Hypertrichosis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
92
27
0.100
None
0
Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
Respiratory Failure
disease
Respiratory Tract Diseases
Disease or Syndrome
319
23
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Central hypoventilation
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Finding
16
1
0.100
None
0
Sensorineural Hearing Loss (disorder)
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
783
111
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Severe intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
429
74
0.100
None
0
Lethargy
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
Sign or Symptom
160
6
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
1.000
9
1
2000
2016
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
Dystonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
453
97
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Hyperreflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
539
19
0.100
None
0
Cerebellar Dysmetria
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
127
17
0.100
None
0
Progressive spastic paraplegia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
59
1
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Carcinogenesis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6243
355
0.010
None
1.000
1
2005
2005
Poor head control
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
162
13
0.100
None
0
Ophthalmoplegia
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Sign or Symptom
216
12
0.100
None
0
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.100
None
0
Hepatomegaly
phenotype
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Finding
523
30
0.100
None
0
Progressive cerebellar ataxia
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
136
23
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