loading...| Preferred Name |
Odonto-onycho-dermal dysplasia |
| ID |
http://www.orpha.net/ORDO/Orphanet_2721 |
| alternative_term |
OODD |
| definition |
A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 |
| has_age_of_onset |
Childhood |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
UMLS:C0796093 ICD-11:LD27.0Y ICD-10:Q82.4 MeSH:C537742 OMIM:257980 |
| label |
Odonto-onycho-dermal dysplasia |
| notation |
ORPHA:2721 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_183580 http://www.orpha.net/ORDO/Orphanet_139042 |
| prefixIRI |
ORDO:Orphanet_2721 |
| prefLabel |
Odonto-onycho-dermal dysplasia |
| present_in |
Worldwide AND has_cases/families_value : 30.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_183580 http://www.orpha.net/ORDO/Orphanet_139042 |
| subClassOf |