Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandFractures, Bone (D050723)
Parent Node:
expandHip Dislocation, Congenital (D006618)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandNervous System Diseases (D009422)
Parent Node:
expandOsteoporosis (D010024)
..Starting node
..expandNeurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)

       Child Nodes:



 Sister Nodes: 
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
..expandExudative vitreoretinopathy 1 (C536382)
..expandFemale Athlete Triad Syndrome (D053716)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHernandez Fragoso syndrome (C536062)
..expandJuvenile osteoporosis (C537700)
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandNephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..expandNephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..expandNEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
..expandNEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
..expandNeurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..expandOsteoporosis, Postmenopausal (D015663)
..expandPrader-Willi habitus, osteopenia, and camptodactyly (C538276)
..expandPremature aging, Okamoto type (C535270)
..expandSingleton Merten syndrome (C537343)
..expandWinchester syndrome (C536709)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0002827Hip dislocation
4 HP:0030043Hip subluxation
5 HP:0006887Intellectual disability, progressive
6 HP:0010864Intellectual disability, severe
7 HP:0000939Osteoporosis
8 HP:0001271Polyneuropathy
9 HP:0002757Recurrent fractures
10 HP:0003202Skeletal muscle atrophy
11 HP:0002445Tetraplegia
Disease Causing ClinVar Variants