Cystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
22
|
83
|
1.000 |
definitive |
0.987 |
78 |
48
|
1993 |
2019 |
Hypotonia-Cystinuria Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
6
|
|
0.570 |
None |
0.889 |
9 |
|
2006 |
2019 |
Cystinuria, Type A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
|
0.320 |
None |
1.000 |
3 |
|
2006 |
2019 |
2p21 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
hypertensive nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
55
|
8
|
0.300 |
moderate |
|
0 |
|
|
|
Nephritis, Interstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
79
|
5
|
0.300 |
moderate |
|
0 |
|
|
|
Nephritis, Tubulointerstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
92
|
6
|
0.300 |
moderate |
|
0 |
|
|
|
Nephrolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
242
|
99
|
0.120 |
None |
1.000 |
3 |
1
|
1998 |
2018 |
Cystinuria type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
4
|
7
|
0.100 |
None |
1.000 |
17 |
6
|
1995 |
2006 |
Nephrocalcinosis
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
118
|
20
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Nasal voice
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hyperlysinuria
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Recurrent urinary tract infection
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
237
|
21
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial respiratory chain defects
|
phenotype |
|
Finding
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.100 |
None |
|
0 |
|
|
|