| Disease Browser
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Parent Node:
 Amino Acid Metabolism, Inborn Errors (D000592) | Parent Node:
Dwarfism (D004392) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Muscular Dystrophies (D009136) | Parent Node:
Osteoporosis (D010024) | ..Starting node
.. Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
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Child Nodes:
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Sister Nodes: | ..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
| ..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
| ..Exudative vitreoretinopathy 1 (C536382)
| ..Female Athlete Triad Syndrome (D053716)
| ..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| ..Hernandez Fragoso syndrome (C536062)
| ..Juvenile osteoporosis (C537700)
| ..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
| ..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
| ..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
| ..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
| ..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
| ..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
| ..Osteoporosis, Postmenopausal (D015663)
| ..Prader-Willi habitus, osteopenia, and camptodactyly (C538276)
| ..Premature aging, Okamoto type (C535270)
| ..Singleton Merten syndrome (C537343)
| ..Winchester syndrome (C536709)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 550 |
| Name: | Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D000592|MESH:D004392|MESH:D008607|MESH:D009136|MESH:D010024 |
| TreeNumbers: | C05.116.099.343/C565960 |C05.116.198.579/C565960 |C05.651.534.500/C565960 |C10.597.606.643/C565960 |C10.668.491.175.500/C565960 |C16.320.240/C565960 |C16.320.565.100/C565960 |C16.320.577/C565960 |C18.452.648.100/C565960 |C19.297/C565960 |C23.888.592.604.646/C56596 |
| Synonyms: | |
| Slim Mappings: | Endocrine system disease|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C565960
MeSH: C565960
OMIM: 204730;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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