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Ontology Browser

Term:
Desbuquois dysplasia (DOID:0060462)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
Joint Instability +     
polydactyly +     
22q11 Deletion Syndrome +   
3-M syndrome +   
3MC syndrome +   
Aarskog syndrome +   
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Abuse Dwarfism Syndrome 
Achard syndrome 
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Akaba Hayasaka Syndrome 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
AMED syndrome  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex  
anauxetic dysplasia +   
arterial tortuosity syndrome  
Arthrogryposis Multiplex Congenita Whistling Face 
asphyxiating thoracic dystrophy +   
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
atelosteogenesis +   
Atelosteogenesis Type 3  
Au-Kline Syndrome  
Auriculoosteodysplasia 
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Bangstad Syndrome 
Baraitser-Winter syndrome +   
Beukes hip dysplasia  
Biemond Syndrome II 
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Blount's disease 
Boomerang dysplasia  
Brachydactylous Dwarfism Mseleni Type 
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia +   
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Brittle Cornea Syndrome +   
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Caffey disease +   
calvarial doughnut lesions with bone fragility  
Calvarial Hyperostosis 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
Camurati-Engelmann disease +   
Cantu Sanchez-Corona Fragoso Syndrome 
Cardioacrofacial Dysplasia +   
Cartilage Hair Hypoplasia Like Syndrome  
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal 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-pseudohermaphroditism syndrome  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
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, 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 
Cockayne syndrome +   
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital hypothyroidism +   
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 +   
Crossed Polydactyly, Type I  
Crossed Polysyndactyly 
Culler-Jones syndrome  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Cutaneous Hemangiomatosis with Associated Features 
Czech Dysplasia, Metatarsal Type  
Daish Hardman Lamont Syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione syndrome  
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)
Diaphanospondylodysostosis  
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diastrophic dysplasia +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal arthrogryposis type 6 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyschondrosteosis and Nephritis 
Dyssegmental Dysplasia with Glaucoma 
Eagle Syndrome 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ehlers-Danlos syndrome spondylodysplastic type 3  
Eiken syndrome  
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  
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 
Familial Joint Laxity +   
Familial Osteodysplasia, Anderson Type 
Familial Recurrent Dislocation of Patella 
Familial Synovial Chondromatosis with Dwarfism 
Faye-Petersen Ward Carey Syndrome 
fetal encasement syndrome  
FG Syndrome 5 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Garret Tripp Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
geroderma osteodysplasticum  
Ghosal hematodiaphyseal syndrome  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Greenberg dysplasia  
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hennekam syndrome +   
Hirschsprung Disease Polydactyly Heart Disease 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 
holoprosencephaly +   
holoprosencephaly 9  
Humeroradial Synostosis with Craniofacial Anomalies 
hydrolethalus syndrome +   
Hyperostosis Frontalis Interna +  
Hypertelorism +   
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypoplastic or aplastic tibia with polydactyly  
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
IMAGe syndrome  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
intellectual developmental disorder with short stature and behavioral abnormalities  
isolated growth hormone deficiency +   
Jaffer Beighton Syndrome 
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome 
Kashin-Beck Disease  
Kenny-Caffey syndrome type 2  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
KINSSHIP SYNDROME  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kosztolanyi Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kozlowski-Krajewska Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
Laurence Prosser Rocker Syndrome 
Leichtman Wood Rohn Syndrome 
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Lessel-Kubisch Syndrome  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
linear skin defects with multiple congenital anomalies 2  
Liver Fibrocystic Disease and Polydactyly 
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Wood Syndrome  
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome 
Mandibuloacral Dysplasia Progeroid Syndrome  
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Maroteaux Fonfria Syndrome 
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
McKusick-Kaufman syndrome  
Meckel syndrome 13  
Meckel syndrome 4  
Meckel-Like Cerebrorenodigital Syndrome 
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Megarbane Syndrome 
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, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Camera Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Mexican Cardiomelic Dysplasia 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
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  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
mulibrey nanism  
Mullegama-Klein-Martinez 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 WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
Nievergelt Syndrome 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Odontochondrodysplasia 2 with Hearing Loss and Diabetes  
Oliver-McFarlane syndrome  
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Ossification of Posterior Longitudinal Ligament +   
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal recessive  
Pallister W Syndrome 
Pallister-Hall syndrome +   
Panic Disorder with Joint Laxity 
parastremmatic dwarfism  
Pashayan Syndrome 
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Mayer Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydactyly Myopia Syndrome 
Polydysspondyly 
Postaxial Polydactyly +   
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Preaxial Polydactyly +   
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Prieto syndrome 
progressive osseous heteroplasia  
progressive pseudorheumatoid arthropathy of childhood  
Proportionate Dwarfism, with Hip Dislocation 
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
Pseudodiastrophic Dysplasia 
Pseudotrisomy 13 Syndrome  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pubic Bone Dysplasia 
pycnodysostosis  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
rapadilino syndrome  
Reardon Hall Slaney syndrome 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Ruvalcaba Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
SAPHO syndrome  
Saul-Wilson syndrome  
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
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 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Sener Syndrome 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simosa Cranio Facial Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slipped Capital Femoral Epiphyses 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Spinal Dysplasia, Anhalt Type 
Splenogonadal Fusion with Limb Defects and Micrognathia 
Split-Foot Malformation with Mesoaxial Polydactyly  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepimetaphyseal dysplasia with joint laxity +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepiphyseal dysplasia +   
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia +   
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Spondyloocular Syndrome, Autosomal Recessive  
spondyloperipheral dysplasia  
Spondylospinal Thoracic Dysostosis 
Stuve-Wiedemann Syndrome  
Superior Transverse Scapular Ligament, Calcification Of, Familial 
Sweeney-Cox syndrome  
syndactyly type 4  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Synpolydactyly 2  
Synpolydactyly 3 
Synpolydactyly with Foot Anomalies 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
terminal osseous dysplasia  
Tetrasomy X 
Thai Symphalangism Syndrome 
thanatophoric dysplasia +   
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Tibia Absent Polydactyly Arachnoid Cyst 
Tollner Horst Manzke Syndrome 
Tracheobronchopathia Osteoplastica 
trichodontoosseous syndrome  
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Tryptophanuria with Dwarfism 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Verloes Van Maldergem Marneffe Syndrome 
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weaver syndrome  
Weill-Marchesani syndrome +   
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Wolcott-Rallison syndrome  
Worth syndrome  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Desbuquois Syndrome ;   micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Narrow Synonyms: Desbuquois dysplasia, Kim variant
Primary IDs: MESH:C535943
Xrefs: GARD:1818 ;   NCI:C124056 ;   OMIM:PS251450 ;   ORDO:1425
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19853239 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21037275 "DO" "DO"

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