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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
bone disease +     
Crouzon syndrome +     
hair disease +     
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 
Ackerman Syndrome 
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 
anodontia +   
anterior segment dysgenesis 4  
Arboleda-Tham syndrome  
AREDYLD Syndrome 
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
AURONEURODENTAL SYNDROME  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant intellectual developmental disorder 22  
autosomal recessive craniometaphyseal dysplasia  
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 +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Bazopoulou Kyrkanidou Syndrome 
Beckwith-Wiedemann syndrome +   
bejel 
Ben Ari Shuper Mimouni Syndrome 
Beta-Ureidopropionase Deficiency  
Bifid Femur with Monodactylous Ectrodactyly  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
bilateral perisylvian polymicrogyria +   
Bird Headed Dwarfism Montreal Type 
Birk-Landau-Perez Syndrome  
Bjornstad syndrome  
blepharocheilodontic syndrome +   
Bloch-Sulzberger syndrome +   
bone benign neoplasm +   
Bone Cysts +   
bone development disease +   
bone inflammation disease +   
Bone Malalignment +   
Bone Neoplasms +   
bone remodeling disease +   
bone resorption disease +   
bone structure disease +   
Book Syndrome 
Bowen Syndrome 
brachycephaly, trichomegaly, and developmental delay  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Burnett Schwartz Berberian Syndrome  
Carabelli Anomaly of Maxillary Molar Teeth 
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
Carney complex +   
Catatrichy 
Catel Manzke syndrome  
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 
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
COACH syndrome +   
Cockayne syndrome +   
CODAS syndrome  
Coffin-Siris syndrome +   
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 Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
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 +   
Copper Deficiency, Familial Benign 
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Cote Katsantoni Syndrome 
Coxa Magna 
Coxa Valga 
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +   
Craniofacial Dysostosis with Diaphyseal Hyperplasia 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis and Dental Anomalies  
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
cystic echinococcosis  
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 
Dens in Dente +  
dental enamel hypoplasia +   
dentin dysplasia +   
dentinogenesis imperfecta +   
Dermoodontodysplasia 
Desmosterolosis  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Devriendt syndrome 
Diastema +  
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis  
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 
Endocrine Bone Diseases +   
Eosinophilic Granuloma  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Euhidrotic Ectodermal Dysplasia 
EVEN-PLUS SYNDROME  
Expansile Bone Lesions 
Facial Dysmorphism with Multiple Malformations +   
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
familial isolated trichomegaly  
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
familial woolly hair syndrome +   
Feingold Trainer Syndrome 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
fibular collateral ligament bursitis 
Filippi syndrome  
Fine-Lubinsky Syndrome  
Flat Umbilicus Familial 
Floating-Harbor syndrome  
FLOTCH Syndrome 
folliculitis +   
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Freeman-Sheldon syndrome +   
Fried Goldberg Mundel Syndrome 
Fused Teeth 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Genu Valgum +   
Genu Varum +   
geroderma osteodysplasticum  
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  
Grubben de Cock Borghgraef Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hairy Palms and Soles 
Halal Syndrome 
Hallermann-Streiff syndrome +  
Hamamy 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 
Hirsutism +   
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 +   
hypertrichosis +   
Hypoglossia-Hypodactylia 
Hypomandibular Faciocranial Dysostosis 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
hypotrichosis +   
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IGF1R-RELATED DISORDER  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infectious Bone Diseases +   
inflammatory poikiloderma with hair abnormalities and acral keratoses  
Iris Dysplasia Hypertelorism Deafness 
ischemic bone disease +   
Isolated Noncompaction of the Ventricular Myocardium +   
Jequier Kozlowski Skeletal Dysplasia 
Joint Dislocations +   
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kaler Garrity Stern Syndrome 
Kaplan Plauchu Fitch Syndrome 
Kapur Toriello Syndrome  
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Katsantoni Papadakou Lagoyanni 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 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome +   
Larsen 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 
Lethal Faciocardiomelic Dysplasia 
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 +   
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 
Mandibulofacial Dysostosis +   
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
Maxillofacial Dysostosis 
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 +   
Menkes disease +   
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Metabolic Bone Diseases +   
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
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 +   
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Naxos disease +   
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 DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
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 
oblique facial clefting 1  
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Oculotrichodysplasia 
Odd Shapes of Teeth 
Odontodysplasia +   
Odontomicronychial Dysplasia 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
orbital disease +   
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Oslam syndrome 
osteochondrosis +   
Osteootohepatoenteric Syndrome  
Otodental Dysplasia 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
paracoccidioidomycosis +   
Patterson Pseudoleprechaunism Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
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  
photosensitive trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pili Annulati 
Pili Multigemini 
Pili Torti +   
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome  
Pointer Syndrome 
polycystic kidney disease +   
postaxial acrofacial dysostosis  
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
primary hypertrophic osteoarthropathy +   
Primrose Syndrome  
prolidase deficiency  
Proteus syndrome +   
proximal symphalangism +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
Pseudofolliculitis Barbae  
Pseudomonilethrix 
pure hair and nail ectodermal dysplasia +   
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 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Ritscher-Schinzel syndrome +   
Rodrigues Blindness 
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 
Sclerosing Bone Dysplasia, Mental Retardation 
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  
Slipped Epiphyses +  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
sphenoid sinusitis +  
spinal disease +   
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
spondylocostal dysostosis 1  
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
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  
superficial mycosis +  
Supernumerary Tooth +   
Tamari Goodman Syndrome 
TAN-ALMURSHEDI SYNDROME  
Taurodontism +   
Taurodontism, Microdontia, and Dens Invaginatus  
Teebi hypertelorism syndrome +   
Teebi Shaltout Syndrome 
temtamy preaxial brachydactyly syndrome  
tetraamelia syndrome +   
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia 11  
Thymic Aplasia with Fetal Death 
tibial muscular dystrophy  
tinea capitis +  
Tollner Horst Manzke Syndrome 
tooth agenesis +   
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
trichodontoosseous syndrome  
Trichodysplasia-Xeroderma 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type III  
Trichostasis Spinulosa 
trichothiodystrophy +   
Triphalangeal Thumbs with Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Trochlea of the Humerus, Aplasia of 
Tsukahara Syndrome  
ulnar-mammary syndrome  
Uncombable Hair 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 +   
visceral leishmaniasis  
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 
Whistling Face Syndrome, Recessive Form 
White Forelock with Malformations 
Whyte Murphy Syndrome 
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 
yaws +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
YUKSEL-VOGEL-BAUER SYNDROME  
Zadik Barak Levin Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome +   
ZTTK syndrome  

Synonyms
Primary IDs: MESH:C536550 ;   RDO:0002165

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