Xeroderma pigmentosum and Cockayne syndrome complex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
6
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Xeroderma pigmentosum, group B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
8
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2018 |
Xeroderma pigmentosum, group G
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
31
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diffuse panbronchiolitis
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
26
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Trichothiodystrophy Syndromes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
33
|
15
|
0.100 |
None |
1.000 |
22 |
1
|
1995 |
2018 |
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
34
|
8
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Rift Valley Fever
|
disease |
Digestive System Diseases; Infections; Animal Diseases
|
Disease or Syndrome
|
45
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Xeroderma pigmentosum, group A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
48
|
55
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Cortical cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
69
|
15
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
Xeroderma Pigmentosum, Complementation Group D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
111
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2010 |
Cockayne Syndrome, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
80
|
42
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
11
|
0.100 |
None |
1.000 |
10 |
|
1993 |
2019 |
Sleep Apnea, Central
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
122
|
17
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.100 |
None |
0.958 |
24 |
|
1993 |
2018 |
Hamartoma Syndrome, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
270
|
139
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
CNS disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
319
|
11
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Squamous cell carcinoma of tongue
|
disease |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
462
|
2
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2008 |
Adenomatous Polyposis Coli
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
609
|
237
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2019 |