ORPHA:1102
Anophthalmia-hypothalamo-pituitary insufficiency syndrome
inactive · moved to ORPHA:3157Septo-optic dysplasia spectrum
Synonyms: 14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome · Monosomy 14q22
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anophthalmia-hypothalamo-pituitary insufficiency syndrome | 14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome · Monosomy 14q22 |
| fr | Syndrome d'anophtalmie-insuffisance hypothalamo-hypophysaire | Microdélétion 14q22 · Monosomie 14q22 · Syndrome d'Al Frayh-Facharzt-Haque |
| de | Anophthalmie mit Hypothalamus-Hypophysen-Insuffizienz | Al Frayh-Facharzt-Haque-Syndrom · Mikrodeletionssyndrom 14q22 · Monosomie 14q22 |
| es | Síndrome de anoftalmia-insuficiencia hipotálamo-pituitaria | Monosomía 14q22 · Síndrome de Al Frayh-Facharzt-Haque · Síndrome de Al frayh facharzt haque · Síndrome de microdeleción 14q22 |
| it | Anoftalmia - insufficienza ipotalamo-ipofisaria | Monosomia 14q22 · Sindrome da microdelezione 14q22 · Sindrome di Al Frayh-Facharzt-Haque |
| nl | Anoftalmie - hypothalamo-hypofysaire insufficiëntie-syndroom | Syndroom van Al Frayh-Facharzt-Haque · 14q22-microdeletiesyndroom · Monosomie 14q22 |
| pt | Síndrome de anoftalmia-insuficiência hipotálamo-hipofisária | Monossomia 14q22 · Síndrome Al Frayh-Facharzt-Haque · Síndrome de microdeleção 14q22 |
| pl | Bezocze - niedoczynność podwzgórzowo-przysadkowa | Monosomia 14q22 · Zespół Al Frayh, Facharzt i Haque · Zespół mikrodelecji 14q22 |
| cs | Syndrom zahrnující anoftalmii a hypotalamo-hypofyzární insuficienci | Monozomie 14q22 · Mikrodeleční syndrom 14q22 · Al Frayhův-Facharztův-Haqueho syndrom · Al Frayh-Facharzt-Haqueho syndrom |
| uk | Синдром анофтальмії-гіпоталамо-гіпофізарної недостатності | Синдром мікроделеції 14q22 · Синдром Аль-Фрайха-Фахарца-Хака · Моносомія 14q22 |
| zh | 无眼畸形-下丘脑-垂体功能减退 | Al Frayh-Facharzt-Haque综合征 |
| tr | Anoftalmi-hipotalamo-hipofiz yetmezlik sendromu | Monozomi 14q22 · 14q22 mikrodelesyon sendromu · Al Frayh-Facharzt-Haque sendromu |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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/1102
- This record as JSON: /data/d/1102.json