Generalized hirsutism
phenotype
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Finding
113
3
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
Obesity
disease
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
Disease or Syndrome
2821
1111
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
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.110
None
1.000
1
2007
2007
Neurologic Symptoms
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
233
30
0.010
None
1.000
1
2007
2007
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
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Speech Disorders
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
183
7
0.100
None
0
Tremor
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
528
52
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
Polyuria
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Sign or Symptom
73
3
0.100
None
0
Apraxia, oculomotor, Cogan type
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
Congenital Abnormality
10
2
0.010
None
1.000
1
2000
2000
Oculomotor apraxia
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
Disease or Syndrome
92
14
0.110
None
1.000
1
2000
2000
Diverticulum
phenotype
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Anatomical Abnormality
12
0.010
None
1.000
1
2018
2018
Fibrosis, Liver
disease
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Disease or Syndrome
1179
64
0.100
None
0
Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
505
98
0.010
None
1.000
1
2007
2007
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
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
0.020
None
1.000
2
2007
2012
Johanson-Blizzard syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
Disease or Syndrome
7
9
0.010
None
1.000
1
2008
2008
Hepatic Fibrosis, Congenital
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Disease or Syndrome
63
2
0.100
None
0
Deformity
group
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Anatomical Abnormality
350
26
0.020
None
1.000
2
1999
2006