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:
expanddermis elastic tissue disorder (MONDO:0019292)
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expandgenetic systemic or rheumatologic disease (MONDO:0017133)
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expandmalformation syndrome with skin/mucosae involvement (MONDO:0015331)
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expandrare developmental defect with connective tissue involvement (MONDO:0015332)
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expandsystemic disease (MONDO:0015938)
..Starting node
..expandEhlers-Danlos syndrome ()

       Child Nodes:
........expandbrittle cornea syndrome ()
........expandEhlers-Danlos syndrome due to tenascin-X deficiency ()
........expandEhlers-Danlos syndrome progeroid type ()
........expandEhlers-Danlos syndrome type 11 ()
........expandEhlers-Danlos syndrome with periventricular heterotopia ()
........expandEhlers-Danlos syndrome, arthrochalasis type ()
........expandEhlers-Danlos syndrome, autosomal dominant, type unspecified ()
........expandEhlers-Danlos syndrome, Beasley-Cohen type ()
........expandEhlers-Danlos syndrome, cardiac valvular type ()
........expandEhlers-Danlos syndrome, classic type ()
........expandehlers-danlos syndrome, classic-like, 2 ()
........expandEhlers-Danlos syndrome, dermatosparaxis type ()
........expandEhlers-Danlos syndrome, fibronectinemic type ()
........expandEhlers-Danlos syndrome, hypermobility type ()
........expandEhlers-Danlos syndrome, kyphoscoliotic and deafness type ()
........expandEhlers-Danlos syndrome, kyphoscoliotic type ()
........expandEhlers-Danlos syndrome, musculocontractural type ()
........expandEhlers-Danlos syndrome, periodontitis type ()
........expandEhlers-Danlos syndrome, spondylocheirodysplastic type ()
........expandEhlers-Danlos syndrome, vascular type ()
........expandEhlers-Danlos syndrome, vascular-like type ()
........expandEhlers-Danlos/osteogenesis imperfecta syndrome ()
........expandHernandez Aguirre-Negrete syndrome ()
........expandX-linked Ehlers-Danlos syndrome ()



 Sister Nodes: 
..expandamyloidosis (disease) ()
..expandcalciphylaxis ()
..expandcapillary leak syndrome ()
..expandconnective tissue disorder due to lysyl hydroxylase-3 deficiency ()
..expandEhlers-Danlos syndrome ()
..expandhereditary hemorrhagic telangiectasia ()
..expandhypoplasminogenemia ()
..expandKikuchi-Fujimoto disease ()
..expandKimura disease ()
..expandLangerhans cell histiocytosis ()
..expandmacrophage activation syndrome ()
..expandmalignant atrophic papulosis ()
..expandMarfan and Marfan-related disorder ()
..expandmyalgia-eosinophilia syndrome associated with tryptophan ()
..expandnon-Langerhans cell histiocytosis ()
..expandpostorgasmic illness syndrome ()
..expandprogeroid and marfanoid aspect-lipodystrophy syndrome ()
..expandretinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome ()
..expandReye syndrome ()
..expandrheumatic fever ()
..expandsarcoidosis ()
..expandsystemic autoimmune disease ()
..expandsystemic disease with cataract ()
..expandsystemic disease with skin involvement ()
..expandsystemic diseases with anterior uveitis ()
..expandsystemic diseases with panuveitis ()
..expandsystemic diseases with posterior uveitis ()
..expandTAFRO syndrome ()
..expandtempi syndrome ()
..expandunexplained long-lasting fever/inflammatory syndrome ()
..expandX-linked reticulate pigmentary disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20066
Name:Ehlers-Danlos syndrome
Definition:The EhlersbDanlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
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Synonyms:ED syndrome; EDS; Ehlers Danlos syndrome; Ehlers-Danlos syndromes; elastic skin
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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