loading...| Preferred Name | Otopalatodigital syndrome type 1 | |
| Synonyms |
OPD syndrome 1 Taybi syndrome OPD I syndrome |
|
| Definitions |
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_90650 |
|
| alternative_term |
OPD syndrome 1 Taybi syndrome OPD I syndrome |
|
| definition |
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90650 |
|
| hasDbXref |
ICD-11:LD25.1 ICD-10:Q87.0 MeSH:C536065 UMLS:C0265251 OMIM:311300 |
|
| label |
Otopalatodigital syndrome type 1 |
|
| notation |
ORPHA:90650 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_156237 http://www.orpha.net/ORDO/Orphanet_364541 |
|
| prefixIRI |
ORDO:Orphanet_90650 |
|
| prefLabel |
Otopalatodigital syndrome type 1 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_156237 http://www.orpha.net/ORDO/Orphanet_364541 |
|
| subClassOf |