loading...| Preferred Name |
obsolete_Opitz G/BBB syndrome |
| Synonyms |
Opitz-Frias syndrome Opitz syndrome Hypospadias-dysphagia syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypospadias-hypertelorism syndrome |
| Definitions |
Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). |
| ID |
http://www.orpha.net/ORDO/Orphanet_2745 |
| Obsolete |
true |
| database_cross_reference |
ICD10:Q87.8 OMIM:300000 OMIM:145410 |
| definition |
Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). |
| definition_citation |
orphanet |
| deprecated |
true |
| has_exact_synonym |
Opitz-Frias syndrome Opitz syndrome Hypospadias-dysphagia syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypospadias-hypertelorism syndrome |
| label |
obsolete_Opitz G/BBB syndrome |
| obsoleted_in_version |
3.41.0 |
| prefLabel |
obsolete_Opitz G/BBB syndrome |
| reason_for_obsolescence |
Replaced with Mondo term. |
| term replaced by | |
| subClassOf |