Anemia

Symptom Information:

Symptom ID: HPO:0001903
Synonyms:
Anaemia [HPO:0001903]
Decreased hemoglobin [HPO:0001903]
Anemia (disorder) [Orphanet:48120]
Anemic [Orphanet:48120]
Anemia [Orphanet:48120]
Anemia [OMIM:Anemia]
Decreased hemoglobin [OMIM:Decreased hemoglobin]
Anaemia [Orphanet:48120]
Anaemia [MedDRA:10002034]
Anaemia aggravated [MedDRA:10002034]
Anaemia NOS [MedDRA:10002034]
Anaemia NOS aggravated [MedDRA:10002034]
Anaemia, unspecified [MedDRA:10002034]
Anaemias, other and unspecified [MedDRA:10002034]
Anaemic [MedDRA:10002034]
Anemia [MedDRA:10002034]
Anemia, unspecified [MedDRA:10002034]
Other and unspecified anaemias [MedDRA:10002034]
Other and unspecified anemias [MedDRA:10002034]
Other specified anaemias [MedDRA:10002034]
Other specified anemias [MedDRA:10002034]
Secondary anaemia [MedDRA:10002034]
Unspecified anemia [MedDRA:10002034]
Anemia aggravated [MedDRA:10002034]
Secondary anemia [MedDRA:10002034]
Unspecified anaemia [MedDRA:10002034]
Anemic [MedDRA:10002034]
Anaemia post chemotherapy [MedDRA:10002034]
Anemia post chemotherapy [MedDRA:10002034]
Acute anemia [MedDRA:10002034]
Acute anaemia [MedDRA:10002034]
Chronic anaemia [MedDRA:10002034]
Chronic anemia [MedDRA:10002034]
Dimorphic anemia [MedDRA:10002034]
Dimorphic anaemia [MedDRA:10002034]
Transfusion dependent anemia [MedDRA:10002034]
Transfusion dependent anaemia [MedDRA:10002034]
Anemia (associated with mutation in the COX10 gene) [OMIM:Anemia (associated with mutation in the COX10 gene)]
Anemia (in some patients) [OMIM:Anemia (in some patients)]
Anemia (in some) [OMIM:Anemia (in some)]
Anemia (less common) [OMIM:Anemia (less common)]
Anemia (not responsive to pyridoxine supplementation) [OMIM:Anemia (not responsive to pyridoxine supplementation)]
Anemia (rare) [OMIM:Anemia (rare)]
Anemia (with bone marrow involvement) [OMIM:Anemia (with bone marrow involvement)]
Chronic anemia (in 1 patient) [OMIM:Chronic anemia (in 1 patient)]
Quality:
Cross references:
Orphanet:48120 "Anaemia" [Orphanet:48120]
OMIM: "Anemia" [OMIM:Anemia]
OMIM: "Decreased hemoglobin" [OMIM:Decreased hemoglobin]
OMIM: "Anemia (associated with mutation in the COX10 gene)" [OMIM:Anemia (associated with mutation in the COX10 gene)]
OMIM: "Anemia (in some patients)" [OMIM:Anemia (in some patients)]
OMIM: "Anemia (in some)" [OMIM:Anemia (in some)]
OMIM: "Anemia (less common)" [OMIM:Anemia (less common)]
OMIM: "Anemia (not responsive to pyridoxine supplementation)" [OMIM:Anemia (not responsive to pyridoxine supplementation)]
OMIM: "Anemia (rare)" [OMIM:Anemia (rare)]
OMIM: "Anemia (with bone marrow involvement)" [OMIM:Anemia (with bone marrow involvement)]
OMIM: "Chronic anemia (in 1 patient)" [OMIM:Chronic anemia (in 1 patient)]
UMLS:C1000483 "Anemia" [HPO:0001903]
UMLS:C0857322 "Anemic" [Orphanet:48120]
UMLS:C0002871 "Anemia" [Orphanet:48120]
Is a (Direct Parents):
MedDRA Anaemias NEC
HPO         Abnormality of erythrocytes
Orphanet Abnormality of erythrocytes
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)
             Anemia(HPO:0001903)
MedDRA:
Blood and lymphatic system disorders(MedDRA:10005329)
    Anaemias nonhaemolytic and marrow depression(MedDRA:10002086)
       Anaemias NEC(MedDRA:10002067)
          Anemia(HPO:0001903)
Database Frequency: 289 / 7739
Resource:

All diseases associated with this symptom:

ARTERIOSCLEROSIS, SEVERE JUVENILE (OMIM:208060)
Aceruloplasminemia (Orphanet:48818)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Adult-onset autosomal recessive sideroblastic anemia (Orphanet:255132)
Aggressive systemic mastocytosis (Orphanet:98850)
Albers-Schönberg osteopetrosis (Orphanet:53)
Alpha heavy-chain disease (Orphanet:100025)
Alpha-thalassemia (Orphanet:846)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alveolar echinococcosis (Orphanet:284)
Anti-glomerular basement membrane disease (Orphanet:375)
Apolipoprotein A-I deficiency (Orphanet:425)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Ataxia - pancytopenia (Orphanet:2585)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Atypical Gaucher disease due to saposin C deficiency (Orphanet:309252)
Atypical hemolytic uremic syndrome with B factor anomaly (Orphanet:93578)
Atypical hemolytic uremic syndrome with C3 anomaly (Orphanet:93575)
Atypical hemolytic uremic syndrome with H factor anomaly (Orphanet:93579)
Atypical hemolytic uremic syndrome with I factor anomaly (Orphanet:93580)
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly (Orphanet:93576)
Atypical hemolytic uremic syndrome with anti-factor H antibodies (Orphanet:93581)
Atypical hemolytic uremic syndrome with thrombomodulin anomaly (Orphanet:217023)
Autoimmune polyendocrinopathy type 1 (Orphanet:3453)
Autosomal dominant Kenny-Caffey syndrome (Orphanet:93325)
Autosomal dominant macrothrombocytopenia (Orphanet:140957)
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia (Orphanet:34149)
Autosomal dominant severe congenital neutropenia (Orphanet:486)
Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Autosomal recessive epidermolysis bullosa simplex (Orphanet:89838)
Autosomal recessive lymphoproliferative disease (Orphanet:238505)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive medullary cystic kidney disease (Orphanet:655)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive sideroblastic anemia (Orphanet:260305)
BLEEDING DISORDER, PLATELET-TYPE, 19 (OMIM:616176)
BONE MARROW FAILURE SYNDROME 2 (OMIM:615715)
Beta-thalassemia (Orphanet:848)
Beta-thalassemia - X-linked thrombocytopenia (Orphanet:231393)
Beta-thalassemia associated with another hemoglobin anomaly (Orphanet:231230)
Beta-thalassemia intermedia (Orphanet:231222)
Beta-thalassemia major (Orphanet:231214)
Blackfan-Diamond anemia (Orphanet:124)
Blau syndrome (Orphanet:90340)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
CINCA syndrome (Orphanet:1451)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Camurati-Engelmann disease (Orphanet:1328)
Carney triad (Orphanet:139411)
Cartilage-hair hypoplasia (Orphanet:175)
Castleman disease (Orphanet:160)
Celiac disease, epilepsy and cerebral calcification syndrome (Orphanet:1459)
Cernunnos-XLF deficiency (Orphanet:169079)
Chronic recurrent multifocal osteomyelitis (Orphanet:324964)
Chédiak-Higashi syndrome (Orphanet:167)
Coats plus syndrome (Orphanet:313838)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital atransferrinemia (Orphanet:1195)
Congenital dyserythropoietic anemia type II (Orphanet:98873)
Congenital dyserythropoietic anemia type IV (Orphanet:293825)
Congenital rubella syndrome (Orphanet:290)
Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency (Orphanet:93583)
Congenital toxoplasmosis (Orphanet:858)
Cowden syndrome (Orphanet:201)
Cronkhite-Canada syndrome (Orphanet:2930)
Cyclic neutropenia (Orphanet:2686)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
DIAMOND-BLACKFAN ANEMIA 11 (OMIM:614900)
DIAMOND-BLACKFAN ANEMIA 9 (OMIM:613308)
DOHLE BODIES AND LEUKEMIA (OMIM:223350)
DPAGT1-CDG (Orphanet:86309)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 (OMIM:127550)
Delta-beta-thalassemia (Orphanet:231237)
Desmoplastic small round cell tumor (Orphanet:83469)
Diffuse neonatal hemangiomatosis (Orphanet:2123)
Distomatosis (Orphanet:1685)
Dominant beta-thalassemia (Orphanet:231226)
Dubowitz syndrome (Orphanet:235)
Dyskeratosis congenita (Orphanet:1775)
Dystrophic epidermolysis bullosa (Orphanet:303)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
Enchondromatosis (Orphanet:296)
Epidermolysis bullosa simplex with anodontia/hypodontia (Orphanet:2325)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
Erdheim-Chester disease (Orphanet:35687)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP M (OMIM:614087)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Fabry disease (Orphanet:324)
Familial benign copper deficiency (Orphanet:1551)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial long QT syndrome (Orphanet:768)
Fanconi anemia (Orphanet:84)
Felty syndrome (Orphanet:47612)
Fetal Gaucher disease (Orphanet:85212)
Fetal cytomegalovirus syndrome (Orphanet:294)
Fetal parvovirus syndrome (Orphanet:295)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Gamma heavy-chain disease (Orphanet:100026)
Gamma-glutamylcysteine synthetase deficiency (Orphanet:33574)
Gastrointestinal stromal tumor (Orphanet:44890)
Gaucher disease (Orphanet:355)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized dominant dystrophic epidermolysis bullosa (Orphanet:231568)
Generalized juvenile polyposis/juvenile polyposis coli (Orphanet:329971)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Glutathione synthetase deficiency (Orphanet:32)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
Glycogen storage disease due to muscle phosphofructokinase deficiency (Orphanet:371)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Good syndrome (Orphanet:169105)
HEMOGLOBIN--DELTA LOCUS (OMIM:142000)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Hairy cell leukemia variant (Orphanet:300878)
Hb Bart's hydrops fetalis (Orphanet:163596)
Hemochromatosis type 4 (Orphanet:139491)
Hemoglobin C - beta-thalassemia (Orphanet:231242)
Hemoglobin E - beta-thalassemia (Orphanet:231249)
Hemoglobinopathy Toms River (Orphanet:280615)
Hemolytic anemia due to red cell pyruvate kinase deficiency (Orphanet:766)
Hereditary hemorrhagic telangiectasia (Orphanet:774)
Hereditary nonpolyposis colon cancer (Orphanet:144)
Hereditary orotic aciduria (Orphanet:30)
Hereditary persistence of fetal hemoglobin - beta-thalassemia (Orphanet:46532)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hydatidiform mole (Orphanet:99927)
Hydrops fetalis (Orphanet:1041)
Hyperlysinemia, type I (OMIM:238700)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation (Orphanet:324525)
Hyperuricemia - anemia - renal failure (Orphanet:217330)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypophosphatasia (Orphanet:436)
ICF syndrome (Orphanet:2268)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Isobutyryl-CoA dehydrogenase deficiency (Orphanet:79159)
Isolated agammaglobulinemia (Orphanet:229717)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (OMIM:175050)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 5 (OMIM:610188)
Junctional epidermolysis bullosa (Orphanet:305)
Juvenile polyposis syndrome (Orphanet:2929)
Kenny-Caffey syndrome (Orphanet:2333)
Kindler syndrome (Orphanet:2908)
LESCH-NYHAN SYNDROME (OMIM:300322)
LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Leigh syndrome (Orphanet:506)
Leprechaunism (Orphanet:508)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Lethal recessive chondrodysplasia (Orphanet:1423)
Letterer-Siwe disease (Orphanet:99870)
Leukocyte adhesion deficiency type III (Orphanet:99844)
Lyell syndrome (Orphanet:537)
Lysinuric protein intolerance (Orphanet:470)
MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)
MELAS (Orphanet:550)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
Marden-Walker syndrome (Orphanet:2461)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcytic anemia with liver iron overload (Orphanet:83642)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Mu heavy-chain disease (Orphanet:100024)
Muckle-Wells syndrome (Orphanet:575)
NEUROBLASTOMA, SUSCEPTIBILITY TONEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED (OMIM:256700)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Neonatal hemochromatosis (Orphanet:446)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Nephronophthisis 1 (OMIM:256100)
Nephronophthisis 2 (OMIM:602088)
Nephronophthisis 3 (OMIM:604387)
Nephronophthisis 4 (OMIM:606966)
Nephronophthisis 9 (OMIM:613824)
Nephropathy - deafness - hyperparathyroidism (Orphanet:2668)
Neuroblastoma (Orphanet:635)
Non-spherocytic hemolytic anemia due to hexokinase deficiency (Orphanet:90031)
OSLAM syndrome (Orphanet:2760)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 (OMIM:611490)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrorenal syndrome (Orphanet:534)
Omenn syndrome (Orphanet:39041)
Osteopetrosis - hypogammaglobulinemia (Orphanet:178389)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE (OMIM:167850)
Pachydermoperiostosis (Orphanet:2796)
Pearson syndrome (Orphanet:699)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Primary hypereosinophilic syndrome (Orphanet:314950)
Prolidase deficiency (Orphanet:742)
Propionic acidemia (Orphanet:35)
Pycnodysostosis (Orphanet:763)
Pyridoxal phosphate-responsive seizures (Orphanet:79096)
RETICULOENDOTHELIOSIS, X-LINKED (OMIM:312500)
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia (Orphanet:71289)
Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)
Recessive dystrophic epidermolysis bullosa-generalized other (Orphanet:89842)
Recurrent infections-myelofibrosis-nephromegaly syndrome (Orphanet:369852)
Relapsing polychondritis (Orphanet:728)
Reticular dysgenesis (Orphanet:33355)
Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications (Orphanet:3018)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
Rhabdoid tumor (Orphanet:69077)
Rosaï-Dorfman disease (Orphanet:158014)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 2 (Orphanet:221016)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Saldino-Mainzer syndrome (Orphanet:140969)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Schnitzler syndrome (Orphanet:37748)
Senior-Boichis syndrome (Orphanet:84081)
Senior-Loken syndrome (Orphanet:3156)
Senior-Loken syndrome 1 (OMIM:266900)
Senior-Loken syndrome 4 (OMIM:606996)
Senior-Loken syndrome 5 (OMIM:609254)
Senior-Loken syndrome 6 (OMIM:610189)
Severe congenital hypochromic anemia with ringed sideroblasts (Orphanet:300298)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Shwachman-Diamond syndrome (Orphanet:811)
Siegler-Brewer-Carey syndrome (Orphanet:3167)
Stevens-Johnson syndrome (Orphanet:36426)
Stiff person syndrome (Orphanet:3198)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
Sweet syndrome (Orphanet:3243)
Systemic mastocytosis (Orphanet:2467)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER (OMIM:187300)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT (OMIM:273680)
THROMBOCYTOPENIA 5 (OMIM:616216)
TRIMETHYLAMINURIA (OMIM:602079)
Takayasu arteritis (Orphanet:3287)
Thrombocytopenia - absent radius (Orphanet:3320)
Thrombotic thrombocytopenic purpura (Orphanet:54057)
Thyrocerebrorenal syndrome (Orphanet:3327)
Transaldolase deficiency (Orphanet:101028)
Transcobalamin deficiency (Orphanet:859)
Transient erythroblastopenia of childhood (Orphanet:98871)
Typical hemolytic uremic syndrome (Orphanet:90038)
Umbilical cord ulceration - intestinal atresia (Orphanet:3405)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
WT limb-blood syndrome (Orphanet:3466)
Weismann-Netter syndrome (Orphanet:3344)
Whipple disease (Orphanet:3452)
Wilson disease (Orphanet:905)
Wiskott-Aldrich syndrome (Orphanet:906)
Wolfram syndrome (Orphanet:3463)
Wolman disease (Orphanet:75233)
X-linked agammaglobulinemia (Orphanet:47)
X-linked lymphoproliferative disease (Orphanet:2442)
X-linked sideroblastic anemia (Orphanet:75563)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)