ORPHA:180772
Rare disease with autism
- 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 | Rare disease with autism | |
| fr | Maladie rare avec autisme | |
| de | Seltene Krankheit in Kombination mit Autismus | |
| es | Enfermedad rara con autismo | |
| it | Malattia rara associata ad autismo | |
| nl | Zeldzame ziekte met autisme | |
| pt | Doença rara com autismo | |
| pl | Rzadka choroba z autyzmem | |
| cs | Vzácné nemoci s autismem | |
| uk | Рідкісне захворювання з аутизмом | |
| zh | 伴孤独症谱系障碍的罕见病 | |
| tr | Otizm ile seyreden nadir hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15878 | E | validated | |
| UMLS | C5680471 | E | validated | |
| GARD | 10248 | 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:168778Rare pervasive developmental disorder
rare genetic diseases; rare neurological diseases
Children (15):
- ORPHA:2939481p21.3 microdeletion syndrome
- ORPHA:46Adenylosuccinate lyase deficiency
- ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:329195Developmental delay with autism spectrum disorder and gait instability
- ORPHA:99704Early-onset obesity-hyperphagia-severe developmental delay syndrome
- ORPHA:908Fragile X syndrome
- ORPHA:589547GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ORPHA:3306Inverted duplicated chromosome 15 syndrome
- ORPHA:210548Macrocephaly-intellectual disability-autism syndrome
- ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:819Smith-Magenis syndrome
- ORPHA:65283Timothy syndrome
- ORPHA:805Tuberous sclerosis complex
- ORPHA:314389Xq12-q13.3 duplication 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/180772
- This record as JSON: /data/d/180772.json