Autosomal Recessive Robinow Syndrome 2
Disease ID: disease_node_17026
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| Dbxref | MIM:618529 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060254 |
| Data Source | DOID |
| Doid Label | autosomal recessive Robinow syndrome 2 |
| Doid Description | A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17026 |
| Doid Id | DOID_0060974 |
| Label | Autosomal Recessive Robinow Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)