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:
Nephrocalcinosis (HP:0000121)

..Starting node
..Medullary nephrocalcinosis (HP:0012408)

Term ID:

12408

Name:

Medullary nephrocalcinosis

Synonym:

Definition:

The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).

Comments:

Reference:

HP:0012408

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cortical nephrocalcinosis (HP:0012409)

Microscopic nephrocalcinosis (HP:0008327)

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:0012408	HP:0012408	Medullary nephrocalcinosis	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	FGF23 CL E G H	8074	3680	OMIM:617993	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2		51
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent	47
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent	52
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0012408	HP:0012408	Medullary nephrocalcinosis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS

Genes (11) :ABCC6 ADAT3 CTNS ENPP1 FGF23 MAGED2 POLRMT SLC34A1 SLC34A3 TOR1A TTC26

Diseases (11) :ORPHA:51608 ORPHA:363528 OMIM:219800 OMIM:613312 OMIM:617993 OMIM:300971 OMIM:619743 ORPHA:157215 OMIM:616963 OMIM:618947 OMIM:619534

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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