MEIER-GORLIN SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.600 |
None |
1.000 |
4 |
7
|
1994 |
2015 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
12
|
0.540 |
None |
1.000 |
6 |
|
2011 |
2017 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.400 |
strong |
1.000 |
1 |
|
1994 |
1994 |
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
High, narrow palate
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Microretrognathia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Finding
|
53
|
6
|
0.100 |
None |
|
0 |
|
|
|
Thick lower lip vermilion
|
phenotype |
|
Finding
|
145
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Slender long bone
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
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 |
|
|
|
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|
Clitoral hypoplasia
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic labia minora
|
phenotype |
|
Finding
|
30
|
1
|
0.100 |
None |
|
0 |
|
|
|
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of epiphysis morphology
|
phenotype |
|
Anatomical Abnormality
|
86
|
|
0.100 |
None |
|
0 |
|
|
|