Opacification of the corneal epithelium
|
phenotype |
Eye Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Lipid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Apraxia, oculomotor, Cogan type
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
2
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Retinal thinning
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Streptococcal lymphadenitis of swine
|
disease |
Infections; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
13
|
1
|
0.040 |
None |
1.000 |
4 |
1
|
2007 |
2019 |
Papillomatosis
|
disease |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Sjogren-Larsson Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
28
|
0.800 |
strong |
1.000 |
59 |
26
|
1981 |
2019 |
Renal dysplasia and retinal aplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Thoracic kyphosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Retinal pigment epithelial atrophy
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Ethylmalonic encephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
33
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Neurocutaneous Syndromes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2006 |
Ichthyosiform Erythroderma, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
31
|
11
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2006 |
Corneal erosion
|
disease |
Infections; Eye Diseases
|
Disease or Syndrome
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
16
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2006 |
Little's Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
37
|
6
|
0.110 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hereditary macular dystrophy
|
disease |
|
Congenital Abnormality
|
39
|
10
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus, Normal Pressure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
6
|
0.020 |
None |
1.000 |
2 |
|
1993 |
1994 |
Congenital hypoplasia of adrenal gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
45
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Disorder of macula of retina
|
group |
Eye Diseases
|
Disease or Syndrome
|
49
|
24
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Macular dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
52
|
59
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Central nervous system demyelination
|
disease |
|
Disease or Syndrome
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|
Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
X-linked Adrenal Hypoplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
57
|
70
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |