| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.9%) |
8074146 |
Spondyloepimetaphyseal dysplasia (SEMD) Shohat type. Figuera LE, Ramirez-Duenas ML, Gallegos-Arreola MP, Cantu JM. Am J Med Genet. 1994;51(3):213-5. |
| Short neck Short long bone Fibular overgrowth | ||
| Child, Preschool Dwarfism Fibula Genes, Recessive Homo sapiens Hypertrophy Joint Instability Lordosis Male Osteochondrodysplasias |
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000233 | Thin vermilion border | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | Very frequent (99-80%) |
| HP:0002938 | Lumbar hyperlordosis | Very frequent (99-80%) |
| HP:0002970 | Genu varum | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003016 | Metaphyseal widening | Very frequent (99-80%) |
| HP:0003097 | Short femur | Very frequent (99-80%) |
| HP:0003180 | Flat acetabular roof | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0010656 | Abnormal epiphyseal ossification | Very frequent (99-80%) |
| HP:0100866 | Short iliac bones | Very frequent (99-80%) |
| HP:0000311 | Round face | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0003270 | Abdominal distention | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0002645 | Wormian bones | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |