loading...| Preferred Name |
Opitz GBBB syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2745 |
| alternative_term |
Opitz G/BBB syndrome Hypospadias-dysphagia syndrome Hypertelorism-hypospadias syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Opitz BBB/G syndrome Opitz-Frias syndrome Opitz BBBG syndrome |
| definition |
A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 |
| has_age_of_onset |
Antenatal Neonatal Infancy |
| has_inheritance |
X-linked recessive Autosomal dominant |
| hasDbXref |
OMIM:300000 ICD-10:Q87.8 |
| label |
Opitz GBBB syndrome |
| notation |
ORPHA:2745 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98575 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_117573 |
| prefixIRI |
ORDO:Orphanet_2745 |
| prefLabel |
Opitz GBBB syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98575 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_117573 |
| subClassOf |