Abnormal circulating nicotinurate concentration


Increased circulating nicotinurate level


Abnormal blood 5-methyltetrahydrofolate level


Reduced blood 5-methyltetrahydrofolate level


Hypoplasia of maxilla relative to mandible


Hypoplasia of mandible relative to maxilla


Increased anti-dairy protein IgE antibody level


Increased anti-animal protein IgE antibody level


Increased anti-seafood IgE antibody level


Increased anti-dust mite IgE antibody level


Increased anti-bacteria IgE antibody level


Increased anti-feather IgE antibody level


Increased anti-food allergen IgE antibody level


Increased anti-plant based food allergen IgE antibody level


Increased anti-gluten IgE antibody level


Increased anti-nut food product IgE antibody level


Increased anti-meat allergen IgE antibody level


Increased anti-parasite IgE antibody level


Increased anti-insect IgE antibody level


Increased anti-plant product IgE antibody level


Increased anti-animal dander IgE antibody level


Increased anti-house dust mite IgE antibody level


Increased anti-alpha-gal IgE antibody level


Cyclic neutropenia in myeloid maturation arrest in bone marrow


Abnormal circulating amylase concentration


Decreased specific antibody response to protein vaccine


Complete or near-complete absence of specific antibody response to tetanus vaccine


Complete or near-complete absence of specific antibody response to hepatitis B vaccine


Partial absence of specific antibody response to tetanus vaccine


Partial absence of specific antibody response to hepatitis B vaccine


Decreased specific antibody response to polysaccharide vaccine


Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine


Partial absence of specific antibody response to unconjugated pneumococcus vaccine


Decreased specific antibody response to protein-conjugated polysaccharide vaccine


Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


Complete or near-complete absence of specific antibody response to meningococcus vaccine


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


Partial absence of specific antibody response to meningococcus vaccine


Decreased specific antibody response to infection


Abnormality of neutrophil morphology in CSF


Hyposegmentation of neutrophil nuclei in CSF


Hypersegmentation of neutrophil nuclei in CSF


Abnormal urinary 1-methylhistidine concentration


Abnormal urinary 3-methylhistidine level


Focal epithelial hyperplasia of oral mucosa


Abnormal circulating heparan sulfate level


Increased circulating heparan sulfate level


Decreased circulating heparan sulfate level


Shortened O-fucosylated glycan on properdin


Increased urinary galactosylated oligosaccharide


Increased urinary high-mannose-type oligosaccharide


Increased urinary multiantennary sialylated oligosaccharide


Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level


Increased urinary fucosylated oligosaccharide


Decreased O-mannosyl glycans on alpha-dystroglycan


Increased monosialylated core 1 O-glycan level


Decreased monosialylated core 1 O-glycan level


Increased disialylated core 1 O-glycan level


Increased hepatitis A virus antibody level


Increased hepatitis B virus antibody level


Increased hepatitis C virus antibody level


Abnormal proportion of naive CD4 T cells


Abnormal proportion of naive CD8 T cells


Increased proportion of naive CD4 T cells


Increased proportion of naive CD8 T cells


Decreased proportion of naive CD8 T cells


Decreased proportion of naive CD4 T cells


Abnormal proportion of CD4-positive, alpha-beta memory T cells


Abnormal proportion of CD8-positive, alpha-beta memory T cells


Abnormal proportion of central memory CD4-positive, alpha-beta T cells


obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells


Abnormal proportion of effector memory CD8-positive, alpha-beta T cells


Abnormal proportion of central memory CD8-positive, alpha-beta T cells


Decreased proportion of CD8-positive, alpha-beta memory T cells


Decreased proportion of CD4-positive, alpha-beta memory T cells


obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells


Decreased proportion of central memory CD4-positive, alpha-beta T cells


Decreased proportion of central memory CD8-positive, alpha-beta T cells


Decreased proportion of effector memory CD8-positive, alpha-beta T cells


Increased proportion of CD4-positive, alpha-beta memory T cells


Increased proportion of CD8-positive, alpha-beta memory T cells


Increased proportion of central memory CD4-positive, alpha-beta T cells


Increased proportion of effector memory CD4-positive, alpha-beta T cells


Increased proportion of effector memory CD8-positive, alpha-beta T cells


Increased proportion of central memory CD8-positive, alpha-beta T cells


Incomplete ossification of palatine bone


Abnormality of musculature of soft palate


Abnormal morphology of musculature of pharynx


Abnormality of tensor veli palatini muscle


Abnormality of muscle of facial expression


Abnormality of levator labii superioris alaeque nasi muscle


Abnormal common carotid artery morphology


obsolete Abnormality of the shape of the midface


Dysplastic gangliocytoma of the cerebellum


Abnormal gonadotropin-releasing hormone concentration


Lack of gonadotropin-releasing hormone pulsatility


Abnormal resting energy expenditure from metabolic cart test


Reduced brain gamma-aminobutyric acid level by MRS


Abnormal circulating dehydroepiandrosterone concentration


Aplasia of the musculature of the pelvis


Hypoplasia of the musculature of the pelvis


Abnormal natural killer subset distribution


Nasolacrimal sac epithelial papillary carcinoma


Delayed canalization of nasolacrimal duct


Abnormal stool urobilinogen concentration


Increased stool urobilinogen concentration


Decreased circulating hydroxyproline concentration


Abnormal circulating glutamate concentration


Abnormal circulating asparagine concentration


Abnormal circulating aspartic acid concentration


Increased circulating aspartic acid concentration


Abnormal circulating carnosine concentration


Abnormal circulating gastrin concentration


Abnormal concentration of acylcarnitine in the urine


Abnormal circulating amino sulfonic acid concentration


Abnormal CSF carboxylic acid concentration


Abnormal CSF branched chain amino acid concentration


Abnormal CSF glutamine family amino acid concentration


Abnormal CSF aspartate family amino acid concentration


Abnormal CSF aromatic amino acid concentration


Abnormal CSF phenylalanine concentration


Increased CSF phenylalanine concentration


Decreased CSF phenylalanine concentration


Abnormal CSF serine family amino acid concentration


Abnormal CSF pyruvate family amino acid concentration


Abnormal CSF homocarnosine concentration


Increased CSF homocarnosine concentration


Abnormal CSF alpha-aminobutyrate concentration


Increased CSF alpha-aminobutyrate concentration


Abnormal circulating ethanolamine concentration


Increased circulating ethanolamine concentration


Abnormal urine sebacic acid concentration


Increased urine sebacic acid concentration


Increased level of gamma-aminobutyric acid in urine


Abnormal urine hexanoylglycine concentration


Increased level of hexanoylglycine in urine


Abnormal urine isobutyrylglycine concentration


Increased urine isobutyrylglycine concentration


Abnormal carbon dioxide level in cord blood


Increased proportion of CD8-positive, alpha-beta TEMRA T cells


Decreased proportion of CD8-positive, alpha-beta TEMRA T cells


Abnormal proportion of CD4-positive helper T cells


Abnormal proportion of gamma-delta T cells


Increased proportion of gamma-delta T cells


Decreased proportion of gamma-delta T cells


Abnormal proportion of immature gamma-delta T cells


Increased proportion of immature gamma-delta T cells


Decreased proportion of immature gamma-delta T cells


Abnormal inner ear epithelium morphology


Abnormality of cartilage of external ear


obsolete Abnormality of common carotid artery plus branches


Abnormality of depressor anguli oris muscle


Abnormality of depressor labii inferioris


Abnormal morphology of bony orbit of skull


Abnormality of anterior ethmoidal artery


Abnormal nasopharyngeal adenoid morphology


Abnormality nasal septum cartilage morphology


Abnormality of frontal process of maxilla


Abnormal glossopharyngeal nerve morphology


Abnormal great auricular nerve morphology


Abnormal greater palatine artery morphology


Abnormal inferior alveolar artery morphology


Abnormality of inferior oblique extraocular muscle


Abnormality of inferior rectus extraocular muscle


Abnormal inferior thyroid vein morphology


Abnormal internal carotid artery morphology


Abnormality of intrinsic muscle of tongue


Abnormal lateral cricoarytenoid muscle morphology


Abnormality of lateral rectus extra-ocular muscle


Abnormal levator palpebrae superioris morphology


Abnormality of levator veli palatini muscle


Abnormal mandible condylar process morphology


Abnormal mandible coronoid process morphology


Abnormal mandibular symphysis morphology


Abnormal cardiac magnetic resonance imaging finding


Formation of multiple pronuclei during fertilization


Impaired renal tubular reabsorption of bicarbonate


Reduced proportion of mucosal-associated invariant T cells


Abnormal pulmonary alveolar system development


Persistent preoccupation with parts of objects or unusual objects


Use of another person's body to communicate


Fixated interest with abnormal intensity


Abnormal communicative facial expressions


Facial expressions that do not match the context


Elevated circulating thymine concentration


Ameliorated by oral zinc supplementation


Abnormal four chamber view of the fetal heart


Triggered by poison ivy, poson oak, or sumac


Aggravated by sodium channel blocking agents


Triggered by angiotensin-converting enzyme inhibitor


Decreased Succinyl-CoA 3-ketoacid CoA transferase activity


Decreased phytanoyl-CoA hydroxylase activity


Decreased circulating plasmalogen concentration


Post-vaccination varicella zoster virus infection


Anti-platelet antigen antibody positivity


Anti-voltage-gated potassium channel antibody positivity


History of previous pregnancy with hydrops fetalis


Abnormal erythrocyte adenosine triphosphate concentration


Reduced erythrocyte adenosine triphosphate concentration


Elevated erythrocyte adenosine triphosphate concentration


Anti-Kelch like protein 11 antibody positivity


Abnormal movements of the upper extremities


Diminished integration of verbal and non-verbal communicative behavior


Resistance to trivial environmental changes


Lack of nonverbal response to verbal cues


Sensory hyposensitivity unexplained by sensory deficit


Incomplete cleft maxillary alveolar ridge