MASA SYNDROME (disorder)
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
16
13
1.000
definitive
1.000
45
13
1986
2019
Hydrocephalus
disease
Nervous System Diseases
Disease or Syndrome
473
37
0.200
None
1.000
23
1
1994
2020
Hirschsprung Disease
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Disease or Syndrome
384
162
0.200
None
0.917
12
1997
2012
Hypophosphatemic Rickets, X-Linked Dominant
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
Disease or Syndrome
54
122
0.090
None
0.889
9
1
2008
2020
Familial Hypophosphatemic Rickets
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
Disease or Syndrome
43
15
0.090
None
0.889
9
1
2008
2020
Vitamin D-Resistant Rickets, X-Linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
Disease or Syndrome
48
3
0.090
None
0.889
9
1
2008
2020
Spastic Paraplegia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
144
93
0.110
None
1.000
8
10
1994
2010
nervous system disorder
group
Nervous System Diseases
Disease or Syndrome
977
39
0.070
None
1.000
7
1996
2017
Spastic Paraplegia, Hereditary
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
123
41
0.340
strong
1.000
5
1995
2017
Mental Retardation, X-Linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
141
13
0.050
None
1.000
5
1994
2014
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
Disease or Syndrome
1410
80
0.050
None
1.000
5
2009
2019
Aqueductal Stenosis
disease
Nervous System Diseases
Disease or Syndrome
34
2
0.140
None
1.000
4
2001
2019
Alzheimer's Disease
disease
Nervous System Diseases; Mental Disorders
Disease or Syndrome
3397
1843
0.030
None
1.000
3
2019
2019
Nephrogenic Diabetes Insipidus
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
60
41
0.030
None
1.000
3
1993
2014
Fetal Alcohol Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders
Disease or Syndrome
89
8
0.020
None
1.000
2
2001
2013
Henoch-Schoenlein Purpura
disease
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
198
59
0.020
None
1.000
2
2009
2014
Nephrogenic Diabetes Insipidus, Type I
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
24
43
0.020
None
1.000
2
1993
2008
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
1
2
0.700
strong
1.000
2
2
1986
2006
Arthrogryposis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
198
33
0.310
limited
1.000
1
2019
2019
Celiac Disease
disease
Digestive System Diseases; Nutritional and Metabolic Diseases
Disease or Syndrome
527
263
0.010
None
1.000
1
2017
2017
CNS disorder
group
Nervous System Diseases
Disease or Syndrome
319
11
0.010
None
1.000
1
2019
2019
Primary biliary cirrhosis
disease
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Disease or Syndrome
478
667
0.010
None
1.000
1
2018
2018
Craniosynostosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
488
90
0.010
None
1.000
1
2007
2007
×
CUI:
C0010709
Disease:
Cyst
Cyst
disease
Pathological Conditions, Signs and Symptoms; Neoplasms
Disease or Syndrome
221
6
0.010
None
1.000
1
2018
2018
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.010
None
1.000
1
2017
2017