Familial aplasia of the vermis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
Disease or Syndrome
95
187
0.670
None
1.000
8
2
2015
2019
JOUBERT SYNDROME 23
disease
Disease or Syndrome
1
21
0.610
None
1.000
9
21
2015
2017
Polydactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
188
43
0.510
None
1.000
3
2004
2015
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
disease
Disease or Syndrome
1
12
0.400
None
1.000
7
12
2015
2017
Short Rib-Polydactyly Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
21
13
0.320
None
1.000
2
2015
2015
Joubert syndrome 1
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
Disease or Syndrome
26
31
0.300
None
1.000
1
2015
2015
Craniofacial Abnormalities
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
234
4
0.300
None
1.000
1
2004
2004
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases
Disease or Syndrome
3
2
0.300
None
1.000
1
2015
2015
JOUBERT SYNDROME 17
disease
Disease or Syndrome
5
65
0.300
strong
1.000
1
2015
2015
Saldino-Noonan Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
16
108
0.300
None
0
Majewski Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Disease or Syndrome
20
31
0.300
None
0
Jeune thoracic dystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Disease or Syndrome
29
116
0.110
None
1.000
1
1
2015
2015
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
1.000
1
1
2016
2016
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
1.000
1
1
2016
2016
Episodic tachypnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Finding
31
1
0.100
None
1.000
1
1
2016
2016
Molar tooth sign on MRI
phenotype
Finding
35
7
0.100
None
1.000
1
1
2016
2016
Cone-shaped epiphysis
phenotype
Finding
49
2
0.100
None
0
Prominent nasal bridge
phenotype
Finding
180
8
0.100
None
0
Aplasia/Hypoplasia of the corpus callosum
phenotype
Finding
108
8
0.100
None
0
Biparietal narrowing
phenotype
Finding
60
0.100
None
0
Absent speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
232
72
0.100
None
0
Twelfth rib hypoplasia
phenotype
Finding
2
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Short long bone
phenotype
Finding
42
19
0.100
None
0
1
Dilation of lateral ventricles
phenotype
Finding
23
3
0.100
None
0