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:
expandbrachydactyly (disease) (MONDO:0021004)
Parent Node:
expandsyndrome with limb malformations as a major feature (MONDO:0015226)
..Starting node
..expandsyndrome with brachydactyly ()

       Child Nodes:
........expand2q37 microdeletion syndrome ()
........expandacrofacial dysostosis ()
........expandBallard syndrome ()
........expandbrachydactyly type A1 ()
........expandbrachydactyly type A2 ()
........expandbrachydactyly type A3 ()
........expandbrachydactyly type A4 ()
........expandbrachydactyly type A5 ()
........expandbrachydactyly type A6 ()
........expandbrachydactyly type A7 ()
........expandbrachydactyly type B ()
........expandbrachydactyly type B2 ()
........expandbrachydactyly type C ()
........expandbrachydactyly type D ()
........expandbrachydactyly type E ()
........expandbrachydactyly-arterial hypertension syndrome ()
........expandbrachydactyly-elbow wrist dysplasia syndrome ()
........expandbrachydactyly-long thumb syndrome ()
........expandbrachydactyly-preaxial hallux varus syndrome ()
........expandBrachymorphism-onychodysplasia-dysphalangism syndrome ()
........expandbrachytelephalangy-dysmorphism-Kallmann syndrome ()
........expandcamptobrachydactyly ()
........expandCoffin-Siris syndrome ()
........expandcognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome ()
........expandCooks syndrome ()
........expanddysostosis with brachydactyly with extraskeletal manifestations ()
........expanddysostosis with brachydactyly without extraskeletal manifestations ()
........expandfamilial digital arthropathy-brachydactyly ()
........expandFeingold syndrome ()
........expandhand-foot-genital syndrome ()
........expandhyperphosphatasia-intellectual disability syndrome ()
........expandintellectual disability-brachydactyly-Pierre Robin syndrome ()
........expandKeutel syndrome ()
........expandmicrocephaly-brachydactyly-kyphoscoliosis syndrome ()
........expandMononen-Karnes-Senac syndrome ()
........expandparaplegia-brachydactyly-cone-shaped epiphysis syndrome ()
........expandPoland syndrome ()
........expandPrata-Liberal-Goncalves syndrome ()
........expandRubinstein-Taybi syndrome ()
........expandskeletal dysplasia-epilepsy-short stature syndrome ()
........expandSugarman brachydactyly ()
........expandTELO2-related intellectual disability-neurodevelopmental disorder ()
........expandtemtamy preaxial brachydactyly syndrome ()
........expandthumb stiffness-brachydactyly-intellectual disability syndrome ()
........expandulnar/fibula ray defect-brachydactyly syndrome ()
........expandWeill-Marchesani syndrome ()



 Sister Nodes: 
..expandarthrogryposis syndrome ()
..expandcamptodactyly syndrome, Guadalajara type 3 ()
..expandcamptodactyly-taurinuria syndrome ()
..expandcaudal regression-sirenomelia spectrum ()
..expandcocoon syndrome ()
..expanddysostosis with combined reduction defects of upper and lower limbs ()
..expandEmery-Nelson syndrome ()
..expandextensor tendons of finger anomalies ()
..expandfamilial clubfoot with or without associated lower limb anomalies ()
..expandheart-hand syndrome ()
..expandotoonychoperoneal syndrome ()
..expandsplit hand-foot malformation 3 ()
..expandsyndrome with brachydactyly ()
..expandsyndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ()
..expandsyndrome with limb reduction defects ()
..expandsyndrome with synostosis or other joint formation defect ()
..expandthumb deformity-alopecia-pigmentation anomaly syndrome ()
..expandX-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19066
Name:syndrome with brachydactyly
Definition:Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:dysostosis with brachydactyly
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal