MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expanddevelopmental defect during embryogenesis (MONDO:0019755)
..Starting node
..expandmalformation syndrome with skin/mucosae involvement ()

       Child Nodes:
........expandacrodermatitis enteropathica ()
........expandaplasia cutis congenita-intestinal lymphangiectasia syndrome ()
........expandaplasia cutis-myopia syndrome ()
........expandAscher syndrome ()
........expandataxia telangiectasia ()
........expandBazex-Dupre-Christol syndrome ()
........expandcavernous hemangiomas of face-supraumbilical midline raphe syndrome ()
........expandchild syndrome ()
........expandCockayne syndrome ()
........expandCostello syndrome ()
........expandcutis laxa ()
........expanddystrophic epidermolysis bullosa ()
........expandectodermal dysplasia syndrome ()
........expandEhlers-Danlos syndrome ()
........expandepidermolysis bullosa simplex with muscular dystrophy ()
........expandfacial dysmorphism-immunodeficiency-livedo-short stature syndrome ()
........expandhereditary hemorrhagic telangiectasia ()
........expandHutchinson-Gilford progeria syndrome ()
........expandichthyosis follicularis-alopecia-photophobia syndrome ()
........expandichthyosis-oral and digital anomalies syndrome ()
........expandichthyosis-short stature-brachydactyly-microspherophakia syndrome ()
........expandinfantile systemic hyalinosis ()
........expandinherited pseudoxanthoma elasticum ()
........expandisolated congenital adermatoglyphia ()
........expandisolated congenital anonychia ()
........expandjunctional epidermolysis bullosa ()
........expandlethal restrictive dermopathy ()
........expandlipoid proteinosis ()
........expandmicrophthalmia with linear skin defects syndrome ()
........expandneuroectodermal melanolysosomal disease ()
........expandNoonan syndrome with multiple lentigines ()
........expandpachyonychia congenita ()
........expandPCNA-related progressive neurodegenerative photosensitivy syndrome ()
........expandprogeria-short stature-pigmented nevi syndrome ()
........expandWaardenburg syndrome ()
........expandWerner syndrome ()
........expandWiedemann-Rautenstrauch syndrome ()
........expandxeroderma pigmentosum ()
........expandxeroderma pigmentosum-Cockayne syndrome complex ()



 Sister 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 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15331
Name:malformation syndrome with skin/mucosae involvement
Definition:
Alternative IDs:
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Synonyms:
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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