Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.330 |
None |
1.000 |
4 |
|
2002 |
2011 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Congenital fusion of ribs
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
171
|
12
|
0.100 |
None |
|
0 |
|
|
|
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2011 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2002 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
1.000 |
1 |
|
2000 |
2000 |
Congenital hemivertebra
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
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 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
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 |
|
|
|