| HPO |
HP:0005831 |
Type B brachydactyly |
— |
— |
HP:0001156 |
| HPO |
HP:0005832 |
Dysharmonic delayed bone age |
"A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson] |
— |
HP:0002750, HP:0200000 |
| HPO |
HP:0005833 |
obsolete Joint swelling onset late infancy |
— |
— |
— |
| HPO |
HP:0005834 |
obsolete Thumbs hypo/aplastic |
— |
— |
— |
| HPO |
HP:0005837 |
obsolete Joint dislocations in young adult |
— |
— |
— |
| HPO |
HP:0005841 |
Calcific stippling of infantile cartilaginous skeleton |
— |
— |
HP:0003336 |
| HPO |
HP:0005844 |
Rounded middle phalanx of finger |
"An abnormally round shape of the middle phalanx of the finger." [HPO:probinson] |
— |
HP:0009833 |
| HPO |
HP:0005848 |
obsolete Bifid thumb distal phalanx |
— |
— |
— |
| HPO |
HP:0005849 |
Diffuse cerebral calcification |
"Generalized deposition of calcium salts within the brain." [HPO:probinson] |
— |
HP:0002514 |
| HPO |
HP:0005850 |
Congenital talipes calcaneovalgus |
— |
— |
HP:0001884 |
| HPO |
HP:0005852 |
Limited elbow extension and supination |
— |
— |
HP:0001377 |
| HPO |
HP:0005853 |
Congenital foot contraction deformities |
— |
— |
HP:0002803 |
| HPO |
HP:0005855 |
Multiple prenatal fractures |
"The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators] |
— |
HP:0002659 |
| HPO |
HP:0005856 |
Ulnar radial head dislocation |
"A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction." [HPO:probinson] |
— |
HP:0003083 |
| HPO |
HP:0005857 |
Cervical spina bifida |
— |
— |
HP:0002414 |
| HPO |
HP:0005863 |
Type E brachydactyly |
"In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals." [HPO:probinson] |
— |
HP:0001156 |
| HPO |
HP:0005864 |
Pseudoarthrosis |
"A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [HPO:probinson] |
— |
HP:0011314 |
| HPO |
HP:0005866 |
Opposable triphalangeal thumb |
"A form of triphalangeal thumb that can be placed opposite the fingers of the same hand." [HPO:probinson] |
— |
HP:0001199 |
| HPO |
HP:0005867 |
4-5 metacarpal synostosis |
— |
— |
HP:0009707, HP:0009708 |
| HPO |
HP:0005868 |
Metaphyseal enchondromatosis |
"An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins." [HPO:probinson, PMID:20661403] |
— |
HP:0000944 |
| HPO |
HP:0005871 |
Metaphyseal chondrodysplasia |
"An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." [HPO:probinson, PMID:335375] |
The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. |
HP:0100255 |
| HPO |
HP:0005872 |
Brachytelomesophalangy |
"Disproportionately short middle and distal phalanges compared to the hand/foot." [HPO:probinson] |
— |
HP:0001156 |
| HPO |
HP:0005873 |
Polysyndactyly of hallux |
"Combined syndactyly and polydactyly of the great toe." [HPO:probinson] |
— |
HP:0001841 |
| HPO |
HP:0005875 |
Increased dermatoglyphic whorls |
— |
— |
HP:0001018 |
| HPO |
HP:0005876 |
Progressive flexion contractures |
"Progressively worsening joint contractures." [HPO:probinson] |
— |
HP:0001371 |