Connective Tissue Diseases
group
Skin and Connective Tissue Diseases
Disease or Syndrome
188
24
0.300
moderate
1.000
1
2014
2014
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Disease or Syndrome
15
3
0.740
strong
1.000
5
3
2014
2019
Oculomelic amyoplasia
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
4
11
0.750
strong
1.000
5
11
2013
2019
Multiple congenital anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
251
350
0.100
None
1.000
9
1
2007
2017
Dysmorphic features
disease
Congenital Abnormality
439
617
0.100
None
1.000
9
3
2007
2017
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.070
None
1.000
7
2017
2019
Distal arthrogryposis syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
22
15
0.170
None
1.000
7
1
2013
2019
Arthrogryposis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
198
33
0.130
None
1.000
5
2
2017
2020
Mechanical pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
30
4
0.040
None
1.000
4
2018
2019
Pseudohypoaldosteronism, Type II
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
27
42
0.040
None
1.000
4
2014
2019
MARDEN-WALKER SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Disease or Syndrome
8
2
0.740
None
1.000
4
1
2014
2019
Scoliosis, unspecified
disease
Musculoskeletal Diseases
Disease or Syndrome
850
135
0.130
None
1.000
3
2017
2020
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.020
None
1.000
2
2018
2019
Perinatal respiratory distress
disease
Disease or Syndrome
1
0.020
None
1.000
2
2016
2017
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.020
None
1.000
2
2016
2018
Mechanical Allodynia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
408
4
0.020
None
1.000
2
2012
2018
Early severe fetal akinesia sequence
phenotype
Finding
12
15
0.100
None
1.000
2
2
2017
2020
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.020
None
1.000
2
2018
2019
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
disease
Disease or Syndrome
1
11
0.600
None
1.000
2
11
2016
2017
Chest pain on breathing
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1
0.010
None
1.000
1
2019
2019
Paresis
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
216
49
0.010
None
1.000
1
2017
2017
Bladder Neoplasm
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2130
281
0.010
None
1.000
1
2018
2018
Malignant Neoplasms
group
Neoplasms
Neoplastic Process
8621
1641
0.010
None
1.000
1
2019
2019
ARTHROGRYPOSIS, DISTAL, TYPE 2B
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
25
6
0.300
None
1.000
1
2013
2013
Merkel cell carcinoma
disease
Neoplasms; Infections
Neoplastic Process
226
10
0.010
None
1.000
1
2019
2019