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:
Abnormality of the kidney (HP:0000077)

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Parent Node:
Abnormal renal morphology (HP:0012210)

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..Starting node
..Abnormal renal calyx morphology (HP:0011130)

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Term ID:

11130

Name:

Abnormal renal calyx morphology

Synonym:

Abnormality of renal calyx morphology

Definition:

Any abnormality of the morphology of the major calices or minor calices of the kidney.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Polygonal renal calices (HP:0025359)

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Polycalycosis (HP:0025360)

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Dilatation of renal calices (HP:0100581)

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Sister Nodes:

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Abnormal localization of kidney (HP:0100542)

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Abnormal nephron morphology (HP:0012575)

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Abnormal renal artery morphology (HP:0008776)

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Abnormal renal collecting system morphology (HP:0004742)

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Abnormal renal cortex morphology (HP:0011035)

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Abnormal renal medulla morphology (HP:0100957)

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Abnormal renal pelvis morphology (HP:0010944)

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Decreased renal parenchymal thickness (HP:0025327)

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Enlarged kidney (HP:0000105)

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Hyperechogenic kidneys (HP:0004719)

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Nephrocalcinosis (HP:0000121)

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Nephrogenic rest (HP:0100880)

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Nephrolithiasis (HP:0000787)

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Nephrosclerosis (HP:0009741)

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Perinephric fluid collection (HP:0031226)

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Perirenal hematoma (HP:0030171)

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Renal amyloidosis (HP:0001917)

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Renal atrophy (HP:0012585)

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Renal cyst (HP:0000107)

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Renal duplication (HP:0000075)

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Renal dysplasia (HP:0000110)

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Renal fibrosis (HP:0030760)

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Renal hypoplasia/aplasia (HP:0008678)

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Renal malrotation (HP:0004712)

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Renal steatosis (HP:0000799)

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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:0011130	HP:0011130	Abnormal renal calyx morphology	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome				91
HP:0011130	HP:0011130	Abnormal renal calyx morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome				138
HP:0011130	HP:0011130	Abnormal renal calyx morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation				20
HP:0011130	HP:0025360	Polycalycosis	1	CL E G H
HP:0011130	HP:0025359	Polygonal renal calices	1	CL E G H
HP:0011130	HP:0100581	Dilatation of renal calices	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional			91
HP:0011130	HP:0100581	Dilatation of renal calices	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional			138
HP:0011130	HP:0100581	Dilatation of renal calices	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional			20

Genes (3) :KMT2A POLR3A WAC

Diseases (3) :ORPHA:319182 ORPHA:3455 ORPHA:466950

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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