SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
9
|
0.700 |
strong |
1.000 |
4 |
9
|
1996 |
2016 |
Bent bone dysplasia
|
disease |
|
Disease or Syndrome
|
1
|
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2016 |
Cervical Mesonephric Adenocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Estrogen Receptor Status - Clinical Trial Eligibility Criteria
|
phenotype |
|
Clinical Attribute
|
1
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Cervical Keratinizing Squamous Cell Carcinoma
|
disease |
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
|
disease |
|
Finding
|
1
|
1
|
0.400 |
strong |
1.000 |
1 |
1
|
2016 |
2016 |
Exophthalmos, bilateral
|
phenotype |
|
Sign or Symptom
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Familial scaphocephaly syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Incomplete ossification of pubis
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent scrotal raphe
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Preauricular skin furrow
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal morphology of the limbic system
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Acrobrachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Broad distal hallux
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Deviation of the thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
PFEIFFER SYNDROME VARIANT
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
PFEIFFER SYNDROME, TYPE III
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Metopic depression
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Mild fetal ventriculomegaly
|
disease |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the zygomatic bone
|
phenotype |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the periosteum
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
16
|
0.970 |
None |
1.000 |
37 |
14
|
1994 |
2017 |
Apert-Crouzon Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
4 |
|
1997 |
2009 |