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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | gray platelet syndrome | |
| Synonyms |
BDPLT4 platelet-type bleeding disorder 4 platelet alpha-granule deficiency GPS |
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| Definitions |
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111044 |
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| alternative label |
BDPLT4 platelet-type bleeding disorder 4 platelet alpha-granule deficiency GPS
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:51720005 UMLS_CUI:C0272302 ICD10CM:D69.1 MESH:D055652 OMIM:139090 GARD:2562 NCI:C84741 ORDO:721
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|
| definition |
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
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| has exact synonym |
BDPLT4 platelet-type bleeding disorder 4 platelet alpha-granule deficiency GPS
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0111044
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| in_subset | ||
| label |
gray platelet syndrome
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|
| notation |
DOID:0111044
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|
| note |
A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
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|
| preferred label |
gray platelet syndrome
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|
| prefLabel |
gray platelet syndrome
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| subClassOf |
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