Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Opitz_G/BBB_Syndrome> ?p ?o }
- BBB_Syndrome abstract "Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body. The letters G and BBB represent the last names of the families that were first diagnosed with the disorder, while Opitz is the last name of the doctor that first described the signs and symptoms of the disease. There are two different forms of Optiz G/BBB syndrome: x-linked (recessive) syndrome (Type I; XLOS; OSX) and dominant autosomal syndrome (Type II; ADOS). However, both result in common physical deformities, although their pattern of inheritance may differ. Several other names for the disease(s) are no longer used. These include hypospadias-dysphagia syndrome, Opitz-Frias syndrome, telecanthus with associated abnormalities, and hypertelorism-hypospadias syndrome.One out of every 50,000 to 100,000 males is born with X-linked type II Optiz G/BBB syndrome, but professionals believe that condition is under diagnosed and there are actually many more cases. It is unknown as to how many autosomal dominant cases exist. However, the autosomal dominant cases are also categorized under a more commonly diagnosed group called 22q11.2 deletion syndrome. This group includes several other diseases that all result because of a small deletion of chromosome 22 at the q11.2 location.".
- BBB_Syndrome wikiPageExternalLink 837879-overview.
- BBB_Syndrome wikiPageExternalLink opitz-g-bbb-syndrome.
- BBB_Syndrome wikiPageExternalLink carddisp.pl?gene=SPECC1L.
- BBB_Syndrome wikiPageExternalLink exonarraydx-deldup-testing.
- BBB_Syndrome wikiPageExternalLink Opitz%20GBBB%20Syndrome.
- BBB_Syndrome wikiPageExternalLink 489956_8.
- BBB_Syndrome wikiPageExternalLink NX_Q69YQ0.
- BBB_Syndrome wikiPageExternalLink 002925.htm.
- BBB_Syndrome wikiPageExternalLink 003057.htm.
- BBB_Syndrome wikiPageExternalLink 003301.htm.
- BBB_Syndrome wikiPageExternalLink complic.htm.
- BBB_Syndrome wikiPageExternalLink psychoemotional.
- BBB_Syndrome wikiPageID "47361842".
- BBB_Syndrome wikiPageLength "15826".
- BBB_Syndrome wikiPageOutDegree "86".
- BBB_Syndrome wikiPageRevisionID "673686804".
- BBB_Syndrome wikiPageWikiLink 22q11.2_deletion_syndrome.
- BBB_Syndrome wikiPageWikiLink Abnormalities.
- BBB_Syndrome wikiPageWikiLink Aspiration_pneumonia.
- BBB_Syndrome wikiPageWikiLink Autism_spectrum.
- BBB_Syndrome wikiPageWikiLink Autistic_spectrum.
- BBB_Syndrome wikiPageWikiLink Autosomal.
- BBB_Syndrome wikiPageWikiLink Autosome.
- BBB_Syndrome wikiPageWikiLink Brain.
- BBB_Syndrome wikiPageWikiLink Cardiologist.
- BBB_Syndrome wikiPageWikiLink Cardiology.
- BBB_Syndrome wikiPageWikiLink Cardiovascular_system.
- BBB_Syndrome wikiPageWikiLink Cell_division.
- BBB_Syndrome wikiPageWikiLink Chest_radiograph.
- BBB_Syndrome wikiPageWikiLink Chest_x-ray.
- BBB_Syndrome wikiPageWikiLink Chromosome_22.
- BBB_Syndrome wikiPageWikiLink Chromosome_22_(human).
- BBB_Syndrome wikiPageWikiLink Circulatory_system.
- BBB_Syndrome wikiPageWikiLink Cleft_lip.
- BBB_Syndrome wikiPageWikiLink palate.
- BBB_Syndrome wikiPageWikiLink Cleft_lip_and_palate.
- BBB_Syndrome wikiPageWikiLink Cleft_palate.
- BBB_Syndrome wikiPageWikiLink Congenital_anomaly.
- BBB_Syndrome wikiPageWikiLink Congenital_disorder.
- BBB_Syndrome wikiPageWikiLink Congenital_heart_defect.
- BBB_Syndrome wikiPageWikiLink Congenital_heart_defects.
- BBB_Syndrome wikiPageWikiLink Corpus_callosum.
- BBB_Syndrome wikiPageWikiLink Craniofacial_surgeon.
- BBB_Syndrome wikiPageWikiLink Craniofacial_surgery.
- BBB_Syndrome wikiPageWikiLink Cryptorchidism.
- BBB_Syndrome wikiPageWikiLink Cytoskeleton.
- BBB_Syndrome wikiPageWikiLink DNA.
- BBB_Syndrome wikiPageWikiLink Deformities.
- BBB_Syndrome wikiPageWikiLink Deformity.
- BBB_Syndrome wikiPageWikiLink Developmental_delay.
- BBB_Syndrome wikiPageWikiLink DiGeorge_syndrome.
- BBB_Syndrome wikiPageWikiLink Diagnosed.
- BBB_Syndrome wikiPageWikiLink Diagnosis.
- BBB_Syndrome wikiPageWikiLink Digestive_system.
- BBB_Syndrome wikiPageWikiLink Dominance_(genetics).
- BBB_Syndrome wikiPageWikiLink Echocardiogram.
- BBB_Syndrome wikiPageWikiLink Echocardiography.
- BBB_Syndrome wikiPageWikiLink Esophagus.
- BBB_Syndrome wikiPageWikiLink Exon.
- BBB_Syndrome wikiPageWikiLink Exons.
- BBB_Syndrome wikiPageWikiLink Eye_evaluation.
- BBB_Syndrome wikiPageWikiLink Eye_examination.
- BBB_Syndrome wikiPageWikiLink Family_planning.
- BBB_Syndrome wikiPageWikiLink Genetic_counseling.
- BBB_Syndrome wikiPageWikiLink Genetic_disorder.
- BBB_Syndrome wikiPageWikiLink Genetic_mutations.
- BBB_Syndrome wikiPageWikiLink Genetic_testing.
- BBB_Syndrome wikiPageWikiLink Geneticist.
- BBB_Syndrome wikiPageWikiLink Genitourinary.
- BBB_Syndrome wikiPageWikiLink Genitourinary_system.
- BBB_Syndrome wikiPageWikiLink Heart_defects.
- BBB_Syndrome wikiPageWikiLink Human_digestive_system.
- BBB_Syndrome wikiPageWikiLink Hypertelorism.
- BBB_Syndrome wikiPageWikiLink Hypospadias.
- BBB_Syndrome wikiPageWikiLink Imperforate_anus.
- BBB_Syndrome wikiPageWikiLink Inheritance.
- BBB_Syndrome wikiPageWikiLink Intellectual_disability.
- BBB_Syndrome wikiPageWikiLink Laryngeal_cleft.
- BBB_Syndrome wikiPageWikiLink Laryngoscopy.
- BBB_Syndrome wikiPageWikiLink Larynx.
- BBB_Syndrome wikiPageWikiLink Lethality.
- BBB_Syndrome wikiPageWikiLink Life-threatening.
- BBB_Syndrome wikiPageWikiLink MID1.
- BBB_Syndrome wikiPageWikiLink Medical_ultrasound.
- BBB_Syndrome wikiPageWikiLink Molecular.
- BBB_Syndrome wikiPageWikiLink Molecule.
- BBB_Syndrome wikiPageWikiLink Motor_skill.
- BBB_Syndrome wikiPageWikiLink Motor_skills.
- BBB_Syndrome wikiPageWikiLink Mutation.
- BBB_Syndrome wikiPageWikiLink Nervous_system.
- BBB_Syndrome wikiPageWikiLink Ocular_hypertelorism.
- BBB_Syndrome wikiPageWikiLink Ophthalmologist.
- BBB_Syndrome wikiPageWikiLink Ophthalmology.
- BBB_Syndrome wikiPageWikiLink Opitz.
- BBB_Syndrome wikiPageWikiLink Palate.
- BBB_Syndrome wikiPageWikiLink Pediatrician.
- BBB_Syndrome wikiPageWikiLink Pediatrics.
- BBB_Syndrome wikiPageWikiLink Pneumonia.
- BBB_Syndrome wikiPageWikiLink Prenatal.