From HPO
Glycosuria- MedGen UID:
- 42267
- •Concept ID:
- C0017979
- •
- Finding
An increased concentration of glucose in the urine.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Abnormality of the kidney- MedGen UID:
- 78593
- •Concept ID:
- C0266292
- •
- Congenital Abnormality
An abnormality of the kidney.
Unilateral renal agenesis- MedGen UID:
- 75607
- •Concept ID:
- C0266294
- •
- Congenital Abnormality
A unilateral form of agenesis of the kidney.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
Uterine hypoplasia- MedGen UID:
- 120575
- •Concept ID:
- C0266399
- •
- Congenital Abnormality
Underdevelopment of the uterus.
Atretic vas deferens- MedGen UID:
- 75613
- •Concept ID:
- C0266445
- •
- Congenital Abnormality
Abnormal closure or blockage of the vas deferens.
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Reduced sperm motility- MedGen UID:
- 98339
- •Concept ID:
- C0403823
- •
- Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Ureteropelvic junction obstruction- MedGen UID:
- 105482
- •Concept ID:
- C0521619
- •
- Anatomical Abnormality
Blockage of urine flow from the renal pelvis to the proximal ureter.
Abnormality of the genital system- MedGen UID:
- 155422
- •Concept ID:
- C0744356
- •
- Finding
An abnormality of the genital system.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Decreased numbers of nephrons- MedGen UID:
- 436031
- •Concept ID:
- C2673888
- •
- Finding
A reduction in the count of nephrons per kidney.
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
Multiple glomerular cysts- MedGen UID:
- 893156
- •Concept ID:
- C4022013
- •
- Pathologic Function
The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.
Abnormal renal morphology- MedGen UID:
- 1633142
- •Concept ID:
- C4551596
- •
- Anatomical Abnormality
Any structural anomaly of the kidney.
Epididymal cyst- MedGen UID:
- 1778106
- •Concept ID:
- C5442141
- •
- Anatomical Abnormality
A smooth, extratesticular, spherical cyst in the head of the epididymis.
Pancreatic hypoplasia- MedGen UID:
- 539808
- •Concept ID:
- C0266267
- •
- Congenital Abnormality
Hypoplasia of the pancreas.
Exocrine pancreatic insufficiency- MedGen UID:
- 75647
- •Concept ID:
- C0267963
- •
- Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Biliary tract abnormality- MedGen UID:
- 108201
- •Concept ID:
- C0549613
- •
- Finding
An abnormality of the biliary tree.
Pancreatic atrophy- MedGen UID:
- 1052705
- •Concept ID:
- CN376669
- •
- Finding
Wasting (shrinking) of the pancreas.
Cerebral cortical atrophy- MedGen UID:
- 1646740
- •Concept ID:
- C4551583
- •
- Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Gout- MedGen UID:
- 42280
- •Concept ID:
- C0018099
- •
- Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Impaired glucose tolerance- MedGen UID:
- 852424
- •Concept ID:
- C0151671
- •
- Finding
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
Glucose intolerance- MedGen UID:
- 75760
- •Concept ID:
- C0271650
- •
- Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Maturity onset diabetes mellitus in young- MedGen UID:
- 87433
- •Concept ID:
- C0342276
- •
- Disease or Syndrome
Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008).
Genetic Heterogeneity of MODY
MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20.
MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7.
MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24.
MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12.
MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17q12.
MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31.
MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25.
MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34.
MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32.
MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15.
MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23.
MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15.
MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
An abnormally high level of uric acid in the blood.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Abnormality of alkaline phosphatase level- MedGen UID:
- 892397
- •Concept ID:
- C4025328
- •
- Finding
An abnormality of alkaline phosphatase level.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system