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:
expanddysostosis with limb anomaly as a major feature (MONDO:0018235)
Parent Node:
expandsyndrome with limb malformations as a major feature (MONDO:0015226)
..Starting node
..expandsyndrome with limb reduction defects ()

       Child Nodes:
........expandabsence deformity of leg-cataract syndrome ()
........expandabsent radius-anogenital anomalies syndrome ()
........expandabsent tibia-polydactyly syndrome ()
........expandabsent tibia-polydactyly-arachnoid cyst syndrome ()
........expandAdams-Oliver syndrome ()
........expandADULT syndrome ()
........expandankyloblepharon-ectodermal defects-cleft lip/palate syndrome ()
........expandAphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ()
........expandaphalangy-syndactyly-microcephaly syndrome ()
........expandautosomal recessive amelia ()
........expandcamptodactyly syndrome, Guadalajara type 2 ()
........expandCornelia de Lange syndrome ()
........expandDuane-radial ray syndrome ()
........expandEEC syndrome ()
........expandEEM syndrome ()
........expandFanconi anemia ()
........expandfemoral-facial syndrome ()
........expandfibular aplasia-tibial campomelia-oligosyndactyly syndrome ()
........expandfibular hypoplasia and complex brachydactyly ()
........expandFuhrmann syndrome ()
........expandGollop-Wolfgang complex ()
........expandhereditary thrombocytosis with transverse limb defect ()
........expandHolt-Oram syndrome ()
........expandhumerus trochlea aplasia ()
........expandhypoglossia-hypodactyly syndrome ()
........expandintellectual disability-spasticity-ectrodactyly syndrome ()
........expandIVIC syndrome ()
........expandKarsch-Neugebauer syndrome ()
........expandlethal faciocardiomelic dysplasia ()
........expandlimb transversal defect-cardiac anomaly syndrome ()
........expandlimb-mammary syndrome ()
........expandmammary-digital-nail syndrome ()
........expandomphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ()
........expandpelvis-shoulder dysplasia ()
........expandpelviscapular dysplasia ()
........expandphocomelia, Schinzel type ()
........expandphocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome ()
........expandpostaxial tetramelic oligodactyly ()
........expandradio-renal syndrome ()
........expandrapadilino syndrome ()
........expandRoberts syndrome ()
........expandshoulder and thorax deformity-congenital heart disease syndrome ()
........expandsplenogonadal fusion-limb defects-micrognathia syndrome ()
........expandsplit hand-foot malformation 1 with sensorineural hearing loss ()
........expandsplit-foot malformation-mesoaxial polydactyly syndrome ()
........expandtetraamelia-multiple malformations syndrome ()
........expandtetramelic monodactyly ()
........expandthalidomide embryopathy ()
........expandthrombocytopenia-absent radius syndrome ()
........expandtibial aplasia-ectrodactyly syndrome ()
........expandulna hypoplasia-intellectual disability syndrome ()
........expandulnar-mammary 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:17432
Name:syndrome with limb reduction defects
Definition:
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Synonyms:
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal