Linear atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
149
|
6
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Spinal canal stenosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of nail of toe
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Wide penis
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of hair density
|
disease |
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cortical diaphyseal thickening of the upper limbs
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple gastrointestinal atresias (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
5
|
23
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2013 |
Neuronal choristoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Congenital macrodactylia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
10
|
4
|
0.100 |
None |
|
0 |
|
|
|
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Talipes transversoplanus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Acromegaly
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
138
|
25
|
0.400 |
None |
1.000 |
25 |
4
|
2007 |
2019 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.100 |
None |
0.905 |
21 |
3
|
2007 |
2020 |
Gigantism
|
disease |
Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.060 |
None |
1.000 |
6 |
1
|
2013 |
2018 |
Acute intermittent porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
103
|
68
|
0.040 |
None |
1.000 |
4 |
|
1990 |
2019 |
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2018 |
Familial acromegaly
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2016 |
Gigantism and acromegaly
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2017 |
Pituitary Diseases
|
group |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
153
|
3
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2013 |
Pituitary-dependent Cushing's disease
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
115
|
8
|
0.320 |
strong |
1.000 |
2 |
|
2010 |
2012 |