Infantile uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/hypoplasia of the uterus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Pure Gonadal Dysgenesis, 46, XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Gonadal Dysgenesis, 46,XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
10
|
11
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
46, XX Gonadal Sex Reversal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
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
|
0.100 |
None |
|
0 |
|
|
|
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
102
|
25
|
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 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Combined Oxidative Phosphorylation Deficiency 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
3 |
2
|
2007 |
2017 |
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.020 |
None |
0.500 |
2 |
1
|
2018 |
2019 |
Disorder of endocrine ovary
|
group |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
22
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ovarian Mucinous Adenocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
45
|
24
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mammary Neoplasms, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
527
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mammary Carcinoma, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
545
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
5 |
1
|
2007 |
2017 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating gonadotropin level
|
phenotype |
Nervous System Diseases; Endocrine System Diseases
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|