Hepatomegaly

Symptom Information:

Symptom ID: HPO:0002240
Synonyms:
Enlarged liver [HPO:0002240]
Large liver (disorder) [Orphanet:29480]
Hepatomegaly [Orphanet:29480]
Hepatomegaly [OMIM:Hepatomegaly]
Hepatomegaly/liver enlargement (excluding storage disease) [Orphanet:29480]
Hepatomegaly [MedDRA:10019842]
Liver enlargement [MedDRA:10019842]
Hepatomegaly (1 patient) [OMIM:Hepatomegaly (1 patient)]
Hepatomegaly (43%) [OMIM:Hepatomegaly (43%)]
Hepatomegaly (harderoporphyria) [OMIM:Hepatomegaly (harderoporphyria)]
Hepatomegaly (in 1 patient) [OMIM:Hepatomegaly (in 1 patient)]
Hepatomegaly (in some patients) [OMIM:Hepatomegaly (in some patients)]
Hepatomegaly (in some) [OMIM:Hepatomegaly (in some)]
Hepatomegaly (less common) [OMIM:Hepatomegaly (less common)]
Hepatomegaly (type II, all subtypes) [OMIM:Hepatomegaly (type II, all subtypes)]
Hepatomegaly (variable) [OMIM:Hepatomegaly (variable)]
Large liver [OMIM:Large liver]
Quality:
Cross references:
Orphanet:29480 "Hepatomegaly/liver enlargement (excluding storage disease)" [Orphanet:29480]
OMIM: "Hepatomegaly" [OMIM:Hepatomegaly]
OMIM: "Hepatomegaly (1 patient)" [OMIM:Hepatomegaly (1 patient)]
OMIM: "Hepatomegaly (43%)" [OMIM:Hepatomegaly (43%)]
OMIM: "Hepatomegaly (harderoporphyria)" [OMIM:Hepatomegaly (harderoporphyria)]
OMIM: "Hepatomegaly (in 1 patient)" [OMIM:Hepatomegaly (in 1 patient)]
OMIM: "Hepatomegaly (in some patients)" [OMIM:Hepatomegaly (in some patients)]
OMIM: "Hepatomegaly (in some)" [OMIM:Hepatomegaly (in some)]
OMIM: "Hepatomegaly (less common)" [OMIM:Hepatomegaly (less common)]
OMIM: "Hepatomegaly (type II, all subtypes)" [OMIM:Hepatomegaly (type II, all subtypes)]
OMIM: "Hepatomegaly (variable)" [OMIM:Hepatomegaly (variable)]
OMIM: "Large liver" [OMIM:Large liver]
UMLS:C0019209 "Hepatomegaly" [HPO:0002240]
UMLS:C0019209 "Hepatomegaly" [Orphanet:29480]
Is a (Direct Parents):
HPO         Abnormality of the liver
MedDRA Hepatobiliary signs and symptoms
Orphanet Decreased liver function
HPO         Visceromegaly
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)
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)