hereditary pyropoikilocytosis
autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency
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hereditary pyropoikilocytosis
Summary
hereditary pyropoikilocytosis is a rare disease[1].
Key Facts
- hereditary pyropoikilocytosis's instance of is recorded as rare disease[2].
- hereditary pyropoikilocytosis's instance of is recorded as class of disease[3].
- hereditary pyropoikilocytosis's subclass of is recorded as hemolytic anemia[4].
- hereditary pyropoikilocytosis's subclass of is recorded as poikilocytosis[5].
- hereditary pyropoikilocytosis's subclass of is recorded as genetic disease[6].
- hereditary pyropoikilocytosis's MeSH descriptor ID is recorded as C563004[7].
- hereditary pyropoikilocytosis's OMIM ID is recorded as 266140[8].
- hereditary pyropoikilocytosis's KEGG ID is recorded as H01125[9].
- hereditary pyropoikilocytosis's Orphanet ID is recorded as 98867[10].
- hereditary pyropoikilocytosis's ICD-9-CM is recorded as 790.09[11].
- hereditary pyropoikilocytosis's NCI Thesaurus ID is recorded as C98943[12].
- hereditary pyropoikilocytosis's health specialty is recorded as hematology[13].
- hereditary pyropoikilocytosis's genetic association is recorded as SPTA1[14].
- hereditary pyropoikilocytosis's exact match is recorded as http://purl.obolibrary.org/obo/HP_0004839[15].
- hereditary pyropoikilocytosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98867[16].
- hereditary pyropoikilocytosis's UMLS CUI is recorded as C0520739[17].
- hereditary pyropoikilocytosis's Human Phenotype Ontology ID is recorded as HP:0004839[18].
- hereditary pyropoikilocytosis's GARD rare disease ID is recorded as 4619[19].
- hereditary pyropoikilocytosis's Mondo ID is recorded as MONDO_0009948[20].
- hereditary pyropoikilocytosis's Microsoft Academic ID is recorded as 2778988730[21].
- hereditary pyropoikilocytosis's UniProt disease ID is recorded as DI-01737[22].