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Displaying diseases 161 - 170 of 652 in total
Combined oxidative phosphorylation deficiency 11  (614922 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Lactic acid (HMDB0000190) Blood3200 uMAbnormalNewborn (0-30 days old)Male details
L-Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)5900 uMAbnormalNewborn (0-30 days old)Male details
Combined oxidative phosphorylation deficiency 12  (614924 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Lactic acid (HMDB0000190) Blood6500 uMAbnormalInfant (0-1 year old)Male details
Combined oxidative phosphorylation deficiency 14  (614946 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Lactic acid (HMDB0000190) Blood4300 uMAbnormalInfant (0-1 year old)Female details
L-Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)7200 uMAbnormalInfant (0-1 year old)Female details
Congenital Adrenal Hyperplasia, due to 17-Hydroxylase-Deficiency  (202110 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Aldosterone (HMDB0000037) Blood0.000011 uMAbnormalAdolescent (13-18 years old)Female details
Testosterone (HMDB0000234) Blood<0.000693 uMAbnormalAdolescent (13-18 years old)Female details
Estradiol (HMDB0000151) Blood<0.0000734 uMAbnormalAdolescent (13-18 years old)Female details
Cortisol (HMDB0000063) Blood0.0806 uMAbnormalAdolescent (13-18 years old)Female details
Potassium (HMDB0000586) Blood2800 uMAbnormalAdolescent (13-18 years old)Female details
Deoxycorticosterone (HMDB0000016) Blood0.00118 uMAbnormalAdult (>18 years old)Female details
Estradiol (HMDB0000151) Blood0.000055 uMAbnormalAdolescent (13-18 years old)Female details
Estradiol (HMDB0000151) Blood0.000114 uMAbnormalAdult (>18 years old)Female details
Cortisol (HMDB0000063) Blood0.0469 uMAbnormalAdult (>18 years old)Female details
Dehydroepiandrosterone sulfate (HMDB0001032) Blood0.0621 uMAbnormalAdult (>18 years old)Female details
Dehydroepiandrosterone sulfate (HMDB0001032) Blood0.104 uMAbnormalAdolescent (13-18 years old)Female details
Congenital Adrenal Hyperplasia, due to 21-Hydroxylase-Deficiency  (201910 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
21-Deoxycortisol (HMDB0004030) Blood0.048 (0.014 - 0.320) uMAbnormalNewborn (0-30 days old)Not Specified details
Androstenedione (HMDB0000053) Blood0.517 uMAbnormalInfant (0-1 year old)Both details
17-Hydroxyprogesterone (HMDB0000374) Blood1.522 uMAbnormalInfant (0-1 year old)Both details
16-a-Hydroxypregnenolone (HMDB0000315) UrineNot AvailableAbnormalNewborn (0-30 days old)Not Available details
Congenital cataracts, hearing loss, and neurodegeneration  (614482 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Copper (HMDB0000657) Blood4.878-11.645 uMAbnormalInfant (0-1 year old)Male details
Congenital chloride diarrhea  (214700 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Chloride ion (HMDB0000492) Blood69900 (53000-88000) uMAbnormalChildren (1-13 years old)Both details
Potassium (HMDB0000586) Blood1800-2800 uMAbnormalInfant (0-1 year old)Both details
Potassium (HMDB0000586) Blood2900 (2500-4000) uMAbnormalChildren (1-13 years old)Both details
Sodium (HMDB0000588) Blood129000 (125000-132000) uMAbnormalChildren (1-13 years old)Both details
Hydrogen carbonate (HMDB0000595) Blood30000-43000 uMAbnormalInfant (0-1 year old)Both details
Aldosterone (HMDB0000037) Blood0.000145-0.00499 uMAbnormalInfant (0-1 year old)Both details
congenital disorder of glycosylation CDG-Ia  (212065 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Uric acid (HMDB0000289) Blood0.000420-0.000440 uMAbnormalInfant (0-1 year old)Both details
Congenital secretory diarrhea  (270420 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Chloride ion (HMDB0000492) Blood108000-115000 uMAbnormalInfant (0-1 year old)Both details
Potassium (HMDB0000586) Blood4800-5800 uMAbnormalInfant (0-1 year old)Both details
Sodium (HMDB0000588) Blood118000-123000 uMAbnormalInfant (0-1 year old)Both details
Hydrogen carbonate (HMDB0000595) Blood9700-16600 uMAbnormalInfant (0-1 year old)Both details
Chloride ion (HMDB0000492) Urine2200-3970 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Congestive heart failure
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Deoxypyridinoline (HMDB0000569) Urine0.019 +/- 0.0026 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Pyridinoline (HMDB0000851) Urine0.075 +/- 0.012 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Displaying diseases 161 - 170 of 652 in total