Lenz Majewski hyperostotic dwarfism
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
1
|
3
|
0.740 |
None |
1.000 |
5 |
3
|
2014 |
2019 |
LATERAL MENINGOCELE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
118
|
12
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2019 |
LIMB-MAMMARY SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
120
|
1
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2019 |
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aortic Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperextensibility of the finger joints
|
phenotype |
|
Finding
|
18
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hyperconvex fingernails
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad ribs
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Flared metaphysis
|
phenotype |
|
Finding
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Redundant skin
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Pathologic Function
|
48
|
2
|
0.100 |
None |
|
0 |
|
|
|
Choanal stenosis
|
phenotype |
Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Finding
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Progressive sclerosis of skull base
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Diaphyseal thickening
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|