OMIM QUERY RESULTS
OMIM IRX Query: (hepatomegaly)[cs]
1. 100050 AARSKOG SYNDROME [SHAWL SCROTUM, INCLUDED; HYPERTELORISM,
INCLUDED]
2. #105200 AMYLOIDOSIS, FAMILIAL VISCERAL [AMYLOIDOSIS VIII; OSTERTAG
TYPE AMYLOIDOSIS; GERMAN TYPE AMYLOIDOSIS; AMYLOIDOSIS, FAMILIAL
RENAL; AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC]
3. *130650 BECKWITH-WIEDEMANN SYNDROME [BWS; EMG SYNDROME;
EXOMPHALOS- MACROGLOSSIA-GIGANTISM SYNDROME; WIEDEMANN-BECKWITH
SYNDROME; WBS; BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION,
INCLUDED; BWCR, INCLUDED]
4. *135500 FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS,
FINGERNAILS, NOSE AND EARS, AND SPLENOMEGALY [LABAND SYNDROME]
5. *170993 PEROXISOMAL ASSEMBLY FACTOR-1 [PAF1; PEROXISOMAL MEMBRANE
+ PROTEIN 35K; PMP35; PXMP3; ZELLWEGER SYNDROME-3, INCLUDED; ZWS3,
+ INCLUDED; ZELLWEGER SYNDROME, COMPLEMENTATION GROUP F, INCLUDED;
+ ZELLWEGER SYNDROME, COMPLEMENTATION GROUP 5, INCLUDED] + +
6. *170995 PEROXISOMAL MEMBRANE PROTEIN 70K [PMP70; PEROXISOMAL
MEMBRANE + PROTEIN 1; PXMP1; ZELLWEGER SYNDROME-2, INCLUDED; ZWS2,
INCLUDED] + +
7. *170998 PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR [PPAR] + +
8. *176300 PREALBUMIN, THYROXINE-BINDING [TBPA; PALB; TRANSTHYRETIN;
TTR; DYSPREALBUMINEMIC EUTHYROIDAL HYPERTHYROXINEMIA, INCLUDED;
HYPERTHYROXINEMIA, DYSPREALBUMINEMIC, INCLUDED; HYPERTHYROXINEMIA,
+ DYSTRANSTHYRETINEMIC, INCLUDED; AMYLOID POLYNEUROPATHY, MULTIPLE
+ FORMS, INCLUDED; SENILE SYSTEMIC AMYLOIDOSIS, INCLUDED]
9. *212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY + +
10. *212140 CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL
REABSORPTION OF CARNITINE [PRIMARY CARNITINE DEFICIENCY;
CARNITINE DEFICIENCY DUE TO DEFECT IN CARNITINE UPTAKE; CARNITINE
TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF]
11. *214100 CEREBROHEPATORENAL SYNDROME [CHR SYNDROME; ZELLWEGER
SYNDROME; ZS; ZWS; ZWS1]
12. *214110 CEREBROHEPATORENAL SYNDROME, VARIANT TYPES [ZELLWEGER
SYNDROME, VARIANT TYPES]
13. *226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES
MELLITUS [MED-IDDM SYNDROME; IDDM-MED SYNDROME; WOLCOTT-RALLISON
SYNDROME]
14. *228000 FARBER LIPOGRANULOMATOSIS [CERAMIDASE DEFICIENCY; N-
LAURYLSPHINGOSINE DEACYLASE DEFICIENCY]
15. *229600 FRUCTOSE INTOLERANCE, HEREDITARY [FRUCTOSEMIA; FRUCTOSE-1-
PHOSPHATE ALDOLASE DEFICIENCY; FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE
B DEFICIENCY; ALDOLASE B DEFICIENCY; ALDB DEFICIENCY; ALDOLASE-2,
INCLUDED; ALDOB, INCLUDED]
16. *229700 FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY [FRUCTOSE-1,6-
BISPHOSPHATASE DEFICIENCY; FBP]
17. *230350 GALACTOSE EPIMERASE DEFICIENCY [GALE DEFICIENCY; GALE,
INCLUDED; GALACTOSEMIA III; UDP-GALACTOSE-4-EPIMERASE DEFICIENCY]
18. *230400 GALACTOSEMIA [GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE
DEFICIENCY; GALT DEFICIENCY; GALACTOSE-1-PHOSPHATE
URIDYLTRANSFERASE, INCLUDED; GALT, INCLUDED]
19. *230500 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
[BETA-GALACTOSIDASE-1 DEFICIENCY; GLB1 DEFICIENCY; MORQUIO
DISEASE, TYPE B, INCLUDED]
20. #230900 GAUCHER DISEASE, TYPE II [GD II; GAUCHER DISEASE,
INFANTILE CEREBRAL; GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE]
21. #231000 GAUCHER DISEASE, TYPE III [GD III; GAUCHER DISEASE,
JUVENILE AND ADULT, CEREBRAL; GAUCHER DISEASE, CHRONIC
NEURONOPATHIC TYPE; GAUCHER DISEASE, SUBACUTE NEURONOPATHIC FORM;
NORRBOTTNIAN GAUCHER DISEASE, INCLUDED]
22. *231050 GELEOPHYSIC DWARFISM
23. *231675 GLUTARICACIDURIA IIC [GA IIC; GLUTARICACIDEMIA IIC;
ELECTRON + TRANSFER FLAVOPROTEIN DEHYDROGENASE, DEFICIENCY OF;
ELECTRON TRANSFER + FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE,
DEFICIENCY OF; ETF + DEHYDROGENASE DEFICIENCY; ETFDH; ETFQO] + +
24. *231680 GLUTARICACIDURIA IIA [GA IIA; GLUTARICACIDEMIA IIA;
ETHYLMALONIC-ADIPICACIDURIA; EMA; MULTIPLE ACYL-CoA DEHYDROGENASE
DEFICIENCY; MADD; ELECTRON TRANSFER FLAVOPROTEIN, ALPHA
POLYPEPTIDE, - DEFICIENCY OF; ETFA, DEFICIENCY OF]
25. *232200 GLYCOGEN STORAGE DISEASE I [GSD-I; VON GIERKE DISEASE;
HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE;
GLUCOSE-6-PHOSPHATASE DEFICIENCY; GLUCOSE-6-PHOSPHATASE, INCLUDED;
G6PT, INCLUDED; + HEPATORENAL GLYCOGENOSIS; GLYCOGEN STORAGE
DISEASE Ia]
26. *232220 GLYCOGEN STORAGE DISEASE Ib [GLUCOSE-6-PHOSPHATE TRANSPORT
DEFECT; GLUCOSE-6-PHOSPHATE TRANSLOCASE, INCLUDED]
27. 232240 GLYCOGEN STORAGE DISEASE Ic
28. *232400 GLYCOGEN STORAGE DISEASE III [FORBES DISEASE; CORI
DISEASE; LIMIT DEXTRINOSIS; DEBRANCHER DEFICIENCY;
AMYLO-1,6-GLUCOSIDASE DEFICIENCY; AGL DEFICIENCY; AGL, INCLUDED;
GLYCOGEN DEBRANCHER ENZYME, INCLUDED; GDE, INCLUDED]
29. *232700 GLYCOGEN STORAGE DISEASE VI [HERS DISEASE; PHOSPHORYLASE
DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER; GLYCOGEN
PHOSPHORYLASE, LIVER, INCLUDED; PYGL; PPYL]
30. *235200 HEMOCHROMATOSIS [HFE]
31. *237500 HYPERBILIRUBINEMIA II [DUBIN-JOHNSON SYNDROME; DJS]
32. #239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY [NSPH; NSHPT]
33. 239400 HYPERPIPECOLATEMIA
34. 242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND
DEAFNESS [KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, RECESSIVE FORM;
DESMONS SYNDROME]
35. *243300 INTRAHEPATIC CHOLESTASIS [CHOLESTASIS, BENIGN RECURRENT
INTRAHEPATIC; BRIC; SUMMERSKILL SYNDROME]
36. *243500 ISOVALERICACIDEMIA [IVA; ISOVALERIC ACID CoA DEHYDROGENASE
DEFICIENCY; IVD DEFICIENCY; ISOVALERYL CoA DEHYDROGENASE,
INCLUDED; IVD, INCLUDED]
37. *246450 LEUCINE METABOLISM, DEFECT IN [3-@HYDROXY-3-METHYLGLUTARYL
CoA LYASE DEFICIENCY; HMG-CoA LYASE DEFICIENCY; HL DEFICIENCY;
HYDROXYMETHYLGLUTARICACIDURIA; HMGCL, INCLUDED]
38. *249000 MECKEL SYNDROME [DYSENCEPHALIA SPLANCHNOCYSTICA; GRUBER
SYNDROME; MECKEL-GRUBER SYNDROME]
39. 251900 MITOCHONDRIAL MYOPATHY
40. *252500 MUCOLIPIDOSIS II [ML2; ML II; I-CELL DISEASE; ICD; N-
ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE DEFICIENCY; GNPTA]
41. *252600 MUCOLIPIDOSIS III [ML III; ML3; PSEUDO-HURLER
POLYDYSTROPHY]
42. *252800 MUCOPOLYSACCHARIDOSIS TYPE I [MPS I; ALPHA-L-IDURONIDASE
DEFICIENCY; IDA DEFICIENCY; IDUA DEFICIENCY; HURLER SYNDROME,
INCLUDED; SCHEIE SYNDROME, INCLUDED; HURLER/SCHEIE PHENOTYPE,
INCLUDED]
43. *252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA [MPS IIIA; SANFILIPPO
SYNDROME A; HEPARAN SULFATE SULFATASE DEFICIENCY]
44. *252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB [MPS IIIB; SANFILIPPO
SYNDROME B; N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY; N-ACETYL-
ALPHA-D-GLUCOSAMINIDASE POLYMORPHISM, INCLUDED; NAG POLYMORPHISM,
INCLUDED]
45. *252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC [MPS IIIC; SANFILIPPO
SYNDROME C; ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE
DEFICIENCY]
46. *253000 MUCOPOLYSACCHARIDOSIS TYPE IVA [MPS IVA; MORQUIO SYNDROME
A; GALACTOSAMINE-6-SULFATASE DEFICIENCY; GALNS]
47. #253010 MUCOPOLYSACCHARIDOSIS TYPE IVB [MPS IVB; MORQUIO SYNDROME
B; BETA-GALACTOSIDASE DEFICIENCY; MORQUIO SYNDROME]
48. *253200 MUCOPOLYSACCHARIDOSIS TYPE VI [MPS VI; MAROTEAUX-LAMY
SYNDROME; ARYLSULFATASE B DEFICIENCY; ARSB DEFICIENCY; N-
ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY; ARSB, INCLUDED]
49. *253220 MUCOPOLYSACCHARIDOSIS TYPE VII [MPS VII; SLY SYNDROME;
BETA- GLUCURONIDASE DEFICIENCY; GUSB DEFICIENCY; GUSB, INCLUDED]
50. 260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX
Total Hits: 50
Your query produced more than 50 results.
_________________________________________________________________
GDB-OMIM