Abnormality of carbohydrate metabolism/homeostasis
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
beta-Mannosidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
13
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Dense calvaria
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
MPS III D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
5
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ovoid thoracolumbar vertebrae
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Knee stiff
|
phenotype |
|
Sign or Symptom
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MPS III C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
38
|
0.300 |
None |
|
0 |
|
|
|
Thick rib
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Heparan sulfate excretion in urine
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Kluver-Bucy Syndrome
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Multiple Sulfatase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Pigmentary retinopathy
|
disease |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
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
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hangover from any Alcohol or Other Drugs substance
|
phenotype |
|
Sign or Symptom
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hangover from alcohol
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Sign or Symptom
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mucopolysaccharidosis III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
17
|
15
|
0.890 |
None |
1.000 |
27 |
6
|
1997 |
2019 |
Mucopolysaccharidosis Type IIIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
69
|
0.800 |
None |
1.000 |
83 |
67
|
1991 |
2019 |
Gastrointestinal dysmotility
|
phenotype |
|
Finding
|
28
|
13
|
0.100 |
None |
|
0 |
2
|
|
|
Kearns-Sayre syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Asymmetric Septal Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
Severe visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
9
|
0.100 |
None |
|
0 |
2
|
|
|
Pfaundler-Hurler Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
90
|
0.100 |
None |
|
0 |
|
|
|
Neurodegeneration with brain iron accumulation (NBIA)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Mucopolysaccharidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
48
|
7
|
0.080 |
None |
1.000 |
8 |
|
1978 |
2019 |
Growth abnormality
|
phenotype |
|
Finding
|
49
|
5
|
0.100 |
None |
|
0 |
|
|
|