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 cortex morphology (HP:0011035)

Grandparent Node:
Abnormal renal medulla morphology (HP:0100957)

Parent Node:
Abnormal renal corticomedullary differentiation (HP:0005932)

..Starting node
..Absence of renal corticomedullary differentiation (HP:0005564)

Term ID:

5564

Name:

Absence of renal corticomedullary differentiation

Synonym:

Absent renal corticomedullary differentiation; Loss of corticomedullary differentiation

Definition:

A lack of differentiation between renal cortex and medulla on diagnostic imaging.

Comments:

Reference:

HP:0005564

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced renal corticomedullary differentiation (HP:0005565)

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:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0005564	HP:0005564	Absence of renal corticomedullary differentiation	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (7) :H4C3 IFNG INVS PAX2 PBX1 PKHD1 TSC2

Diseases (6) :OMIM:619758 OMIM:613254 OMIM:602088 OMIM:120330 OMIM:617641 OMIM:263200

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