Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00633 (Tree)
Name	Spondyloepiphyseal dysplasia with congenital joint dislocations
Aliases	Spondyloepiphyseal dysplasia, Omani type
Disease name:　Preferred Term	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Disease name:　Synonyms (from OMIM and MeSH)	CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS HUMEROSPINAL DYSOSTOSIS SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE HSD CDMD
UMLS CUI	C1837657
UMLS SAB	MeSH (SCR)
UMLS CODE	C535789
OMIM DATA:　Gene	CHST3
OMIM DATA:　Gene Number	603799
OMIM DATA:　Phenotype Number	143095
Symptoms, signs and abnormal clinical and laboratory findings	Arthritis Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Connective Tissue Diseases Craniofacial Abnormalities Dwarfism (Short stature disorder) Hearing Disorders Hearing Loss (Hearing impairment) Heart Defects, Congenital Heart Diseases Hip Dislocation, Congenital Joint Diseases Kyphosis Limb Deformities, Congenital Maxillofacial Abnormalities Mobility Limitation Musculoskeletal Abnormalities Musculoskeletal Diseases Signs and Symptoms Skin and Connective Tissue Diseases Spinal Curvatures Spinal Diseases Stomatognathic System Abnormalities Brachydactyly Clubfoot (Congenital talipes equinovarus) Collagen Diseases Dislocations (Joint dislocations) Foot Deformities, Congenital Genu Valgum (Knee joint valgus deformity) Hand Deformities, Congenital Hypertelorism Osteochondrodysplasias Osteogenesis Imperfecta Scoliosis Spondylosis Tooth Abnormalities Upper Extremity Deformities, Congenital Wounds and Injuries Craniofacial Dysostosis
References	Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
GGDB (Gene Symbol) Link to the GlycoGene Database	CHST3