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Ontology Browser

Term:
Frontootopalatodigital Osteodysplasia (DOID:9006412)
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Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
Aarskog syndrome +   
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acrootoocular Syndrome 
Acropectorovertebral Dysplasia 
acrorenal syndrome +  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Akaba Hayasaka Syndrome 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
atelosteogenesis +   
Au-Kline Syndrome  
Auriculoosteodysplasia 
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Banki Syndrome 
Baraitser-Winter syndrome +   
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blount's disease 
Boomerang dysplasia  
brachydactyly type E1  
brachydactyly type E2  
Brachymesomelia Renal Syndrome 
brachyolmia +   
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Caffey disease +   
Calvarial Hyperostosis 
campomelic dysplasia +   
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
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  
Camptosynpolydactyly, Complex  
Camurati-Engelmann disease +   
Carnevale Hernandez Castillo Syndrome 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Chitayat Meunier Hodgkinson Syndrome 
CHITAYAT SYNDROME  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
cocoon syndrome  
CODAS syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Oxidative Phosphorylation Deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis, Adelaide Type 
Crouzon syndrome +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
Czech Dysplasia, Metatarsal Type  
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
diastrophic dysplasia +   
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Symphalangism +   
DNA ligase IV deficiency  
Donohue syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dyschondrosteosis and Nephritis 
Dystelephalangy 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Fg Syndrome 5 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Floating-Harbor Syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser-Like Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontometaphyseal Dysplasia +   
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Ghosal Hematodiaphyseal Dysplasia  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Goodman Camptodactyly 
Gordon Syndrome  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Greenberg Dysplasia  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
Hall Riggs Mental Retardation Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Hennekam syndrome +   
Hip Dysplasia, Beukes Type  
holoprosencephaly +   
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Humeroradial Synostosis with Craniofacial Anomalies 
hydrolethalus syndrome +   
Hyperostosis Frontalis Interna +  
Hypertelorism +   
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
IMAGe syndrome  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Jequier Kozlowski Skeletal Dysplasia 
Johnson Munson Syndrome 
Jones Hersh Yusk Syndrome 
Kapur Toriello Syndrome 
Kashin-Beck Disease  
Keppen-Lubinsky Syndrome  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleefstra syndrome +   
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kosztolanyi Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
Laurin-Sandrow syndrome  
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Wood Syndrome 
Lujan Fryns Syndrome  
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrodactyly of the Hand 
Madelung Deformity 
Maffucci syndrome 
Mammary-Digital-Nail Syndrome 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall Syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephaly +   
Microcephaly with Mental Retardation and Digital Anomalies  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface dysplasia 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miura type epiphyseal chondrodysplasia  
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Muller Barth Menger Syndrome 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Neurofaciodigitorenal Syndrome 
Nievergelt Syndrome 
Noonan syndrome +   
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Oculootoradial Syndrome  
Odontotrichoungual-Digital-Palmar Syndrome 
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Orbital Margin, Hypoplasia of 
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
Osteoglophonic Dwarfism  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Pallister W Syndrome 
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Pashayan Syndrome 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Tietze Welte Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Posterior Exchondrosis of Pinna 
Potato Nose  
Preauricular Fistulae, Congenital 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Prieto syndrome 
Progeroid Facial Appearance with Hand Anomalies 
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
Pseudotrisomy 13 Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pubic Bone Dysplasia 
pycnodysostosis  
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Reardon Hall Slaney syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Field Coldwell syndrome 
Say Meyer Syndrome 
SC phocomelia syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Second Metatarsal-Metacarpal Syndrome 
Sener Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simosa Cranio Facial Syndrome 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slipped Capital Femoral Epiphyses 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Spinal Dysplasia, Anhalt Type 
Splenogonadal Fusion Limb Defects Micrognatia 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocamptodactyly 
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type 
Spondyloepiphyseal Dysplasia, Stanescu Type  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stoll Alembik Dott Syndrome 
Stuve-Wiedemann Syndrome  
Sweeney-Cox syndrome  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndromic X-linked intellectual disability Abidi type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synpolydactyly 2  
Tabatznik Syndrome 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetrasomy X 
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Tollner Horst Manzke Syndrome 
Tracheobronchopathia Osteoplastica 
Tricho-Dento-Osseous Syndrome  
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Tukel Syndrome 
Ulna Metaphyseal Dysplasia Syndrome 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Upington Disease 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verheij Syndrome  
Verloes Van Maldergem Marneffe Syndrome 
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weissenbacher-Zweymuller syndrome +   
Weyers Ulnar Ray/Oligodactyly Syndrome 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Wolcott-Rallison syndrome  
Worth's syndrome  
Zimmerman Laband Syndrome  

Synonyms
Primary IDs: MESH:C567578 ;   RDO:0015625

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