Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.010 |
None |
1.000 |
1 |
|
1975 |
1975 |
Primary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
129
|
10
|
0.010 |
None |
1.000 |
1 |
|
1975 |
1975 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.010 |
None |
1.000 |
1 |
|
1975 |
1975 |
Chromosome 2, trisomy 2q
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1977 |
1977 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
1979 |
1979 |
Partial Trisomy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
29
|
|
0.020 |
None |
1.000 |
2 |
|
1977 |
1981 |
Chromosome 3, trisomy 3q
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1981 |
1981 |
Gonadal Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
53
|
6
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.030 |
None |
1.000 |
3 |
|
1986 |
1987 |
Common acute lymphoblastic leukemia
|
disease |
|
Neoplastic Process
|
43
|
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Leiomyosarcoma of uterus
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
71
|
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Prolymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
37
|
2
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
10
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Von Hippel-Lindau Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
174
|
187
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
35
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
adult chronic myelogenous leukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1
|
3
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Mucopolysaccharidosis II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
69
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Christ-Siemens-Touraine syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
78
|
0.020 |
None |
1.000 |
2 |
|
1989 |
1991 |
Bloch Sulzberger syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
41
|
10
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Ewings sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
25
|
0.020 |
None |
1.000 |
2 |
|
1989 |
1992 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
T-Cell Prolymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
52
|
4
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |