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 proximal phalanges of the hand (HP:0010245)

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Parent Node:
Abnormality of the proximal phalanx of the 5th finger (HP:0009150)

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..Starting node
..Abnormality of the epiphysis of the proximal phalanx of the 5th finger (HP:0009153)

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Term ID:

9153

Name:

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

Synonym:

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

Definition:

Abnormality of the epiphysis of the proximal 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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Triangular epiphysis of the proximal phalanx of the 5th finger (HP:0009154)

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Cone-shaped epiphysis of the proximal phalanx of the 5th finger (HP:0009155)

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Ivory epiphysis of the proximal phalanx of the 5th finger (HP:0009157)

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Small epiphysis of the proximal phalanx of the 5th finger (HP:0009159)

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Absent epiphysis of the proximal phalanx of the 5th finger (HP:0009160)

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Bracket epiphysis of the proximal phalanx of the 5th finger (HP:0009197)

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Irregular epiphysis of the proximal phalanx of the 5th finger (HP:0009199)

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Pseudoepiphysis of the proximal phalanx of the 5th finger (HP:0009200)

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Stippling of the epiphysis of the proximal phalanx of the 5th finger (HP:0009201)

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Fragmentation of the epiphysis of the proximal phalanx of the 5th finger (HP:0009202)

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Sister Nodes:

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Aplasia/Hypoplasia of the proximal phalanx of the 5th finger (HP:0009192)

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Broad proximal phalanx of the 5th finger (HP:0009227)

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Bullet-shaped proximal phalanx of the 5th finger (HP:0009228)

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Curved proximal phalanx of the 5th finger (HP:0009229)

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Duplication of the proximal phalanx of the 5th finger (HP:0009990)

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Osteolytic defects of the proximal phalanx of the 5th finger (HP:0009230)

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Patchy sclerosis of the proximal phalanx of the 5th finger (HP:0009231)

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Symphalangism affecting the proximal phalanx of the 5th finger (HP:0009232)

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Triangular shaped proximal phalanx of the 5th finger (HP:0009233)

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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:0009153	HP:0009153	Abnormality of the epiphysis of the proximal phalanx of the 5th finger	0	CL E G H
HP:0009153	HP:0009200	Pseudoepiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009154	Triangular epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009199	Irregular epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009197	Bracket epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009160	Absent epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009159	Small epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009202	Fragmentation of the epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009157	Ivory epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009153	HP:0009155	Cone-shaped epiphysis of the proximal 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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