Hypomyelinating Leukodystrophy 10
Disease ID: disease_node_19947
Connections displayed (default: 10).
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| Dbxref | MIM:616420 |
|---|---|
| Subclassof | DOID_0060786, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HLD10 |
| Doid Label | hypomyelinating leukodystrophy 10 |
| Doid Description | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19947 |
| Doid Id | DOID_0060788 |
| Label | Hypomyelinating Leukodystrophy 10 |
- Outgoing r'ship
SUBCLASS_OFto/from Hypomyelinating Leukodystrophy(ID:disease_node_19923) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)