loading...| Preferred Name |
Fechtner Syndrome |
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| Synonyms |
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| Definitions |
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C131642 |
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| ALT_DEFINITION |
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. |
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| code |
C131642 |
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| Contributing_Source |
NICHD |
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| definition |
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. |
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| in_subset | ||
| label |
Fechtner Syndrome |
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| Preferred_Name |
Fechtner Syndrome |
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| prefixIRI |
NCIT:C131642 |
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| prefLabel |
Fechtner Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0403445 |
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| subClassOf |