Microcephaly, Short Stature, And Limb Abnormalities
Disease ID: disease_node_15650
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| Dbxref | MIM:617604, ORDO:572761 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DONSON-related microcephaly-short stature-limb abnormalities spectrum |
| Doid Label | microcephaly, short stature, and limb abnormalities |
| Doid Description | An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. |
| Existence Starts During | HP_0003623, HP_0030674 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15650 |
| Doid Id | DOID_0081431 |
| Label | Microcephaly, Short Stature, And Limb Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)