MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
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congenital abnormality (MONDO:0000839)
Parent Node:
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disorder of development or morphogenesis (MONDO:0021147)
..Starting node
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developmental defect during embryogenesis ()

       Child Nodes:
........expandbranchial arch or oral-acral syndrome ()
........expandcentral nervous system malformation ()
........expandchromosomal anomaly ()
........expandcongenital anomaly of kidney and urinary tract ()
........expandcongenital limb malformation ()
........expandcranial malformation ()
........expanddevelopmental anomaly of metabolic origin ()
........expanddevelopmental defect of the eye ()
........expanddiaphragmatic or abdominal wall malformation ()
........expanddigestive tract malformation ()
........expandhydrops fetalis (disease) ()
........expandmalformation syndrome with hamartosis ()
........expandmalformation syndrome with odontal and/or periodontal component ()
........expandmalformation syndrome with short stature ()
........expandmalformation syndrome with skin/mucosae involvement ()
........expandmultiple congenital anomalies/dysmorphic syndrome ()
........expandovergrowth/obesity syndrome ()
........expandprogeroid syndrome ()
........expandrare developmental defect with connective tissue involvement ()
........expandrare head and neck malformation ()
........expandrare teratologic disease ()
........expandrespiratory or mediastinal malformation ()
........expandsex differentiation disease ()
........expandsyndromic genetic deafness ()
........expandurogenital tract malformation ()
........expandvisceral malformation of the liver, biliary tract, pancreas or spleen ()



 Sister Nodes: 
..expandbranchial arch disease ()
..expandcartilage development disorder ()
..expandcongenital anomaly of cardiovascular system ()
..expandcongenital enteropathy involving intestinal mucosa development ()
..expandcongenital hydrocephalus ()
..expanddemyelinating disease ()
..expanddevelopmental defect during embryogenesis ()
..expandfemale infertility due to an implantation defect ()
..expandgenetic cardiac anomaly ()
..expandgenetic head and neck malformation ()
..expandgenetic vascular anomaly ()
..expandhereditary gingival fibromatosis ()
..expandkeratinization disease ()
..expandlactation disease ()
..expandloose anagen syndrome ()
..expandneurocristopathy ()
..expandprecocious puberty ()
..expandpreimplantation embryonic lethality ()
..expandpremature aging ()
..expandrare genetic bone development disorder ()
..expandT-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19755
Name:developmental defect during embryogenesis
Definition:A disease that has its basis in the disruption of embryonic morphogenesis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:congenital malformation syndrome; developmental defect during embryogenesis; disorder of embryonic morphogenesis; disorder of embryonic morphogenesis; embryonic morphogenesis disease; malformation syndrome; rare developmental defect during embryogenesis
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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