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 5th finger phalanx morphology (HP:0004213)

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Parent Node:
Abnormality of the epiphyses of the 5th finger (HP:0009152)

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Parent Node:
Abnormality of the epiphyses of the middle phalanges of the hand (HP:0010244)

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Parent Node:
Abnormality of the middle phalanx of the 5th finger (HP:0004219)

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..Starting node
..Abnormality of the epiphysis of the middle phalanx of the 5th finger (HP:0004224)

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Term ID:

4224

Name:

Abnormality of the epiphysis of the middle phalanx of the 5th finger

Synonym:

Abnormality of the end part of middle little finger bone; Abnormality of the end part of middle pinkie finger bone; Abnormality of the end part of middle pinky finger bone

Definition:

Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Absent epiphysis of the middle phalanx of the 5th finger (HP:0009203)

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Bracket epiphysis of the middle phalanx of the 5th finger (HP:0009204)

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Cone-shaped epiphysis of the middle phalanx of the 5th finger (HP:0009205)

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Enlarged epiphysis of the middle phalanx of the 5th finger (HP:0009206)

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Fragmentation of the epiphysis of the middle phalanx of the 5th finger (HP:0009207)

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Irregular epiphysis of the middle phalanx of the 5th finger (HP:0009208)

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Ivory epiphysis of the middle phalanx of the 5th finger (HP:0009209)

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Pseudoepiphysis of the middle phalanx of the 5th finger (HP:0009210)

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Small epiphysis of the middle phalanx of the 5th finger (HP:0009211)

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Stippling of the epiphysis of the middle phalanx of the 5th finger (HP:0009212)

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Triangular epiphysis of the middle phalanx of the 5th finger (HP:0009213)

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Sister Nodes:

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Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)

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Broad middle phalanx of the 5th finger (HP:0009169)

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Bullet-shaped middle phalanx of the 5th finger (HP:0009168)

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Curved middle phalanx of the 5th finger (HP:0009173)

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Duplication of the middle phalanx of the 5th finger (HP:0009989)

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Osteolytic defects of the middle phalanx of the 5th finger (HP:0009170)

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Patchy sclerosis of the middle phalanx of the 5th finger (HP:0009175)

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Symphalangism of middle phalanx of 5th finger (HP:0009178)

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Triangular shaped middle phalanx of the 5th finger (HP:0009182)

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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:0004224	HP:0004224	Abnormality of the epiphysis of the middle phalanx of the 5th finger	0	CL E G H
HP:0004224	HP:0009207	Fragmentation of the epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009213	Triangular epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009206	Enlarged epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009205	Cone-shaped epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009211	Small epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009204	Bracket epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009210	Pseudoepiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009203	Absent epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009209	Ivory epiphysis of the middle phalanx of the 5th finger	1	CL E G H
HP:0004224	HP:0009208	Irregular epiphysis of the middle phalanx of the 5th 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.

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