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Ontology Browser
Term:
Conductive Deafness with Ptosis and Skeletal Anomalies (DOID:9008149)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
bone development disease +     
Conductive Hearing Loss +     
ptosis +     
3MC syndrome 2  
Abruzzo-Erickson syndrome  
Acro-Osteolysis +   
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Angel Shaped Phalangoepiphyseal Dysplasia 
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  
Au-Kline Syndrome  
Baby Rattle Pelvis Dysplasia 
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome +   
Blepharoptosis, Myopia, and Ectopia Lentis 
Blount's disease 
BOUDIN-MORTIER SYNDROME  
Brachymesomelia Renal Syndrome 
Brittle Bone Disorder 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cervical Vertebral Dysplasia 
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 
CHIME syndrome  
CHOPS Syndrome  
Cleft Palate, Deafness, and Oligodontia 
clubfoot +   
Cochlear Deafness with Myopia and Intellectual Impairment 
Conductive Deafness with Malformed External Ear 
Conductive Deafness with Ptosis and Skeletal Anomalies 
Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 
congenital fibrosis of the extraocular muscles 2  
Congenital Myasthenic Syndrome, with Facial Dysmorphism 
congenital ptosis +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
craniolenticulosutural dysplasia  
developmental dysplasia of the hip +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Disproportionate Tall Stature  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Elsahy-Waters syndrome  
EVEN-PLUS SYNDROME  
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Gigantism +   
GOMBO Syndrome 
Gorham's disease +   
Gracile Bone Dysplasia  
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Gurrieri Sammito Bellussi Syndrome 
Hall Riggs Mental Retardation Syndrome 
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
jaw-winking syndrome  
Kantaputra Gorlin Syndrome 
KBG syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
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 +   
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
Marfan syndrome +   
Marshall-Smith syndrome  
Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 
McPherson Robertson Cammarano Syndrome 
Mehta Lewis Patton Syndrome 
Membranous Cranial Ossification, Delayed 
Mengel Konigsmark Syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
MICROMELIA  
Microtia, Meatal Atresia and Conductive Deafness 
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones  
Miura type epiphyseal chondrodysplasia  
multiple epiphyseal dysplasia with myopia and deafness  
Neural Deafness with Atypical Atopic Dermatitis 
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
nevoid basal cell carcinoma syndrome +   
Ohdo syndrome +   
Oliver-McFarlane syndrome  
Ophthalmoplegia Totalis with Ptosis and Miosis 
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 
Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 
Prenatal Bowing 
Progressive Deafness with Stapes Fixation 
Proteus syndrome +   
Ptosis, Strabismus, and Ectopic Pupils 
Radius Absent Anogenital Anomalies 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
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  
Santos Syndrome 
Schweitzer Kemink Graham 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 +   
SHOX-related short stature  
Shwachman-Diamond Syndrome 2  
Siegler Brewer Carey Syndrome 
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 
Stoll Levy Francfort Syndrome 
Treft Sanborn Carey Syndrome 
Trichoodontoonychial Dysplasia 
Tucker Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Van Bogaert-Hozay Syndrome 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
vitamin D-dependent rickets +   
Weismann Netter Syndrome 
Widow's Peak Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
X-linked deafness 2  

Synonyms
Exact Synonyms: Deafness Conductive Ptosis Skeletal Anomalies ;   Jackson Barr syndrome
Primary IDs: MESH:C535993
Alternate IDs: OMIM:221320

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