Hepatomegaly
Symptom Information:
Symptom ID: | HPO:0002240 | |||||||||||||||||
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 abdomen(HPO:0001438) Abnormality of the abdominal organs(HPO:0002012) Visceromegaly(HPO:0003271) Hepatomegaly(HPO:0002240) Abnormality of the liver(HPO:0001392) Hepatomegaly(HPO:0002240) MedDRA: Hepatobiliary disorders(MedDRA:10019805) Hepatic and hepatobiliary disorders(MedDRA:10019654) Hepatobiliary signs and symptoms(MedDRA:10019709) Hepatomegaly(HPO:0002240) |
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Database Frequency: | 467 / 7739 | |||||||||||||||||
Resource: |
All diseases associated with this symptom:
3-hydroxy-3-methylglutaric aciduria | (Orphanet:20) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
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) |
ALG13-CDG | (Orphanet:324422) |
ALG2-CDG | (Orphanet:79326) |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | (OMIM:615631) |
AREDYLD syndrome | (Orphanet:1133) |
ARIMA SYNDROME | (OMIM:243910) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
ATTRV122I amyloidosis | (Orphanet:85451) |
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) |
Aarskog-Scott syndrome | (Orphanet:915) |
Acrocephalopolydactyly | (Orphanet:221054) |
Acrocephalosyndactyly | (Orphanet:946) |
Acrodermatitis enteropathica, zinc deficiency type | (Orphanet:37) |
Acroosteolysis, dominant type | (Orphanet:955) |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | (Orphanet:217371) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Adult Still's disease | (Orphanet:829) |
Aggressive systemic mastocytosis | (Orphanet:98850) |
Alagille syndrome | (Orphanet:52) |
Alpers syndrome | (Orphanet:726) |
Alpha heavy-chain disease | (Orphanet:100025) |
Alpha-1-antitrypsin deficiency | (Orphanet:60) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alpha-mannosidosis | (Orphanet:61) |
Alström syndrome | (Orphanet:64) |
Alveolar echinococcosis | (Orphanet:284) |
Amish lethal microcephaly | (Orphanet:99742) |
Argininemia | (Orphanet:90) |
Argininosuccinic aciduria | (Orphanet:23) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Aspartylglucosaminuria | (Orphanet:93) |
Autoimmune lymphoproliferative syndrome | (Orphanet:3261) |
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) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 | (OMIM:214950) |
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 | (OMIM:616278) |
Babesiosis | (Orphanet:108) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
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) |
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | (Orphanet:96193) |
Benign recurrent intrahepatic cholestasis | (Orphanet:65682) |
Benign recurrent intrahepatic cholestasis type 1 | (Orphanet:99960) |
Benign recurrent intrahepatic cholestasis type 2 | (Orphanet:99961) |
Berardinelli-Seip congenital lipodystrophy | (Orphanet:528) |
Beta-thalassemia | (Orphanet:848) |
Beta-thalassemia intermedia | (Orphanet:231222) |
Beta-thalassemia major | (Orphanet:231214) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bilateral striopallidodentate calcinosis | (Orphanet:1980) |
Biliary atresia | (Orphanet:30391) |
Biotinidase deficiency | (Orphanet:79241) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Budd-Chiari syndrome | (Orphanet:131) |
C syndrome | (Orphanet:1308) |
CANDLE syndrome | (Orphanet:325004) |
CINCA syndrome | (Orphanet:1451) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COG4-CDG | (Orphanet:263501) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl | (OMIM:614576) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Campomelia, Cumming type | (Orphanet:1318) |
Camurati-Engelmann disease | (Orphanet:1328) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cardiomyopathy, familial restrictive 2 | (OMIM:609578) |
Carnitine palmitoyl transferase 1A deficiency | (Orphanet:156) |
Carnitine palmitoyl transferase II deficiency | (Orphanet:157) |
Carnitine palmitoyl transferase II deficiency, neonatal form | (Orphanet:228308) |
Carnitine palmitoyl transferase II deficiency, severe infantile form | (Orphanet:228305) |
Carnitine uptake deficiency | (Orphanet:158) |
Carnitine-acylcarnitine translocase deficiency | (Orphanet:159) |
Caroli disease | (Orphanet:53035) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Castleman disease | (Orphanet:160) |
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) |
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | (Orphanet:309854) |
Citrullinemia type I | (Orphanet:247525) |
Classic galactosemia | (Orphanet:79239) |
Classical homocystinuria | (Orphanet:394) |
Classical mycosis fungoides | (Orphanet:2584) |
Cockayne syndrome | (Orphanet:191) |
Cogan syndrome | (Orphanet:1467) |
Cold agglutinin disease | (Orphanet:56425) |
Combined immunodeficiency due to CRAC channel dysfunction | (Orphanet:169090) |
Combined immunodeficiency due to ZAP70 deficiency | (Orphanet:911) |
Combined oxidative phosphorylation defect type 11 | (Orphanet:324535) |
Combined oxidative phosphorylation defect type 4 | (Orphanet:254925) |
Combined oxidative phosphorylation defect type 9 | (Orphanet:319509) |
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 bile acid synthesis defect type 4 | (Orphanet:79095) |
Congenital dyserythropoietic anemia type IV | (Orphanet:293825) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital pulmonary lymphangiectasia | (Orphanet:2414) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital toxoplasmosis | (Orphanet:858) |
Constitutional megaloblastic anemia with severe neurologic disease | (Orphanet:319651) |
Costello syndrome | (Orphanet:3071) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Cronkhite-Canada syndrome | (Orphanet:2930) |
Cryoglobulinemic vasculitis | (Orphanet:91138) |
Cutaneous mastocytosis | (Orphanet:66646) |
Cystic fibrosis | (Orphanet:586) |
Cystinosis | (Orphanet:213) |
D,L-2-hydroxyglutaric aciduria | (Orphanet:356978) |
DK1-CDG | (Orphanet:91131) |
DPM1-CDG | (Orphanet:79322) |
Deafness - lymphedema - leukemia | (Orphanet:3226) |
Dehydrated hereditary stomatocytosis | (Orphanet:3202) |
Dengue fever | (Orphanet:99828) |
Desmoplastic small round cell tumor | (Orphanet:83469) |
Diffuse cutaneous mastocytosis | (Orphanet:79456) |
Diffuse neonatal hemangiomatosis | (Orphanet:2123) |
Distal monosomy 17q | (Orphanet:1597) |
Distomatosis | (Orphanet:1685) |
Dorfman-Chanarin disease | (Orphanet:98907) |
Dubin-Johnson syndrome | (Orphanet:234) |
Dyskeratosis congenita | (Orphanet:1775) |
Dysplastic cortical hyperostosis | (Orphanet:2204) |
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | (OMIM:615924) |
Encephalopathy due to prosaposin deficiency | (Orphanet:139406) |
FAMILIAL MEDITERRANEAN FEVER | (OMIM:249100) |
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG | (OMIM:616026) |
Faisalabad histiocytosis | (Orphanet:254707) |
Familial apolipoprotein C-II deficiency | (Orphanet:309020) |
Familial hemophagocytic lymphohistiocytosis | (Orphanet:540) |
Familial isolated restrictive cardiomyopathy | (Orphanet:75249) |
Familial partial lipodystrophy, Dunnigan type | (Orphanet:2348) |
Familial partial lipodystrophy, Köbberling type | (Orphanet:79084) |
Familial renal amyloidosis | (Orphanet:85450) |
Familial symmetric lipomatosis | (Orphanet:2398) |
Farber lipogranulomatosis | (Orphanet:333) |
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency | (Orphanet:289527) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Felty syndrome | (Orphanet:47612) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal cytomegalovirus syndrome | (Orphanet:294) |
Fish-eye disease | (Orphanet:79292) |
Free sialic acid storage disease | (Orphanet:834) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Fructose-1,6-bisphosphatase deficiency | (Orphanet:348) |
Fucosidosis | (Orphanet:349) |
GCS1-CDG | (Orphanet:79330) |
GELEOPHYSIC DYSPLASIA 1 | (OMIM:231050) |
GELEOPHYSIC DYSPLASIA 2 | (OMIM:614185) |
GLYCOGEN STORAGE DISEASE IXa1 | (OMIM:306000) |
GLYCOGEN STORAGE DISEASE IXc | (OMIM:613027) |
GLYCOGEN STORAGE DISEASE Ic | (OMIM:232240) |
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) |
Galactosemia | (Orphanet:352) |
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) |
Geleophysic dysplasia | (Orphanet:2623) |
Generalized congenital lipodystrophy with myopathy | (Orphanet:228429) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Glycogen storage disease due to acid maltase deficiency | (Orphanet:365) |
Glycogen storage disease due to acid maltase deficiency, infantile onset | (Orphanet:308552) |
Glycogen storage disease due to glucose-6-phosphatase deficiency | (Orphanet:364) |
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 glycogen debranching enzyme deficiency | (Orphanet:366) |
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | (Orphanet:79240) |
Glycogen storage disease due to liver glycogen phosphorylase deficiency | (Orphanet:369) |
Glycogen storage disease due to liver phosphorylase kinase deficiency | (Orphanet:264580) |
Glycogen storage disease due to phosphorylase kinase deficiency | (Orphanet:370) |
Greenberg dysplasia | (Orphanet:1426) |
Griscelli disease | (Orphanet:381) |
Griscelli disease type 2 | (Orphanet:79477) |
H syndrome | (Orphanet:168569) |
HEME OXYGENASE 1 DEFICIENCY | (OMIM:614034) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | (OMIM:267700) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | (OMIM:603553) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 | (OMIM:603552) |
HYPERBILIRUBINEMIA, SHUNT, PRIMARY | (OMIM:237800) |
HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION | (OMIM:601979) |
Hand-Schüller-Christian disease | (Orphanet:99873) |
Hashimoto-Pritzker syndrome | (Orphanet:99872) |
Hb Bart's hydrops fetalis | (Orphanet:163596) |
Hemochromatosis type 3 | (Orphanet:225123) |
Hemochromatosis type 4 | (Orphanet:139491) |
Hemochromatosis, type 1 | (OMIM:235200) |
Hemochromatosis, type 2A | (OMIM:602390) |
Hemoglobin H disease | (Orphanet:93616) |
Hemoglobinopathy Toms River | (Orphanet:280615) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary coproporphyria | (Orphanet:79273) |
Hereditary fructose intolerance | (Orphanet:469) |
Hereditary nonpolyposis colon cancer | (Orphanet:144) |
Hereditary persistence of fetal hemoglobin - beta-thalassemia | (Orphanet:46532) |
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) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | (Orphanet:83639) |
Hyperimmunoglobulinemia D with periodic fever | (Orphanet:343) |
Hypermethioninemia due to glycine N-methyltransferase deficiency | (Orphanet:289891) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | (Orphanet:324525) |
Hypocomplementemic urticarial vasculitis | (Orphanet:36412) |
IMMUNODEFICIENCY, COMMON VARIABLE, 1 | (OMIM:607594) |
IMMUNODEFICIENCY, COMMON VARIABLE, 2 | (OMIM:240500) |
INFANTILE LIVER FAILURE SYNDROME 2 | (OMIM:615486) |
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 Refsum disease | (Orphanet:772) |
Infantile regressive hypertriglyceridemia and hepatosteatosis | (Orphanet:300293) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated polycystic liver disease | (Orphanet:2924) |
JMP syndrome | (Orphanet:324999) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Juvenile idiopathic arthritis | (Orphanet:92) |
KAGAMI-OGATA SYNDROME | (OMIM:608149) |
Klatskin tumor | (Orphanet:99978) |
Klippel-Trénaunay syndrome | (Orphanet:90308) |
LCAT deficiency | (Orphanet:650) |
LIG4 syndrome | (Orphanet:99812) |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 | (OMIM:608594) |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | (OMIM:269700) |
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 | (OMIM:615238) |
LYMPHOPROLIFERATIVE SYNDROME 1 | (OMIM:613011) |
LYMPHOPROLIFERATIVE SYNDROME 2 | (OMIM:615122) |
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | (OMIM:308240) |
Lathosterolosis | (Orphanet:46059) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Left ventricular noncompaction 10 | (OMIM:615396) |
Leigh syndrome | (Orphanet:506) |
Leprechaunism | (Orphanet:508) |
Leukocyte adhesion deficiency type III | (Orphanet:99844) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:5) |
Lymphoid interstitial pneumonia | (Orphanet:79128) |
Lysinuric protein intolerance | (Orphanet:470) |
MELAS | (Orphanet:550) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MITOCHONDRIAL MYOPATHY | (OMIM:251900) |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
MPI-CDG | (Orphanet:79319) |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 | (OMIM:614299) |
Macrosomia - microphthalmia - cleft palate | (Orphanet:2432) |
Majeed syndrome | (Orphanet:77297) |
Mandibular hypoplasia-deafness-progeroid syndrome | (Orphanet:363649) |
Marshall syndrome with periodic fever | (Orphanet:42642) |
Mast cell sarcoma | (Orphanet:66661) |
Mastocytosis | (Orphanet:98292) |
McLeod neuroacanthocytosis syndrome | (Orphanet:59306) |
Medium chain acyl-CoA dehydrogenase deficiency | (Orphanet:42) |
Methylmalonic acidemia without homocystinuria | (Orphanet:293355) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
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 2, attenuated form | (Orphanet:217093) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 3 | (Orphanet:581) |
Mucopolysaccharidosis type 4A | (Orphanet:309297) |
Mucopolysaccharidosis type 4B | (Orphanet:309310) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multifocal atrial tachycardia | (Orphanet:3282) |
Multifocal muscular fibrosis - obstructed vessels | (Orphanet:2033) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple sulfatase deficiency | (Orphanet:585) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Navajo neurohepatopathy | (Orphanet:255229) |
Neonatal hemochromatosis | (Orphanet:446) |
Neonatal intrahepatic cholestasis due to citrin deficiency | (Orphanet:247598) |
Neonatal severe primary hyperparathyroidism | (Orphanet:417) |
Nephronophthisis 19 | (OMIM:616217) |
Nephronophthisis 9 | (OMIM:613824) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Neutral lipid storage disease | (Orphanet:165) |
Neutral lipid storage myopathy | (Orphanet:98908) |
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) |
Noonan syndrome | (Orphanet:648) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | (OMIM:615085) |
Omenn syndrome | (Orphanet:39041) |
Opsismodysplasia | (Orphanet:2746) |
Osteocraniostenosis | (Orphanet:2763) |
Osteopetrosis with renal tubular acidosis | (Orphanet:2785) |
PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX | (OMIM:260480) |
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) | (OMIM:614882) |
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) | (OMIM:614887) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) | (OMIM:614859) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) | (OMIM:614862) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) | (OMIM:614870) |
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) | (OMIM:614872) |
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) | (OMIM:614876) |
PMM2-CDG | (Orphanet:79318) |
POEMS syndrome | (Orphanet:2905) |
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | (OMIM:615895) |
Pachydermoperiostosis | (Orphanet:2796) |
Pachyonychia congenita | (Orphanet:2309) |
Palmoplantar keratoderma-esophageal carcinoma syndrome | (Orphanet:2198) |
Pancreatic insufficiency - anemia - hyperostosis | (Orphanet:199337) |
Pearson syndrome | (Orphanet:699) |
Pediatric systemic lupus erythematosus | (Orphanet:93552) |
Perlman syndrome | (Orphanet:2849) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Persistent polyclonal B-cell lymphocytosis | (Orphanet:300324) |
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome | (Orphanet:254723) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polycythemia vera | (Orphanet:729) |
Polyglucosan body myopathy type 1 | (ORPHA:397937) |
Polymyositis | (Orphanet:732) |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | (Orphanet:306547) |
Primary Fanconi syndrome | (Orphanet:3337) |
Primary cutaneous lymphoma | (Orphanet:542) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
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) |
Propionic acidemia | (Orphanet:35) |
Proteasome disability syndrome | (Orphanet:324977) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Pulmonary arterial hypertension | (Orphanet:182090) |
Pulmonary atresia - intact ventricular septum | (Orphanet:1208) |
Pycnodysostosis | (Orphanet:763) |
Pyridoxine-dependent epilepsy | (Orphanet:3006) |
Pyruvate carboxylase deficiency | (Orphanet:3008) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | (OMIM:614470) |
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | (OMIM:208540) |
RFT1-CDG | (Orphanet:244310) |
Recurrent infections-myelofibrosis-nephromegaly syndrome | (Orphanet:369852) |
Renal-hepatic-pancreatic dysplasia | (Orphanet:294415) |
Reticular dysgenesis | (Orphanet:33355) |
Rett syndrome | (Orphanet:778) |
Reynolds syndrome | (Orphanet:779) |
Roifman syndrome | (Orphanet:353298) |
Rosaï-Dorfman disease | (Orphanet:158014) |
SCARF syndrome | (Orphanet:3134) |
Saldino-Mainzer syndrome | (Orphanet:140969) |
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) |
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) |
Short-rib thoracic dysplasia 5 with or without polydactyly | (OMIM:614376) |
Shwachman-Diamond syndrome | (Orphanet:811) |
Sialidosis type 1 | (Orphanet:812) |
Sialidosis type 2 | (Orphanet:87876) |
Sialuria | (Orphanet:3166) |
Sickle cell anemia | (Orphanet:232) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Spondyloepimetaphyseal dysplasia, Shohat type | (Orphanet:93352) |
Sterile multifocal osteomyelitis with periostitis and pustulosis | (Orphanet:210115) |
Syndromic diarrhea | (Orphanet:84064) |
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) |
T-B+ severe combined immunodeficiency due to gamma chain deficiency | (Orphanet:276) |
THROMBOCYTHEMIA, X-LINKED | (OMIM:300331) |
TMEM165-CDG | (Orphanet:314667) |
TRAPS syndrome | (Orphanet:32960) |
TRICHOHEPATOENTERIC SYNDROME 1 | (OMIM:222470) |
TRICHOHEPATOENTERIC SYNDROME 2 | (OMIM:614602) |
Tangier disease | (Orphanet:31150) |
Tay-Sachs disease | (Orphanet:845) |
Thoraco-abdominal enteric duplication | (Orphanet:1759) |
Thoracolaryngopelvic dysplasia | (Orphanet:3317) |
Transaldolase deficiency | (Orphanet:101028) |
Transketolase deficiency | (ORPHA:488618) |
Triploidy | (Orphanet:3376) |
Tropical endomyocardial fibrosis | (Orphanet:75565) |
Tumoral calcinosis | (Orphanet:53715) |
Typhoid | (Orphanet:99745) |
Tyrosinemia type 1 | (Orphanet:882) |
Very long chain acyl-CoA dehydrogenase deficiency | (Orphanet:26793) |
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) |
Waldenström macroglobulinemia | (Orphanet:33226) |
Whipple disease | (Orphanet:3452) |
Wilson disease | (Orphanet:905) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wolman disease | (Orphanet:75233) |
X-linked hyper-IgM syndrome | (Orphanet:101088) |
X-linked lymphoproliferative disease | (Orphanet:2442) |
Zellweger syndrome | (Orphanet:912) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
[DEL] GLYCOGEN STORAGE DISEASE Ib | (OMIM:232220) |