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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: Abnormalities, Multiple (D000015)
Parent Node: Ectromelia (D004480)
..Starting node ..Tetraamelia multiple malformations (C536500)
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:	10941
Name:	Tetraamelia multiple malformations
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D004480
TreeNumbers:	C05.660.585.350/C536500 \|C16.131.077/C536500 \|C16.131.621.585.350/C536500
Synonyms:	Zimmer phocomelia \|Zimmer Taub Sova syndrome
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C536500 MeSH: C536500 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants