Disease Browser
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Parent Node: Ectromelia (D004480) | ..Starting node ..Amelia, Autosomal Recessive (C563338)
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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)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 529 |
Name: | Amelia, Autosomal Recessive |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D004480 |
TreeNumbers: | C05.660.585.350/C563338 |C16.131.621.585.350/C563338 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Musculoskeletal disease |
Reference: |
MedGen: C563338
MeSH: C563338
OMIM: 601360;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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