Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Disease ID: disease_node_19995
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617641 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | CAKUTHED |
| Doid Label | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
| Doid Description | A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19995 |
| Doid Id | DOID_0112359 |
| Label | Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)