Hypoplasia of the lacrimal punctum
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral triphalangeal thumbs
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of toe
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of femur morphology
|
disease |
|
Anatomical Abnormality
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Camptodactyly of toe
|
disease |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metacarpal bones
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
40
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the clavicle
|
disease |
|
Anatomical Abnormality
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Fibular bowing
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of the parotid gland
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Radial deviation of the 3rd finger
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Excessive wrinkled skin
|
phenotype |
|
Anatomical Abnormality
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Thimble-shaped middle phalanges of hand
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sacrum morphology
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Partial duplication of thumb phalanx
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
1.000 |
definitive |
0.974 |
152 |
12
|
1994 |
2020 |
Hypochondroplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
16
|
42
|
0.800 |
None |
0.972 |
72 |
23
|
1995 |
2020 |
Thanatophoric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
12
|
10
|
0.600 |
None |
1.000 |
66 |
9
|
1995 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.200 |
None |
1.000 |
42 |
10
|
1994 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
34 |
1
|
1985 |
2016 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.200 |
None |
1.000 |
21 |
5
|
1999 |
2018 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.100 |
None |
1.000 |
19 |
|
1995 |
2019 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
9
|
0.800 |
None |
1.000 |
15 |
9
|
1996 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.080 |
None |
1.000 |
8 |
2
|
1996 |
2018 |