MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandmultiple congenital anomalies/dysmorphic syndrome without intellectual disability (MONDO:0015161)
..Starting node
..expandgenetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability ()

       Child Nodes:
........expand3-M syndrome ()
........expandAase-Smith syndrome ()
........expandAckerman syndrome ()
........expandacro-renal-mandibular syndrome ()
........expandacrocraniofacial dysostosis ()
........expandacrofacial dysostosis, Weyers type ()
........expandacrorenal syndrome ()
........expandAlagille syndrome ()
........expandalar cartilages hypoplasia-coloboma-telecanthus syndrome ()
........expandAscher syndrome ()
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........expandBarber-Say syndrome ()
........expandBeare-Stevenson cutis gyrata syndrome ()
........expandBeemer-Ertbruggen syndrome ()
........expandBencze syndrome ()
........expandbinder syndrome ()
........expandblepharo-cheilo-odontic syndrome ()
........expandblepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ()
........expandbrachytelephalangy-dysmorphism-Kallmann syndrome ()
........expandbranchio-oto-renal syndrome ()
........expandbranchiooculofacial syndrome ()
........expandcamptodactyly syndrome, Guadalajara type 1 ()
........expandcamptodactyly syndrome, Guadalajara type 2 ()
........expandcataract-aberrant oral frenula-growth delay syndrome ()
........expandcherubism ()
........expandcleft palate-lateral synechia syndrome ()
........expandCooper-Jabs syndrome ()
........expandcraniofacial-deafness-hand syndrome ()
........expandcryptomicrotia-brachydactyly-excess fingertip arch syndrome ()
........expandCyprus facial-neuromusculoskeletal syndrome ()
........expandCzeizel-Losonci syndrome ()
........expanddeafness-craniofacial syndrome ()
........expandexternal auditory canal atresia-vertical talus-hypertelorism syndrome ()
........expandfemoral-facial syndrome ()
........expandfetal akinesia deformation sequence ()
........expandflat face-microstomia-ear anomaly syndrome ()
........expandfreeman-Sheldon syndrome ()
........expandGordon syndrome ()
........expandhand-foot-genital syndrome ()
........expandheart defect - tongue hamartoma - polysyndactyly syndrome ()
........expandheart defects-limb shortening syndrome ()
........expandHolt-Oram syndrome ()
........expandhypertelorism, Teebi type ()
........expandJuberg-Hayward syndrome ()
........expandLADD syndrome ()
........expandMarshall syndrome ()
........expandmedian nodule of the upper lip ()
........expandmicrocephaly-albinism-digital anomalies syndrome ()
........expandmullerian duct anomalies-limb anomalies syndrome ()
........expandmultinodular goiter-cystic kidney-polydactyly syndrome ()
........expandNager acrofacial dysostosis ()
........expandnasopalpebral lipoma-coloboma syndrome ()
........expandNoonan syndrome with multiple lentigines ()
........expandoculoauriculovertebral spectrum with radial defects ()
........expandPAGOD syndrome ()
........expandposterior fusion of lumbosacral vertebrae-blepharoptosis syndrome ()
........expandradial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ()
........expandscalp-ear-nipple syndrome ()
........expandSchilbach-Rott syndrome ()
........expandshort stature-craniofacial anomalies-genital hypoplasia syndrome ()
........expandshort stature-valvular heart disease-characteristic facies syndrome ()
........expandStickler syndrome type 3 ()
........expandTownes-Brocks syndrome ()
........expandTreacher-Collins syndrome ()
........expandventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome ()
........expandVerloove Vanhorick-Brubakk syndrome ()



 Sister Nodes: 
..expandgenetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability ()
..expandrenal-genital-middle ear anomalies ()
..expandVACTERL/vater association ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:43008
Name:genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Definition:An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome.
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Synonyms:genetic MCA; genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism); hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
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