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Term:
Proteus syndrome (DOID:13482)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p- syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Abruzzo Erickson Syndrome  
Acro-Osteolysis +   
Acrocephalopolydactylous Dysplasia 
Acromegaloid Facial Appearance Syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acromesomelic Dysplasia, Demirhan Type  
Acromicric Dysplasia +   
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Adams-Oliver syndrome +   
Adducted Thumbs Syndrome +   
ADULT syndrome  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agnathia-otocephaly complex  
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  
Angel Shaped Phalangoepiphyseal Dysplasia 
Angelman syndrome  
Anisomastia 
Arachnodactyly +   
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
Atelosteogenesis Type 3  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive Robinow syndrome  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baby Rattle Pelvis Dysplasia 
Bagatelle Cassidy syndrome 
Bamforth-Lazarus syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Beckwith-Wiedemann syndrome +   
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
Bent Bone Dysplasia Syndrome  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
BIRK-LANDAU-PEREZ SYNDROME  
bladder exstrophy-epispadias-cloacal exstrophy complex +   
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Blount's disease 
Bone Dysplasia, Lethal, Holmgren Type 
Bowen Syndrome 
Brachioskeletogenital Syndrome  
brachydactyly +   
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachyolmia Type 1, Hobaek Type 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brittle Bone Disorder 
Broad Terminal Phalanges, Familial 
Burnett Schwartz Berberian Syndrome +   
Calabro Syndrome 
Camptobrachydactyly 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
Carney complex +   
Cartwright Nelson Fryns Syndrome 
Cerebellar Granule Cell Hypertrophy and Megalencephaly 
Cerebelloparenchymal Disorder VI 
Cerebrofaciothoracic Dysplasia  
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 
Cervical Vertebral Dysplasia 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD Syndrome  
CHITAYAT SYNDROME  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 15q26-qter deletion syndrome 
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 deletion syndrome, distal 
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 5p13 duplication syndrome 
ciliopathy +   
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
cleft palate-lateral synechia syndrome  
clubfoot +   
COACH Syndrome  
Cockayne syndrome +   
cocoon 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 CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital nervous system abnormality +   
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Cowden syndrome +   
Cowden-Like Syndrome  
Craniofacial Deafness Hand Syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniolenticulosutural dysplasia  
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 
cryptorchidism +   
Deaf-Blind Disorders +   
Deafness Conductive Ptosis Skeletal Anomalies 
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Desmosterolosis  
Devriendt syndrome 
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
Dincsoy Salih Patel Syndrome 
DK Phocomelia Syndrome 
Donohue syndrome +   
Doughnut Lesions of Skull, Familial 
Down syndrome +   
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
ectodermal dysplasia +   
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly-Polydactyly 
Ectromelia +   
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 
Faciocardiomelic Dysplasia, Lethal 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
Fetal Akinesia Syndrome, X-Linked 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Freire-Maia Odontotrichomelic Syndrome 
Fried Goldberg Mundel Syndrome 
Fryns Hofkens Fabry Syndrome 
Fryns Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
gastroschisis +   
Genee-Wiedemann Syndrome  
Gigantism +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorham's disease +  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Graham Boyle Troxell Syndrome 
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hand and Foot Deformity with Flat Facies 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defect, Tongue Hamartoma and Polysyndactyly 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht 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 
Hyperphosphatasia with Mental Retardation +   
hypochondroplasia  
Hypoglossia-Hypodactylia 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
hypospadias +   
Hypotonia, Seizures, and Precocious Puberty 
Ichthyosis Tapered Fingers Midline Groove Up 
imperforate anus +   
inclusion-cell disease  
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
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  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kantaputra Gorlin Syndrome 
Kaplan Plauchu Fitch Syndrome 
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Klippel-Feil syndrome +   
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kuster Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Larsen-Like Syndrome, Lethal Type 
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Lateral Meningocele Syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
Le Marec Bracq Picaud Syndrome 
Leg Length Inequality 
Lenz Majewski Hyperostotic Dwarfism  
LEOPARD syndrome +   
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Light Fixation Seizure Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
Limb-Mammary Syndrome  
Linear Skin Defects with Multiple Congenital Anomalies +   
Lissencephaly Type III and Bone Dysplasia 
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lower Extremity Deformities, Congenital +   
Lowry Maclean syndrome 
Lung Agenesis  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lynch Lee Murday syndrome 
Macroepiphyseal Dysplasia, McAlister Coe Type 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malformation of Arms 
Manouvrier Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
Meckel's diverticulum 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megalodactyly  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Melhem Fahl Syndrome 
Membranous Cranial Ossification, Delayed 
Menke-Hennekam Syndrome +   
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mesomelia-Synostoses Syndrome 
Mesomelic Dysplasia, Camera Type 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Anadysplasia +   
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microdontia Hypodontia Short Stature 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Syndromic 6  
Microspherophakia with Hernia 
MIRAGE SYNDROME  
Miura type epiphyseal chondrodysplasia  
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muller Barth Menger Syndrome 
Multiple Basal Cell Carcinoma  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, X-Linked 
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Nephrosis Deafness Urinary Tract Digital Malformation 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
neural tube defect +   
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nievergelt Syndrome 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
omphalocele  
orofacial cleft +   
orofaciodigital syndrome +   
Oslam syndrome 
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Penttinen-Aula Syndrome  
Perisylvian Syndrome +   
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Platybasia +  
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
Poland syndrome 
polycystic kidney disease +   
polydactyly +   
Postaxial Oligodactyly, Tetramelic 
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Premature Aging, Okamoto Type 
Prenatal Bowing 
Primrose Syndrome  
Prolidase Deficiency  
Proteus syndrome +   
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called 'elephant man', apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
prune belly syndrome +   
Pseudoaminopterin Syndrome 
PTEN hamartoma tumor syndrome  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Deficiency, X-Linked 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
radioulnar synostosis  
Radius Absent Anogenital Anomalies 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Reardon Hall Slaney syndrome 
Renal Dysplasia - Limb Defects Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Ritscher-Schinzel syndrome +   
Robinow syndrome +   
Roifman-Chitayat Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Hemangiomas Multiple Congenital Abnormalities 
Sacral Meningocele Conotruncal Heart Defects 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Santos Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Seow Najjar Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature-Obesity Syndrome 
Shprintzen Omphalocele Syndrome 
Shwachman-Diamond Syndrome 2  
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Split-Hand-Foot Malformation With Long Bone Deficiency 1 
Split-Hand/Foot Malformation with Long Bone Deficiency 2 
Split-Hand/Foot Malformation with Long Bone Deficiency 3 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spranger Schinzel Myers Syndrome 
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Stoll Levy Francfort Syndrome 
Stratton-Parker Syndrome 
syndactyly +   
Tamari Goodman Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Tetra-Amelia with Pulmonary Hypoplasia 
Tetraamelia Multiple Malformations 
Tetramelic Monodactyly 
Thakker Donnai Syndrome 
thanatophoric dysplasia +   
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
Trichoodontoonychial Dysplasia 
Trichothiodystrophy Syndromes +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome 
Ulnar Hypoplasia with Mental Retardation 
ulnar-mammary syndrome  
Upper Extremity Deformities, Congenital +   
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
VACTERL association  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
Vertebral Body Fusion Overgrowth 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vohwinkel Syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
Weill-Marchesani Syndrome 3  
Weismann Netter Syndrome 
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Winchester Syndrome  
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Wright Dyck Syndrome 
WT Limb Blood Syndrome 
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome  
ZTTK Syndrome  

Synonyms
Exact Synonyms: Elephant Man Disease ;   Proteus Like Syndrome ;   Wiedemann's syndrome
Narrow Synonyms: GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME
Primary IDs: MESH:D016715 ;   RDO:0003605
Alternate IDs: OMIM:176920
Xrefs: GARD:7475
Definition Sources: MESH:D016715

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