Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
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 |
|
|
|
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Neck webbing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
78
|
19
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Papilloma
|
disease |
Neoplasms
|
Neoplastic Process
|
273
|
27
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
8
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
leiomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
213
|
5
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Malignant Peripheral Nerve Sheath Tumor
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
261
|
19
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Soft Tissue Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
145
|
|
0.020 |
None |
1.000 |
2 |
|
1989 |
1991 |
Hematopoietic Neoplasms
|
group |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
322
|
2
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
|
disease |
|
Neoplastic Process
|
83
|
11
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Malignant neoplasm of soft tissue
|
group |
Neoplasms
|
Neoplastic Process
|
699
|
32
|
0.020 |
None |
1.000 |
2 |
|
1991 |
1992 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Plasma cell dyscrasia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
36
|
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Milroy Disease
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
52
|
18
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Monoclonal Gammapathies
|
group |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |