ORPHA:730721
Isolated partial colobomatous microphthalmia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated partial colobomatous microphthalmia | |
| fr | Microphtalmie colobomateuse isolée partielle | |
| de | Isolierte partielle kolobomatöse Mikrophthalmie | |
| es | Microftalmia colobomatosa parcial aislada | |
| it | Microftalmia colobomatosa parziale isolata | |
| nl | Geïsoleerde partiële colobomateuze microftalmie | |
| pt | Isolated partial colobomatous microphthalmia | |
| pl | Isolated partial colobomatous microphthalmia | |
| cs | Isolated partial colobomatous microphthalmia |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98938Isolated colobomatous microphthalmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 12503095[PMID] |
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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/730721
- This record as JSON: /data/d/730721.json