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Hormonal, Nutritional, Metabolic, and Immune Disorders A
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Hormonal, Nutritional, Metabolic, and Immune Disorders A
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Hormonal, Nutritional, Metabolic, and Immune Disorders
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Hormonal, Nutritional, Metabolic, and Immune Disorders A
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Disease and Condition Index for Hormonal, Nutritional, Metabolic, and Immune Disorders A
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Name
Category
1-alpha-25-hydroxyvitamin D3 deficiency, selective
1-alpha-hydroxylase deficiency
17-alpha-hydroxylase deficiency
1A vitamin D hydroxylation-deficient rickets, Type
1A vitamin D-dependent rickets, Type
1A, familial hyperreninemic hypoaldosteronism
2-aminoadipic 2-oxoadipic aciduria
2A vitamin D-dependent rickets, Type
2A, premature ovarian failure
A-I deficiency, apolipoprotein
AA amyloidosis
AAT deficiency
abetalipoproteinemia
ABL
abnormal glycogen, familial cirrhosis with deposition of
abnormal pyruvate metabolism, intermittent ataxia with
abnormalities, congenital familial protracted diarrhea with enterocyte brush-border
abscess, pituitary
abscess, thymus
abscess, thyroid
absorptive hypercalciuria 1
absorptive hypercalciuria 2
AC deficiency
acanthocytosis
aceruloplasminemia
acetoacetyl-CoA thiolase deficiency, mitochondrial
ACH
acid alpha-glucosidase deficiency
acid beta-glucosidase deficiency
acid ceramidase deficiency
acid maltase deficiency
acid-base balance disorder, fluid or electrolyte or
acid-base disorder
acidemia and homocystinuria, cblC-type methylmalonic
acidemia and homocystinuria, cblD-type methylmalonic
acidemia and homocystinuria, cblF-type methylmalonic
acidemia, 2-methyl-3-hydroxybutyric
acidemia, acute neonatal isovaleric
acidemia, cblA-type methylmalonic
acidemia, cblB-type methylmalonic
acidemia, chronic isovaleric
acidemia, isovaleric
acidemia, methylmalonic
acidemia, propionic
acidemia, Type I glutaric
acidemia, Type II glutaric
acidosis
acidosis I, ataxia with lactic
acidosis II, ataxia with lactic
acidosis, acute respiratory
acidosis, chronic respiratory
acidosis, diabetic
acidosis, high-anion-gap metabolic
acidosis, hyperchloremic
acidosis, hyperchloremic metabolic
acidosis, hyperkalemic normal-anion-gap metabolic
acidosis, hypokalemic normal-anion-gap metabolic
acidosis, lactic
acidosis, metabolic
acidosis, normal-anion-gap metabolic
acidosis, respiratory
aciduria and homocystinura, cblD-type methylmalonic
aciduria and homocystinuria, cblC-type methylmalonic
aciduria and homocystinuria, cblC-type vitamin B12-responsive methylmalonic
aciduria and homocystinuria, cblF-type methylmalonic
aciduria I, orotic
aciduria, 2-aminoadipic 2-oxoadipic
aciduria, 3-Hydroxy-3-methylglutaric
aciduria, 3-methylglutaconic
aciduria, alpha-aminoadipic
aciduria, alpha-methylacetoacetic
aciduria, argininosuccinic
aciduria, BAIB
aciduria, beta-aminoisobutyric
aciduria, cblA-type methylmalonic
aciduria, cblA-type vitamin B12-responsive methylmalonic
aciduria, cblB-type methylmalonic
aciduria, cblB-type vitamin B12-responsive methylmalonic
aciduria, early-onset argininosuccinic
aciduria, ethylmalonic-adipic
aciduria, glyceric
aciduria, glycolic
aciduria, hereditary orotic
aciduria, homogentisic
aciduria, hydroxymethylglutaric
aciduria, hyper-beta-aminoisobutyric
aciduria, late-onset argininosuccinic
aciduria, malignant arginosucinic
aciduria, methylmalonic
aciduria, mut-type methylmalonic
aciduria, neonatal acute arginosuccinic
aciduria, orotic
aciduria, Type I glutaric
aciduria, Type II glutaric
acquired adrenal insensitivity
acquired agammaglobunlinemia
acquired hypocalciuric hypercalcemia
acquired hypogammaglobulinemia
acquired tumoral calcinosis
acromegaloid gigantism, total lipodystrophy and
acromegaly
ACTH deficiency
ACTH syndrome, ectopic
ACTH-dependent hyperaldosteronism syndrome
active rickets
acute adrenal cortical insufficiency
acute adrenal crisis
acute adrenal insufficiency
acute arginosuccinic aciduria, neonatal
acute hepatic porphyria
acute infantile neuropathic Gaucher disease
acute inflammation
acute inflammatory disease
acute intermittent porphyria
acute neonatal isovaleric acidemia
acute neuronopathic Gaucher disease
acute neuropathic Gaucher's disease
acute porphyria
acute regulatory protein deficiency, steroid
acute respiratory acidosis
acute respiratory alkalosis
acute thyroiditis
acyl CoA dehydrogenase deficiency, multiple
acyl-CoA dehydrogenase deficiency, medium chain
acyl-CoA dehydrogenase deficiency, very long chain
acyltransferase deficiency, alpha-lecithin:cholesterol
acyltransferase deficiency, lecithin-cholesterol
ADA deficiency, partial
ADA-SCID
ADA-SCID, early-onset
ADA-SCID, late-onset
Addison's disease
Addison's disease, autoimmune
Addison's disease, idiopathic
Addison's disease, X-linked
Addison's melanoderma
Addison's syndrome
Addisonian crisis
addisonii, melasma
adenomatous goiter
adenomatous goiter with hyperthyroidism
adenomatous goiter, toxic
adenomatous hyperplasia, hyperinsulinemic hypoglycemia due to focal
adenosine deaminase deficiency
adenosine-deaminase-deficiency severe combined immunodeficiency
adenosine-deaminase-deficiency severe combined immunodeficiency, late-onset
adenosyltransferase deficiency, methionine
ADH secretion, ectopic
ADH syndrome, inappropriate
ADHR
adiposogenital dystrophy
adipsia
adolescent nephropathic cystinosis
ADP
adrenache, female premature
adrenal aplasia
adrenal coritcal hyperplasia, micronodular
adrenal cortical hyperfunction, glucocorticoid-excess
adrenal cortical hyperfunction, mineralocorticoid-excess
adrenal cortical hyperplasia
adrenal cortical hyperplasia, macronodular
adrenal cortical hypofunction
adrenal cortical hypofunction, primary
adrenal cortical hypofunction, secondary
adrenal cortical insufficiency
adrenal cortical insufficiency, acute
adrenal cortical insufficiency, chronic
adrenal cortical insufficiency, primary
adrenal crisis
adrenal crisis, acute
adrenal deficiency, primary
adrenal feminization
adrenal hemorrhage
adrenal hyperandrogenism
adrenal hyperplasia
adrenal hyperplasia 1, congenital
adrenal hyperplasia I
adrenal hyperplasia II
adrenal hyperplasia III
adrenal hyperplasia IV
adrenal hyperplasia V
adrenal hyperplasia, childhood-onset congenital
adrenal hyperplasia, classical congenital
adrenal hyperplasia, congenital
adrenal hyperplasia, hypertensive
adrenal hyperplasia, lipoid congenital
adrenal hyperplasia, nonclassical
adrenal hypoplasia
adrenal hypoplasia iwth hypogonadotropic hypogonadism, congenital
adrenal hypoplasia, congenital
adrenal infarction
adrenal insensitivity, acquired
adrenal insufficiency, acute
adrenal insufficiency, drug-induced
adrenal insufficiency, primary
adrenal insufficiency, secondary
adrenal medullary hyperfunction
adrenal medullary hyperplasia
adrenal medullary hypofunction
adrenal medullary insufficiency
adrenal virilization
adrenalitis, autoimmune
adrenocortical hypoplasia, cytomegalic
adrenocortical insufficiency, chronic
adrenocorticotropic cell hyperplasia
adrenocorticotropic hormone deficiency
adrenogenital disorder
adrenoleukodystrophy
adrenoleukodystrophy, X-linked
adrenomyeloneuropathy
adult cerebral Gaucher disease
adult hypophosphatasia
adult lactase deficiency
adult nonnephropathic cystinosis
adult persistent hyperinsulinemic hypoglycemia
adult Pompe disease
adult Pompe's disease
adult sialic acid storage disease
adult thyroid hormone resistance
adult-onset agammaglobulinemia
adult-onset alpha-N-acetylgalactosaminidase deficiency
adult-onset autosomal dominant striopallidodentate calcinosis
adult-onset bilateral striopallidodentate calcinosi
adult-onset diabetes mellitus
adult-onset GnRH deficiency
adult-onset gonadotropin releasing hormone deficiency
adult-onset growth hormone deficiency
adult-onset idiopathic hypogonadotropic hypogonadism
adult-onset idiopathic nonarteriosclerotic cerebral calcification
adult-onset NAGA deficiency
adult-onset Type II citrullinemia
adult-type hypolactasia
adult-type lactose intolerance
African iron overload
AGA deficiency
agammaglobulinemia
agammaglobulinemia and isolated growth hormone deficiency, X-linked
agammaglobulinemia, adult-onset
agammaglobulinemia, autosomal
agammaglobulinemia, Bruton's-type
agammaglobulinemia, congenital X-linked
agammaglobulinemia, non-Bruton-type
agammaglobulinemia, Type 1 X-linked
agammaglobulinemia, X-linked
agammaglobunlinemia, acquired
age-associated hypogonadism
AGL deficiency
AGMX1
AGPAT2-related Brunzell syndrome
AGT deficiency, hepatic
AGU
AHCH
AHX
AIP
AIS
AL amyloidosis
alactasia, hereditary
alactasia, primary
ALAD deficiency
ALAD porphyria
ALADH deficiency
alanine-glyoxylate aminotransferase deficiency
alanine:glyoxylate aminotransferase deficiency, peroxisomal
albinism
Albright hereditary osteodystrophy
alcaptonuria
alcoholic ketoacidosis
ALD
ALDB deficiency
aldehyde oxidase and sulfite oxidase deficiency, xanthine dehydrogenase and
aldehyde oxidase deficiency, xanthine dehydrogenase and
aldolase B deficiency
aldolase B deficiency, fructose
aldolase B deficiency, fructose biphosphate
aldolase deficiency, fructose-1-phosphate
aldosterone deficiency I
aldosterone deficiency II
aldosterone resistance
aldosteronism, dexamethaxone-sensitive
aldosteronism, glucocorticoid-remediable
aldosteronism, primary
aldosteronism, secondary
Aldrich syndrome
aleukia, congenital
aleukocytosis
alkalosis
alkalosis, acute respiratory
alkalosis, chloride-resistant metabolic
alkalosis, chloride-responsive metabolic
alkalosis, chronic respiratory
alkalosis, hypochloremic
alkalosis, hypochloremic metabolic
alkalosis, metabolic
alkalosis, respiratory
alkaptonuria
alkaptonuria, hereditary
alkaptonuric ochronosis
allergy, milk
alpha B mannosidosis, lysosomal
alpha heavy chain disease
alpha-1-4-glucosidase deficiency
alpha-1-antitrypsin deficiency
alpha-aminoadipic aciduria
alpha-aminoadipic semialdehyde synthase deficiency
alpha-D-mannosidase deficiency, lysosomal
alpha-galactosidase A deficiency
alpha-galactosidase B deficiency
alpha-glucosidase deficiency, acid
alpha-keto dehydrogenase complex deficiency, branched-chain
alpha-L-fucosidase deficiency
alpha-L-iduronidase deficiency
alpha-LCAT deficiency
alpha-lecithin:cholesterol acyltransferase deficiency
alpha-mannosidase B deficiency
alpha-mannosidosis
alpha-mannosidosis, Type I
alpha-mannosidosis, Type II
alpha-methylacetoacetic aciduria
alpha-N-acetylgalactosaminidase deficiency, adult-onset
alpha-N-acetylgalactosaminidase deficiency, Type I
alpha-N-acetylgalactosaminidase deficiency, Type II
alpha-N-acetylgalactosaminidase deficiency, Type III
alpha-neuraminidase deficiency
alphalipoprotein deficiency, familial
ALPS
alymphocytosis, pure
American PC deficiency, North
American pyruvate decarboxylase deficiency, North
amidohydrolase deficiency, N-acylsphingosine
amino acid metabolism disturbance, branched-chain
amino acid transport, disturbances of
amino-acid metabolism disorder
amino-acid metabolism disorder, sulfur-bearing
aminoaciduria I, dibasic
aminoaciduria II, dibasic
aminoaciduria, dicarboxylic
aminoaciduria, hyperdibasic
aminoaciduria, Type I dibasic
aminoaciduria, Type II dibasic
aminoaciduria, unspecified, dibasic
aminolevulinate dehydratase deficiency porphyria
aminotransferase deficiency, alanine-glyoxylate
aminotransferase deficiency, ornithine
aminotransferase deficiency, ornithine keto-acid
aminotransferase deficiency, peroxisomal alanine:glyoxylate
aminotransferase deficiency, serine:pyruvate
aminotransferase deficiency, tyrosine
ammonia-lyase deficiency, histidine
AMN
AMOXAD
amylo-1-6-glucosidase deficiency
amyloid polyneuropathy, familial
amyloidosis
amyloidosis VIII
amyloidosis, AA
amyloidosis, AL
amyloidosis, ATTR
amyloidosis, beta-2-microglobulin-associated
amyloidosis, beta-2m
amyloidosis, dialysis-related
amyloidosis, familial renal
amyloidosis, familial visceral
amyloidosis, German type
amyloidosis, immunoglobulin light chain
amyloidosis, inflammatory
amyloidosis, nephropathic
amyloidosis, Ostertag type
amyloidosis, primary
amyloidosis, primary systemic
amyloidosis, secondary
amyloidosis, systemic
amyloidosis, systemic nonneuropathic
amyloidosis, transthyretin
amyloidosis, transthyretin-related hereditary
amylopectinosis
analbuminemia
anapolipoproteinemia, C-II
Andersen disease
Anderson disease
Anderson-Fabry disease
androgen insensitivity syndrome
androgen receptor deficiency
androgen resistance
andropause
anemia, cblE-type homocystinuria and megaloblastic
anemia, cblG-type homocystinuria and megaloblastic
anendocrinosis, enteric
angioedema, hereditary
angiokeratoma corporis diffusum universale
angioneurotic edema, hereditary
anhaptoglobinemia
anhydrase deficiency, carbonic
anhydrase I deficiency, carbonic
anhydrase II deficiency, carbonic
anosmia, hypogonadotripic hypogonadism and
anosmic hypogonadism
antenatal Bartter syndrome
antenatal Bartter syndrome, Type I
antenatal Bartter syndrome, Type II
anterior pituitary hypofunction
antidiuretic hormone secretion, ectopic
antidiuretic hormone, inappropriate secretion of
antidiuretic hormone, syndrome of inappropriate secretion of
APECED
aplasia, adrenal
aplasia, Nezelof's thymic
APOA1 deficiency
APOC2 deficiency
apolipoprotein A-I deficiency
apolipoprotein B deficiency
apolipoprotein B-100, familial defective
apolipoprotein B-100, familial ligand-defective
apolipoprotein C-II deficiency
apolipoprotein C-III deficiency
apolipoprotein E deficiency
APS I
APS II
APS1
APS2
AR deficiency
ARG1 deficiency
arginase deficiency, liver
arginase deficiency, Type I
argininemia
argininosuccinase deficiency
argininosuccinate lyase deficiency
argininosuccinate synthase deficiency
argininosuccinic acid lyase deficiency
argininosuccinic aciduria
argininosuccinic aciduria, early-onset
argininosuccinic aciduria, late-onset
arginosuccinate synthetase deficiency
arginosuccinic aciduria, neonatal acute
arginosucinic aciduria, malignant
Arias-type hyperbilirubinemia
ARSB deficiency
arteriolopathy, calcific uremic
arthritis, ochronotic
arylsulfatase B deficiency
ASA deficiency
ASAL deficiency
ASAS deficiency
ascorbic acid deficiency
ASL deficiency
aspartylglucosaminidase deficiency
aspartylglucosaminuria
aspartylglycosaminuria
ASS deficiency
associated with PPARG mutations, familial partial lipodystrophy
asthenia pigmentosa
asymptomatic monoclonal gammopathy
ataxia with abnormal pyruvate metabolism, intermittent
ataxia with lactic acidosis I
ataxia with lactic acidosis II
ataxia with selective vitamin E deficiency, Friedreich-like
ateleiotic dwarfism, sexual
ateliotic dwarfism with hypogonadism
athyrotic cretinism
atransferrinemia
atrophy and deafness, diabetes insipidus and mellitus with optic
atrophy of choroid and retina, hyperornithinemia with gyrate
atrophy, congenital microvillous
atrophy, gyrate
ATTR amyloidosis
atypical phenylketonuria
autoimmune Addison's disease
autoimmune adrenalitis
autoimmune disease
autoimmune disorder
autoimmune failure syndrome, reproductive
autoimmune lymphoproliferative syndrome
autoimmune polyendocrine syndrome, Type I
autoimmune polyendocrine syndrome, Type II
autoimmune polyendocrine syndrome, Type III
autoimmune polyendocrinopathy syndrome, Type I autosomal dominant
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
autoimmune polyglandular syndrome, Type I
autoimmune syndrome, Type I polyglandular
autoimmune syndrome, Type II polyendocrine
autoimmune syndrome, Type II polyglandular
autoimmune thyroid disease
autoimmune thyroiditis
autosomal agammaglobulinemia
autosomal dominant autoimmune polyendocrinopathy syndrome, Type I
autosomal dominant GRTH
autosomal dominant GTHR
autosomal dominant hemochromatosis
autosomal dominant hypercholesterolemia
autosomal dominant hypercholesterolemia, heterozygous
autosomal dominant hypercholesterolemia, homozygous
autosomal dominant hypercholesterolemia, Type B
autosomal dominant hypophosphatemia
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated growth hormone deficiency
autosomal dominant PHA I
autosomal dominant striopallidodentate calcinosis, adult-onset
autosomal dominant thyroid hormone resistance, generalized
autosomal dominant thyroid hormone unresponsiveness
autosomal dominant Type I pseudohypoaldosteronism
autosomal dominant vitamin D-resistant rickets
autosomal recessive complement component 3 deficiency
autosomal recessive dopa-responsive dystonia
autosomal recessive GRTH
autosomal recessive GTHR
autosomal recessive hyper-IgM immunodeficiency
autosomal recessive infantile parkinsonism
autosomal recessive isolated growth hormone deficiency
autosomal recessive osteopetrosis 3
autosomal recessive PHA I
autosomal recessive SCID with ionizing radiation sensitivity, T- B- NK+
autosomal recessive SCID, T- B+ NK+
autosomal recessive SCID, T- B+ NK-
autosomal recessive Segawa syndrome
autosomal recessive severe combined immunodeficiency with ionizing radiation sensitivity, T- B- NK+
autosomal recessive severe combined immunodeficiency, T- B+ NK+
autosomal recessive severe combined immunodeficiency, T- B+ NK-
autosomal recessive thyroid hormone resistance, generalized
autosomal recessive thyroid hormone unresponsiveness
autosomal recessive Type I pseudohypoaldosteronism
autosomal recessive Wolfram-like syndrome
avitaminosis D