De Sanctis-Cacchione syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
51
|
0.600 |
None |
1.000 |
20 |
51
|
1981 |
2018 |
UV-SENSITIVE SYNDROME 1
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.400 |
None |
1.000 |
2 |
5
|
1982 |
2016 |
PREMATURE OVARIAN FAILURE 11
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.600 |
None |
1.000 |
1 |
6
|
2015 |
2015 |
Subcortical white matter calcifications
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar calcifications
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Second metatarsal posteriorly placed
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
MACULAR DEGENERATION, AGE-RELATED, 5
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
limited |
|
0 |
5
|
|
|
Pigmentation anomalies of sun-exposed skin
|
phenotype |
|
Pathologic Function
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cockayne Syndrome, Type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
7 |
|
1998 |
2016 |
Patchy demyelination of subcortical white matter
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Deep longitudinal plantar crease
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
LUNG CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
2
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal peripheral myelination
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Compulsive sexual behaviour
|
disease |
|
Mental or Behavioral Dysfunction
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gonadal hypoplasia
|
disease |
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Ivory epiphyses of the phalanges of the hand
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Square pelvis bone
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Slender nose
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Increased cellular sensitivity to UV light
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Peripheral dysmyelination
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased lacrimation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Loss of facial adipose tissue
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
7
|
58
|
0.740 |
None |
1.000 |
15 |
51
|
1981 |
2017 |
Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Developmental Psychomotor Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |