RETINITIS PIGMENTOSA 42
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
4 |
3
|
2009 |
2011 |
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.600 |
strong |
1.000 |
1 |
6
|
2016 |
2016 |
Webbed penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
3
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
COLD-INDUCED SWEATING SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
20
|
0.600 |
None |
1.000 |
1 |
4
|
2016 |
2016 |
Nevus flammeus of the forehead
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
COLD-INDUCED SWEATING SYNDROME 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
3
|
0.300 |
None |
|
0 |
|
|
|
Bohring syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
15
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2019 |
Abnormal palmar creases
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Crisponi syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
14
|
0.530 |
None |
0.667 |
3 |
|
2016 |
2019 |
Abnormality of toe
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
6
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Prader-Willi-like syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
17
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Thumb deformity
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
8
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Dermatofibrosis lenticularis disseminata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Small anterior fontanelle
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Accessory oral frenulum
|
disease |
|
Anatomical Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pancreas
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of the wrist
|
phenotype |
|
Sign or Symptom
|
14
|
9
|
0.100 |
None |
|
0 |
3
|
|
|
Thick hair
|
phenotype |
|
Finding
|
16
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anterior chamber anomalies
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Testicular Hydrocele
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
21
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Distal arthrogryposis syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Small midface
|
phenotype |
|
Finding
|
23
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Ulnar deviation of the fingers
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|