Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
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 |
Hereditary macular dystrophy
|
disease |
|
Congenital Abnormality
|
39
|
10
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
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 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.100 |
None |
|
0 |
|
|
|
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 |
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.090 |
None |
1.000 |
9 |
|
1996 |
2019 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.170 |
None |
1.000 |
7 |
|
1997 |
2019 |
Streptococcal lymphadenitis of swine
|
disease |
Infections; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
13
|
1
|
0.040 |
None |
1.000 |
4 |
1
|
2007 |
2019 |
Hydrocephalus, Normal Pressure
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
44
|
6
|
0.020 |
None |
1.000 |
2 |
|
1993 |
1994 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2008 |
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 |
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 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.120 |
None |
0.500 |
2 |
|
2000 |
2014 |
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 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
496
|
16
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
316
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Keratoconus
|
disease |
Eye Diseases
|
Disease or Syndrome
|
269
|
83
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |