Neonatal Lethal Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome
Disease ID: disease_node_20267
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| Dbxref | MIM:618810, ORDO:615983 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PHRINL syndrome |
| Doid Label | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome |
| Doid Description | A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. |
| Existence Starts During | HP_0003623 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20267 |
| Doid Id | DOID_0081396 |
| Label | Neonatal Lethal Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)