Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Glomerulonephritis, Membranoproliferative
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.100 |
None |
|
0 |
|
|
|
Hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
88
|
17
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.100 |
None |
|
0 |
|
|
|
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
162
|
53
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Lipoatrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
6
|
0.100 |
None |
|
0 |
|
|
|
Lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
226
|
28
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
1
|
1
|
0.500 |
limited |
1.000 |
2 |
1
|
2006 |
2012 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Loss of subcutaneous adipose tissue from upper limbs
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Loss of truncal subcutaneous adipose tissue
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant transformation
|
phenotype |
|
Neoplastic Process
|
1027
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mandibuloacral dysostosis
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
16
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Microglossia
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Microscopic hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|