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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cleft palate +     
Hypertelorism +     
hypospadias +     
Telecanthus +     
Aase Smith Syndrome 
acrocardiofacial syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acrootoocular Syndrome 
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Anal Atresia, Hypospadias, and Penoscrotal Inversion  
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Au-Kline Syndrome  
Aughton Syndrome 
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
Baetz-Greenwalt Syndrome 
Bagatelle Cassidy Syndrome 
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Barber-Say syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
blepharocheilodontic syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly Syndrome Guadalajara Type 3 
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
chromosome 6pter-p24 deletion syndrome 
CK syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Palate with Ankyloglossia  
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
Coloboma of Macula and Skeletal Anomalies 
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Craniosynostosis Mental Retardation Clefting Syndrome 
Crumpled Helices and Small Mouth 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome  
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Diamond-Blackfan Anemia with Microtia and Cleft Palate 
distal arthrogryposis type 3  
Duchenne muscular dystrophy +   
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
ectodermal dysplasia 1 +   
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Emanuel Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiorenal Syndrome 
factor VIII deficiency +   
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Fanconi anemia complementation group B  
Feingold Trainer Syndrome 
FG syndrome +   
frontometaphyseal dysplasia 1  
frontonasal dysplasia 1  
frontonasal dysplasia 2  
frontonasal dysplasia 3  
Galloway-Mowat syndrome 2  
Gastrocutaneous Syndrome 
Genito Palato Cardiac Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
glycogen storage disease IXA  
glycogen storage disease IXD  
glycogen storage disease VIII  
Guttmacher syndrome  
Halal Syndrome 
Hamamy Syndrome  
Hardikar Syndrome  
Hay Wells Syndrome Recessive Type 
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly 13, X-linked  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holzgreve-Wagner-Rehder syndrome 
HRPT-related hyperuricemia  
hyperphosphatasia with impaired intellectual development syndrome 1  
Hypertelorism and Tetralogy of Fallot  
hypertelorism, microtia, facial clefting syndrome 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypodontia Oligodontia with Orofacial Cleft 
hypogonadotropic hypogonadism 1 with or without anosmia  
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypospadias 3, Autosomal 
Hypospadias 4 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Hypospadias-Mental Retardation Syndrome 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
Iida Kannari Syndrome 
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
isolated cleft palate  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome  
Keipert syndrome  
Kennedy's disease  
Kniest dysplasia  
Krauss Herman Holmes Syndrome 
Kuster Syndrome 
Ladda Zonana Ramer Syndrome 
Larsen syndrome  
Lesch-Nyhan syndrome +   
Lowry Maclean syndrome 
Macrosomia with Lethal Microphthalmia 
Marles Greenberg Persaud Syndrome  
Martinez Monasterio Pinheiro Syndrome 
MASA syndrome  
McPherson Clemens Syndrome 
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microtia, Hearing Impairment, and Cleft Palate  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mullegama-Klein-Martinez syndrome  
multiple benign circumferential skin creases on limbs +   
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Naguib-Richieri-Costa Syndrome 
Native American myopathy  
nephrogenic syndrome of inappropriate antidiuresis  
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82 
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92 
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB syndrome  
A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
Palant Cleft Palate Syndrome 
PARC Syndrome 
partial androgen insensitivity syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
Periventricular Nodular Heterotopia 7  
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
popliteal pterygium syndrome +   
Prieto syndrome  
primary ovarian insufficiency 2B  
Pseudovaginal Perineoscrotal Hypospadias  
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radius Absent Anogenital Anomalies 
Raine Syndrome  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Rosselli-Gulienetti Syndrome 
Sakoda Complex 
Samson Viljoen Syndrome 
Santos Mateus Leal Syndrome 
Say Syndrome 
scalp-ear-nipple syndrome  
Schilbach-Rott Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Lelek Syndrome  
Seaver Cassidy Syndrome 
Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 
Selective Tooth Agenesis with Orofacial Cleft 
Seres-Santamaria Arimany Muniz Syndrome 
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spastic paraplegia with deafness 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
Stratton-Parker Syndrome 
syndactyly type 8  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 35  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Teebi hypertelorism syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Esch-O'Driscoll syndrome  
Waisman syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-linked atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrogenic diabetes insipidus  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia +   
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  
Yim Ebbin Syndrome 
Zadik Barak Levin Syndrome 

Synonyms
Exact Synonyms: BBBG1 ;   GBBB syndrome ;   GBBB1 ;   OGS1 ;   OS ;   OSX ;   Opitz BBB-G syndrome ;   Opitz BBBG syndrome ;   Opitz BBBG syndrome, type I ;   Opitz G/BBB syndrome ;   Opitz GBBB syndrome type I ;   Opitz GBBB syndrome, X-linked ;   Opitz Syndrome ;   Opitz-G syndrome, type I ;   X-linked Opitz syndrome ;   X-linked Opitz syndrome (XLOS) ;   hypertelorism with esophageal abnormalities and hypospadias ;   hypertelorism with esophageal abnormality and hypospadias ;   hypertelorism-hypospadias sydrome ;   telecanthus-hypospadias syndrome
Primary IDs: MESH:C567932
Alternate IDs: DOID:0050780 ;   MIM:300000
Xrefs: GARD:193 ;   NCI:C125487
Definition Sources: http://www.genome.jp/dbget-bin/www_bget?ds:H00583 "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1523/ "DO" "DO", https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome "DO" "DO", https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/15558842/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO" "DO"

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