Tubular atrophy
phenotype
Finding
17
1
0.100
None
0
Sloping forehead
phenotype
Finding
149
5
0.100
None
0
Narrow forehead
phenotype
Finding
106
20
0.100
None
0
Aplasia/Hypoplasia of the breasts
phenotype
Finding
16
0.100
None
0
Decreased fertility
phenotype
Finding
50
0.100
None
0
Arachnodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
102
25
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
Micrognathism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
586
53
0.100
None
0
Muscle Hypertonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
197
21
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Osteopenia
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
845
61
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
Delayed Puberty
phenotype
Endocrine System Diseases
Pathologic Function
196
21
0.100
None
0
Pulmonary Fibrosis
disease
Respiratory Tract Diseases
Disease or Syndrome
924
25
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
Orbital separation excessive
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Finding
590
77
0.100
None
0
Hypercholesterolemia
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
489
123
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Cleft upper lip
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Congenital Abnormality
255
282
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
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
Hallux Valgus
disease
Musculoskeletal Diseases
Anatomical Abnormality
61
6
0.100
None
0