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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
chromosome 1q41-q42 deletion syndrome +   
combined oxidative phosphorylation deficiency 55  
congenital nystagmus 1  
distal arthrogryposis type 1C  
dopamine transporter deficiency syndrome +   
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
glucose transporter type 1 deficiency syndrome +   
hereditary spastic paraplegia 30 +   
hypophosphatasia +   
McCune Albright syndrome  
neurodevelopmental disorder with hypotonia and speech delay  
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
Spondylocostal Dysostosis 4, Autosomal Dominant 
spondylocostal dysostosis 5  
A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 
Spondylocostal Dysostosis, Autosomal Recessive +   
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8 
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: SCDO5 ;   TACS ;   TBX6-associated congenital scoliosis ;   congenital scoliosis with or without rib anomalies ;   spondylothoracic dysostosis
Related Synonyms: SPONDYLOCOSTAL DYSPLASIA
Alternate IDs: DOID:9005408
Xrefs: MIM:122600 ;   MONDO:0007389
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/23335591/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/25564734/ "DO" "DO"

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