Osteopenia
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
845
61
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
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
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
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
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Ascites
phenotype
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
198
7
0.100
None
0
Secondary physiologic amenorrhea
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
58
2
0.100
None
0
Low set ears
disease
Congenital Abnormality
489
64
0.100
None
0
Streak ovary
disease
Congenital Abnormality
21
0.100
None
0
Decreased fertility
phenotype
Finding
50
0.100
None
0
Growth delay
phenotype
Pathologic Function
244
40
0.100
None
0
Posteriorly rotated ear
disease
Congenital Abnormality
176
23
0.100
None
0
Spastic Quadriplegia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
86
7
0.100
None
0
Secondary amenorrhea
phenotype
Pathological Conditions, Signs and Symptoms
Finding
49
0.100
None
0
Motor retardation
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
Finding
98
8
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Arachnodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
102
25
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
Leukoencephalopathy
group
Nervous System Diseases
Disease or Syndrome
189
17
0.100
None
0
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
Abnormal amniotic fluid
phenotype
Finding
8
0.100
None
0
Mitochondrial Diseases
group
Nutritional and Metabolic Diseases
Disease or Syndrome
284
84
0.030
None
1.000
3
2007
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
Hypertrophic obstructive cardiomyopathy
disease
Cardiovascular Diseases
Disease or Syndrome
233
90
0.010
None
1.000
1
2011
2011