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:
Abnormal renal medulla morphology (HP:0100957)

..Starting node
..Abnormal renal corticomedullary differentiation (HP:0005932)

Term ID:

5932

Name:

Abnormal renal corticomedullary differentiation

Synonym:

Definition:

An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.

Comments:

Reference:

HP:0005932

Genes and Diseases:

Child Nodes:

........

Absence of renal corticomedullary differentiation (HP:0005564)

........

Reduced renal corticomedullary differentiation (HP:0005565)

Sister Nodes:

Abnormality of medullary pyramid morphology (HP:0025361)

Multiple small medullary renal cysts (HP:0008659)

Nephronophthisis (HP:0000090)

Renal corticomedullary cysts (HP:0000108)

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:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0005932	HP:0005932	Abnormal 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:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0005932	HP:0005932	Abnormal 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:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0005932	HP:0005932	Abnormal renal corticomedullary differentiation	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	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:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0005932	HP:0005564	Absence of renal corticomedullary differentiation	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0005932	HP:0005565	Reduced renal corticomedullary differentiation	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63

Genes (21) :BSND CEP290 CLCN7 COQ7 DCDC2 DHX16 DZIP1L H4C3 IFNG IFT140 INVS NIPBL PAX2 PBX1 PDCD6IP PKHD1 TMEM67 TSC2 TULP3 USP18 VPS33B

Diseases (20) :OMIM:602522 OMIM:610188 OMIM:618541 OMIM:616733 ORPHA:84081 OMIM:618733 ORPHA:731 OMIM:617610 OMIM:619758 OMIM:613254 OMIM:266920 OMIM:602088 OMIM:122470 OMIM:120330 OMIM:617641 OMIM:620047 OMIM:263200 OMIM:619902 OMIM:617397 OMIM:208085

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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