| HPO |
HP:0004987 |
Mesomelic leg shortening |
"Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken] |
— |
HP:0003027 |
| HPO |
HP:0004990 |
Epiphyseal streaking |
— |
— |
HP:0005930 |
| HPO |
HP:0004991 |
Rhizomelic arm shortening |
"Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [HPO:probinson] |
— |
HP:0008905 |
| HPO |
HP:0004993 |
Slender long bones with narrow diaphyses |
"Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [HPO:probinson] |
— |
HP:0000940, HP:0003100 |
| HPO |
HP:0004997 |
Multicentric ossification of proximal humeral epiphyses |
— |
— |
HP:0003897 |
| HPO |
HP:0005001 |
Recurrent patellar dislocation |
"Patellar dislocation occurring repeated times." [HPO:curators] |
— |
HP:0002999, HP:0031869 |
| HPO |
HP:0005003 |
Aplasia/Hypoplasia of the capital femoral epiphysis |
"Absence or underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] |
— |
HP:0010574, HP:0010577 |
| HPO |
HP:0005004 |
Flattened proximal radial epiphyses |
"An abnormally flat form of the proximal epiphysis of the radius." [HPO:curators] |
— |
HP:0004002, HP:0010597 |
| HPO |
HP:0005005 |
Femoral bowing present at birth, straightening with time |
"Congenital onset bending or abnormal curvature of the femur that normalizes with age." [HPO:probinson] |
This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. |
HP:0002980 |
| HPO |
HP:0005008 |
Large joint dislocations |
— |
— |
HP:0001373 |
| HPO |
HP:0005009 |
Dumbbell-shaped humerus |
"The humerus is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] |
— |
HP:0000947 |
| HPO |
HP:0005010 |
Osteomyelitis leading to amputation due to slow healing fractures |
— |
— |
HP:0002754 |
| HPO |
HP:0005011 |
Mesomelic arm shortening |
"Shortening of the middle parts of the arm in relation to the upper and terminal segments." [HPO:sdoelken] |
— |
HP:0003027 |
| HPO |
HP:0005013 |
Dysplastic distal radial epiphyses |
"Abnormally developed (dysplastic) distal epiphysis of the radius." [HPO:curators] |
— |
HP:0010597 |
| HPO |
HP:0005017 |
Polyarticular chondrocalcinosis |
— |
— |
HP:0000934 |
| HPO |
HP:0005019 |
Diaphyseal thickening |
— |
— |
HP:0000940 |
| HPO |
HP:0005021 |
Bilateral elbow dislocations |
— |
— |
HP:0003042 |
| HPO |
HP:0005025 |
Hypoplastic distal humeri |
"Underdevelopment of the distal portion of the humerus." [HPO:probinson] |
— |
HP:0006507 |
| HPO |
HP:0005026 |
Mesomelic/rhizomelic limb shortening |
— |
— |
HP:0008905 |
| HPO |
HP:0005028 |
Widened proximal tibial metaphyses |
— |
— |
HP:0003016 |
| HPO |
HP:0005033 |
Distal ulnar hypoplasia |
"Underdevelopment of the distal portion of the ulna." [HPO:probinson] |
— |
HP:0003022 |
| HPO |
HP:0005035 |
Shortening of all phalanges of the toes |
"Developmental hypoplasia (shortening) of all phalanges of the foot." [HPO:probinson] |
— |
HP:0001831, HP:0010161 |
| HPO |
HP:0005036 |
Unilateral ulnar hypoplasia |
"Underdevelopment of the ulna on only one side." [HPO:probinson] |
— |
HP:0003022 |
| HPO |
HP:0005037 |
Proximal radio-ulnar synostosis |
"An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators] |
— |
HP:0002974 |
| HPO |
HP:0005039 |
Multiple long-bone exostoses |
"Multiple exostoses originating in long bones." [HPO:probinson] |
— |
HP:0002762 |