Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.600 |
strong |
0.923 |
26 |
5
|
2001 |
2019 |
Oculocutaneous albinism type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
1
|
|
0.070 |
None |
1.000 |
7 |
|
2002 |
2017 |
Albinism, Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
10
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2014 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autosomal dominant oculocutaneous albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Oculocutaneous Albinism, Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
26
|
0.780 |
None |
1.000 |
16 |
25
|
2001 |
2017 |
Albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
46
|
27
|
0.160 |
None |
1.000 |
6 |
1
|
2004 |
2017 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
54
|
6
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Melanosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
26
|
23
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Oculocutaneous albinism type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
11
|
58
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Ocular albinism, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
38
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
|
disease |
|
Disease or Syndrome
|
11
|
13
|
0.010 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
9
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Retinal depigmentation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Prescription Drug Abuse
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Finding
|
115
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Abnormality of the optic nerve
|
phenotype |
|
Finding
|
18
|
11
|
0.100 |
None |
|
0 |
|
|
|