Bullous Dermatitis
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Aplasia of the semicircular canal
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Noonan syndrome-like disorder with loose anagen hair
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.300 |
|
|
0 |
|
|
|
Abnormal platelet function
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
22
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Trophoblastic Neoplasms
|
group |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Noonan-Like Syndrome With Loose Anagen Hair
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
4
|
0.300 |
|
|
0 |
|
|
|
Fatal Familial Insomnia
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
25
|
16
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Enlarged thorax
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the spleen
|
disease |
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cardio-facio-cutaneous syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
28
|
82
|
0.300 |
|
|
0 |
|
|
|
Abnormal hair quantity
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Sporadic CJD
|
disease |
Infections; Nervous System Diseases; Mental Disorders; Animal Diseases
|
Disease or Syndrome
|
30
|
17
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Aplasia/Hypoplasia of the abdominal wall musculature
|
phenotype |
|
Finding
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
36
|
2
|
0.100 |
None |
|
0 |
|
|
|
Other Creutzfeldt-Jakob disease
|
disease |
Infections; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
37
|
18
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Thickened helices
|
phenotype |
|
Finding
|
37
|
3
|
0.100 |
None |
|
0 |
|
|
|
Olfactory Neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphangioma, Cystic
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal dermatoglyphic pattern
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Prostate Carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
45
|
12
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Mutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
47
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
LEOPARD Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
27
|
0.300 |
|
|
0 |
|
|
|
Costello syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
24
|
0.300 |
|
|
0 |
|
|
|