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

Grandparent Node:
Abnormal renal morphology (HP:0012210)

Parent Node:
Renal dysplasia (HP:0000110)

..Starting node
..Unilateral renal dysplasia (HP:0008718)

Term ID:

8718

Name:

Unilateral renal dysplasia

Synonym:

Definition:

A unilateral form of developmental dysplasia of the kidney.

Comments:

Reference:

HP:0008718

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral renal dysplasia (HP:0012582)

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:0008718	HP:0008718	Unilateral renal dysplasia	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional	22
HP:0008718	HP:0008718	Unilateral renal dysplasia	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0008718	HP:0008718	Unilateral renal dysplasia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37

Genes (3) :BNC2 GATA3 PIGN

Diseases (3) :ORPHA:93110 OMIM:146255 ORPHA:280633

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