CRANIOECTODERMAL DYSPLASIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
12
|
0.730 |
None |
1.000 |
10 |
10
|
2009 |
2018 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.400 |
None |
1.000 |
1 |
|
2010 |
2010 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.400 |
None |
1.000 |
1 |
|
2010 |
2010 |
Camurati-Engelmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
10
|
0.320 |
strong |
1.000 |
3 |
|
2000 |
2018 |
Short rib-polydactyly syndrome, Beemer type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
8
|
0.310 |
None |
1.000 |
1 |
|
2017 |
2017 |
Synostotic Anterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Obstructive Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hydrocephalus Ex-Vacuo
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Aqueductal Stenosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
2
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Curvature of spine
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Synostotic Posterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Fetal Cerebral Ventriculomegaly
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Communicating Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
59
|
402
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Edema, Cardiac
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Craniosynostosis, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
28
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |