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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   renal agenesis
  

Disease ID 1298
Disease renal agenesis
Definition
Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop. - Wikipedia
Reference: https://en.wikipedia.org/wiki/renal agenesis
Synonym
renal agenesis and dysgenesis
renal agenesis and dysgenesis (disorder)
renal agenesis or dysgenesis nos
renal agenesis or dysgenesis nos (disorder)
renal agenesis/dysgenesis
Orphanet
OMIM
DOID
UMLS
C0158699
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:19)
C0175703  |  tar syndrome  |  2
C0022658  |  kidney disease  |  1
C0030421  |  paraganglioma  |  1
C0020626  |  hypoparathyroidism  |  1
C0001418  |  adenocarcinoma  |  1
C0079924  |  oligohydramnios  |  1
C0031485  |  phenylketonuria  |  1
C0027662  |  multiple endocrine neoplasia  |  1
C0085413  |  autosomal dominant polycystic kidney disease  |  1
C0035078  |  renal failure  |  1
C0085693  |  acute appendicitis  |  1
C0162809  |  kallmann syndrome  |  1
C0003615  |  appendicitis  |  1
C0085413  |  autosomal dominant polycystic kidney  |  1
C0026654  |  moyamoya  |  1
C0022679  |  cystic kidney  |  1
C0026654  |  moyamoya disease  |  1
C0043008  |  waardenburg syndrome  |  1
C0020295  |  hydronephrosis  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:79)
120  |  ADD3  |  1.893  |  DISEASES
174  |  AFP  |  1.078  |  DISEASES
375790  |  AGRN  |  1.139  |  DISEASES
80114  |  BICC1  |  2.275  |  DISEASES
655  |  BMP7  |  2.136  |  DISEASES
1081  |  CGA  |  1.847  |  DISEASES
55636  |  CHD7  |  1.949  |  DISEASES
1453  |  CSNK1D  |  1.771  |  DISEASES
1499  |  CTNNB1  |  1.718  |  DISEASES
56998  |  CTNNBIP1  |  2.665  |  DISEASES
348180  |  CTU2  |  3.011  |  DISEASES
51339  |  DACT1  |  2.304  |  DISEASES
1621  |  DBH  |  1.046  |  DISEASES
1717  |  DHCR7  |  2.025  |  DISEASES
1736  |  DKC1  |  1.371  |  DISEASES
1855  |  DVL1  |  1.436  |  DISEASES
64641  |  EBF2  |  2.35  |  DISEASES
1910  |  EDNRB  |  2.368  |  DISEASES
2018  |  EMX2  |  2.094  |  DISEASES
54845  |  ESRP1  |  2.214  |  DISEASES
80004  |  ESRP2  |  2.884  |  DISEASES
2104  |  ESRRG  |  2.692  |  DISEASES
80712  |  ESX1  |  1.484  |  DISEASES
2118  |  ETV4  |  2.722  |  DISEASES
2138  |  EYA1  |  4.285  |  DISEASES
2153  |  F5  |  1.08  |  DISEASES
2187  |  FANCB  |  2.676  |  DISEASES
2197  |  FAU  |  2.21  |  DISEASES
2257  |  FGF12  |  2.472  |  DISEASES
8822  |  FGF17  |  2.231  |  DISEASES
2253  |  FGF8  |  3.401  |  DISEASES
2260  |  FGFR1  |  3.365  |  DISEASES
2263  |  FGFR2  |  2.574  |  DISEASES
23767  |  FLRT3  |  2.786  |  DISEASES
342184  |  FMN1  |  3.439  |  DISEASES
2303  |  FOXC2  |  1.258  |  DISEASES
158326  |  FREM1  |  5.502  |  DISEASES
166752  |  FREM3  |  4.783  |  DISEASES
2668  |  GDNF  |  4.983  |  DISEASES
2674  |  GFRA1  |  3.115  |  DISEASES
2737  |  GLI3  |  1.643  |  DISEASES
23426  |  GRIP1  |  2.283  |  DISEASES
2932  |  GSK3B  |  1.174  |  DISEASES
3239  |  HOXD13  |  1.348  |  DISEASES
9653  |  HS2ST1  |  4.448  |  DISEASES
8516  |  ITGA8  |  2.631  |  DISEASES
3767  |  KCNJ11  |  1.516  |  DISEASES
54900  |  LAX1  |  1.015  |  DISEASES
3980  |  LIG3  |  2.482  |  DISEASES
5600  |  MAPK11  |  1.762  |  DISEASES
79104  |  MEG8  |  1.17  |  DISEASES
4507  |  MTAP  |  1.442  |  DISEASES
23218  |  NBEAL2  |  1.577  |  DISEASES
147111  |  NOTUM  |  2.966  |  DISEASES
255743  |  NPNT  |  2.627  |  DISEASES
55742  |  PARVA  |  2.109  |  DISEASES
29780  |  PARVB  |  2.57  |  DISEASES
5076  |  PAX2  |  4.229  |  DISEASES
7849  |  PAX8  |  2.048  |  DISEASES
5125  |  PCSK5  |  1.084  |  DISEASES
5420  |  PODXL  |  1.174  |  DISEASES
5764  |  PTN  |  1.011  |  DISEASES
5979  |  RET  |  4.202  |  DISEASES
7955  |  RNF217-AS1  |  1.684  |  DISEASES
6092  |  ROBO2  |  2.159  |  DISEASES
23212  |  RRS1  |  1.19  |  DISEASES
6439  |  SFTPB  |  1.117  |  DISEASES
25970  |  SH2B1  |  1.603  |  DISEASES
55315  |  SLC29A3  |  1.506  |  DISEASES
6586  |  SLIT3  |  1.403  |  DISEASES
10252  |  SPRY1  |  2.528  |  DISEASES
81848  |  SPRY4  |  1.956  |  DISEASES
6736  |  SRY  |  1.122  |  DISEASES
9096  |  TBX18  |  2.682  |  DISEASES
10732  |  TCFL5  |  1.35  |  DISEASES
7012  |  TERC  |  1.305  |  DISEASES
51481  |  VCX3A  |  2.529  |  DISEASES
7481  |  WNT11  |  3.226  |  DISEASES
7490  |  WT1  |  2.896  |  DISEASES
Locus(Waiting for update.)
Disease ID 1298
Disease renal agenesis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:28)
HP:0000078  |  Genital abnormalities  |  6
HP:0002089  |  Hypoplastic lungs  |  2
HP:0002566  |  Intestinal malrotation  |  2
HP:0011626  |  Scimitar anomaly  |  2
HP:0010497  |  Sirenomelia  |  2
HP:0001999  |  Facial dysmorphism  |  1
HP:0002664  |  Neoplasia  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0003762  |  Uterus didelphys  |  1
HP:0000125  |  Pelvic kidney  |  1
HP:0004602  |  Fusion of cervical vertebrae c2-3  |  1
HP:0012531  |  Pain  |  1
HP:0002668  |  Paragangliomas  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0000829  |  Hypoparathyroidism  |  1
HP:0000458  |  Anosmia  |  1
HP:0000113  |  Polycystic kidney dysplasia  |  1
HP:0002282  |  Heterotopias  |  1
HP:0100568  |  Endocrine neoplasia  |  1
HP:0100272  |  Branchial sinus  |  1
HP:0004099  |  Finger overgrowth  |  1
HP:0012873  |  Absent deferent duct  |  1
HP:0008551  |  Hypoplasia of the external ear  |  1
HP:0000126  |  Hydronephrosis  |  1
HP:0001562  |  Oligohydramnios  |  1
HP:0000028  |  Cryptorchidism  |  1
HP:0003097  |  Short femur  |  1
HP:0000813  |  Bicornuate uterus  |  1
Disease ID 1298
Disease renal agenesis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C1609433  |  potter syndrome
C0266619  |  potter facies
C0079924  |  oligohydramnios
C0032357  |  poland syndrome
C0020295  |  hydronephrosis
C0018934  |  hematocolpos
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0079924  |  oligohydramnios  |  1
C0020295  |  hydronephrosis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1298
Disease renal agenesis
Case(Waiting for update.)