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Term:
Opitz GBBB Syndrome, Type I (DOID:9003666)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cleft palate +     
Aase Smith Syndrome 
Abruzzo Erickson Syndrome  
Achromatopsia Incomplete, X-Linked 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agammaglobulinemia, X-Linked, Type 2  
Aicardi syndrome 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia 1 +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, X-Linked, Type V 
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
Aughton Syndrome 
Baetz-Greenwalt syndrome 
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
blepharocheilodontic syndrome +   
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cardiac Valvular Dysplasia, X-Linked  
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
CHILD Syndrome  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Palate with Ankyloglossia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
Coloboma of Macula and Skeletal Anomalies 
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty  
Congenital Alopecia X-Linked 
Congenital Heart Defects, X-Linked +   
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Ptosis, Hereditary 2 
Congenital Symmetric Circumferential Skin Creases +   
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacioskeletal Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Crumpled Helices and Small Mouth 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
Dilated Cardiomyopathy 3A  
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Emanuel Syndrome 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiorenal Syndrome 
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Familial Popliteal Pterygium Syndrome 
favism  
Feingold Trainer Syndrome 
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
Frontonasal Dysplasia 3  
Genito Palato Cardiac Syndrome 
glycogen storage disease VIII 
Gordon Syndrome  
Halal Syndrome 
Hardikar Syndrome 
Hay Wells Syndrome Recessive Type 
Ho Kaufman Mcalister Syndrome 
Hodgkin Disease, X-Linked Pseudoautosomal 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holzgreve-Wagner-Rehder syndrome 
Hydrocephalus with Cerebellar Agenesis 
hypertelorism, microtia, facial clefting syndrome 
Hypertrichosis Congenital Generalized X-Linked 
Hypodontia Oligodontia with Orofacial Cleft 
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypoparathyroidism, X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Idiopathic Short Stature, X-Linked  
Iida Kannari Syndrome 
Intracranial Berry Aneurysm 5 
isolated cleft palate  
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
Keipert Syndrome  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Kniest dysplasia  
Kuster Syndrome 
Ladda Zonana Ramer syndrome 
Larsen syndrome  
Leigh Syndrome, X-Linked  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Linear Skin Defects with Multiple Congenital Anomalies 3  
Liver Glycogenosis, X-Linked, Type II 
Lowry Maclean syndrome 
Macrosomia with Lethal Microphthalmia 
Macular Dystrophy, X-Linked +   
major affective disorder 2 
Martinez Monasterio Pinheiro Syndrome 
McPherson Clemens Syndrome 
Membranoproliferative Glomerulonephritis, X-Linked 
MEND SYNDROME  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microphthalmia, Syndromic 7  
Microtia, Hearing Impairment, and Cleft Palate  
Midline Defects, X-Linked 
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Pterygium Syndrome, X-Linked 
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Native American myopathy  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Oculomaxillofacial Dysostosis  
Oculopalatocerebral Syndrome 
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Opitz GBBB Syndrome, Type II  
Optic Atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2  
Palant Cleft Palate Syndrome 
PARC Syndrome 
Parkinson's Disease 12 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Phosphoglycerate Kinase 1 Deficiency  
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
popliteal pterygium syndrome +   
Premature Ovarian Failure 2a  
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
Properdin Deficiency, X-Linked  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Raine Syndrome  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rosselli-Gulienetti Syndrome 
Russell-Silver Syndrome, X-Linked 
Sakoda Complex 
Samson Viljoen Syndrome 
Say Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Selective Tooth Agenesis with Orofacial Cleft 
Selective Tooth Agenesis, X-Linked, 1  
Seres-Santamaria Arimany Muniz Syndrome 
Severe Congenital Neutropenia, X-Linked  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Spina Bifida, X-Linked 
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylometaphyseal Dysplasia, X-Linked 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytosis, Familial X-Linked 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL/VATER Association with Hydrocephalus  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Vasquez Hurst Sotos Syndrome 
Von Willebrand Disease, X-Linked Form 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-Linked Anemia without Thrombocytopenia 
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked distal spinal muscular atrophy 3  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-Linked Panhypopituitarism  
X-linked recessive disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 
Yim Ebbin Syndrome 
Zadik Barak Levin Syndrome 

Synonyms
Exact Synonyms: BBBG1 ;   GBBB1 ;   OGS1 ;   OS ;   OSX ;   Opitz BBBG syndrome, type I ;   Opitz GBBB syndrome, X-linked ;   Opitz Syndrome ;   Opitz Syndrome, X-Linked ;   Opitz-G syndrome, type I ;   X-linked Opitz syndrome (XLOS)
Primary IDs: MESH:C567932
Alternate IDs: OMIM:300000 ;   RDO:0015775

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.