Neu-Laxova Syndrome 1
Disease ID: disease_node_20546
Connections displayed (default: 10).
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| Dbxref | MIM:256520 |
|---|---|
| Subclassof | DOID_0050721 |
| Data Source | DOID |
| Doid Label | Neu-Laxova syndrome 1 |
| Doid Description | A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. |
| Has Symptom | SYMP_0000369 |
| Disease Node Id | disease_node_20546 |
| Doid Id | DOID_0080076 |
| Label | Neu-Laxova Syndrome 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Blepharoptosis(ID:disease_node_1612) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Serine Deficiency(ID:disease_node_20545) (Disease)