Splenomegaly
Symptom Information:
Symptom ID: | HPO:0001744 | |||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |