ORPHA:98733
Noonan syndrome and Noonan-related syndrome
- 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 | Noonan syndrome and Noonan-related syndrome | |
| fr | Syndrome de Noonan et syndrome associé | |
| de | Noonan-Syndrom und Noonan-ähnliches Syndrom | |
| es | Síndrome de Noonan y síndromes tipo Noonan | |
| it | Sindrome di Noonan e Noonan-simile | |
| nl | Syndroom van Noonan en Noonan-gerelateerd syndroom | |
| pt | Síndrome Noonan e síndrome Noonan-relacionada | |
| pl | Zespół Noonan i zespoły pokrewne | |
| cs | Syndrom Noonanové a příbuzné syndromy | |
| uk | Синдром Нунана та Нунан-повязаний синдром | |
| zh | 努南综合征和努南相关综合征 | |
| tr | Noonan sendromu ve Noonan ilişkili sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020297 | E | validated | |
| UMLS | C5681679 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:536391RASopathy
rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
Children (7):
- ORPHA:1340Cardiofaciocutaneous syndrome
- ORPHA:3071Costello syndrome
- ORPHA:638Neurofibromatosis-Noonan syndrome
- ORPHA:648Noonan syndrome
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:363972Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
- ORPHA:2701Noonan syndrome-like disorder with loose anagen hair
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/98733
- This record as JSON: /data/d/98733.json