loading...| Preferred Name |
Otopalatodigital syndrome type 2 |
| ID |
http://www.orpha.net/ORDO/Orphanet_90652 |
| alternative_term |
OPD syndrome 2 OPD II syndrome |
| definition |
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
X-linked dominant |
| hasDbXref |
ICD-10:Q87.0 UMLS:C1844696 ICD-11:LD25.1 OMIM:304120 MeSH:C538089 |
| label |
Otopalatodigital syndrome type 2 |
| notation |
ORPHA:90652 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_364541 |
| prefixIRI |
ORDO:Orphanet_90652 |
| prefLabel |
Otopalatodigital syndrome type 2 |
| present_in |
Worldwide AND has_cases/families_value : 40.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_139042 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_364541 |
| subClassOf |