loading...| Preferred Name | otopalatodigital syndrome type 1 | |
| Synonyms |
frontootopalatodigital osteodysplasia OPD syndrome otopalatodigital spectrum disorder oto-palato-digital syndrome type 1 otopalatodigital syndrome, type I, X-linked dominant otopalatodigital syndrome, type 1 otopalatodigital syndrome, type I OPD 1 syndrome OPD I syndrome Taybi syndrome OPD syndrome 1 OPD1 |
|
| Definitions |
The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010704 |
|
| database_cross_reference |
ICD9:759.89 NCIT:C118845 UMLS:C0265251 MEDGEN:78542 Orphanet:90650 icd11.foundation:1442049882 SCTID:54036001 OMIM:311300 DOID:0111783 GARD:5121 |
|
| definition |
The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C118845 http://identifiers.org/medgen/78542 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1442049882 http://purl.obolibrary.org/obo/DOID_0111783 http://purl.obolibrary.org/obo/Orphanet_90650 |
|
| has_exact_synonym |
oto-palato-digital syndrome type 1 otopalatodigital syndrome, type I, X-linked dominant otopalatodigital syndrome, type 1 otopalatodigital syndrome, type I OPD 1 syndrome OPD I syndrome Taybi syndrome OPD syndrome 1 OPD1 |
|
| has_related_synonym |
frontootopalatodigital osteodysplasia OPD syndrome otopalatodigital spectrum disorder |
|
| IAO_0000233 | ||
| id |
MONDO:0010704 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
otopalatodigital syndrome type 1 |
|
| notation |
MONDO:0010704 |
|
| preferred label |
otopalatodigital syndrome type 1 |
|
| prefLabel |
otopalatodigital syndrome type 1 |
|
| subClassOf |