ORPHA:156604
Genetic parenchymatous liver disease
- 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 | Genetic parenchymatous liver disease | |
| fr | Maladie génétique du parenchyme hépatique | |
| de | Leberkrankheit, parenchymatische, genetisch bedingte | |
| es | Enfermedad hepática parenquimatosa genética | |
| it | Malattia epatica parenchimatosa genetica | |
| nl | Genetische parenchymateuze leverziekte | |
| pt | Doença parenquimatosa do fígado, genética | |
| pl | Genetyczna choroba miąższu wątroby | |
| cs | Geneticky podmíněné parenchymatózní onemocnění jater | |
| uk | Генетично обумовлене паренхіматозне захворювання печінки | |
| zh | 遗传性肝实质病 | |
| tr | Genetik parankimatöz karaciğer hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15508 | E | validated | |
| UMLS | C5680644 | 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 (1):
- ORPHA:156601Rare genetic hepatic disease
rare genetic diseases
Children (16):
- ORPHA:217371Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:370088Acute infantile liver failure-multisystemic involvement syndrome
- ORPHA:731Autosomal recessive polycystic kidney disease
- ORPHA:397922Ferro-cerebro-cutaneous syndrome
- ORPHA:464724Fever-associated acute infantile liver failure syndrome
- ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
- ORPHA:391366Growth retardation-mild developmental delay-chronic hepatitis syndrome
- ORPHA:2031Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:726824Hepatorenocardiac degenerative fibrosis
- ORPHA:1454Joubert syndrome with hepatic defect
- ORPHA:3032NPHP3-related Meckel-like syndrome
- ORPHA:294415Renal-hepatic-pancreatic dysplasia
- ORPHA:440427Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- ORPHA:300293Transient infantile hypertriglyceridemia and hepatosteatosis
- ORPHA:84064Trichohepatoenteric 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/156604
- This record as JSON: /data/d/156604.json