| Disease Browser
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Parent Node:
 Anemia, Hemolytic, Congenital (D000745) | ..Starting node
.. Elliptocytosis, Hereditary (D004612)
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Child Nodes:
| | ........Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570) | | ........Elliptocytosis 1 (C567520) | | ........Elliptocytosis 2 (C565058) | | ........Elliptocytosis 3 (C566678) | | ........Elliptocytosis 4 (C566231) | | ........Elliptocytosis, Atypical (C565598) | | ........Glyoxalase II Deficiency (C564215) | | ........Ovalocytosis, Hereditary Hemolytic (C563480) | | ........Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis (C563479) | | ........Ovalocytosis, Malaysian-Melanesian-Filipino Type (C566230) | | ........Pyropoikilocytosis, Hereditary (C563004) |
Sister Nodes: | ..Anemia, Dyserythropoietic, Congenital (D000742)  5
| ..Anemia, Hemolytic, Congenital Nonspherocytic (D000746) 5
| ..Anemia, hereditary spherocytic hemolytic (C536356)
| ..Anemia, Sickle Cell (D000755) 3
| ..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
| ..Elliptocytosis, Hereditary (D004612) 11
| ..Glucosephosphate Dehydrogenase Deficiency (D005955) 3
| ..Heinz Body Anemias (C563030)
| ..Hemoglobin C Disease (D006445) 1
| ..Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
| ..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
| ..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
| ..Red cell phospholipid defect with hemolysis (C535298)
| ..Rh-Null Disease, Amorph Type (C566210)
| ..Spherocytosis, Hereditary (D013103) 5
| ..Stomatocytosis I (C566111)
| ..Stomatocytosis II (C566110)
| ..Thalassemia (D013789) 16
| ..Transient erythroblastopenia of childhood (C536980)
| ..Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (C564859)
| ..Xerocytosis, hereditary (C536764)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 3690 |
| Name: | Elliptocytosis, Hereditary |
| Definition: | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. |
| Alternative IDs: | |
| ParentIDs: | MESH:D000745 |
| TreeNumbers: | C15.378.071.141.150.365 |C16.320.070.365 |
| Synonyms: | Elliptocytoses, Hereditary |Hereditary Elliptocytoses |Hereditary Elliptocytosis |Hereditary Ovalocytoses |Hereditary Ovalocytosis |Ovalocytoses, Hereditary |Ovalocytosis, Hereditary |
| Slim Mappings: | Blood disease|Genetic disease (inborn) |
| Reference: |
MedGen: D004612
MeSH: D004612
OMIM:
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
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