Disease Browser
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Parent Node: Fractures, Bone (D050723) | Parent Node: Hip Dislocation, Congenital (D006618) | Parent Node: Intellectual Disability (D008607) | Parent Node: Nervous System Diseases (D009422) | Parent Node: Osteoporosis (D010024) | ..Starting node ..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
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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: | 7972 |
Name: | Neurologic Disease, Infantile Multisystem, with Osseous Fragility |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D006618|MESH:D008607|MESH:D009422|MESH:D010024|MESH:D050723 |
TreeNumbers: | C05.116.198.579/C564954 |C05.660.449/C564954 |C10.597.606.643/C564954 |C10/C564954 |C16.131.621.449/C564954 |C23.888.592.604.646/C564954 |C26.404/C564954 |F03.550.600/C564954 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Wounds and injuries |
Reference: |
MedGen: C564954
MeSH: C564954
OMIM: 256720;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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