Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cerebral white matter atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
20
|
11
|
0.100 |
None |
|
0 |
|
|
|
Cessation of head growth
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus carinatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Congenital Abnormality
|
138
|
26
|
0.100 |
None |
|
0 |
|
|
|
Claw hand
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
63
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Vertical Talus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
69
|
20
|
0.100 |
None |
|
0 |
|
|
|
Ectrodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
36
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
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 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Ulnar polydactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
92
|
11
|
0.100 |
None |
|
0 |
|
|
|
Split foot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Postaxial foot polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
45
|
4
|
0.100 |
None |
|
0 |
|
|
|
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.310 |
strong |
1.000 |
2 |
|
2017 |
2017 |
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2017 |
2017 |
Cervical dysplasia
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
56
|
1
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
316
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Human papilloma virus infection
|
disease |
Infections
|
Disease or Syndrome
|
429
|
42
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Ischemic stroke
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1159
|
704
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |