loading...| Preferred Name |
Oculodentodigital Dysplasia |
| Synonyms |
Oculo-Dento-Digital Dysplasia |
| ID |
http://purl.bioontology.org/ontology/MESH/C563160 |
| altLabel |
Oculo-Dento-Digital Dysplasia Oculo-Dento-Osseous Dysplasia Oculodentodigital Syndrome Oculodentoosseous Dysplasia ODD Syndrome Osseous-Oculo-Dental Dysplasia |
| cui |
C0812437 |
| HM |
D019465 D013576 D014071 D005532 D005124 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D005124 http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D014071 |
| MDA |
20121105 |
| MeSH Frequency |
61 |
| MMR |
20150818 |
| notation |
C563160 |
| prefLabel |
Oculodentodigital Dysplasia |
| SC |
3 |
| Scope Statement |
A rare hereditary autosomal dominant condition that affects multiple parts of the body; particularly the face, eyes, teeth, and extremities. Affected individuals often have small eyes (MICROPHTHALMIA), small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features include a thin nose and SYNDACTYLY between the fourth and fifth fingers. HYPOTRICHOSIS, syndactyly of the toes, curvature of fingers, MICROCEPHALY, and CLEFT PALATE may also occur but are less common. Some patients may also experience ATAXIA, MUSCLE SPASTICITY, hearing loss, and speech difficulties. Mutations in the GJA1 gene have been identified. OMIM: 164200 |
| TERMUI |
T802317 T802318 T842179 T842180 T842181 T842178 T825120 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T019 |