Glomerulopathy Assessment
phenotype
Diagnostic Procedure
84
0.400
limited
0
Disorder of eye
group
Eye Diseases
Disease or Syndrome
400
14
0.300
limited
0
Foveal hypoplasia (finding)
phenotype
Finding
25
4
0.100
None
0
Penis agenesis
disease
Male Urogenital Diseases
Congenital Abnormality
217
11
0.100
None
0
1
Primary hypogonadism
disease
Endocrine System Diseases
Disease or Syndrome
80
6
0.100
None
0
Nausea and vomiting
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
257
11
0.100
None
0
Atresia of vagina
disease
Congenital Abnormality
16
0.100
None
0
Nystagmus
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
833
95
0.100
None
0
Osteoporosis
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
1098
182
0.100
None
0
Polycystic Ovary Syndrome
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Disease or Syndrome
988
363
0.100
None
0
Weight decreased
phenotype
Pathological Conditions, Signs and Symptoms
Finding
271
3
0.100
None
0
Ptosis
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
607
12
0.100
None
0
Proteinuria
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Finding
239
20
0.100
None
0
1
×
CUI:
C1258215
Disease:
Ileus
Ileus
disease
Digestive System Diseases
Disease or Syndrome
20
0.100
None
0
Delayed Puberty
phenotype
Endocrine System Diseases
Pathologic Function
196
21
0.100
None
0
Scoliosis, unspecified
disease
Musculoskeletal Diseases
Disease or Syndrome
850
135
0.100
None
0
Micrognathism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
586
53
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
Nystagmus, CTCAE 3.0
phenotype
Finding
779
0.100
None
0
Increased circulating gonadotropin level
phenotype
Nervous System Diseases; Endocrine System Diseases
Finding
34
0.100
None
0
Gonadal tissue inappropriate for external genitalia or chromosomal sex
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Finding
1
0.100
None
0
Primary gonadal insufficiency
phenotype
Finding
21
0.100
None
0
Sparse axillary hair
phenotype
Finding
39
0.100
None
0
Sparse pubic hair
phenotype
Finding
42
0.100
None
0
Abnormal vagina morphology
phenotype
Finding
12
0.100
None
0