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Term:
Parent Terms Term With Siblings Child Terms
Abnormalities, Drug-Induced +   
Abnormalities, Severe Teratoid +   
Absence of Nasal Bones 
Absence of Vagina 
Accessory Pancreas 
Agenesis of Gallbladder  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome  
Amastia +   
Arrhinia 
Atlanto-Axial Fusion 
Bresheck/Bresek Syndrome 
Cardiovascular Abnormalities +   
Caudal Duplication Anomaly  
chromosomal disease +   
Complete Absence of Bile and Pancreatic Ducts 
Congenital Aural Atresia  
congenital diaphragmatic hernia +   
Congenital Microtia +   
Congenital Stridor 
Crane-Heise Syndrome 
Deal Barratt Dillon Syndrome 
Digestive System Abnormalities +   
Eye Abnormalities +   
Familial Cryptotia 
Familial Laryngeal Web 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
Laryngeal Cleft 
Lymphatic Abnormalities +   
Mayer-Rokitansky-Kuster-Hauser syndrome +   
Mondini Dysplasia  
Multiple Abnormalities +   
Congenital abnormalities that affect more than one organ or body structure.
Musculoskeletal Abnormalities +   
Nervous System Malformations +   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
Pancreas Agenesis, Dorsal 
Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 
Radiation-Induced Abnormalities 
Renal and Mullerian Duct Hypoplasia +   
Respiratory System Abnormalities +   
Rhiny 
Saito Kuba Tsuruta Syndrome 
Schlegelberger Grote Syndrome 
situs inversus 
Skin Abnormalities +   
Sprengel Deformity  
Stomatognathic System Abnormalities +   
thyroid malformation +   
Urogenital Abnormalities +   
Zaki syndrome  
 16Q24.3 Microdeletion Syndrome  
 1q24 Deletion Syndrome  
 22q11 Deletion Syndrome +   
 3-hydroxyisobutryl-CoA hydrolase deficiency  
 3-methylglutaconic aciduria type 4 
 3MC syndrome +   
 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  
 Anisomastia 
 Arboleda-Tham syndrome  
 Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
 arthrogryposis, renal dysfunction, and cholestasis 1  
 asphyxiating thoracic dystrophy +   
 Aughton Syndrome 
 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
 autosomal dominant intellectual developmental disorder 22  
 Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
 Axial Mesodermal Dysplasia Spectrum 
 Bamforth-Lazarus syndrome  
 Baraitser-Winter syndrome +   
 Bart-Pumphrey syndrome  
 Barth syndrome +   
 Beckwith-Wiedemann syndrome +   
 Ben Ari Shuper Mimouni Syndrome 
 Beta-Ureidopropionase Deficiency  
 Bifid Femur with Monodactylous Ectrodactyly  
 Bilateral Amastia with Ureteral Triplication and Dysmorphism 
 bilateral perisylvian polymicrogyria +   
 Birk-Landau-Perez Syndrome  
 Bloch-Sulzberger syndrome +   
 Bowen Syndrome 
 Brachydactyly, Intraventricular Septal Defect, and Deafness 
 Brachymesomelia Renal Syndrome 
 Branchiogenic-Deafness Syndrome 
 branchiooculofacial syndrome  
 branchiootorenal syndrome +   
 Broad Terminal Phalanges, Familial 
 Burnett Schwartz Berberian Syndrome  
 Cardiac, Facial, and Digital Anomalies with Developmental Delay  
 Carney complex +   
 CATIFA Syndrome  
 caudal regression syndrome  
 Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
 Char syndrome  
 CHARGE syndrome  
 Chemke Oliver Mallek Syndrome 
 CHILD syndrome  
 CHOPRA-AMIEL-GORDON SYNDROME  
 CHOPS Syndrome  
 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 
 ciliopathy +   
 CIMDAG SYNDROME  
 Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
 COACH syndrome +   
 Cockayne syndrome +   
 Coffin-Siris syndrome +   
 combined or isolated 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 secretory sodium diarrhea 3  
 contractures, pterygia, and spondylocarpotarsal fusion syndrome +   
 Cornelia de Lange syndrome +   
 Costello syndrome  
 Costocoracoid Ligament Congenitally Short 
 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +   
 craniofacial-deafness-hand syndrome  
 Craniofaciofrontodigital Syndrome 
 Craniofacioskeletal Syndrome 
 Craniomicromelic Syndrome 
 Craniosynostosis Syndrome, Autosomal Recessive  
 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
 Cree Mental Retardation Syndrome 
 Cri-du-Chat syndrome +   
 Crumpled Helices and Small Mouth 
 Cryptomicrotia-Brachydactyly Syndrome 
 Deaf-Blind Disorders +   
 deafness, dystonia, and cerebral hypomyelination  
 Deafness, Nephritis, Anorectal Malformation 
 deafness-intellectual disability, Martin-Probst type syndrome  
 DEEAH Syndrome  
 Delayed Cranial Ossification due to CBFB Haploinsufficiency 
 Desmosterolosis  
 Devriendt syndrome 
 Dincsoy Salih Patel Syndrome 
 distal arthrogryposis type 7  
 DK Phocomelia Syndrome 
 Donohue syndrome  
 Down syndrome +   
 ectodermal dysplasia +   
 Ectrodactyly Cardiopathy Dysmorphism 
 Elliott Ludman Teebi Syndrome 
 Ellis Yale Winter Syndrome 
 Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
 EVEN-PLUS 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 Fibula Ulna Syndrome 
 fibrochondrogenesis +   
 Filippi syndrome  
 Fine-Lubinsky Syndrome  
 Flat Umbilicus Familial 
 Floating-Harbor syndrome  
 Forney Robinson Pascoe Syndrome  
 Fountain Syndrome 
 Fraser Jequier Chen Syndrome 
 Fraser syndrome +   
 Fried Goldberg Mundel Syndrome 
 Gardner Morrisson Abbot Syndrome 
 Gardner Syndrome +   
 Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
 Glutamyl Ribose-5-Phosphate Storage Disease 
 Gomez Lopez Hernandez Syndrome 
 Gorlin Chaudhry Moss Syndrome 
 Grant Syndrome 
 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 Weisskopf 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 
 Hoxha-Aliu syndrome  
 Hunter-Macdonald Syndrome 
 hyperphosphatasia with impaired intellectual development syndrome +   
 Hypomelia Mullerian Duct Anomalies 
 hypoparathyroidism-retardation-dysmorphism syndrome  
 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
 IGF1R-RELATED DISORDER  
 Iris Dysplasia Hypertelorism Deafness 
 Isolated Noncompaction of the Ventricular Myocardium +   
 Jequier Kozlowski Skeletal Dysplasia 
 JOINT LAXITY, SHORT STATURE, AND MYOPIA  
 Jung Wolff Back Stahl Syndrome 
 Kabuki syndrome +   
 Kapur Toriello Syndrome  
 Kashani Strom Utley Syndrome 
 Kasznica Carlson Coppedge 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 
 LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT  
 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
 linear nevus sebaceous syndrome +   
 Loeys-Dietz syndrome +   
 Lopes Gorlin Syndrome 
 Lowry Maclean syndrome 
 Lung Agenesis +   
 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  
 McDonough Syndrome 
 McKusick-Kaufman syndrome  
 McPherson Clemens Syndrome 
 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 Restriction, and Increased Sister Chromatid Exchange +   
 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
 Microdontia Hypodontia Short Stature 
 Microspherophakia with Hernia 
 MIRAGE Syndrome  
 MLS syndrome +   
 Moebius 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 
 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
 multiple congenital anomalies-hypotonia-seizures syndrome +   
 multiple congenital anomalies-hypotonia-seizures syndrome 3  
 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
 Myoectodermal Gonadal Dysgenesis Syndrome  
 Nablus Mask-Like Facial Syndrome 
 nail-patella syndrome +   
 Nasopalpebral Lipoma Coloboma Syndrome  
 Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
 Netherton syndrome  
 Neu-Laxova syndrome 1  
 Neu-Laxova syndrome 2  
 NEUROCARDIOFACIODIGITAL SYNDROME  
 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION  
 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
 Neurofaciodigitorenal Syndrome 
 nevoid basal cell carcinoma syndrome +   
 Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum 
 Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
 Noonan syndrome with multiple lentigines +   
 Novak Syndrome 
 Oculocerebral Hypopigmentation Syndrome Type Preus 
 oculocerebrorenal syndrome +   
 Oculopalatocerebral Syndrome 
 Oculorenocerebellar Syndrome 
 Ogden syndrome  
 orofaciodigital syndrome +   
 Oslam syndrome 
 Palant Cleft Palate Syndrome 
 Pallister W Syndrome 
 Pallister-Hall syndrome +   
 PAN-CHUNG-BELLEN SYNDROME  
 Patterson Pseudoleprechaunism Syndrome 
 Pelvis-Shoulder Dysplasia 
 Penoscrotal Transposition 
 Pentalogy of Cantrell 
 Petty Laxova Wiedemann Syndrome 
 Pfeiffer Kapferer Syndrome 
 Pfeiffer Mayer Syndrome 
 Pfeiffer Palm Teller Syndrome 
 Pfeiffer Tietze Welte Syndrome 
 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY  
 Piepkorn Karp Hickok syndrome 
 Pierson syndrome  
 Pilotto Syndrome 
 Podder-Tolmie Syndrome 
 POEMS syndrome  
 Pointer Syndrome 
 polycystic kidney disease +   
 postaxial acrofacial dysostosis  
 Potocki-Lupski syndrome  
 Powell Chandra Saal Syndrome 
 Prader-Willi syndrome +   
 Premature Aging, Okamoto Type 
 Primrose Syndrome  
 prolidase deficiency  
 Proteus syndrome +   
 prune belly syndrome +   
 Pseudoaminopterin Syndrome 
 Qazi Markouizos syndrome 
 Rabin-Pappas 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 
 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 
 Schrander-Stumpel Theunissen Hulsmans Syndrome 
 Seaver Cassidy Syndrome 
 Seckel Like Syndrome Type Buebel 
 Seckel syndrome +   
 Seemanova Lesny Syndrome 
 Seow Najjar Syndrome 
 Sharma Kapoor Ramji Syndrome 
 Shashi-Pena Syndrome  
 Short Stature, Impaired Intellectual Development, 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  
 Smith-Lemli-Opitz syndrome +   
 Smith-Magenis syndrome +   
 Sotos syndrome +   
 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
 spondylocarpotarsal synostosis syndrome  
 spondylocostal dysostosis 1  
 Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
 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 
 SULEIMAN-EL-HATTAB SYNDROME  
 Tamari Goodman Syndrome 
 TAN-ALMURSHEDI SYNDROME  
 Teebi hypertelorism syndrome +   
 Teebi Shaltout Syndrome 
 tetraamelia syndrome +   
 Thakker-Donnai Syndrome 
 Thomas Jewett Raines Syndrome 
 Thomas Syndrome 
 Thoracolaryngopelvic Dysplasia 
 Thrombocytopenia 11  
 Thymic Aplasia with Fetal Death 
 Tollner Horst Manzke Syndrome 
 Townes-Brocks syndrome +   
 Tricho-Dento-Osseous Syndrome 1 
 trichothiodystrophy +   
 Triphalangeal Thumbs with Brachyectrodactyly 
 Trisomy 18-Like Syndrome 
 Tsukahara Syndrome  
 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 
 Verheij Syndrome  
 Verloove-Vanhorick Brubakk Syndrome 
 vertebral anomalies and variable endocrine and T-cell dysfunction  
 Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS  
 visceral heterotaxy +   
 Vohwinkel syndrome  
 Waardenburg 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 
 Wiedemann-Steiner 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  
 YUKSEL-VOGEL-BAUER SYNDROME  
 Zadik Barak Levin Syndrome 
 Zechi-Ceide Syndrome 
 Zellweger syndrome +   
 Zimmerman Laband Syndrome +   
 ZTTK syndrome  

Synonyms
Exact Synonyms: MULTIPLE CONGENITAL ANOMALIES ;   Multisystem Disorder
Narrow Synonyms: H3F3A-RELATED CONDITION ;   Multiple congenital anomalies-hypotonia-seizures syndrome
Broad Synonyms: H3-3A-RELATED CONDITION ;   H3F3A-RELATED DISORDERS
Primary IDs: MESH:D000015
Definition Sources: MESH:D000015

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