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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
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  
Aarskog syndrome +   
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
acheiropody  
acrocardiofacial syndrome 
Acrocephalopolydactylous Dysplasia 
acrocephalosyndactylia +   
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acrootoocular Syndrome 
acrorenal syndrome +  
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 
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aphalangia Syndactyly Microcephaly 
Arboleda-Tham syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Aurocephalosyndactyly 
autosomal dominant intellectual developmental disorder 22  
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
Bamforth-Lazarus syndrome  
Banki 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  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Bloch-Sulzberger syndrome +   
Bonneau Syndrome 
Bowen Syndrome 
brachydactyly type E1  
brachydactyly type E2  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Burnett Schwartz Berberian Syndrome  
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type +  
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
CAPOS Syndrome  
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
Catel Manzke syndrome  
CATIFA Syndrome  
caudal regression syndrome  
Cenani-Lenz syndactyly syndrome  
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
Chitayat Meunier Hodgkinson 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 lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
COACH syndrome +   
Cockayne syndrome +   
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency 1  
Combined Pituitary Hormone Deficiency 4  
Complex Camptosynpolydactyly  
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 heart defects, hamartomas of tongue, and polysyndactyly  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital secretory sodium diarrhea 3  
congenital vertical talus  
contractures, pterygia, and spondylocarpotarsal fusion syndrome +   
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Cranioacrofacial Syndrome 
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +   
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis, Adelaide Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crossed Polysyndactyly 
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Daneman Davy Mancer Syndrome 
Deaf-Blind Disorders +   
Deafness, Congenital Onychodystrophy, Recessive Form 
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 1 +   
distal arthrogryposis type 3  
distal arthrogryposis type 7  
Distal Symphalangism +   
DK Phocomelia Syndrome 
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
ectodermal dysplasia +   
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia-Syndactyly Syndrome +   
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
Ectrodactyly Cardiopathy Dysmorphism 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Eiken syndrome  
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Fairbank Disease 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold Trainer Syndrome 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi syndrome  
Fine-Lubinsky Syndrome  
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
Gollop Coates Syndrome 
Gomez Lopez Hernandez Syndrome 
Goodman Camptodactyly 
Gorlin Chaudhry Moss Syndrome 
Grange Syndrome  
Grant Syndrome 
Green Sandford Davison Syndrome 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hairy Palms and Soles 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defects Limb Shortening 
Heart-Hand Syndrome, Slovenian Type  
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 +   
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome +   
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hoxha-Aliu syndrome  
Hunter-Macdonald Syndrome 
hydrolethalus 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 +   
IVIC syndrome  
Jackson-Weiss syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johnson Munson Syndrome 
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 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome +   
Landy Donnai Syndrome 
Larsen-Like Syndromes +   
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leri Pleonosteosis 
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 +   
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
Macrodactyly of the Foot 
Macrodactyly of the Hand 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mammary-Digital-Nail Syndrome 
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro 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 
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction  
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Acroscyphodysplasia 
Metatarsus Varus, Type I 
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly with Mental Retardation and Digital Anomalies  
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 +   
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
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 
Naguib-Richieri-Costa 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 +   
Nicolaides-Baraitser 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 +   
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 7 +   
orofaciodigital syndrome +   
Oslam syndrome 
otopalatodigital syndrome spectrum disorder +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Patterson Pseudoleprechaunism Syndrome 
Pavone Fiumara Rizzo Syndrome 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Periventricular Nodular Heterotopia 7  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Rockelein Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome  
Pointer Syndrome 
Poland syndrome 
polycystic kidney disease +   
popliteal pterygium syndrome +   
postaxial acrofacial dysostosis  
Postaxial Polydactyly, Type A4 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
preaxial polydactyly II +   
Premature Aging, Okamoto Type 
Primrose Syndrome  
Progeroid Facial Appearance with Hand Anomalies 
prolidase deficiency  
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
Pseudotrisomy 13 Syndrome  
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 
Ray Peterson Scott Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Rhizomelic Dysplasia Patterson Lowry Type 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Ritscher-Schinzel syndrome +   
Rosselli-Gulienetti 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  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
sclerosteosis +   
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Second Metatarsal-Metacarpal Syndrome 
Seemanova Lesny Syndrome 
Seow Najjar Syndrome 
Sharma Kapoor Ramji Syndrome 
Shashi-Pena Syndrome  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
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, Split Foot, Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylocamptodactyly 
spondylocarpotarsal synostosis syndrome  
spondylocostal dysostosis 1  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Squalene Synthase Deficiency  
Stankiewicz-Isidor Syndrome  
Stapes Ankylosis with Broad Thumbs and Toes  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga-de Koomen-Davis Syndrome 
Stoll Alembik Dott Syndrome 
SULEIMAN-EL-HATTAB SYNDROME  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly type 1  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
Syndactyly Type 6 
syndactyly type 8  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 8 
synpolydactyly +   
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies 
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tamari Goodman Syndrome 
TAN-ALMURSHEDI SYNDROME  
Tarsal Coalition 
tarsal-carpal coalition syndrome +   
Teebi hypertelorism syndrome +   
Teebi Kaurah Syndrome 
Teebi Shaltout Syndrome 
Tel Hashomer Camptodactyly Syndrome 
terminal osseous dysplasia  
tetraamelia syndrome +   
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia 11  
Thymic Aplasia with Fetal Death 
Timothy syndrome  
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
trichorhinophalangeal syndrome type III  
trichothiodystrophy +   
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Triphalangeal Thumbs with Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Trueb Burg Bottani Syndrome 
Tsukahara Syndrome  
Tukel syndrome 
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 
ulnar-mammary syndrome  
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
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 
Ventricular Extrasystoles Perodactyly Robin Sequence 
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 
Winter Shortland Temple 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 +   
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
ZTTK syndrome  
zygodactyly 1 

Synonyms
Primary IDs: MESH:C536269

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