renal agenesis

Summary
Synonym
  • hereditary renal aplasia
  • hereditary urogenital adysplasia
  • renal adysplasia
  • renal aplasia
Definition
A renal disease that is characterized by the failure of one or both kidneys to develop.
Super Class
kidney disease
External Links
Disease Ontology
DOID:14766
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
2218 FKTN fukutin
2674 GFRA1 GDNF family receptor alpha 1
2719 GPC3 glypican 3
6517 SLC2A4 solute carrier family 2 member 4
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
29954 POMT2 protein O-mannosyltransferase 2
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0001562 Oligohydramnios
HP:0030680 Abnormal cardiovascular system morphology
HP:0000286 Epicanthus
HP:0002242 Abnormal intestine morphology
HP:0000104 Renal agenesis
HP:0005107 Abnormal sacrum morphology
HP:0000369 Low-set ears
HP:0100589 Urogenital fistula
HP:0001958 Nonketotic hypoglycemia
HP:0000008 Abnormal morphology of female internal genitalia
Displaying 1 entry
Gene ID Gene Symbol Description
2674 GFRA1 GDNF family receptor alpha 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024