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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
Joubert syndrome +     
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3MC syndrome 1  
3p deletion syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adducted Thumbs Syndrome +   
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Alagille syndrome  
Angelman syndrome  
aniridia +   
Anisomastia 
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant non-syndromic intellectual disability 22  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Axial Mesodermal Dysplasia Spectrum 
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Birk-Landau-Perez Syndrome  
blepharophimosis +   
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Blue Diaper Syndrome 
Bowen Syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brittle Cornea Syndrome +   
Broad Terminal Phalanges, Familial 
Burnett Schwartz Berberian Syndrome  
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
Carney complex +   
CATIFA Syndrome  
caudal regression syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
Choroidal Effusions +  
chromosome 15q26-qter deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
chromosome 6pter-p24 deletion syndrome 
ciliopathy +   
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
COACH syndrome  
Cockayne syndrome +   
CODAS syndrome  
Coffin-Siris syndrome +   
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
cryptophthalmia +   
De Hauwere syndrome 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Desanto-Shinawi Syndrome  
Desmosterolosis  
Devriendt syndrome 
diffuse cystic renal dysplasia  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
Dincsoy Salih Patel Syndrome 
distal arthrogryposis type 7  
DK Phocomelia Syndrome 
Donohue syndrome  
Down syndrome +   
Dwarfism Stiff Joint Ocular Abnormalities 
ectodermal dysplasia +   
Ectopia Lentis +   
Ectrodactyly Cardiopathy Dysmorphism 
Egg-Shaped Pupil 
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
exudative vitreoretinopathy +   
FACES Syndrome 
Facial Dysmorphism with Multiple Malformations +   
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fried Goldberg Mundel Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria  
Glutamyl Ribose-5-Phosphate Storage Disease 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gorlin Chaudhry Moss Syndrome 
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-Macdonald Syndrome 
hydrophthalmos +   
Hyperphosphatasia with Mental Retardation +   
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
Insulin-Like Growth Factor I, Resistance To  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Isolated Noncompaction of the Ventricular Myocardium +   
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 1  
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
Joubert syndrome 10  
Joubert Syndrome 12  
Joubert Syndrome 13  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 16  
Joubert Syndrome 17  
Joubert Syndrome 18  
Joubert Syndrome 2  
Joubert syndrome 20  
Joubert syndrome 21  
Joubert Syndrome 22  
Joubert Syndrome 23  
Joubert syndrome 24  
Joubert Syndrome 25  
Joubert Syndrome 26  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 29 
Joubert syndrome 3  
Joubert syndrome 30  
Joubert syndrome 31  
Joubert syndrome 32  
Joubert syndrome 33  
JOUBERT SYNDROME 35  
Joubert Syndrome 36  
Joubert syndrome 4  
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
Kosaki Overgrowth Syndrome  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Larsen-Like Syndromes +   
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Light Fixation Seizure Syndrome 
linear nevus sebaceous syndrome +   
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lowry Maclean syndrome 
Lung Agenesis +   
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
maturity-onset diabetes of the young type 5  
Maxillofacial Dysostosis 
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
Meckel Syndrome, Type 10  
Meckel Syndrome, Type 12  
Medullary Sponge Kidney +   
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microdontia Hypodontia Short Stature 
microphthalmia +   
Microspherophakia with Hernia 
MIRAGE SYNDROME  
MLS syndrome +   
Mobius syndrome +   
MOMES Syndrome 
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
mucolipidosis II alpha/beta  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muller Barth Menger Syndrome 
Multicystic Dysplastic Kidney +   
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple pterygium syndrome +   
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
nephronophthisis +   
nephronophthisis 12  
nephronophthisis 14  
Nephrotic Syndrome with Ocular Anomalies 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
non-congenital cyst of kidney 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Noonan syndrome with multiple lentigines +   
Novak Syndrome 
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
orofaciodigital syndrome +   
Oslam syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Patterson Pseudoleprechaunism Syndrome 
Pelvis-Shoulder Dysplasia 
Pena Shokeir Syndrome Type 2 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perisylvian Syndrome +   
persistent hyperplastic primary vitreous +   
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHACE Association  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
popliteal pterygium syndrome +   
postaxial acrofacial dysostosis  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
Prepapillary Vascular Loops 
Primrose Syndrome  
prolidase deficiency  
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
Pupillary Membrane, Persistence of 
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal TSC2 Angiomyolipomas, Modifier of 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
renal-hepatic-pancreatic dysplasia +   
Retinal Dysplasia +   
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Ritscher-Schinzel syndrome +   
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say Syndrome 
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
Schmid-Fraccaro Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Senior-Loken syndrome +   
Seow Najjar Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Stromme syndrome  
Tamari Goodman Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thymic Aplasia with Fetal Death 
Tollner Horst Manzke Syndrome 
torsion dystonia with onset in infancy  
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
trichothiodystrophy +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome  
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
ventriculomegaly - cystic kidney disease  
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
visceral heterotaxy +   
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome +   
ZTTK Syndrome  

Synonyms
Exact Synonyms: CORS1 ;   CPD4 ;   Cerebellar vermis agenesis ;   Cerebello-Oculo-Renal Syndrome ;   Cerebellooculorenal syndrome 1 ;   Cerebelloparenchymal Disorder IV ;   Cerebelloparenchymal disorder 4 ;   JBTS1 ;   Joubert-Boltshauser syndrome ;   agenesis of cerebellar vermis ;   familial aplasia of the vermis
Primary IDs: MESH:C536293
Alternate IDs: OMIM:213300
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19668216 "DO"

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