Splenomegaly

Symptom Information:

Symptom ID: HPO:0001744
Synonyms:
Splenomegaly (disorder) [Orphanet:31600]
Splenomegaly [Orphanet:31600]
Splenomegaly [OMIM:Splenomegaly]
Splenomegaly [MedDRA:10041660]
Chronic congestive splenomegaly [MedDRA:10041660]
Spleen dullness enlarged [MedDRA:10041660]
Spleen enlarged [MedDRA:10041660]
Splenomegaly (1 patient) [OMIM:Splenomegaly (1 patient)]
Splenomegaly (e.g. Hb Jacksonville 141900.0401) [OMIM:Splenomegaly (e.g. Hb Jacksonville 141900.0401)]
Splenomegaly (harderoporphyria) [OMIM:Splenomegaly (harderoporphyria)]
Splenomegaly (in childhood) [OMIM:Splenomegaly (in childhood)]
Splenomegaly (in some patients) [OMIM:Splenomegaly (in some patients)]
Splenomegaly (less common) [OMIM:Splenomegaly (less common)]
Splenomegaly (type II, all subtypes) [OMIM:Splenomegaly (type II, all subtypes)]
Splenomegaly (variable) [OMIM:Splenomegaly (variable)]
Quality:
Cross references:
Orphanet:31600 "Splenomegaly" [Orphanet:31600]
OMIM: "Splenomegaly" [OMIM:Splenomegaly]
OMIM: "Splenomegaly (1 patient)" [OMIM:Splenomegaly (1 patient)]
OMIM: "Splenomegaly (e.g. Hb Jacksonville 141900.0401)" [OMIM:Splenomegaly (e.g. Hb Jacksonville 141900.0401)]
OMIM: "Splenomegaly (harderoporphyria)" [OMIM:Splenomegaly (harderoporphyria)]
OMIM: "Splenomegaly (in childhood)" [OMIM:Splenomegaly (in childhood)]
OMIM: "Splenomegaly (in some patients)" [OMIM:Splenomegaly (in some patients)]
OMIM: "Splenomegaly (less common)" [OMIM:Splenomegaly (less common)]
OMIM: "Splenomegaly (type II, all subtypes)" [OMIM:Splenomegaly (type II, all subtypes)]
OMIM: "Splenomegaly (variable)" [OMIM:Splenomegaly (variable)]
UMLS:C0038002 "Splenomegaly" [HPO:0001744]
UMLS:C0038002 "Splenomegaly" [Orphanet:31600]
Is a (Direct Parents):
HPO         Abnormality of the spleen
HPO         Visceromegaly
MedDRA Spleen disorders
Orphanet Abnormality of the spleen
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the immune system(HPO:0002715)
          Abnormality of the lymphatic system(HPO:0100763)
             Abnormality of the spleen(HPO:0001743)
                Splenomegaly(HPO:0001744)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal organs(HPO:0002012)
             Abnormality of the spleen(HPO:0001743)
                Splenomegaly(HPO:0001744)
             Visceromegaly(HPO:0003271)
                Splenomegaly(HPO:0001744)
MedDRA:
Blood and lymphatic system disorders(MedDRA:10005329)
    Spleen, lymphatic and reticuloendothelial system disorders(MedDRA:10041641)
       Spleen disorders(MedDRA:10041635)
          Splenomegaly(HPO:0001744)
Database Frequency: 337 / 7739
Resource:

All diseases associated with this symptom:

22q11.2 deletion syndrome (Orphanet:567)
8p11.2 deletion syndrome (Orphanet:251066)
ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
AL amyloidosis (Orphanet:85443)
ALG1-CDG (Orphanet:79327)
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRINMETABOLISM (OMIM:206400)
AREDYLD syndrome (Orphanet:1133)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Acrodermatitis enteropathica, zinc deficiency type (Orphanet:37)
Acroosteolysis, dominant type (Orphanet:955)
Adult Still's disease (Orphanet:829)
Aggressive systemic mastocytosis (Orphanet:98850)
Alpha heavy-chain disease (Orphanet:100025)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia (Orphanet:846)
Alpha-thalassemia - myelodysplastic syndrome (Orphanet:231401)
Alström syndrome (Orphanet:64)
Alveolar echinococcosis (Orphanet:284)
Apolipoprotein A-I deficiency (Orphanet:425)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - pancytopenia (Orphanet:2585)
Autoimmune hemolytic anemia (Orphanet:98375)
Autoimmune hemolytic anemia, cold type (Orphanet:228312)
Autoimmune lymphoproliferative syndrome (Orphanet:3261)
Autoimmune lymphoproliferative syndrome with recurrent infections (Orphanet:275517)
Autosomal dominant beta2-microglobulinic amyloidosis (Orphanet:314652)
Autosomal recessive lymphoproliferative disease (Orphanet:238505)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive polycystic kidney disease (Orphanet:731)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Babesiosis (Orphanet:108)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Behçet disease (Orphanet:117)
Bernard-Soulier syndrome (Orphanet:274)
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)
Biotinidase deficiency (Orphanet:79241)
Blau syndrome (Orphanet:90340)
Budd-Chiari syndrome (Orphanet:131)
CANDLE syndrome (Orphanet:325004)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEINLIPASE (OMIM:118830)
CINCA syndrome (Orphanet:1451)
CLOVE syndrome (Orphanet:140944)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
COG4-CDG (Orphanet:263501)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Camurati-Engelmann disease (Orphanet:1328)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Castleman disease (Orphanet:160)
Cerebro-reno-digital syndrome (Orphanet:1396)
Cholestasis - lymphedema (Orphanet:1414)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Cholesteryl ester storage disease (Orphanet:75234)
Choreoacanthocytosis (Orphanet:2388)
Chronic granulomatous disease (Orphanet:379)
Chédiak-Higashi syndrome (Orphanet:167)
Classical mycosis fungoides (Orphanet:2584)
Cockayne syndrome (Orphanet:191)
Cogan syndrome (Orphanet:1467)
Cold agglutinin disease (Orphanet:56425)
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency (Orphanet:231154)
Combined immunodeficiency due to CRAC channel dysfunction (Orphanet:169090)
Combined immunodeficiency due to ZAP70 deficiency (Orphanet:911)
Common variable immunodeficiency (Orphanet:1572)
Congenital bile acid synthesis defect type 1 (Orphanet:79301)
Congenital bile acid synthesis defect type 2 (Orphanet:79303)
Congenital bile acid synthesis defect type 3 (Orphanet:79302)
Congenital dyserythropoietic anemia type I (Orphanet:98869)
Congenital dyserythropoietic anemia type II (Orphanet:98873)
Congenital dyserythropoietic anemia type IV (Orphanet:293825)
Congenital erythropoietic porphyria (Orphanet:79277)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital pulmonary lymphangiectasia (Orphanet:2414)
Congenital rubella syndrome (Orphanet:290)
Cronkhite-Canada syndrome (Orphanet:2930)
Cryoglobulinemic vasculitis (Orphanet:91138)
Cutaneous mastocytosis (Orphanet:66646)
Cystinosis (Orphanet:213)
DK1-CDG (Orphanet:91131)
DPM1-CDG (Orphanet:79322)
Deafness - lymphedema - leukemia (Orphanet:3226)
Dehydrated hereditary stomatocytosis (Orphanet:3202)
Desmosterolosis (Orphanet:35107)
Dominant beta-thalassemia (Orphanet:231226)
Drug-induced autoimmune hemolytic anemia (Orphanet:90037)
Dyskeratosis congenita (Orphanet:1775)
Dysplastic cortical hyperostosis (Orphanet:2204)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Essential thrombocythemia (Orphanet:3318)
FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Faisalabad histiocytosis (Orphanet:254707)
Familial Mediterranean fever (Orphanet:342)
Familial apolipoprotein C-II deficiency (Orphanet:309020)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial lipoprotein lipase deficiency (Orphanet:309015)
Familial partial lipodystrophy, Dunnigan type (Orphanet:2348)
Familial renal amyloidosis (Orphanet:85450)
Familial thrombocytosis (Orphanet:71493)
Farber lipogranulomatosis (Orphanet:333)
Felty syndrome (Orphanet:47612)
Fetal Gaucher disease (Orphanet:85212)
Fetal cytomegalovirus syndrome (Orphanet:294)
Fish-eye disease (Orphanet:79292)
Follicular lymphoma (Orphanet:545)
Free sialic acid storage disease (Orphanet:834)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Fucosidosis (Orphanet:349)
GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
GLYCOPROTEIN STORAGE DISEASE (OMIM:232900)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE (OMIM:233690)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE I (OMIM:233700)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE II (OMIM:233710)
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Galactose epimerase deficiency (Orphanet:79238)
Gamma heavy-chain disease (Orphanet:100026)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
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)
Granulomatous slack skin (Orphanet:33111)
Gray platelet syndrome (Orphanet:721)
Griscelli disease (Orphanet:381)
Griscelli disease type 2 (Orphanet:79477)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
H syndrome (Orphanet:168569)
HEMOGLOBIN--BETA LOCUS (OMIM:141900)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
HYPERBILIRUBINEMIA, SHUNT, PRIMARY (OMIM:237800)
Hairy cell leukemia variant (Orphanet:300878)
Hashimoto-Pritzker syndrome (Orphanet:99872)
Hb Bart's hydrops fetalis (Orphanet:163596)
Hemochromatosis, type 1 (OMIM:235200)
Hemochromatosis, type 2A (OMIM:602390)
Hemoglobin C - beta-thalassemia (Orphanet:231242)
Hemoglobin H disease (Orphanet:93616)
Hemolytic anemia due to diphosphoglycerate mutase deficiency (Orphanet:714)
Hemolytic anemia due to glucophosphate isomerase deficiency (Orphanet:712)
Hemolytic anemia due to red cell pyruvate kinase deficiency (Orphanet:766)
Hennekam syndrome (Orphanet:2136)
Hereditary coproporphyria (Orphanet:79273)
Hereditary orotic aciduria (Orphanet:30)
Hereditary persistence of fetal hemoglobin - beta-thalassemia (Orphanet:46532)
Hereditary spherocytosis (Orphanet:822)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hodgkin lymphoma (Orphanet:98293)
Hodgkin lymphoma, classical (Orphanet:391)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydatidosis (Orphanet:400)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (Orphanet:83639)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Hyperlipoproteinemia type 1 (Orphanet:411)
Hypocomplementemic urticarial vasculitis (Orphanet:36412)
IMMUNODEFICIENCY 14 (OMIM:615513)
IMMUNODEFICIENCY 16 (OMIM:615593)
IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Ichthyosis - hepatosplenomegaly - cerebellar degeneration (Orphanet:2274)
Ichthyosis - hypotrichosis - sclerosing cholangitis (Orphanet:59303)
Idiopathic hypereosinophilic syndrome (Orphanet:3260)
Immunodeficiency due to CD25 deficiency (Orphanet:169100)
Immunodeficiency with natural-killer cell deficiency (Orphanet:75391)
Infantile regressive hypertriglyceridemia and hepatosteatosis (Orphanet:300293)
JMP syndrome (Orphanet:324999)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome with hepatic defect (Orphanet:1454)
Juvenile idiopathic arthritis (Orphanet:92)
KAGAMI-OGATA SYNDROME (OMIM:608149)
LCAT deficiency (Orphanet:650)
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Legionellosis (Orphanet:549)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Leukocyte adhesion deficiency type III (Orphanet:99844)
Lysinuric protein intolerance (Orphanet:470)
Majeed syndrome (Orphanet:77297)
Mantle cell lymphoma (Orphanet:52416)
Marshall syndrome with periodic fever (Orphanet:42642)
Mast cell sarcoma (Orphanet:66661)
Mastocytosis (Orphanet:98292)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Mediterranean macrothrombocytopenia (Orphanet:101022)
Mevalonic aciduria (Orphanet:29)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mixed connective tissue disease (Orphanet:809)
Mu heavy-chain disease (Orphanet:100024)
Muckle-Wells syndrome (Orphanet:575)
Mucolipidosis type 2 (Orphanet:576)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multifocal muscular fibrosis - obstructed vessels (Orphanet:2033)
Multiple sulfatase deficiency (Orphanet:585)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Nakajo-Nishimura syndrome (Orphanet:2615)
Neonatal hemochromatosis (Orphanet:446)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Nephronophthisis 19 (OMIM:616217)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Niemann-Pick disease type A (Orphanet:77292)
Niemann-Pick disease type B (Orphanet:77293)
Niemann-Pick disease type C (Orphanet:646)
Niemann-Pick disease type E (Orphanet:99022)
Nodular lymphocyte predominant Hodgkin lymphoma (Orphanet:86893)
Nodular non-suppurative panniculitis (Orphanet:33577)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Non-spherocytic hemolytic anemia due to hexokinase deficiency (Orphanet:90031)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Okamoto syndrome (Orphanet:2729)
Omenn syndrome (Orphanet:39041)
Opsismodysplasia (Orphanet:2746)
Ornithine transcarbamylase deficiency (Orphanet:664)
Osteopetrosis (Orphanet:2781)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
POEMS syndrome (Orphanet:2905)
Pachydermoperiostosis (Orphanet:2796)
Pancreatic insufficiency - anemia - hyperostosis (Orphanet:199337)
Persistent polyclonal B-cell lymphocytosis (Orphanet:300324)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Poikiloderma with neutropenia (Orphanet:221046)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polycythemia vera (Orphanet:729)
Primary cutaneous lymphoma (Orphanet:542)
Primary familial polycythemia (Orphanet:90042)
Primary hypereosinophilic syndrome (Orphanet:314950)
Primary lipodystrophy (Orphanet:90970)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Progressive familial intrahepatic cholestasis type 1 (Orphanet:79306)
Progressive familial intrahepatic cholestasis type 2 (Orphanet:79304)
Progressive familial intrahepatic cholestasis type 3 (Orphanet:79305)
Prolidase deficiency (Orphanet:742)
Proteasome disability syndrome (Orphanet:324977)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pycnodysostosis (Orphanet:763)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Recurrent infections-myelofibrosis-nephromegaly syndrome (Orphanet:369852)
Refsum disease (Orphanet:773)
Reticular dysgenesis (Orphanet:33355)
Reynolds syndrome (Orphanet:779)
Roifman syndrome (Orphanet:353298)
Rosaï-Dorfman disease (Orphanet:158014)
SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1 (OMIM:109270)
SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T HELPER CELLS (OMIM:183350)
SPLENOPORTAL VASCULAR ANOMALIES (OMIM:271500)
Sandhoff disease (Orphanet:796)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Sarcoidosis (Orphanet:797)
Scheie syndrome (Orphanet:93474)
Schnitzler syndrome (Orphanet:37748)
Scrub typhus (Orphanet:83317)
Sea-blue histiocytosis (Orphanet:158029)
Severe combined immunodeficiency (Orphanet:183660)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe congenital hypochromic anemia with ringed sideroblasts (Orphanet:300298)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Sialidosis type 1 (Orphanet:812)
Sialuria (Orphanet:3166)
Sickle cell anemia (Orphanet:232)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Sitosterolemia (Orphanet:2882)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Sterile multifocal osteomyelitis with periostitis and pustulosis (Orphanet:210115)
Susceptibility to chronic infection by Epstein-Barr virus (Orphanet:2566)
Sweet syndrome (Orphanet:3243)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
Systemic mastocytosis (Orphanet:2467)
Systemic-onset juvenile idiopathic arthritis (Orphanet:85414)
Sézary syndrome (Orphanet:3162)
T-B+ severe combined immunodeficiency due to CD45 deficiency (Orphanet:169157)
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (Orphanet:169154)
THROMBOCYTHEMIA, X-LINKED (OMIM:300331)
TRAPS syndrome (Orphanet:32960)
TRIMETHYLAMINURIA (OMIM:602079)
Tangier disease (Orphanet:31150)
Tay-Sachs disease (Orphanet:845)
Thoracolaryngopelvic dysplasia (Orphanet:3317)
Transaldolase deficiency (Orphanet:101028)
Triose phosphate-isomerase deficiency (Orphanet:868)
Tumoral calcinosis (Orphanet:53715)
Typhoid (Orphanet:99745)
Tyrosinemia type 1 (Orphanet:882)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Waldenström macroglobulinemia (Orphanet:33226)
Whipple disease (Orphanet:3452)
Wilson disease (Orphanet:905)
Wolman disease (Orphanet:75233)
X-linked hyper-IgM syndrome (Orphanet:101088)
X-linked lymphoproliferative disease (Orphanet:2442)
Zimmermann-Laband syndrome (Orphanet:3473)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)