Abnormality of metabolism/homeostasis
phenotype
Finding
171
5
0.100
None
0
Aplasia/Hypoplasia of the breasts
phenotype
Finding
16
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
Arachnodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
102
25
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Azoospermia
disease
Male Urogenital Diseases
Disease or Syndrome
254
70
0.020
None
1.000
2
2009
2018
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.030
None
1.000
3
2015
2019
Carcinogenesis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6243
355
0.010
None
1.000
1
2019
2019
Carcinoma
group
Neoplasms
Neoplastic Process
2462
103
0.010
None
1.000
1
2013
2013
Carcinoma, Ovarian Epithelial
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Neoplastic Process
2841
327
0.010
None
1.000
1
2013
2013
×
CUI:
C0010709
Disease:
Cyst
Cyst
disease
Pathological Conditions, Signs and Symptoms; Neoplasms
Disease or Syndrome
221
6
0.010
None
1.000
1
2013
2013
Decreased fertility
phenotype
Finding
50
0.100
None
0
Delayed bone age
phenotype
Finding
295
14
0.100
None
0
Delayed Puberty
phenotype
Endocrine System Diseases
Pathologic Function
196
21
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
Fallopian Tube Carcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
Neoplastic Process
18
2
0.010
None
1.000
1
2013
2013
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
Gonadal dysgenesis XX type deafness
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome; Congenital Abnormality
14
11
0.010
None
1.000
1
2013
2013
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
0.310
None
1.000
2
2011
2018
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Increased circulating gonadotropin level
phenotype
Nervous System Diseases; Endocrine System Diseases
Finding
34
0.100
None
0
Liver carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
5725
942
0.010
None
1.000
1
2019
2019
Low serum estradiol levels
phenotype
Finding
33
0.100
None
0
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.030
None
1.000
3
2015
2019
Malignant neoplasm of ovary
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Neoplastic Process
2563
315
0.010
None
1.000
1
2013
2013