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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Developmental Disabilities (D002658)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Ectromelia (D004480)
..Starting node ..Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
Child Nodes:
Sister Nodes:
..Absence of Tibia (C535563)
..Al Awadi syndrome (C535612)
..Amelia and Terminal Transverse Hemimelia (C566294)
..Amelia, Autosomal Recessive (C563338)
..DK Phocomelia Syndrome (C565618)
..Johnson Munson syndrome (C535881)
..Laurin-Sandrow syndrome (C535689)
..Madokoro Ohdo Sonoda syndrome (C537838)
..Mermaid syndrome (C538595)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Richieri Costa Da Silva syndrome (C535675)
..Roberts Syndrome (C535687)
..Rudd Klimek syndrome (C535879)
..Selig Benacerraf Greene syndrome (C535840)
..Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..Tetra-amelia autosomal recessive (C536498)
..Tetra-amelia with pulmonary hypoplasia (C536499)
..Tetraamelia multiple malformations (C536500)
..Tetraphocomelia-Thrombocytopenia Syndrome (C564771)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..X-linked tetra-amelia (C536497)
..Yim Ebbin syndrome (C536713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10942
Name:	Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
Definition:
Alternative IDs:
ParentIDs:	MESH:D002658\|MESH:D004476\|MESH:D004480
TreeNumbers:	C05.660.585.350/C536496 \|C16.131.077.350/C536496 \|C16.131.621.585.350/C536496 \|C16.131.831.350/C536496 \|C16.320.850.250/C536496 \|C17.800.804.350/C536496 \|C17.800.827.250/C536496 \|F03.550.362/C536496
Synonyms:	Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities \|Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Skin disease
Reference:	MedGen: C536496 MeSH: C536496 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants