HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
|
disease |
|
Congenital Abnormality
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tetraamelia multiple malformations
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.300 |
None |
|
0 |
|
|
|
Tetra-amelia autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alopecia, Androgenetic, 2
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Alopecia, Androgenetic, 3
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Androgenetic Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
112
|
107
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Alopecia, Androgenetic, 1
|
disease |
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Other alopecia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
104
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Alopecia, Male Pattern
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
91
|
743
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Abnormal lung lobation
|
disease |
Respiratory Tract Diseases
|
Congenital Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Short clavicle
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Atresia of vagina
|
disease |
|
Congenital Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of rib
|
phenotype |
|
Congenital Abnormality
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of clavicle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.100 |
None |
|
0 |
|
|
|
Thumb absent
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Glossoptosis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|