ORPHA:93448
Lysosomal storage disease with skeletal involvement
Synonyms: Dysostosis multiplex
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lysosomal storage disease with skeletal involvement | Dysostosis multiplex |
| fr | Maladie lysosomale avec atteinte osseuse | Dysostose multiple |
| de | Lysosomale Speicherkrankheit mit Skelettbeteiligung | |
| es | Enfermedad por almacenamiento lisosomal con afectación esquelética | |
| it | Malattia da depositi lisosomiali con coinvolgimento scheletrico | |
| nl | Lysosomale stapelingsziekte met skeletale betrokkenheid | = en |
| pt | Doença de armazenamento lisossomal com envolvimento esquelético | |
| pl | Choroba spichrzeniowa obejmująca szkielet kostny | = en |
| cs | Lysozomální střádavé onemocnění z postižením skeletu | = en |
| uk | Лізосомна хвороба накопичення з ураженням скелета | Множинні дизостози |
| zh | 溶酶体贮积病伴骨骼受累 | 多发性成骨不全 |
| tr | İskelet tutulumu ile seyreden lizozomal depo hastalığı | Disostoz multipleks |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0800088 | E | validated | |
| UMLS | C5848292 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93419Rare bone disease
rare bone diseases - ORPHA:183524Rare genetic bone disease
rare genetic diseases
Children (19):
- ORPHA:61Alpha-mannosidosis
- ORPHA:93Aspartylglucosaminuria
- ORPHA:118Beta-mannosidosis
- ORPHA:309324Free sialic acid storage disease, infantile form
- ORPHA:349Fucosidosis
- ORPHA:354GM1 gangliosidosis
- ORPHA:351Galactosialidosis
- ORPHA:67041Hyaluronidase deficiency
- ORPHA:576Mucolipidosis type II
- ORPHA:577Mucolipidosis type III
- ORPHA:579Mucopolysaccharidosis type 1
- ORPHA:662216Mucopolysaccharidosis type 10
- ORPHA:580Mucopolysaccharidosis type 2
- ORPHA:581Mucopolysaccharidosis type 3
- ORPHA:582Mucopolysaccharidosis type 4
- ORPHA:583Mucopolysaccharidosis type 6
- ORPHA:584Mucopolysaccharidosis type 7
- ORPHA:585Multiple sulfatase deficiency
- ORPHA:87876Sialidosis type 2
Codes that Orphanet moved or referred to this one:
- ORPHA:93471OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93448
- This record as JSON: /data/d/93448.json