loading...| Preferred Name |
Schimke immunoosseous dysplasia |
| Synonyms |
Immunoosseous Dysplasia, Schimke Type |
| ID |
http://purl.bioontology.org/ontology/MESH/C536629 |
| altLabel |
Immunoosseous Dysplasia, Schimke Type Immunoosseous dysplasia Schimke type Schimke Immuno-Osseous Dysplasia |
| cui |
C0877024 |
| HM |
D000081207 D011655 D010009 D001161 D009404 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D001161 http://purl.bioontology.org/ontology/MESH/D010009 http://purl.bioontology.org/ontology/MESH/D009404 |
| MDA |
20100825 |
| MeSH Frequency |
52 |
| MMR |
20190617 |
| notation |
C536629 |
| PI |
IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019) |
| prefLabel |
Schimke immunoosseous dysplasia |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive disorder characterized by growth and skeletal abnormalities, hyperpigmented skin areas, kidney disease, and immune deficiency; arteriosclerosis may also occur in some cases. Mutations in the SMARCAL1 gene have been identified. OMIM: 242900 |
| TERMUI |
T802332 T739930 T739932 T842419 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 |