ORPHA:728475
Inherited bone marrow failure disorder with immune defect
Synonyms: Inheirted BMF disorder with immune defect · Inherited BMFD with immune defect
- 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.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited bone marrow failure disorder with immune defect | Inheirted BMF disorder with immune defect · Inherited BMFD with immune defect |
| fr | Aplasie médullaire constitutionnelle avec déficit immunitaire | Aplasie médullaire héréditaire avec déficit immunitaire |
| de | Hereditäres Knochenmarkversagen mit Immundefekt | Hereditäres BMFS mit Immundefizienz · Hereditäres Knochenmarkversagen-Syndrom mit Immundefekt |
| es | Trastorno hereditario de fallo medular con defecto inmunitario | |
| it | Malattia ereditaria da insufficienza del midollo osseo con difetto immunitario | BMFD ereditaria con difetto immunitario · Malattia ereditaria da BMF con difetto immunitario |
| nl | Erfelijk beenmergfalen met immuundefect | Erfelijk BMF met immuundefect |
| pt | Inherited bone marrow failure disorder with immune defect | |
| pl | Inherited bone marrow failure disorder with immune defect | = en |
| cs | Inherited bone marrow failure disorder with immune defect | = en |
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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 (2):
- ORPHA:183770Rare genetic immune disease
rare genetic diseases - ORPHA:98004Rare immune disease
rare immunological diseases
Children (16):
- ORPHA:53Albers-Schönberg osteopetrosis
- ORPHA:2585Ataxia-pancytopenia syndrome
- ORPHA:314399Autosomal dominant aplasia and myelodysplasia
- ORPHA:667Autosomal recessive malignant osteopetrosis
- ORPHA:725898Bone marrow failure-diabetes mellitus syndrome
- ORPHA:313838Coats plus syndrome
- ORPHA:1775Dyskeratosis congenita
- ORPHA:84Fanconi anemia
- ORPHA:3322Hoyeraal-Hreidarsson syndrome
- ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasia
- ORPHA:210110Intermediate osteopetrosis
- ORPHA:494433MIRAGE syndrome
- ORPHA:178389Osteopetrosis-hypogammaglobulinemia syndrome
- ORPHA:401764Pancytopenia-developmental delay syndrome
- ORPHA:726036Red cell aplasia-microcephaly-seizure-developmental delay syndrome
- ORPHA:3088Revesz syndrome
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Genes
0 directOrphanet records no gene directly on this code.
5
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/728475
- This record as JSON: /data/d/728475.json