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
Osteoporosis of vertebrae
disease
Disease or Syndrome
15
0.100
None
0
Abnormality of the intervertebral disk
disease
Anatomical Abnormality
30
0.100
None
0
Partial duplication of thumb phalanx
disease
Anatomical Abnormality
12
1
0.100
None
0
Tubular Atrophy Assessment
phenotype
Diagnostic Procedure
17
0.100
None
0
Abnormality of metabolism/homeostasis
phenotype
Finding
171
5
0.100
None
0
Light complexion
phenotype
Finding
1
1
0.100
None
0
1
Sparse pubic hair
phenotype
Finding
42
0.100
None
0
Variable expressivity
phenotype
Finding
319
0.100
None
0
Increased circulating gonadotropin level
phenotype
Nervous System Diseases; Endocrine System Diseases
Finding
34
0.100
None
0
Chronic kidney disease stage 5
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
666
194
0.100
None
0
Short Stature, CTCAE
phenotype
Finding
1010
0.100
None
0
Aqueductal Stenosis
disease
Nervous System Diseases
Disease or Syndrome
34
2
0.100
None
0
Hiatal Hernia
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
39
3
0.100
None
0
Adducted thumb
phenotype
Musculoskeletal Diseases
Finding
74
5
0.100
None
0
Clinodactyly
disease
Congenital Abnormality
148
18
0.100
None
0
Streak ovary
disease
Congenital Abnormality
21
0.100
None
0
Clinodactyly of fingers
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
160
7
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
Dwarfism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
Congenital Abnormality
1261
77
0.100
None
0
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Kidney Diseases
group
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
1180
140
0.100
None
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0
Congenital pectus excavatum
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
272
36
0.100
None
0
Osteopenia
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
845
61
0.100
None
0