ORPHA:139009
Developmental anomaly of metabolic origin
- 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 | Developmental anomaly of metabolic origin | |
| fr | Anomalie du développement d'origine métabolique | |
| de | Entwicklungsanomalie metabolischen Ursprungs | |
| es | Anomalía del desarrollo de origen metabólico | |
| it | Anomalia dello sviluppo di origine metabolica | |
| nl | Ontwikkelingsanomalie van metabole oorsprong | |
| pt | Síndrome dismórfico de origem metabólica | |
| pl | Zaburzenie rozwojowe pochodzenia metabolicznego | |
| cs | Vývojové anomálie metabolického původu | |
| uk | Аномалія розвитку метаболічного походження | |
| zh | 代谢性发育异常 | |
| tr | Metabolik kökenli gelişimsel anormallik |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015327 | E | validated | |
| MONDO | 15327 | E | validated | |
| UMLS | C5680623 | E | validated | |
| GARD | 19900 | 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:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis - ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
Children (15):
- ORPHA:369942CADDS
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
- ORPHA:324Fabry disease
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:436Hypophosphatasia
- ORPHA:772Infantile Refsum disease
- ORPHA:79212Mucolipidosis
- ORPHA:79213Mucopolysaccharidosis
- ORPHA:585Multiple sulfatase deficiency
- ORPHA:79215Oligosaccharidosis
- ORPHA:97593Pseudohypoparathyroidism
- ORPHA:87876Sialidosis type 2
- ORPHA:79195Sterol biosynthesis disorder
- ORPHA:912Zellweger syndrome
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/139009
- This record as JSON: /data/d/139009.json