MEIER-GORLIN SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
7
|
0.600 |
None |
1.000 |
8 |
7
|
1996 |
2015 |
Absent glenoid fossa
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Flat glenoid fossa
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Incomplete partition of the cochlea type II
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent sternal ossification
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
HHH syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
21
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Overcurvature of nail
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Microtia, third degree
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of external ear
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Small anterior fontanelle
|
phenotype |
|
Finding
|
11
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hooked clavicle
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of mandible
|
disease |
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
MUNGAN SYNDROME
|
disease |
Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
15
|
6
|
0.070 |
None |
0.857 |
7 |
1
|
2012 |
2019 |
Congenital absence of breast
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Patellar aplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
17
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aplastic clavicle
|
phenotype |
|
Congenital Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Shawl scrotum
|
phenotype |
|
Congenital Abnormality
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Patella aplasia-hypoplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cutaneous finger syndactyly
|
disease |
|
Congenital Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Birth length less than 3rd percentile
|
phenotype |
|
Finding
|
21
|
13
|
0.100 |
None |
|
0 |
|
|
|
Osteochondritis Dissecans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Breech Presentation
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
30
|
11
|
0.100 |
None |
|
0 |
|
|
|
Epispadias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Clitoral hypoplasia
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|