (HP:0009344)

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Stippling of the epiphysis of the distal phalanx of the 2nd finger (HP:0009511)

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Stippling of the epiphysis of the distal phalanx of the thumb (HP:0009684)

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Sister Nodes:

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Stippling of the epiphyses of the 2nd finger (HP:0009497)

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Stippling of the epiphyses of the 3rd finger (HP:0009419)

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Stippling of the epiphyses of the 4th finger (HP:0009402)

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Stippling of the epiphyses of the 5th finger (HP:0009391)

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Stippling of the epiphyses of the middle phalanges of the hand (HP:0010266)

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Stippling of the epiphyses of the proximal phalanges of the hand (HP:0010277)

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Stippling of thumb epiphysis (HP:0009695)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010255	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0010255	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C				90
HP:0010255	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C				52
HP:0010255	HP:0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	1	CL E G H
HP:0010255	HP:0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	1	CL E G H
HP:0010255	HP:0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	1	CL E G H
HP:0010255	HP:0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	1	CL E G H
HP:0010255	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent			90
HP:0010255	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent			52

Genes (3) :ARSL BMPR1B GDF5

Diseases (2) :ORPHA:79345 ORPHA:93384

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

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