loading...| Preferred Name | hypophosphatasia | |
| Synonyms |
deficiency of alkaline phosphatase |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14213 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
deficiency of alkaline phosphatase |
|
| database_cross_reference |
UMLS_CUI:C0020630 UMLS_CUI:C0220743 MESH:C562440 SNOMEDCT_US_2023_03_01:30174008 SNOMEDCT_US_2023_03_01:70848009 ICD10CM:E83.39 MESH:D007014 GARD:6734 NCI:C26798 ORDO:436 |
|
| definition |
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 exact synonym |
deficiency of alkaline phosphatase |
|
| has material basis in | ||
| has_alternative_id |
DOID:14763 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14213 |
|
| in_subset | ||
| label |
hypophosphatasia |
|
| notation |
DOID:14213 |
|
| note |
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]. |
|
| preferred label |
hypophosphatasia |
|
| prefLabel |
hypophosphatasia |
|
| subClassOf |