Abnormality of pelvic girdle bone morphology
|
disease |
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the hip joint
|
disease |
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the acetabulum
|
disease |
|
Anatomical Abnormality
|
7
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebral white matter atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
20
|
11
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the subarachnoid space
|
phenotype |
|
Anatomical Abnormality
|
3
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Distally placed thumb
|
phenotype |
|
Anatomical Abnormality
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Cutaneous syndactyly between fingers 2 and 5
|
phenotype |
|
Anatomical Abnormality
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the cerebral cortex
|
disease |
|
Anatomical Abnormality
|
11
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormality of the cerebral ventricles
|
disease |
|
Anatomical Abnormality
|
4
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
61
|
24
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
171
|
12
|
0.100 |
None |
|
0 |
2
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
2
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
2
|
|
|
Kohlschutter Tonz syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
Disease or Syndrome
|
8
|
11
|
0.740 |
strong |
1.000 |
6 |
11
|
1995 |
2017 |
Klippel-Trenaunay-Weber Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
14
|
6
|
0.020 |
None |
1.000 |
2 |
1
|
2012 |
2013 |
2-methyl-3-hydroxybutyric aciduria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
10
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
|
disease |
|
Disease or Syndrome
|
7
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
72
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Hypohidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
2
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
2
|
|
|
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.100 |
None |
|
0 |
2
|
|
|