MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: dysostosis (MONDO:0018234)
Parent Node: vertebral column disease (MONDO:0000812)
..Starting node ..spondylocostal dysostosis ()
Child Nodes:
........autosomal dominant spondylocostal dysostosis ()
........autosomal recessive spondylocostal dysostosis ()
........spondylocostal dysostosis 5 ()
Sister Nodes:
..Baastrup syndrome ()
..coccygodynia ()
..epidural spinal canal neoplasm ()
..lumbosacral lipoma ()
..sacrococcygeal teratoma ()
..sacrum chordoma ()
..spinal injury ()
..spinal stenosis ()
..spondylocostal dysostosis ()
..tuberculosis, spinal ()
..vertebral disease ()
..vertebral joint disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	359
Name:	spondylocostal dysostosis
Definition:	Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	costovertebral dysplasia; Jarcho-Levin syndrome; SCD; SCDO; spondylocostal dysostosis; spondylocostal dysplasia; spondylothoracic dysostosis; spondylothoracic dysplasia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal