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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
adrenoleukodystrophy +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Aland Island eye disease  
Alazami Syndrome  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
AMME complex 
Armfield syndrome  
Arthrogryposis Multiplex Congenita Whistling Face 
Arts syndrome  
Asymmetric Short Stature Syndrome 
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Barth syndrome +   
Basilicata-Akhtar syndrome  
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies  
Brunner syndrome  
Calvarial Hyperostosis +   
Camptodactyly Syndrome Guadalajara Type 2 
Cardioacrofacial Dysplasia +   
CD40 ligand deficiency +   
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
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  
CHITAYAT SYNDROME  
Christianson syndrome  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome  
CK syndrome  
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
CODAS syndrome  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 6  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital nongoitrous hypothyroidism 9  
congenital nonspherocytic hemolytic anemia 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Dent disease +   
DeSanto-Shinawi syndrome  
Desbuquois dysplasia +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Diaphanospondylodysostosis  
diphthamide deficiency syndrome 1  
distal arthrogryposis type 6 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
factor VIII deficiency +   
Fanconi anemia complementation group B  
female-restricted syndromic X-linked intellectual disability 99  
female-restricted Wieacker-Wolff syndrome  
fetal encasement syndrome  
FG syndrome +   
FG Syndrome 5 
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
frontometaphyseal dysplasia 1  
frontonasal dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Galloway-Mowat syndrome 2  
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
glycogen storage disease IXA  
glycogen storage disease IXD  
glycogen storage disease VIII  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht-Scott Syndrome 
hemophilia B  
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
holoprosencephaly +   
Holoprosencephaly 13, X-linked  
HRPT-related hyperuricemia  
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
hypogonadotropic hypogonadism 1 with or without anosmia  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE  
isolated growth hormone deficiency type III  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Joubert syndrome 10  
Juberg Hayward Syndrome  
Kapur Toriello Syndrome  
Keipert syndrome  
Kennedy's disease  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Larsen-like syndrome B3GAT3 type  
Leichtman Wood Rohn Syndrome 
Lesch-Nyhan syndrome +   
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
Macrocephaly +   
Mandibuloacral Dysplasia Progeroid Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall syndrome +   
Marshall-Smith syndrome  
MASA syndrome  
Maxillofacial Abnormalities +   
megalocornea +   
MEHMO syndrome  
MEND syndrome  
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, X-Linked, Syndromic, Ube2a-Related 
methylmalonic acidemia and homocysteinemia cblX type  
microcephaly +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 
Mullegama-Klein-Martinez syndrome  
A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (DO)
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
nephrogenic syndrome of inappropriate antidiuresis  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
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  
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Opitz GBBB syndrome  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
OTOFACIAL NEURODEVELOPMENTAL SYNDROME  
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Paganini-Miozzo syndrome  
Pallister W Syndrome 
partial androgen insensitivity syndrome  
Partington syndrome  
Pashayan Syndrome 
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Prieto syndrome  
primary ovarian insufficiency 2B  
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Raynaud-Claes syndrome  
Reardon Hall Slaney syndrome 
Renpenning syndrome  
retinitis pigmentosa 23  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel Giedion syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Sener Syndrome 
severe congenital encephalopathy due to MECP2 mutation  
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
spastic paraplegia with deafness 
Splenogonadal Fusion with Limb Defects and Micrognathia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Stocco Dos Santos type X-linked intellectual disability  
Sweeney-Cox syndrome  
syndactyly type 8  
syndromic X-linked intellectual developmental disorder 37  
syndromic X-linked intellectual developmental disorder Bain type  
syndromic X-linked intellectual disability 12 
syndromic X-linked intellectual disability 14  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 33  
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 35  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability 7 
syndromic X-linked intellectual disability 94  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Chudley-Schwartz type 
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Nascimento type  
syndromic X-linked intellectual disability Pilorge type  
syndromic X-linked intellectual disability Raymond type  
syndromic X-linked intellectual disability Shashi type  
syndromic X-linked intellectual disability Shrimpton 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 disability type 10  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
syndromic X-linked mental retardation Hough type  
Teebi hypertelorism syndrome +   
Teebi Shaltout Syndrome 
Telecanthus +   
Temtamy syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome 2  
Tetrasomy X 
Tollner Horst Manzke Syndrome 
Tonne-Kalscheuer syndrome  
trichodontoosseous syndrome  
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Esch-O'Driscoll syndrome  
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
visceral heterotaxy 1  
Waisman syndrome  
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wieacker-Wolff syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wilson-Turner syndrome  
Winter Shortland Temple Syndrome  
Wiskott-Aldrich syndrome +   
Worth 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 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 Developmental Disorder 110  
X-Linked Intellectual Developmental Disorder 112  
X-Linked Intellectual Developmental Disorder 113  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
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 mental retardation Gustavson type  
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-linked mental retardation-hypotonic facies syndrome-1  
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 spermatogenic failure 7  
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  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: MKMS ;   NEDXCF ;   X-linked neurodevelopmental disorder with craniofacial abnormalities
Broad Synonyms: STAG2-RELATED CONDITION ;   STAG2-related disorder
Primary IDs: MIM:301022
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/28296084 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30765867 "DO" "DO"

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