Mulchandani-Bhoj-Conlin Syndrome
Disease ID: disease_node_20245
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| Dbxref | MIM:617352, ORDO:96186, SNOMEDCT_US_2023_03_01:715735007, UMLS_CUI:C4275029 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Synonyms | MBCS, UPD(20)mat, maternal UPD(20), maternal uniparental disomy of chromosome 20 |
| Doid Label | Mulchandani-Bhoj-Conlin syndrome |
| Doid Description | A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. |
| Disease Node Id | disease_node_20245 |
| Doid Id | DOID_0111714 |
| Label | Mulchandani-Bhoj-Conlin Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)