MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandinherited nervous system cancer-predisposing syndrome (MONDO:0016756)
Parent Node:
expandlens shape anomaly (MONDO:0020237)
Parent Node:
expandmalformation syndrome with short stature (MONDO:0015329)
Parent Node:
expandpolymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
Parent Node:
expandrare disease with glaucoma as a major feature (MONDO:0020222)
Parent Node:
expandsyndrome with brachydactyly (MONDO:0019066)
Parent Node:
expandsyndromic genetic obesity (MONDO:0016565)
Parent Node:
expandsyndromic renal or urinary tract malformation (MONDO:0019721)
Parent Node:
expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandRubinstein-Taybi syndrome ()

       Child Nodes:
........expandchromosome 16p13.3 deletion syndrome ()
........expandRubinstein-Taybi syndrome due to 16p13.3 microdeletion ()
........expandRubinstein-Taybi syndrome due to CREBBP mutations ()
........expandRubinstein-Taybi syndrome due to EP300 haploinsufficiency ()



 Sister Nodes: 
..expandautosomal dominant osteopetrosis 2 ()
..expandBardet-Biedl syndrome ()
..expandcone-rod dystrophy ()
..expandcongenital hypotrichosis with juvenile macular dystrophy ()
..expandcystoid macular edema ()
..expandenhanced S-cone syndrome ()
..expandFarber lipogranulomatosis ()
..expandfoveal hypoplasia-presenile cataract syndrome ()
..expandgalactosialidosis ()
..expandGM1 gangliosidosis ()
..expandHermansky-Pudlak syndrome 2 ()
..expandinfantile Refsum disease ()
..expandKrabbe disease ()
..expandLaurence-Moon syndrome ()
..expandLeigh disease ()
..expandmetachromatic leukodystrophy ()
..expandmucolipidosis type IV ()
..expandneuronal ceroid lipofuscinosis ()
..expandNiemann-Pick disease type C ()
..expandRubinstein-Taybi syndrome ()
..expandSjogren-Larsson syndrome ()
..expandSorsby's fundus dystrophy ()
..expandX-linked retinoschisis ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19188
Name:Rubinstein-Taybi syndrome
Definition:Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:Broad thumb-hallux syndrome; Broad thumbs-halluces syndrome; proximal chromosome 16p13.3 deletion syndrome; RSTS; Rubinstein syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal