ORPHA:202948
Syndromic microphthalmia-anophthalmia-coloboma
Synonyms: Syndromic microphthalmia
- 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 | Syndromic microphthalmia-anophthalmia-coloboma | Syndromic microphthalmia |
| fr | Microphtalmie-anophtalmie-colobome syndromique | |
| de | Syndromale Mikrophthalmie mit Anophthalmie und Kolobom | Mikrophthalmie, syndromale |
| es | Microftalmia-anoftalmia-coloboma sindrómicos | Microftalmia sindrómica |
| it | Microftalmia sindromica | |
| nl | Syndromale microftalmie - anoftalmie - coloboom | Syndromale microftalmie |
| pt | Síndrome de microftalmia sindromática-anoftalmia-coloboma | Microftalmia sindromática |
| pl | Małoocze syndromiczne | = en |
| cs | Syndromická mikroftalmie | = en |
| uk | Синдромальна мікрофтальмія-анофтальмія-колобома | Синдромальна мікрофтальмія |
| zh | 综合征性小眼畸形-无眼畸形-眼缺损 | 综合征性小眼畸形 |
| tr | Sendromik mikroftalmi-anoftalmi-kolobom | Sendromik mikroftalmi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16073 | E | validated | |
| UMLS | C5679782 | 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:98555Microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
Children (25):
- ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome
- ORPHA:1466COFS syndrome
- ORPHA:603494Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
- ORPHA:363741Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- ORPHA:424099Colobomatous microphthalmia-rhizomelic dysplasia syndrome
- ORPHA:1806Ectodermal dysplasia-blindness syndrome
- ORPHA:3434MMEP syndrome
- ORPHA:2432Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:2470Matthew-Wood syndrome
- ORPHA:2510Micro syndrome
- ORPHA:139471Microphthalmia with brain and digit anomalies
- ORPHA:1106Microphthalmia with limb anomalies
- ORPHA:2556Microphthalmia with linear skin defects syndrome
- ORPHA:568Microphthalmia, Lenz type
- ORPHA:85275Microphthalmia-ankyloblepharon-intellectual disability syndrome
- ORPHA:77299Microphthalmia-brain atrophy syndrome
- ORPHA:2547Microphthalmia-microtia-fetal akinesia syndrome
- ORPHA:689829Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
- ORPHA:251279Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
- ORPHA:157962Oculoauricular syndrome, Schorderet type
- ORPHA:1647Oculocerebrocutaneous syndrome
- ORPHA:2712Oculofaciocardiodental syndrome
- ORPHA:611201Oculogastrointestinal-neurodevelopmental syndrome
- ORPHA:178364Syndromic microphthalmia type 5
- ORPHA:431140X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature 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/202948
- This record as JSON: /data/d/202948.json