loading...| Preferred Name |
Oculodentodigital dysplasia |
|
| Synonyms |
Oculodentoosseous dysplasia |
|
| Definitions |
A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2710 |
|
| alternative_term |
Oculodentoosseous dysplasia ODDD syndrome Meyer-Schwickerath syndrome |
|
| definition |
A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
UMLS:C0812437 MedDRA:10063691 ICD-10:Q87.8 OMIM:164200 ICD-11:LD27.0Y OMIM:257850 MeSH:C563160 |
|
| label |
Oculodentodigital dysplasia |
|
| notation |
ORPHA:2710 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_183580 http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_79373 |
|
| prefixIRI |
ORDO:Orphanet_2710 |
|
| prefLabel |
Oculodentodigital dysplasia |
|
| present_in |
Worldwide AND has_cases/families_value : 243.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_183580 http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_568047 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_79373 |
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| subClassOf |