ORPHA:98578
Rare disorder with ptosis
- 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 disorder with ptosis | |
| fr | Maladie rare avec ptosis | |
| de | Seltene Störung mit Ptosis | |
| es | Enfermedad rara con ptosis | |
| it | Ptosi | |
| nl | Zeldzame stoornis met ptose | |
| pt | Ptose | |
| pl | Rzadkie zaburzenie z ptozą | |
| cs | Ptózy | |
| uk | Рідкісне захворювання з птозом | |
| zh | 罕见眼睑下垂 | |
| tr | Pitoz ile seyreden nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MeSH | D001763 | E | validated | |
| UMLS | C5681651 | 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:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522528Rare genetic eyelid malposition disorder
rare genetic diseases
Children (37):
- ORPHA:2980Acrootoocular syndrome
- ORPHA:1352Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome
- ORPHA:293642Blepharophimosis-intellectual disability syndrome
- ORPHA:126Blepharophimosis-ptosis-epicanthus inversus syndrome
- ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:2057Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- ORPHA:127Borjeson-Forssman-Lehmann syndrome
- ORPHA:1323Camptodactyly-joint contractures-facial skeletal defects syndrome
- ORPHA:46627Char syndrome
- ORPHA:91413Congenital Horner syndrome
- ORPHA:45358Congenital fibrosis of extraocular muscles
- ORPHA:590Congenital myasthenic syndrome
- ORPHA:91411Congenital ptosis
- ORPHA:199Cornelia de Lange syndrome
- ORPHA:230Dopamine beta-hydroxylase deficiency
- ORPHA:235Dubowitz syndrome
- ORPHA:66629Goldberg-Shprintzen megacolon syndrome
- ORPHA:2308Jacobsen syndrome
- ORPHA:91412Marcus-Gunn syndrome
- ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:580Mucopolysaccharidosis type 2
- ORPHA:648Noonan syndrome
- ORPHA:1876Oculogastrointestinal muscular dystrophy
- ORPHA:270Oculopharyngeal muscular dystrophy
- ORPHA:98897Oculopharyngodistal myopathy
- ORPHA:606Proximal myotonic myopathy
- ORPHA:2999Ptosis-strabismus-ectopic pupils syndrome
- ORPHA:228396Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- ORPHA:2997Ptosis-vocal cord paralysis syndrome
- ORPHA:794Saethre-Chotzen syndrome
- ORPHA:818Smith-Lemli-Opitz syndrome
- ORPHA:273Steinert myotonic dystrophy
- ORPHA:861Treacher-Collins syndrome
- ORPHA:502430Weiss-Kruszka Syndrome
- ORPHA:596X-linked centronuclear myopathy
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/98578
- This record as JSON: /data/d/98578.json