Disease Browser
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Parent Node: Intellectual Disability (D008607) | Parent Node: Microcephaly (D008831) | Parent Node: Spinal Muscular Atrophies of Childhood (D014897) | ..Starting node ..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
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Sister Nodes: | ..Amyotrophy, monomelic (C538253)
| ..Hamano Tsukamoto syndrome (C535625)
| ..Muscular atrophy, spinal, infantile chronic form (C536879)
| ..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
| ..Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant (C563560)
| ..Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (C567023)
| ..Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (C564805)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 10486 |
Name: | Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D008607|MESH:D008831|MESH:D014897 |
TreeNumbers: | C05.660.207.620/C564806 |C10.228.854.468.800/C564806 |C10.500.507.400.500/C564806 |C10.574.500.812/C564806 |C10.574.562.500.750/C564806 |C10.597.606.643/C564806 |C10.668.467.500.750/C564806 |C10.668.475.500/C564806 |C16.131.621.207.620/C564806 |C16.131.666.507.40 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C564806
MeSH: C564806
OMIM: 271110;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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