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Ontology Browser

Term:
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (DOID:9004825)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
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  
autoimmune disease of central nervous system +   
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Baby Rattle Pelvis Dysplasia 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome  
Blount's disease 
Brachymesomelia Renal Syndrome 
brain disease +   
Brittle Bone Disorder 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Central Nervous System Infections +   
Central Nervous System Neoplasms +   
Cervical Vertebral Dysplasia 
CHOPS Syndrome  
clubfoot +   
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
craniolenticulosutural dysplasia  
Deafness Conductive Ptosis Skeletal Anomalies 
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Disproportionate Tall Stature  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Elsahy-Waters syndrome  
encephalomyelitis +   
endocrine-cerebro-osteodysplasia syndrome  
epidural abscess 
EVEN-PLUS SYNDROME  
Flynn Aird Syndrome 
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Gigantism +   
Gorham's disease +  
Gracile Bone Dysplasia  
Gurrieri Sammito Bellussi Syndrome 
Hall Riggs Mental Retardation Syndrome 
hemiplegia +   
high pressure neurological syndrome 
hyperekplexia +   
intracranial abscess 
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 
Marfan syndrome +   
Marshall-Smith syndrome  
maturity-onset diabetes of the young type 5  
Membranous Cranial Ossification, Delayed 
meningitis +   
meningoencephalitis +   
Mesomelic Limb Shortening and Bowing 
Miura type epiphyseal chondrodysplasia  
movement disease +   
neurodegenerative disease +   
neuronitis 
neurosarcoidosis +  
nevoid basal cell carcinoma syndrome +   
ocular motility disease +   
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
paraplegia +   
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
Platybasia +  
Pneumocephalus 
Pointer Syndrome 
Prenatal Bowing 
Proteus syndrome +   
quadriplegia +   
Radius Absent Anogenital Anomalies 
Retrograde Degeneration  
Rhizomelic Dysplasia Patterson Lowry 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 
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 
spinal cord disease +   
split hand-foot malformation +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
Striatal Degeneration, Autosomal Dominant +   
Subacute Cerebellar Degeneration 
Subacute Combined Degeneration  
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
vitamin D-dependent rickets +   
Wallerian Degeneration +   
Weismann Netter Syndrome 
Wiedemann Oldigs Oppermann Syndrome 

Synonyms
Primary IDs: MESH:C566514
Alternate IDs: OMIM:602613

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