Hypophosphatasia
Disease ID: disease_node_4200
Connections displayed (default: 10).
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| Dbxref | GARD:6734, ICD10CM:E83.39, MESH:C562440, MESH:D007014, NCI:C26798, ORDO:436, SNOMEDCT_US_2023_03_01:30174008, SNOMEDCT_US_2023_03_01:70848009, UMLS_CUI:C0020630, UMLS_CUI:C0220743 |
|---|---|
| Subclassof | DOID_225, DOID_0050739 |
| Data Source | DOID, MESH |
| Synonyms | deficiency of alkaline phosphatase |
| Mesh Id | D007014 |
| Mesh Label | Hypophosphatasia |
| Mesh Subclassof | D008664 |
| Doid Label | hypophosphatasia |
| Doid Description | A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000934 |
| Disease Node Id | disease_node_4200 |
| Doid Id | DOID_14213 |
| Label | Hypophosphatasia |
| Doid Alternate Ids | DOID_14763 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Genetic Disease(ID:disease_node_15586) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Infantile Hypophosphatasia(ID:disease_node_15606) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Childhood Hypophosphatasia(ID:disease_node_15605) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Adult Hypophosphatasia(ID:disease_node_15607) (Disease)