Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Disease ID: disease_node_13713
Connections displayed (default: 10).
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| Dbxref | MIM:618571 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Disease Has Feature | DOID_83 |
| Doid Label | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| Doid Description | A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. |
| Has Phenotype | HP_0012759 |
| Has Symptom | SYMP_0000479 |
| Disease Node Id | disease_node_13713 |
| Doid Id | DOID_0070346 |
| Label | Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
- Outgoing r'ship
HAS_SYMPTOMto/from Abnormality Of Gait(ID:disease_node_21017) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)