SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.760 |
None |
1.000 |
7 |
4
|
2010 |
2019 |
Acrofrontofacionasal dysostosis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nonprogressive visual loss
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
INFANTILE LIVER FAILURE SYNDROME 2
|
disease |
|
Disease or Syndrome
|
2
|
12
|
0.730 |
None |
1.000 |
6 |
12
|
2015 |
2019 |
Prerenal uremia syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Drug-induced Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
MPS III B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
92
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Acute chest pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Prominent glabella
|
phenotype |
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Chronic interstitial nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
18
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Oculocutaneous albinism type 1A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
21
|
101
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dent's disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
12
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Pelger-Huet Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
7
|
0.050 |
None |
1.000 |
5 |
|
2010 |
2020 |
Fanconi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Achromatopsia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
63
|
0.100 |
None |
|
0 |
|
|
|
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
32
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cystinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
32
|
27
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Recurrent hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
35
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Renal tubular injury
|
disease |
|
Disease or Syndrome
|
36
|
1
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cholestasis, progressive familial intrahepatic 1
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
38
|
19
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Acute appendicitis NOS (disorder)
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intestinal Polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
48
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Aristolochic Acid Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
49
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Decompensated cirrhosis of liver
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
52
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |