Opitz G/BBB Syndrome

Preferred Label : Opitz G/BBB Syndrome;

NCIt synonyms : Opitz G Syndrome; Opitz GBBB Syndrome; Opitz-G Syndrome;

NCIt definition : An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by ocular hypertelorism, and defects of the larynx, trachea, or esophagus. Most males have hypospadias, cryptorchidism, underdeveloped scrotum, or a scrotum divided into two lobes. Mild intellectual disability and developmental delays occur in approximately half of the affected individuals.;

Details

Origin ID

C125487;

UMLS CUI

C0796179;

Currated CISMeF NLP mapping
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
- Opitz BBB/G syndrome [ICD-11 More detail]
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz GBBB syndrome [ORDO Disease]
- Opitz gbbb syndrome, type II [OMIM Phenotype]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- Opitz-GBBB syndrome [DO Concept]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Hypertelorism Teebi type (disorder) [SNOMED CT concept]
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
- Opitz gbbb syndrome, type II [OMIM Phenotype]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- Teebi hypertelorism syndrome 1 [OMIM Phenotype]
- Teebi syndrome [MeSH concept]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- MID1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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