Woodhouse Sakati syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
11
|
0.800 |
None |
1.000 |
13 |
11
|
2008 |
2020 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.130 |
None |
1.000 |
4 |
1
|
2008 |
2019 |
Weaver syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
13
|
0.030 |
None |
0.667 |
3 |
|
2010 |
2014 |
Wrinkly skin syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
1
|
0.030 |
None |
0.667 |
3 |
|
2010 |
2014 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.110 |
None |
1.000 |
2 |
1
|
2008 |
2016 |
Neurodegeneration with brain iron accumulation (NBIA)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2016 |
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
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 |
|
2014 |
2014 |
Subfertility, Female
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
33
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MOHR-TRANEBJAERG SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
89
|
19
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal sperm development
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Congenital hypotrichia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
19
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Hallucinations
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
178
|
18
|
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 |
|
|
|
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
|
0 |
|
|
|
Hyperlipidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
472
|
83
|
0.100 |
None |
|
0 |
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
|
0 |
|
|
|
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.100 |
None |
|
0 |
|
|
|
Mild Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
340
|
56
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.100 |
None |
|
0 |
|
|
|
Streak ovary
|
disease |
|
Congenital Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Infantile uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
43
|
|
0.100 |
None |
|
0 |
|
|
|