loading...| Preferred Name | Otopalatodigital syndrome type 2 | |
| Synonyms |
OPD II syndrome OPD syndrome 2 |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_90652 |
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| alternative_term |
OPD II syndrome OPD syndrome 2 |
|
| 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-11:LD25.1 ICD-10:Q87.0 UMLS:C1844696 MeSH:C538089 OMIM:304120 |
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| label |
Otopalatodigital syndrome type 2 |
|
| notation |
ORPHA:90652 |
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| 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_90652 |
|
| prefLabel |
Otopalatodigital syndrome type 2 |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 40.0 (Case) |
|
| 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 |
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| subClassOf |