Elliptocytosis

Symptom Information:

Symptom ID: HPO:0004445
Synonyms:
Hereditary elliptocytosis [HPO:0004445]
Elliptocytosis [OMIM:Elliptocytosis]
Elliptocytosis (in some patients, segregated independently) [OMIM:Elliptocytosis (in some patients, segregated independently)]
Elliptocytosis hereditary [MedDRA:10014490]
Elliptocytosis [MedDRA:10014489]
Quality:
Cross references:
OMIM: "Elliptocytosis" [OMIM:Elliptocytosis]
OMIM: "Elliptocytosis (in some patients, segregated independently)" [OMIM:Elliptocytosis (in some patients, segregated independently)]
UMLS:C0427480 "Elliptocytosis" [HPO:0004445]
Is a (Direct Parents):
MedDRA Red cell membrane and enzyme abnormalities
HPO         Poikilocytosis
MedDRA Red blood cell abnormal findings NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of blood and blood-forming tissues(HPO:0001871)
          Abnormality of erythrocytes(HPO:0001877)
             Poikilocytosis(HPO:0004447)
                Elliptocytosis(HPO:0004445)
MedDRA:
Blood and lymphatic system disorders(MedDRA:10005329)
    Haemolyses and related conditions(MedDRA:10018911)
       Red cell membrane and enzyme abnormalities(MedDRA:10038185)
          Elliptocytosis(HPO:0004445)
    Red blood cell disorders(MedDRA:10038158)
       Red blood cell abnormal findings NEC(MedDRA:10038144)
          Elliptocytosis(HPO:0004445)
Database Frequency: 15 / 7739
Resource:

All diseases associated with this symptom:

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
BLOOD GROUP, GERBICH SYSTEM (OMIM:616089)
Common hereditary elliptocytosis (Orphanet:98864)
ELLIPTOCYTOSIS 1 (OMIM:611804)
ELLIPTOCYTOSIS 2 (OMIM:130600)
HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES (OMIM:141700)
HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY (OMIM:614033)
Hereditary pyropoikilocytosis (Orphanet:98867)
OVALOCYTOSIS, HEREDITARY HEMOLYTIC (OMIM:166900)
OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS (OMIM:166910)
PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
RED CELL PERMEABILITY DEFECT (OMIM:179650)
SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 (OMIM:109270)
SPECTRIN, BETA, ERYTHROCYTIC (OMIM:182870)
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia (Orphanet:363727)