|
1
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0005736)
|
Short tibia |
hallmark [HPO]
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0003982)
|
Absent ulna |
hallmark [HPO]
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
7
|
(HPO:0005792)
|
Short humerus |
hallmark [HPO]
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
9
|
(HPO:0004050)
|
Absent hand |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0003974)
|
Absent radius |
hallmark [HPO]
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0002990)
|
Fibular aplasia |
hallmark [HPO]
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0004231)
|
Carpal bone aplasia |
hallmark [HPO]
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0005632)
|
Absent forearm |
hallmark [HPO]
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0009802)
|
Aplasia of the phalanges of the hand |
hallmark [HPO]
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0009820)
|
Lower limb peromelia |
hallmark [HPO]
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0010048)
|
Aplasia of metacarpal bones |
hallmark [HPO]
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0010509)
|
Aplasia of the tarsal bones |
hallmark [HPO]
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0010744)
|
Absent metatarsal bone |
hallmark [HPO]
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0010760)
|
Absent toe |
hallmark [HPO]
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
|
23
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
24
|
(HPO:0009827)
|
Amelia |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
|
26
|
(OMIM)
|
Congenital quadruple amputation of upper and lower extremities |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Complete amputation of distal humeral epiphyses |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Ulnar aplasia |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Bohomoletz bone (ectopic bone at distal end of humerus) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Amputation of distal tibial diaphyses |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Carpal aplasia |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Metacarpal aplasia |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Phalangeal aplasia |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0011301)
|
Absent foot |
|
|
|
|
4 / 7739
|
|
35
|
(OMIM)
|
Tarsal aplasia |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Metatarsal aplasia |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|