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Displaying diseases 41 - 50 of 652 in total
Adenylosuccinate lyase deficiency  (103050 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Succinyladenosine (HMDB0000912) Urine101-188 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Adenosine (HMDB0000050) Urine6.3-7.2 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Deoxyadenosine (HMDB0000101) Urine2-7.2 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Succinyladenosine (HMDB0000912) Urine96.6-281.9 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency  (201810 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Androstenedione (HMDB0000053) Blood0.00279-0.00454 uMAbnormalAdult (>18 years old)Female details
Dehydroepiandrosterone (HMDB0000077) Blood0.0184-0.0333 uMAbnormalAdult (>18 years old)Female details
Testosterone (HMDB0000234) Blood0.00243 uMAbnormalAdult (>18 years old)Female details
Liothyronine (HMDB0000265) Blood0.00169 uMAbnormalAdult (>18 years old)Female details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.0186 uMAbnormalAdult (>18 years old)Female details
17-Hydroxyprogesterone (HMDB0000374) Blood0.000908 uMAbnormalAdult (>18 years old)Female details
Dehydroepiandrosterone sulfate (HMDB0001032) Blood5.493 uMAbnormalAdult (>18 years old)Female details
Progesterone (HMDB0001830) Blood0.00223 uMAbnormalAdult (>18 years old)Female details
Estradiol (HMDB0000151) Blood0.000099 uMAbnormalAdult (>18 years old)Female details
Cortisol (HMDB0000063) Blood0.152 uMAbnormalAdult (>18 years old)Female details
Thyroxine (HMDB0000248) Blood0.0953 uMAbnormalAdult (>18 years old)Female details
Androstenedione (HMDB0000053) Blood0.00137 +/- 0.000800 uMAbnormalNewborn (0-30 days old)Not Specified details
Dehydroepiandrosterone (HMDB0000077) Blood0.0103 +/- 0.0100 uMAbnormalNewborn (0-30 days old)Not Specified details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.0126 +/- 0.0105 uMAbnormalNewborn (0-30 days old)Not Specified details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00294 +/- 0.000900 uMAbnormalNewborn (0-30 days old)Not Specified details
Cortisol (HMDB0000063) Blood0.300 +/- 0.200 uMAbnormalNewborn (0-30 days old)Not Specified details
Androstenedione (HMDB0000053) Blood0.000810 +/- 0.00140 uMAbnormalChildren (1-13 years old)Not Specified details
Dehydroepiandrosterone (HMDB0000077) Blood0.00520 +/- 0.00740 uMAbnormalChildren (1-13 years old)Not Specified details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00440 +/- 0.00280 uMAbnormalChildren (1-13 years old)Not Specified details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00170 +/- 0.00190 uMAbnormalChildren (1-13 years old)Not Specified details
Cortisol (HMDB0000063) Blood0.400 +/- 0.200 uMAbnormalChildren (1-13 years old)Not Specified details
Androstenedione (HMDB0000053) Blood0.0017 uMAbnormalAdult (>18 years old)Male details
Androstenedione (HMDB0000053) Blood0.0041 uMAbnormalAdolescent (13-18 years old)Male details
Dehydroepiandrosterone (HMDB0000077) Blood0.052 uMAbnormalAdult (>18 years old)Male details
Dehydroepiandrosterone (HMDB0000077) Blood0.653 uMAbnormalAdolescent (13-18 years old)Male details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.159 uMAbnormalAdult (>18 years old)Male details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.741 uMAbnormalAdolescent (13-18 years old)Male details
17-Hydroxyprogesterone (HMDB0000374) Blood0.0057 uMAbnormalAdult (>18 years old)Male details
17-Hydroxyprogesterone (HMDB0000374) Blood0.009 uMAbnormalAdolescent (13-18 years old)Male details
Cortisol (HMDB0000063) Blood0.07 uMAbnormalAdult (>18 years old)Male details
Cortisol (HMDB0000063) Blood0.12 uMAbnormalAdolescent (13-18 years old)Male details
Cortisol (HMDB0000063) Blood0.290-0.390 uMAbnormalNewborn (0-30 days old)Both details
Androstenedione (HMDB0000053) Blood0.00175-0.0770 uMAbnormalNewborn (0-30 days old)Both details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00740-0.296 uMAbnormalNewborn (0-30 days old)Both details
Cortisol (HMDB0000063) Blood0.280-0.480 uMAbnormalChildren (1-13 years old)Both details
Androstenedione (HMDB0000053) Blood0.000270-0.0480 uMAbnormalChildren (1-13 years old)Both details
Dehydroepiandrosterone (HMDB0000077) Blood0.00157-0.385 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.0264-0.103 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.0843-1.262 uMAbnormalNewborn (0-30 days old)Both details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00450-0.184 uMAbnormalChildren (1-13 years old)Both details
Dehydroepiandrosterone (HMDB0000077) Blood0.0226-0.407 uMAbnormalNewborn (0-30 days old)Both details
Androstenedione (HMDB0000053) Blood0.000570 +/- 0.000200 uMAbnormalChildren (1-13 years old)Both details
Androstenedione (HMDB0000053) Blood0.00103 +/- 0.00100 uMAbnormalInfant (0-1 year old)Not Specified details
Androstenedione (HMDB0000053) Blood0.00380 +/- 0.00100 uMAbnormalAdult (>18 years old)Male details
Androstenedione (HMDB0000053) Blood0.00430 +/- 0.00180 uMAbnormalAdult (>18 years old)Female details
Dehydroepiandrosterone (HMDB0000077) Blood0.00150 +/- 0.00120 uMAbnormalChildren (1-13 years old)Both details
Dehydroepiandrosterone (HMDB0000077) Blood0.0120 +/- 0.00700 uMAbnormalAdult (>18 years old)Male details
Dehydroepiandrosterone (HMDB0000077) Blood0.0140 +/- 0.00700 uMAbnormalAdult (>18 years old)Female details
Dehydroepiandrosterone (HMDB0000077) Blood0.00800 +/- 0.0100 uMAbnormalInfant (0-1 year old)Not Specified details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00230 +/- 0.00200 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00300 +/- 0.00250 uMAbnormalAdult (>18 years old)Female details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00380 +/- 0.00210 uMAbnormalAdult (>18 years old)Male details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00896 +/- 0.00770 uMAbnormalInfant (0-1 year old)Not Specified details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00178 +/- 0.00144 uMAbnormalInfant (0-1 year old)Not Specified details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00189 +/- 0.00100 uMAbnormalChildren (1-13 years old)Both details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00240 +/- 0.00220 uMAbnormalAdult (>18 years old)Female details
17-Hydroxyprogesterone (HMDB0000374) Blood0.00330 +/- 0.00180 uMAbnormalAdult (>18 years old)Male details
Cortisol (HMDB0000063) Blood0.360 +/- 0.100 uMAbnormalAdult (>18 years old)Male details
Cortisol (HMDB0000063) Blood0.230 +/- 0.120 uMAbnormalInfant (0-1 year old)Not Specified details
Cortisol (HMDB0000063) Blood0.300 +/- 0.120 uMAbnormalChildren (1-13 years old)Both details
Cortisol (HMDB0000063) Blood0.360 +/- 0.120 uMAbnormalAdult (>18 years old)Female details
Calcidiol (HMDB0003550) Blood0.0549 +/- 0.0225 uMAbnormalChildren (1-13 years old)Both details
D-Glucose (HMDB0000122) Blood4812.499 +/- 288.639 uMAbnormalChildren (1-13 years old)Both details
3-Hydroxybutyric acid (HMDB0000357) Blood130 +/- 80 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.136 +/- 0.129 uMAbnormalChildren (1-13 years old)Both details
Calcidiol (HMDB0003550) Blood0.0449 +/- 0.00749 uMAbnormalChildren (1-13 years old)Both details
D-Glucose (HMDB0000122) Blood5112.239 +/- 427.408 uMAbnormalChildren (1-13 years old)Both details
3-Hydroxybutyric acid (HMDB0000357) Blood300 +/- 390 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00439 +/- 0.00896 uMAbnormalChildren (1-13 years old)Both details
Calcidiol (HMDB0003550) Blood0.0599 +/- 0.0200 uMAbnormalChildren (1-13 years old)Both details
D-Glucose (HMDB0000122) Blood4235.221 +/- 55.507 uMAbnormalChildren (1-13 years old)Both details
3-Hydroxybutyric acid (HMDB0000357) Blood300 +/- 200 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.176 +/- 0.186 uMAbnormalChildren (1-13 years old)Both details
D-Glucose (HMDB0000122) Blood4390.642 +/- 316.393 uMAbnormalChildren (1-13 years old)Both details
3-Hydroxybutyric acid (HMDB0000357) Blood250 +/- 160 uMAbnormalChildren (1-13 years old)Both details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.0111 +/- 0.0219 uMAbnormalChildren (1-13 years old)Both details
Dehydroepiandrosterone (HMDB0000077) Blood0.0448 +/- 0.0655 uMAbnormalChildren (1-13 years old)Both details
Testosterone (HMDB0000234) Blood0.00933 uMAbnormalChildren (1-13 years old)Both details
Estradiol (HMDB0000151) Blood0.000062 +/- 0.0000844 uMAbnormalChildren (1-13 years old)Both details
Dehydroepiandrosterone (HMDB0000077) Blood0.00246 +/- 0.00350 uMAbnormalChildren (1-13 years old)Both details
Testosterone (HMDB0000234) Blood0.00184 uMAbnormalChildren (1-13 years old)Both details
Estradiol (HMDB0000151) Blood0.0000294 +/- 0.000088 uMAbnormalChildren (1-13 years old)Both details
Chloride ion (HMDB0000492) Blood96000 uMAbnormalNewborn (0-30 days old)Male details
Potassium (HMDB0000586) Blood6900 uMAbnormalNewborn (0-30 days old)Male details
Sodium (HMDB0000588) Blood120000 uMAbnormalNewborn (0-30 days old)Male details
Androstenedione (HMDB0000053) Blood0.000698-0.0583 uMAbnormalNewborn (0-30 days old)Male details
Testosterone (HMDB0000234) Blood0.000624-0.0156 uMAbnormalNewborn (0-30 days old)Male details
17-Hydroxyprogesterone (HMDB0000374) Blood0.0832-0.339 uMAbnormalNewborn (0-30 days old)Male details
Progesterone (HMDB0001830) Blood0.00191-0.115 uMAbnormalNewborn (0-30 days old)Male details
Cortisol (HMDB0000063) Blood0.0124-0.455 uMAbnormalNewborn (0-30 days old)Male details
Dehydroepiandrosterone sulfate (HMDB0001032) Blood42.0638-105.0238 uMAbnormalNewborn (0-30 days old)Male details
Adrenal hypoplasia  (300200 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Cortisol (HMDB0000063) Blood0.001 (0.0-0.002) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete  (613743 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
D-Glucose (HMDB0000122) Blood333.0449 uMAbnormalNewborn (0-30 days old)Female details
D-Glucose (HMDB0000122) Blood555.0748 uMAbnormalNewborn (0-30 days old)Female details
Potassium (HMDB0000586) Blood6100 uMAbnormalNewborn (0-30 days old)Female details
Potassium (HMDB0000586) Blood7100 uMAbnormalNewborn (0-30 days old)Female details
Sodium (HMDB0000588) Blood121000 uMAbnormalNewborn (0-30 days old)Female details
Sodium (HMDB0000588) Blood125000 uMAbnormalNewborn (0-30 days old)Female details
Aldosterone (HMDB0000037) Blood0.000128 uMAbnormalNewborn (0-30 days old)Female details
Androstenedione (HMDB0000053) Blood0.000873 uMAbnormalNewborn (0-30 days old)Female details
Dehydroepiandrosterone (HMDB0000077) Blood0.00101 uMAbnormalNewborn (0-30 days old)Female details
Dehydroepiandrosterone (HMDB0000077) Blood0.0042 uMAbnormalNewborn (0-30 days old)Female details
Testosterone (HMDB0000234) Blood<0.000104 uMAbnormalNewborn (0-30 days old)Female details
Pregnenolone (HMDB0000253) Blood0.00401 uMAbnormalNewborn (0-30 days old)Female details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.000271 uMAbnormalNewborn (0-30 days old)Female details
17a-Hydroxypregnenolone (HMDB0000363) Blood0.00123 uMAbnormalNewborn (0-30 days old)Female details
17-Hydroxyprogesterone (HMDB0000374) Blood<0.000605 uMAbnormalNewborn (0-30 days old)Female details
Progesterone (HMDB0001830) Blood<0.000318 uMAbnormalNewborn (0-30 days old)Female details
Dihydrotestosterone (HMDB0002961) Blood<0.00006.89 uMAbnormalNewborn (0-30 days old)Female details
Cortisol (HMDB0000063) Blood0.235 uMAbnormalNewborn (0-30 days old)Female details
Cortisol (HMDB0000063) Blood<0.0276 uMAbnormalNewborn (0-30 days old)Female details
Adrenoleukodystrophy  (300100 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Pipecolic acid (HMDB0000716) Blood65.0 +/- 63.0 uMAbnormalNewborn (0-30 days old)Both details
Trihydroxycoprostanoic acid (HMDB0002163) Blood10.9 +/- 14.6 uMAbnormalNewborn (0-30 days old)Both details
Phytanic acid (HMDB0000801) Blood72.0 (64.0-80.0) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Pipecolic acid (HMDB0000070) Blood<3.871 uMAbnormalChildren (1-13 years old)Not Specified details
Phytanic acid (HMDB0000801) Blood3.200-15.998 uMAbnormalChildren (1-13 years old)Not Specified details
Hexacosanoic acid (HMDB0002356) Blood2.571-4.512 uMAbnormalAdult (>18 years old)Female details
Hexacosanoic acid (HMDB0002356) Blood2.26 uMAbnormalChildren (1-13 years old)Not Specified details
Pipecolic acid (HMDB0000070) Urine3.3 (1.5-5.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Pipecolic acid (HMDB0000070) Urine49.4 (8.4-90.4) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Adrenoleukodystrophy, neonatal
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Hexacosanoic acid (HMDB0002356) Blood0.993 (0.252-1.622) uMAbnormalNewborn (0-30 days old)Both
  • MetaGene: Metabol...
details
Pristanic acid (HMDB0000795) Blood1.5 (0.0-3.0) uMAbnormalNewborn (0-30 days old)Both
  • MetaGene: Metabol...
details
Adrenomyeloneuropathy  (300100 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Hexacosanoic acid (HMDB0002356) Blood4.10 (2.42 - 6.43) uMAbnormalAdult (>18 years old)Both details
Erucic acid (HMDB0002068) Blood150.0 (125.0-160.0) uMAbnormalAdult (>18 years old)Both details
AIDS
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Cysteine (HMDB0000574) Blood13.0 (10.0-16.0) uMAbnormalAdult (>18 years old)Both details
Neopterin (HMDB0000845) Blood0.0347 +/- 0.0250 uMAbnormalChildren (1-13 years old)Both details
D-Xylose (HMDB0000098) Blood2817.8 +/- 904.4 uMAbnormalAdult (>18 years old)Not Specified details
D-Xylose (HMDB0000098) Blood2684.6 +/- 913.8 uMAbnormalAdult (>18 years old)Not Specified details
5-Methyltetrahydrofolic acid (HMDB0001396) Cerebrospinal Fluid (CSF)0.026 +/- 0.007 uMAbnormalChildren (1-13 years old)Not Specified details
Mannitol (HMDB0000765) Cerebrospinal Fluid (CSF)48.9 (8.24-144) uMAbnormalAdult (>18 years old)Both details
Quinolinic acid (HMDB0000232) Cerebrospinal Fluid (CSF)3.78 +/- 0.88 uMAbnormalAdult (>18 years old)Not Specified details
Leukotriene C4 (HMDB0001198) Cerebrospinal Fluid (CSF)0.000557 uMAbnormalNot SpecifiedNot Specified details
Butyric acid (HMDB0000039) Urine0.18 +/- 0.044 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Alcoholism
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Acetaldehyde (HMDB0000990) Blood4.1 +/- 1.7 uMAbnormalAdult (>18 years old)Both details
5a-Pregnane-3,20-dione (HMDB0003759) Blood0.042 +/- 0.025 uMAbnormalAdult (>18 years old)Both details
Allopregnanolone (HMDB0001449) Blood0.001 +/- 0.00028 uMAbnormalAdult (>18 years old)Both details
Progesterone (HMDB0001830) Blood0.0025 +/- 0.0017 uMAbnormalAdult (>18 years old)Both details
Dihydrotestosterone (HMDB0002961) Blood0.0054 +/- 0.0029 uMAbnormalAdult (>18 years old)Both details
Tetrahydrodeoxycorticosterone (HMDB0000879) Blood0.0056 +/- 0.0023 uMAbnormalAdult (>18 years old)Both details
Ethanol (HMDB0000108) Blood45393.0 (18027.0-74063.0) uMAbnormalAdult (>18 years old)Both details
Methanol (HMDB0001875) Blood1548.0 (624.0-5557.0) uMAbnormalAdult (>18 years old)Both details
Isopropyl alcohol (HMDB0000863) Blood536.0 (66.0-1648.0) uMAbnormalAdult (>18 years old)Both details
Butanone (HMDB0000474) Blood682.0 (69.0-1998.0) uMAbnormalAdult (>18 years old)Both details
2-Butanol (HMDB0011469) Blood313.0 (54.0-863.0) uMAbnormalAdult (>18 years old)Both details
Acetone (HMDB0001659) Blood1520.0 (206.6-5285.0) uMAbnormalAdult (>18 years old)Both details
Ethanol (HMDB0000108) Blood40615.0 +/- 17158.0 uMAbnormalAdult (>18 years old)Male details
Methanol (HMDB0001875) Blood227.9 +/- 112.4 uMAbnormalAdult (>18 years old)Both details
7a-Hydroxy-cholestene-3-one (HMDB0001993) Blood0.16 (0.09-0.25) uMAbnormalAdult (>18 years old)Both details
Nicotinic acid (HMDB0001488) Cerebrospinal Fluid (CSF)12.2 +/- 0.3 uMAbnormalAdult (>18 years old)Not Specified details
Nicotinic acid (HMDB0001488) Cerebrospinal Fluid (CSF)6.5 +/- 0.1 uMAbnormalAdult (>18 years old)Both details
Pantothenic acid (HMDB0000210) Cerebrospinal Fluid (CSF)0.96 +/- 0.47 uMAbnormalAdult (>18 years old)Not Specified details
Pantothenic acid (HMDB0000210) Cerebrospinal Fluid (CSF)0.80 +/- 0.08 uMAbnormalAdult (>18 years old)Not Specified details
Riboflavin (HMDB0000244) Cerebrospinal Fluid (CSF)0.18 +/- 0.02 uMAbnormalAdult (>18 years old)Not Specified details
Riboflavin (HMDB0000244) Cerebrospinal Fluid (CSF)0.14 +/- 0.06 uMAbnormalAdult (>18 years old)Not Specified details
Thiamine (HMDB0000235) Cerebrospinal Fluid (CSF)0.02 +/- 0.00 uMAbnormalAdult (>18 years old)Not Specified details
Thiamine (HMDB0000235) Cerebrospinal Fluid (CSF)0.01 +/- 0.00 uMAbnormalAdult (>18 years old)Not Specified details
scyllo-Inositol (HMDB0006088) Cerebrospinal Fluid (CSF)72.5 +/- 55.0 uMAbnormalAdult (>18 years old)Both details
Ethanol (HMDB0000108) Urine3543.6 +/- 1414.6 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Methanol (HMDB0001875) Urine15427.0 +/- 10168.0 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Aldehyde dehydrogenase deficiency
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Acetaldehyde (HMDB0000990) Blood30.4 +/- 20.3 uMAbnormalAdult (>18 years old)Both details
Displaying diseases 41 - 50 of 652 in total