Large beaked nose
disease
Anatomical Abnormality
13
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Omenn Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
Disease or Syndrome
35
48
0.300
None
0
Blepharophimosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
106
15
0.100
None
0
Eosinophilia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
325
23
0.100
None
0
Malabsorption, CTCAE
phenotype
Finding
175
0.100
None
0
Abnormality of the metaphysis
disease
Anatomical Abnormality
97
0.100
None
0
×
CUI:
C0015967
Disease:
Fever
Fever
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1021
66
0.100
None
0
Autoimmune state
phenotype
Pathologic Function
70
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
Asthma
disease
Respiratory Tract Diseases; Immune System Diseases
Disease or Syndrome
2096
1536
0.100
None
0
Telangiectasia of the skin
phenotype
Cardiovascular Diseases
Finding
56
3
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
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Cryptorchidism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
725
80
0.100
None
0
Exfoliative dermatitis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
64
2
0.100
None
0
Short Stature, CTCAE
phenotype
Finding
1010
0.100
None
0
Aplasia/Hypoplasia of the thumb
phenotype
Musculoskeletal Diseases
Finding
22
1
0.100
None
0
Joint hyperflexibility
phenotype
Finding
181
12
0.100
None
0
Malabsorption
phenotype
Digestive System Diseases
Finding
175
3
0.100
None
0
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.100
None
0
Congenital hypoplasia of penis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
237
0.100
None
0
Abnormality of the antihelix
disease
Anatomical Abnormality
17
0.100
None
0
Eczema
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
863
368
0.100
None
0
Abnormality of female external genitalia
disease
Anatomical Abnormality
15
0.100
None
0