| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
7573138 |
Autosomal dominant osteosclerosis type Stanescu: the third family. Horovitz DD, Barbosa Neto JG, Boy R, Vargas FR, Llerena Junior JC, de Almeida JC. Am J Med Genet. 1995;57(4):605-9. |
| Wormian bones | ||
| Adult Child Females Homo sapiens Infant Male Osteosclerosis Phenotype |
Total: 36
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000158 | Macroglossia | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000174 | Abnormal palate morphology | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000446 | Narrow nasal bridge | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000682 | Abnormality of dental enamel | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0000929 | Abnormal skull morphology | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0002514 | Cerebral calcification | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004474 | Persistent open anterior fontanelle | Very frequent (99-80%) |
| HP:0005105 | Abnormal nasal morphology | Very frequent (99-80%) |
| HP:0005665 | Massively thickened long bone cortices | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0011001 | Increased bone mineral density | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000670 | Carious teeth | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0009804 | Reduced number of teeth | Frequent (79-30%) |
| HP:0000444 | Convex nasal ridge | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000944 | Abnormality of the metaphysis | Occasional (29-5%) |
| HP:0002645 | Wormian bones | Occasional (29-5%) |
| HP:0005930 | Abnormality of epiphysis morphology | Occasional (29-5%) |
| HP:0100777 | Exostoses | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|