Schimke immunoosseous dysplasia

Preferred Label : Schimke immunoosseous dysplasia;

Symbol : SIOD;

CISMeF acronym : SIOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunoosseous dysplasia, schimke type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like gene (SMARCAL1, 606622.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #242900;

Details

Origin ID

242900;

UMLS CUI

C0877024;

Currated CISMeF NLP mapping
- Schimke Immunoosseous Dysplasia [NCIt concept]
- Schimke immuno bone dysplasia [Disease (Nov.)]
- Schimke immuno-osseous dysplasia [DO Concept]
- Schimke immuno-osseous dysplasia [ICD-11 More detail]
- Schimke immuno-osseous dysplasia [ORDO Disease]
- Schimke immuno-osseous dysplasia (disorder) [SNOMED CT concept]
- Schimke immunoosseous dysplasia [MedDRA Preferred Term]
- Schimke immunoosseous dysplasia [MeSH concept]
- schimke immunoosseous dysplasia [MeSH Supplementary Concept]
DO Cross reference
- Schimke immuno-osseous dysplasia [DO Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like protein 1 [OMIM gene]
HPO term(s)
- Abnormal T cell morphology [HPO term]
- Abnormal immunoglobulin level [HPO term]
- Anemia [HPO term]
- Arteriosclerosis [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cerebral ischemia [HPO term]
- Coarse hair [HPO term]
- Corneal opacity [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Fine hair [HPO term]
- Flattened nasal bridge [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- High pitched voice [HPO term]
- Hypermelanotic macule [HPO term]
- Hypertension [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Intrauterine growth retardation [HPO term]
- Lateral displacement of the femoral head [HPO term]
- Lumbar hyperlordosis [HPO term]
- Lymphopenia [HPO term]
- Microdontia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Nephrotic syndrome [HPO term]
- Neutropenia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Osteopenia [HPO term]
- Ovoid vertebral bodies [HPO term]
- Platyspondyly [HPO term]
- Proteinuria [HPO term]
- Protuberant abdomen [HPO term]
- Recurrent infections [HPO term]
- Renal insufficiency [HPO term]
- Shallow acetabular fossae [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Thoracic kyphosis [HPO term]
- Thrombocytopenia [HPO term]
- Transient ischemic attack [HPO term]
- Waddling gait [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Schimke immuno-osseous dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Schimke Immunoosseous Dysplasia [NCIt concept]
- Schimke immuno bone dysplasia [Disease (Nov.)]
- Schimke immuno-osseous dysplasia [ORDO Disease]
- Schimke immuno-osseous dysplasia [DO Concept]
- Schimke immuno-osseous dysplasia [ICD-11 More detail]
- Schimke immuno-osseous dysplasia (disorder) [SNOMED CT concept]
- Schimke immunoosseous dysplasia [MedDRA Preferred Term]
- Schimke immunoosseous dysplasia [MeSH concept]
- schimke immunoosseous dysplasia [MeSH Supplementary Concept]

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