ORPHA:1838
Metaphyseal dysplasia without hypotrichosis
inactive · moved to ORPHA:175Cartilage-hair hypoplasia
Synonyms: Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cartilage-hair hypoplasia
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal dysplasia without hypotrichosis | Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome |
| fr | Dysplasie métaphysaire sans hypotrichose | Hypoplasie type cartilage-cheveux sans hypotrichose |
| de | Dysplasie, metaphysäre, ohne Hypotrichose | Cartilago-Haarhypoplasie-ähnliches Syndrom · Knorpel-Haar-Hypoplasie ähnliche Skelettdysplasie ohne Hypotrichose |
| es | Displasia metafisaria sin hipotricosis | |
| it | Displasia metafisaria senza ipotricosi | Ipoplasia cartilagine-capelli-simile senza ipotricosi |
| nl | Metafysaire dysplasie zonder hypotrichose | Kraakbeen-haar hypoplasie-achtige skeletdysplasie zonder hypotrichose-syndroom |
| pt | Displasia metafisária sem hipotricose | Displasia óssea-hipoplasia cartilagem-cabelo-like sem hipotricose · Hipoplasia cartilagem-cabelo-like sem hipotricose |
| pl | Dysplazja przynasadowa bez hipotrichozy | Hipoplazja chrząstek i włosów podobna do dysplazji szkieletowej bez hipotrichozy |
| cs | Metafyzární dysplázie bez hypotrichózy | Syndrom zahrnující hypoplastické chrupavky a vlasy a skeletální dysplázii bez hypotrichózy |
| uk | Метафізарна дисплазія без гіпотрихозу | Хрящово-волосяна гіпоплазія, схожа на скелетну дисплазію, без синдрому гіпотрихозу |
| zh | 干骺端发育不良不伴毛发稀少 | 软骨-毛发发育不全样骨骼发育不全不伴少毛综合征 |
| tr | Hipotrikoz olmayan metafiz displazisi | Hipotrikoz sendromu olmayan kıkırdak-kıl hipoplazisine benzer iskelet displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250460 | E | validated | |
| UMLS | C1834821 | E | validated | |
| GARD | 10622 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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/1838
- This record as JSON: /data/d/1838.json