Oculopalatoskeletal syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
6
|
0.620 |
strong |
1.000 |
6 |
6
|
1996 |
2015 |
Craniofacial ulnar renal syndrome
|
disease |
|
Disease or Syndrome
|
3
|
|
0.340 |
None |
1.000 |
5 |
|
2011 |
2018 |
Carnevale syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Incontinentia Pigmenti Achromians
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
67
|
10
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Pigmentation Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Schamberg Disease
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malpuech facial clefting syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
164
|
139
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Amyotrophic Lateral Sclerosis, Sporadic
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
173
|
90
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
disease |
|
Disease or Syndrome
|
27
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
31
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Short foot
|
phenotype |
|
Finding
|
116
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital omphalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
85
|
13
|
0.100 |
None |
|
0 |
|
|
|
Conjunctival telangiectasis
|
disease |
|
Disease or Syndrome
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Diastasis recti
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Disease or Syndrome
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Postnatal growth retardation
|
phenotype |
|
Finding
|
121
|
11
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
Asymmetrical skull
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|