Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 renal morphology (HP:0012210)

Parent Node:
Abnormal renal cortex morphology (HP:0011035)

Parent Node:
Renal cyst (HP:0000107)

..Starting node
..Renal cortical cysts (HP:0000803)

Term ID:

803

Name:

Renal cortical cysts

Synonym:

Cortical cysts

Definition:

Cysts of the cortex of the kidney.

Comments:

Reference:

HP:0000803

Genes and Diseases:

Child Nodes:

........

Renal cortical microcysts (HP:0004734)

Sister Nodes:

Cystic renal dysplasia (HP:0000800)

Multicystic kidney dysplasia (HP:0000003)

Multiple renal cysts (HP:0005562)

Multiple small medullary renal cysts (HP:0008659)

Polycystic kidney dysplasia (HP:0000113)

Renal corticomedullary cysts (HP:0000108)

Renal diverticulum (HP:0100877)

Simple renal cyst (HP:0012581)

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:0000803	HP:0000803	Renal cortical cysts	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000803	HP:0000803	Renal cortical cysts	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000803	HP:0000803	Renal cortical cysts	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0000803	HP:0000803	Renal cortical cysts	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000803	HP:0000803	Renal cortical cysts	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000803	HP:0000803	Renal cortical cysts	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000803	HP:0000803	Renal cortical cysts	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000803	HP:0000803	Renal cortical cysts	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000803	HP:0000803	Renal cortical cysts	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000803	HP:0000803	Renal cortical cysts	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0000803	HP:0000803	Renal cortical cysts	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000803	HP:0000803	Renal cortical cysts	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000803	HP:0000803	Renal cortical cysts	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000803	HP:0000803	Renal cortical cysts	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0000803	HP:0000803	Renal cortical cysts	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000803	HP:0000803	Renal cortical cysts	0	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9		43
HP:0000803	HP:0000803	Renal cortical cysts	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000803	HP:0000803	Renal cortical cysts	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0000803	HP:0000803	Renal cortical cysts	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000803	HP:0000803	Renal cortical cysts	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000803	HP:0004734	Renal cortical microcysts	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0000803	HP:0004734	Renal cortical microcysts	1	NEK8 CL E G H	284086	13387	OMIM:613824	NEPHRONOPHTHISIS 9; NPHP9		43
HP:0000803	HP:0004734	Renal cortical microcysts	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000803	HP:0004734	Renal cortical microcysts	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000803	HP:0004734	Renal cortical microcysts	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.

Genes (19) :CD96 CDKN1C CEP290 CSPP1 ETFA ETFB ETFDH H19-ICR IGF2 INVS KCNQ1 KCNQ1OT1 KIAA0586 MPDU1 NEK8 PEX1 PEX2 PIGQ SKIC3

Diseases (13) :OMIM:211750 OMIM:130650 OMIM:610188 ORPHA:397715 OMIM:231680 OMIM:602088 OMIM:609180 ORPHA:79323 OMIM:613824 OMIM:214100 OMIM:614866 OMIM:618548 OMIM:222470

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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