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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Absent Patella 
Acro-Osteolysis +   
acromesomelic dysplasia, Grebe type  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Angel Shaped Phalangoepiphyseal Dysplasia 
Antecubital Pterygium 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
arthrogryposis multiplex congenita +   
Au-Kline Syndrome  
Baby Rattle Pelvis Dysplasia 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome +   
Blount's disease 
BOUDIN-MORTIER SYNDROME  
Brachymesomelia Renal Syndrome 
Brittle Bone Disorder 
campomelic dysplasia +   
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cervical Rib Syndrome +  
Cervical Vertebral Dysplasia 
CHOPS Syndrome  
CLOVES syndrome  
clubfoot +   
Cohen-Gibson Syndrome  
Conductive Deafness with Ptosis and Skeletal Anomalies 
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
Craniofacial Abnormalities +   
craniolenticulosutural dysplasia  
developmental dysplasia of the hip +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Disproportionate Tall Stature  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Elsahy-Waters syndrome  
EVEN-PLUS SYNDROME  
Female Pseudohermaphroditism with Skeletal Anomalies 
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.
gastroschisis +   
Gigantism +   
Gorham's disease +   
Gracile Bone Dysplasia  
Gurrieri Sammito Bellussi Syndrome 
Hajdu-Cheney syndrome  
Hall Riggs Mental Retardation Syndrome 
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
Iridogoniodysgenesis and Skeletal Anomalies 
Kantaputra Gorlin Syndrome 
KBG syndrome  
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
laryngomalacia +   
Leg Length Inequality 
Lenz-Majewski hyperostotic dwarfism  
Lethal Bone Dysplasia, Holmgren Type 
Lissencephaly Type III and Bone Dysplasia 
Macroepiphyseal Dysplasia, McAlister Coe Type 
mandibuloacral dysplasia +   
Marfan syndrome +   
Marshall-Smith syndrome  
Membranous Cranial Ossification, Delayed 
Mesomelic Limb Shortening and Bowing 
microcephaly, short stature, and limb abnormalities  
MICROMELIA  
Miura type epiphyseal chondrodysplasia  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
nevoid basal cell carcinoma syndrome +   
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES  
Platybasia +  
Pointer Syndrome 
Prenatal Bowing 
Proteus syndrome +   
Pseudoarthrogryposis 
Radius Absent Anogenital Anomalies 
Rhizomelic Dysplasia Patterson Lowry Type 
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Roifman-Chitayat Syndrome  
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
Santos Syndrome 
Short Stature with Nonspecific Skeletal Abnormalities  
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 +   
SHOX-related short stature  
Shwachman-Diamond Syndrome 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 
split hand-foot malformation +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spranger Schinzel Myers Syndrome 
Steel Syndrome  
Sternal Cleft 
Stolerman neurodevelopmental syndrome  
Stoll Levy Francfort Syndrome 
synostosis +   
Tracheobronchomalacia +   
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
vitamin D-dependent rickets +   
Weismann Netter Syndrome 
Widow's Peak Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: funnel chests ;   pectus excavatum
Primary IDs: MESH:D005660
Alternate IDs: OMIM:169300
Definition Sources: MESH:D005660

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