ORPHA:597749
KAT6B-related multiple congenital anomalies syndrome
Synonyms: KAT6B-related disorder
- Type
- Clinical group
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KAT6B-related multiple congenital anomalies syndrome | KAT6B-related disorder |
| fr | Syndrome d'anomalies congénitales multiples associé à KAT6B | Maladie associée à KAT6B |
| de | KAT6B-abhängiges multiple kongenitale Anomalien-Syndrom | KAT6B-Gen-assoziierte Störungen |
| es | Síndrome de anomalías congénitas múltiples asociado a KAT6B | Trastornos asociados a KAT6B |
| it | Sindrome da anomalie congenite multiple correlata a KAT6B | Malattie correlate a KAT6B |
| nl | KAT6B-gerelateerd syndroom van multipele congenitale anomalieën | KAT6B-gerelateerde aandoeningen |
| pt | Síndrome de anomalias congénitas múltiplas KAT6B-relacionada | Doenças KAT6B-relacionadas |
| pl | Zespół mnogich wad zwiazany z KAT6B | Zaburzenia związane z KAT6B |
| cs | Syndrom mnohočetných vrozených vad souvisejících s KAT6B | = en |
| uk | Синдром множинних вроджених аномалій, повязаних з KAT6B | Захворювання, повязане з KAT6B |
| zh | KAT6B-related multiple congenital anomalies syndrome | = en |
| tr | KAT6B-related multiple congenital anomalies syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680266 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93455Patellar dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/597749
- This record as JSON: /data/d/597749.json