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:
Abnormal renal cortex morphology (HP:0011035)

Parent Node:
Renal atrophy (HP:0012585)

..Starting node
..Renal cortical atrophy (HP:0002048)

Term ID:

2048

Name:

Renal cortical atrophy

Synonym:

Definition:

Atrophy of the cortex of the kidney.

Comments:

Reference:

HP:0002048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral renal atrophy (HP:0012586)

Unilateral renal atrophy (HP:0008717)

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:0002048	HP:0002048	Renal cortical atrophy	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1

Genes (1) :MUC1

Diseases (1) :OMIM:174000

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