Macrocephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
367
10
0.100
None
0
Mild short stature
phenotype
Finding
25
8
0.100
None
0
Profound intellectual disabilities
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
112
10
0.100
None
0
Abnormal heart valve morphology
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Finding
42
1
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Asthma
disease
Respiratory Tract Diseases; Immune System Diseases
Disease or Syndrome
2096
1536
0.100
None
0
Flexion contracture
disease
Musculoskeletal Diseases
Finding
210
32
0.100
None
0
Scaphycephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
43
8
0.100
None
0
Urinary glycosaminoglycan excretion
phenotype
Finding
2
0.100
None
0
Late tooth eruption
phenotype
Finding
139
4
0.100
None
0
Sulfoiduronate Sulfatase Deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
Disease or Syndrome
1
0.300
None
0
Heparan sulfate excretion in urine
phenotype
Finding
7
0.100
None
0
Claw hand
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
63
3
0.100
None
0
Hunter's syndrome, mild form
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
Disease or Syndrome
1
1
0.100
None
0
1
Hunter's syndrome, severe form
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
Disease or Syndrome
1
1
0.100
None
0
1
Thick lower lip vermilion
phenotype
Finding
145
10
0.100
None
0
Tracheobronchomalacia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
Disease or Syndrome
6
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
Diarrhea
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
632
63
0.100
None
0
Abnormality of retinal pigmentation
phenotype
Finding
215
5
0.100
None
0
Congestive heart failure
disease
Cardiovascular Diseases
Disease or Syndrome
1760
165
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.020
None
1.000
2
1983
1986
Near sudden infant death syndrome
phenotype
Sign or Symptom
2
0.010
None
1.000
1
1983
1983
Sleep Apnea Syndromes
disease
Respiratory Tract Diseases; Nervous System Diseases
Disease or Syndrome
148
18
0.010
None
1.000
1
1983
1983
Sudden infant death syndrome
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
140
68
0.090
None
1.000
9
1985
2019