Terminology Service for NFDI4Health
JSON

Opitz G/BBB syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0017138

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). [ ]

Term info

Label

Opitz G/BBB syndrome

Synonyms
  • Opitz G syndrome
  • Opitz G/BBB syndrome
  • Opitz GBBB syndrome
  • Opitz syndrome
  • Opitz-Frias syndrome
  • Opitz-GBBB syndrome
  • hypertelorism-oesophageal abnormality-hypospadias syndrome
  • hypospadias-dysphagia syndrome
  • hypospadias-hypertelorism syndrome
database cross reference
Subsets

gard_rare, ordo_inheritance_inconsistent, ordo_malformation_syndrome

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2745, https://omim.org/phenotypicSeries/PS300000, http://identifiers.org/snomedct/81771002, http://linkedlifedata.com/resource/umls/id/CN202554, http://purl.obolibrary.org/obo/NCIT_C125487, http://purl.obolibrary.org/obo/DOID_0050780

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

has related synonym

hypospadias-dysphagia, syndrome, hypertelorism hypospadias syndrome, hypertelorism with esophageal abnormality and hypospadias, telecanthus with associated abnormalities, BBB syndrome, G syndrome, Opitz BBBG syndrome, GBBB syndrome, Opitz-G syndrome, type 2

id

MONDO:0017138

narrowMatch

https://icd.codes/icd10cm/Q87.8

see also

https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome