Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
Hirsutism
phenotype
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Finding
88
17
0.100
None
0
1
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Episodic tachypnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Finding
31
1
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
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
1
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Tremor
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
528
52
0.100
None
0
Ataxia, Truncal
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
68
13
0.100
None
0
Gait abnormality
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
312
23
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Renal cyst
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
170
17
0.100
None
0
Oculomotor apraxia
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
Disease or Syndrome
92
14
0.100
None
0
Visual Impairment
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
422
0.100
None
0
Abnormal vision
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
115
6
0.100
None
0
Unspecified visual loss
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases
Sign or Symptom
235
11
0.100
None
0
Congenital cerebral hernia
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
93
6
0.100
None
0
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
0.100
None
0
Hypoplasia of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
385
49
0.100
None
0
Simple renal cyst
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
100
2
0.100
None
0
Meckel syndrome type 1
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
53
38
0.010
None
1.000
1
2016
2016
Congenital omphalocele
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
85
13
0.100
None
0
Ptosis
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
607
12
0.100
None
0
Coarse facial features
phenotype
Pathological Conditions, Signs and Symptoms
Finding
194
33
0.100
None
0