- Terms
- Semantic type
- Acquired Abnormality
- Amino Acid, Peptide, or Protein
- Anatomical Abnormality
- Body Part, Organ, or Organ Component
- Body substance
- Cell Function
- Cell Or Molecular Dysfunction
- Clinical Attribute
- Congenital Abnormality
- Albers-Schonberg disease

- Albinism

- Albinism, Ocular
- Allanson Pantzar McLeod syndrome
- Anhidrotic ectodermal dysplasia
- Anhydrotic Ectodermal Dysplasias
- Anophthalmia
- Anterior chamber anomalies
- Aplasia/Hypoplasia of the thymus
- Atrial septal defects

- Bat ear
- Blepharophimosis

- Bloch-Sulzberger syndrome

- Blue sclera
- Bullous Congenital Ichthyosiform Erythroderma

- Byzanthine arch palate
- Central cataracts
- Choanal atresia

- Cleft lip
- Cleft palate
- Cleft uvula
- Coloboma of choroid
- Congenital absence of spleen
- Congenital alopecia

- Congenital anomaly of face
- Congenital anomaly of rib
- Congenital Camptodactyly
- Congenital Cerebellar Hypoplasia
- Congenital clubfoot
- Congenital coxa vara

- Congenital ichthyosis

- Congenital lamellar ichthyosis
- Congenital macroglossia
- Congenital Nonbullous Ichthyosiform Erythroderma

- Congenital omphalocele

- Congenital Skin Disorder

- Craniosynostosis

- Cryptorchidism
- Cryptorchidism, bilateral
- Double outlet right ventricle

- Duodenal atresia
- Dwarfism

- Dysmorphic features
- Ectopia lentis
- Esophageal atresia

- Genitourinary tract anomalies
- Gonadal failure

- Hereditary thrombocytopenia

- Hip dysplasia
- Hirschsprung disease

- Horseshoe kidney
- Hypodontia
- Hypoplasia of muscle
- Hypospadias

- Ichthyosis linearis circumflexa

- Inborn errors of metabolism

- Keratoderma
- Long narrow head
- Low set ears
- Macrocephaly
- Microcephaly
- Microdontia
- Micrognathism
- Microphthalmos
- Myelodysplasia

- Ocular albinism, tyrosinase-positive
- Orbital separation excessive
- Osteochondrodysplasia

- Parathyroid hypoplasia
- Patent ductus arteriosus
- Peg-shaped teeth

- Penis agenesis
- Polydactyly
- Polydactyly preaxial type 1
- Posterior embryotoxon
- Posteriorly rotated ears
- Prominent ear
- Radioulnar synostosis

- Retrognathism
- Right aortic arch (disorder)
- Roger's disease
- Spina bifida occulta
- Spondyloepiphyseal dysplasia, congenita

- Spondylometaphyseal dysplasia

- Syndactyly

- Tetralogy of Fallot
- Thymus hypoplasia
- Truncus Arteriosus, Persistent

- Unilateral agenesis of kidney
- Ventricular Septal Defects

- Albers-Schonberg disease
- Disease or Syndrome
- 3-Methylglutaconic aciduria
- 3-Methylglutaconic aciduria type 2
- AA amyloidosis
- Abdominal abscess
- Abdominal tuberculosis
- Abnormality of the musculoskeletal system
- Abscess of limb
- Abscess of peritoneum
- Accommodative esotropia
- Acne
- Acquired hypogammaglobulinemia
- Acute gastroenteritis
- Acute necrotizing encephalitis
- Acute respiratory distress
- Addison Disease
- Adenosine Deaminase Deficiency
- Adenoviral enteritis
- Adrenal gland hypofunction
- Adrenoleukodystrophy
- Afibrinogenemia
- Agammaglobulinemia
- Agranulocytosis

- Albers-Schonberg disease

- Alopecia areata
- Amblyopia
- Amenorrhea
- Amyloid nephropathy
- Amyloidosis
- Anemia
- Anemia hemolytic
- Anemia pernicious
- Anemia, macrocytic
- Anemia, Megaloblastic
- Angioedemas, Hereditary
- Anhidrosis
- Ankylosing spondylitis
- Aphthous Stomatitis
- Aplastic anemia
- Arteriosclerosis
- Arthritis
- Arthritis of knee
- Arthritis, Bacterial
- Arthritis, Gouty
- Arthritis, Juvenile rheumatoid
- Aseptic meningitis
- Aseptic peritonitis
- Aspergillus infections
- Asthma
- Astigmatism
- Asymmetrical growth retardation
- Ataphylococcal scalded skin syndrome
- Atherosclerosis
- Atrial septal defects

- Atrophy of testis
- Atrophy of thymus gland
- Autoimmune Disease
- Autoimmune enteropathy
- Autoimmune hemolytic anemia
- Autoimmune hepatitis
- Autoimmune neutropenia
- Autoimmune thyroiditis
- Azoospermia
- Bacteremia
- Bacterial pneumonia
- Band-shaped keratopathy
- BCG related lymphadenitis
- Behcet syndrome
- Bilateral fetal pyelectasis
- Bilateral uveitis
- Blepharitis
- Blepharophimosis

- Blind vision
- Bloch-Sulzberger syndrome

- Blood Coagulation Disorders
- Bone marrow failure
- Brain Abscess
- Brain edema
- Bronchiectasis
- Bronchiolitis
- Bronchiolitis Obliterans
- Bronchitis
- Bronchopneumonia
- Bronchopulmonary Dysplasia
- Bullous Congenital Ichthyosiform Erythroderma

- C1 esterase inhibitor deficiency
- C3 deficiency
- C5 deficiency
- Calcification of basal ganglia
- Calcium oxalate nephrolithiasis
- Campylobacter jejuni infection
- Candida Esophagitis
- Candidal meningitis
- Candidiasis
- Candidiasis of nails
- Candidiasis, Vulvovaginal
- Carbuncle
- Cardiac defects
- Cardiomyopathies
- Cardiomyopathy
- Cardiomyopathy, Dilated
- Cataract

- Cellulitis
- Cerebellar atrophy
- Cerebellar vermis atrophy
- Cerebral Infarction
- Cervical dysplasia
- Cervical lymphadenitis
- Chest infections
- Chickenpox
- Choanal atresia

- Cholangitis
- Cholelithiasis
- Choreoathetosis
- Cholestatic liver disease
- Chronic anemia
- Chronic atrophic gastritis
- Chronic dermatitis
- Chronic Eczema
- Chronic enteritis
- Chronic epididymitis
- Chronic furunculosis
- Chronic granulomata
- Chronic headaches
- Chronic lung disease
- Chronic meningitis
- Chronic mucocutaneous candidiasis
- Chronic neutropenia
- Chronic Obstructive Airway Disease
- Chronic oral candidiasis
- Chronic otitis media
- Chronic pansinusitis
- Chronic prostatitis
- Chronic serous otitis media
- Chronic sinusitis
- Chronic ulcer of lower extremity
- Cirrhosis
- Clastothrix
- Cleft palate with cleft lip
- Colitis
- Coma
- Common wart
- Conductive hearing loss
- Congenital alopecia

- Congenital Combined Immunodeficiency
- Congenital exfoliative erythroderma
- Congenital hypoplastic anemia
- Congenital ichthyosis

- Congenital Nonbullous Ichthyosiform Erythroderma

- Congenital omphalocele

- Congenital Skin Disorder

- Congenital T-Cell Immunodeficiency
- Congestive Heart Failure
- Conjunctival telangiectasis
- Conjunctivitis
- Constitutional aplastic anemia
- Convulsions
- Cortical atrophy
- Coxa magna
- Cranial nerve diseases
- Cranial nerve palsies
- Craniosynostosis

- Crohn disease
- Cryptosporidiosis
- Cyclic Neutropenia
- Cystic acne
- Cytomegaloviral Retinitis
- Cytomegalovirus infection
- Cytomegalovirus pneumonia
- Deafness
- Deficiency of Humoral Immunity
- Deficiency of mevalonate kinase
- Dehydration
- Dementia
- Dental caries
- Dermatitis
- Dermatitis, Atopic
- Dermatitis, Phototoxic
- Dermatomyositis
- Dermatophytosis
- Diabetes mellitus
- Diabetes Mellitus, Insulin-Dependent
- Diarrhea bloody
- Diffuse mesangial sclerosis (disorder)
- Diffuse panbronchiolitis
- Diffuse Scleroderma
- Disseminated cutaneous herpes simplex infection
- Disseminated intravascular coagulation
- Disseminated Mycobacterium kansasii infection
- Divergent Strabismus
- Dnamel hypoplasia
- Double outlet right ventricle

- Dwarfism

- Dysgammaglobulinemia
- Dyskinesias
- Dystonia
- Dystrophia unguium
- Ear Inflammation
- Eczema
- Eczema;perioral
- Empyema
- Encephalitis
- Encephalopathies
- Endophthalmitis
- Enterocolitis
- Enterovirus Infections
- Epididymitis
- Epilepsies, Partial
- Epilepsy
- Episcleritides
- Epstein-Barr virus infection
- Erysipelas
- Erythema marginatum
- Erythroderma
- Escherichia coli infections
- Esophageal atresia

- Esophageal Necrotic Lesion
- Esophoria
- Exanthema
- Exfoliative dermatitis
- Exocrine pancreatic insufficiency
- Facial eczematous dermatitis
- Facial edema
- Facial paralysis
- Failure to thrive
- Familial aplasia of the vermis
- Familial Mediterranean fever
- Fatal infectious mononucleosis associated with X-linked lymphoproliferative syndrome
- Favism
- Febrile Convulsions
- Femoral osteitis
- Flat chest
- Fluid overload
- Focal segmental glomerulosclerosis
- Folic acid deficiency
- Folliculitis
- Food allergy
- Fulminant hepatitis
- Furuncle
- Furunculosis
- Gastric ulcer

- Gastroenteritis
- Gastrointestinal Diseases
- Gastrointestinal infection
- Generalized eczema
- Generalized hypopigmentation
- Generalized pustular psoriasis
- Generalized seborrheic dermatitis
- Generalized vitiligo
- Giardiasis
- Gingivitis
- Glaucoma
- Glomerulonephritis
- Gram-Positive Bacterial Infections
- Granuloma Annulare
- Granulomatous Disease, Chronic
- GRISCELLI SYNDROME, TYPE 1

- Group A streptococcal pneumonia
- Growth failure
- Guillain-Barre syndrome
- Haemophilus influenzae infection
- Haemophilus influenzae meningitis
- Haemophilus influenzae pneumonia
- Hashimoto Disease
- Hay fever
- Hearing impairment
- Heart failure
- Hemipareses
- Hemolytic-uremic syndrome
- Hemophagocytic lymphohistiocytosis
- Hemophagocytic syndrome
- Hemophagocytosis
- Hemorrhagic varicella pneumonitis
- Henoch-Schonlein purpura
- Hepatic amyloidosis
- Hepatic encephalopathy
- Hepatic Vein Thrombosis
- Hepatic veno-occlusive disease
- Hepatitis
- Hepatitis B
- Hepatitis C
- Hereditary thrombocytopenia

- Herpes encephalitis
- Herpes Simplex Infections
- Herpes zoster disease
- Herpetic meningoencephalitis
- Hidradenitis suppurativa
- Hip osteoarthritis
- Hirschsprung disease

- Histoplasmosis
- Human papillomavirus infection
- Hydrocephalus
- Hydronephrosis
- Hypercholesterolemia
- Hypereosinophilia
- Hyperkeratosis

- Hypertensive disease
- Hyperthyroidism
- Hypertrichosis

- Hypertrophy of tonsils
- Hypochromic anemia
- Hypofibrinogenemia
- Hypogammaglobulinemia
- Hypoglycemia
- Hypogonadism
- Hypogonadotropic hypogonadism
- Hypohidrosis
- Hypoparathyroidism
- Hypopigmentation of the skin
- Hypospadias

- Hyposplenism
- Hypothyroidism
- Ichthyosis linearis circumflexa

- Idiopathic CD4+ T-lymphocytopenia
- IGA Glomerulonephritis
- Ileus
- Immunodeficiency
- Immunodeficiency;humoral
- Immunoglobulin G4 deficiency
- Impaired glucose tolerance
- Impetigo
- Inborn errors of metabolism

- Increased sensitivity to ionizing radiation
- Infectious Lung Disorder
- infectious mononucleosis
- Inflammation of scrotum
- Inflammatory bowel diseases
- Inflammatory skin disease
- Influenza with encephalopathy
- Inguinal hernia

- Intestinal Diseases
- Intracranial hypertension
- Iritis
- Iron deficiency anemia
- Iron deficiency due to chronic hemoglobinuria
- Irritable bowel syndrome
- Keratitis
- Keratoconjuctivitis
- Keratoconjunctivitis
- Keratopathy
- Kidney diseases
- Kidney failure
- Kidney Failure, Acute
- Kidney failure, Chronic
- Laron Syndrome
- Laron syndrome type 2
- Late onset sensorineural deafness
- Leukopenia
- Lipidemia retinalis
- Little's Disease
- Liver abscess
- Liver cirrhosis
- Liver diseases
- Liver failure
- Lung Abscess
- Lung cyst
- Lung Tuberculosis
- Lupus Erythematosus, Discoid
- Lupus Erythematosus, Systemic
- Lupus-like syndrome
- Lymphadenomegaly
- Lymphocyte count increased
- Lymphocytopenia
- Lymphoid hyperplasia
- Lymphoid interstitial pneumonia

- Macrophage activation syndrome
- Malodorous hyperhidrosis
- Mastoiditis
- Measles
- Membranoproliferative glomerulonephritis
- Membranoproliferative Glomerulonephritis, Type II
- Meningitis
- Meningococcal meningitis
- Meningococcemia
- Meningomyelitis
- Metabolic acidosis
- Microangiopathic hemolytic anemia
- Mild bronchitis
- Mixed connective tissue disease
- Molluscum contagiosum
- Moyamoya Disease
- Mucocutaneous candidiasis
- Multiple infections
- Mycobacterial osteomyelitis
- Mycobacterium avium-intracellulare Infection
- Mycobacterium Infections
- Mycobacterium Infections, Atypical
- Mycoplasma pneumoniae
- Myocardial infarction
- Myocardial necrosis
- Myopia
- Myositis
- Nasopharyngitis
- Neonatal jaundice

- Neonatal respiratory distress
- Nephritis
- Nephrocalcinosis
- Nephroptosis
- Nephrotic syndrome
- Neurological manifestations
- Neuronal intestinal dysplasia
- Neutropenia
- Neutrophil motility disorder
- Nongranulomatous uveitis
- Normocytic anemia
- Nystagmus
- Nystagmus, horizontal
- Obesity
- Oculovestibuloauditory syndrome
- Onychomycosis
- Opportunistic infection
- Optic atrophy
- Oral candidiasis
- Orbital cellulitis
- Osteoarthritis
- Osteochondrodysplasia

- Osteomyelitis
- Osteoporosis
- Other specified inflammatory liver diseases
- Otitis media
- Otitis media recurrent
- Ovarian failure, premature
- Palmoplantar Keratosis
- Pancreatic insufficiency
- Pancreatitis
- Pancytopenia
- Panhypogammaglobulinemia
- Pansinusitis
- Papillon-Lefevre Disease
- Partial functional complement factor D deficiency
- Pauciarticular juvenile rheumatoid arthritis
- Peg-shaped teeth

- Perianal abscess
- Pericardial effusion
- Pericarditis
- Periodontitis
- Periostitis
- Peripheral neuropathy
- Perirectal abscess

- persistant oral thrush
- Persistent otitis media
- Peritonitis
- Petechiae
- Pharyngitis
- Phimosis
- Piebaldism
- Pityriasis rubra pilaris
- Platelet alpha Granule Deficiency
- Platelet Storage Pool Deficiency
- Pleural effusion disorder
- Pleurisy
- Pneumococcal Infections
- Pneumococcal meningitis
- Pneumococcal pneumonia
- Pneumocystis Infections
- Pneumocystis jiroveci pneumonia
- Pneumocystosis
- Pneumonia
- Pneumonia, Interstitial
- Pneumonia, Pneumocystis carinii
- Pneumonia, Staphylococcus Aureus
- Pneumopyothorax
- Poikiloderma
- Polyarthralgia
- Polyarthritis
- Polymyositis
- Premature canities
- Pretibial myxedema
- Primary Haemophilus infectious disease
- Primary hypogonadism
- Primary ovarian failure
- Primary Tuberculosis
- Proctitis
- Progressive muscular atrophy
- Prostatitis
- Proteinuria
- Proteus Infections
- Protracted diarrhea
- Pseudomonas Infections
- Ptosis
- Pulmonary alveolar proteinosis
- Pulmonary Emphysema

- Pulmonary failure
- Pulmonary fibrosis
- Pulmonary hypertension
- Pulmonary Valve Stenosis
- Pure red-cell aplasia
- Purpura
- Purpura, Thrombocytopenic, Idiopathic
- Pyelonephritis
- Pyle metaphyseal dysplasia
- Pyoderma
- Pyoderma gangrenosum
- Pyothorax
- Quadriparesis
- Quadriplegia
- Radioulnar synostosis

- Raynaud disease
- Rectal Fistula

- Rectovaginal fistula
- Recurrent aphthous stomatitis
- Recurrent bacterial infections
- Recurrent bacterial meningitis
- Recurrent chest infections
- Recurrent cytomegalovirus infection
- Recurrent meningitis
- Recurrent perirectal abscesses

- Recurrent respiratory tract infections

- Recurrent sinusitis
- Recurrent upper respiratory tract infection
- Recurrent urinary tract infections
- Renal hypertension
- Respiratory failure
- Respiratory inflammation or infection
- Respiratory syncytial virus infection
- Respiratory tract infection bacterial
- Respiratory Tract Infections
- Retinal Diseases
- Retinitis pigmentosa
- Rheumatoid arthritis
- Rhinitis

- Rubella
- SCID due to absent T cell receptor
- Sclerocornea
- Scleroderma
- Seborrheic dermatitis
- Selective IgG Immunodeficiency
- Sensorineural hearing loss, bilateral
- Sensory hearing loss
- Sepsis
- Septic arthritis
- Septicemia
- Severe combined immunodeficiency
- Severe congenital neutropenia
- Severe growth failure
- Severe lung abscess

- Severe pneumonia
- Simplex virus infectious disease
- Sinusitis
- Skeletal dysplasia
- Skin infection
- Skin ulcer
- Sleep Apnea Syndromes
- Slipped capital femoral epiphyses
- Somatotropin deficiency
- Spastic paraplegia
- Splenic Abscess
- Spondyloepiphyseal dysplasia, congenita

- Spondylometaphyseal dysplasia

- Staphylococcal Infections
- Staphylococcus aureus infection
- Steatorrhea
- Stenosis of nasolacrimal duct

- Stomach Volvulus
- Stomatitis
- Strabismus
- Streptococcal meningitis
- Streptococcus pyogenes abscess
- Suppurative otitis media
- Systemic infection
- T-Cell Immunodeficiency
- Telangiectasia
- Tendinitis
- Tetany
- Thrombocytopenia
- Thyroid diseases
- Thyroiditis
- T-lymphocyte deficiency
- Tonsillitis
- Transcobalamin II deficiency
- Transient ischemic attack
- Trichorrhexis invaginata

- Truncus Arteriosus, Persistent

- Trypanosomiasis
- Tuberculous pneumonia
- Ulcerative colitis
- Ulcerative stomatitis
- Umbilical hernia
- Unilateral uveitis
- Upper respiratory tract infections
- Urachal Cyst
- Uremia

- Urethral obstruction

- Urinary tract infections
- Uveitis
- Varicella-zoster virus infection
- Vasculitis
- Vasculitis of the skin
- Ventricular fibrillation
- Ventricular Septal Defects

- Viral gastroenteritis
- Viral laryngitis
- Virus Disease
- Visual impairment

- Vitiligo
- Wasting syndrome
- Welts
- Xanthoma
- Xanthomatosis
- Xerosis
- Finding
- Aberrant melanosome maturation
- Abnormal dentition
- Abnormal eye motility
- Abnormal fecal fat
- Abnormal folded pinna
- Abnormal immunoglobulin levels
- Abnormal keratinization
- Abnormal leukocyte function
- Abnormal molecular weight of factor B
- Abnormal neutrophil nuclear segmentation
- Abnormal pigmentation
- Abnormal pinnae
- Abnormal postural tone
- Abnormal Schilling test (not normalized by addition of intrinsic factor)
- Abnormal thymic epithelium
- Abnormality of eosinophils
- Abnormality of hair pigmentation
- Abscess formation in any organ
- Abscesses are 'cold,' lacking erythema, heat, and swelling
- Absence of bactericidal oxidative respiratory burst in phagocytes
- Absence of factor B
- Absence of IFN-gamma signaling
- Absence of peripheral blood lymphocytes
- Absence of pus formation at site of infection
- Absent B cells
- Absent mitogenic response
- Absent natural killer cell cytotoxicity
- Absent or severely reduced levels of serum immunoglobulins
- Absent peripheral blood T cells
- Absent reflex
- Absent sialyl-Lewis X ligand (SLeX) expression
- Absent specific antibody response
- Absent upper lateral incisors
- Absolute neutrophil count increased
- Abundant CD4+ T cells
- Accumulation of melanosomes in melanocytes
- Achalasia

- Activation of the alternative complement pathway
- Activation of the alternative complement pathway and depletion of complement components
- Adrenocortical insufficiency (uncommon)
- Agranulocytosis

- Alopecia
- Aplasia of the sweat glands
- Aplasia/Hypoplasia of the middle phalanx of the 5th finger
- Apneic episodes
- Apraxia of eyelid opening
- Ascites
- Asymmetric face
- Asymmetrical skull
- Atypical lymphocytosis
- Behavioral disturbances
- Bifid femur
- Bilateral bronchiectasis
- Bilateral extensor plantar response
- Biliary tract abnormality
- Bird-like facies
- Blunted nose
- Body Weight decreased
- Bone-within-bone appearance
- Brisk deep tendon reflexes
- Brisk reflexes
- Broad nasal bridge
- Broad nasal root
- Broad nasal tip
- Broad skull
- Broad, short feet
- Bronchial obstruction
- Bulbous nasal tip
- Butterfly rash
- Cafe Au Lait Patch
- Cardiomegaly
- Central nervous system degeneration
- Central nervous system malformations
- Cerebellar anomaly
- Cerebellar malformation
- Cerebellar signs
- Cerebral white matter abnormalities
- Chills

- Choanal atresia or stenosis
- Chronic candidiasis of mucosa, skin and nails
- Chronic fatigue
- Chronic noninfectious lymphadenopathy
- Chronic human papillomavirus (HPV) infection
- Clinodactyly (fifth finger)
- Coagulation abnormalities
- Coarse facial features
- Colobomas of optic disk, choroid, ciliary body, and iris
- Combined variable immunodeficiency involving B and T cells
- Complex cardiac malformations
- Complicated strabismus
- Congenital coxa vara

- Conjunctival hyperemia
- Conotruncal defects
- Constitutional sun sensitivity finding
- Corneal opacity
- Coxa vara
- Craniosynostosis (rare)
- Crusted papules
- Cup-shaped ears
- Cutaneous infections (furunculosis, skin abscesses, hidradenitis suppurativa)
- Cutaneous infections (Staphylococcus aureus, herpes simplex)
- Decreased bone mineral density
- Decreased CD4+ and CD3+/CD4+ lymphocytes
- Decreased CD4+ cells subset
- Decreased CSF folate
- Decreased cytotoxic activity of CD8+ T cells
- Decreased liver function
- Decreased natural killer cells
- Decreased number of CD8+ T cells
- Decreased numbers of B cells
- Decreased numbers of circulating T cells
- Decreased numbers of natural killer cells (NK)
- Decreased percentage of IgD+ IgM+ CD27+ memory B cells
- Decreased serum C3
- Decreased serum folate
- Decreased serum IgG
- Decreased serum trypsinogen
- Decreased T cell activation
- Decreased T cell production of cytokines
- Decreased T cells
- Decreased testicular size
- Deep philtrum
- Deep set eyes
- Defective B cell differentiation
- Defective cellular immunity
- Defective lymphocyte apoptosis
- Defective neutrophil function
- Defective production of NFKB1-dependent cytokines by white blood cells
- Deficient growth hormone response to insulin, arginine, or levodopa
- Delayed development if untreated
- Delayed loss of deciduous teeth
- Delayed puberty
- Delayed skeletal maturation
- Delayed speech acquisition
- Dental crowding
- Depressed nasal bridge
- Dermatitis, infectious, due to immunodeficiency impetigo
- Desquamation of skin soon after birth
- Developmental delay in early childhood
- Developmental delay, severe
- Diarrhea

- Diffuse cerebellar atrophy
- Diminished lymphocyte response to phytohemaglutinin
- Discoid lupus in carriers or adults with mild disease
- Disproportionate short stature
- Distal muscle weakness

- Distorted primary molars
- Does protrude tongue
- Doll-like' facies
- Down slanting palpebral fissures
- Dry skin
- Dry, scaly skin
- Dwarfism, short-trunk, short-limbed
- Dysplastic nails
- Early tooth loss
- Ecchymosis
- Eczema, severe
- Elevated alkaline phosphatase
- Elevated bilirubin (bilirubinemia)
- Elevated fetal hemoglobin
- Elevated Sed Rate
- Elevated serum IgA
- Elevated serum IgE
- Elevated serum phosphorus
- Elevated thyroid stimulating hormone (TSH)
- Elevated urinary 2-ethylhydracrylate
- Elevated urinary 3-methylglutaconate
- Elevated urinary 3-methylglutarate
- Enamel dysplasia
- Endomyocardial fibroelastosis on light microscopy
- Enlarged kidneys
- Enlargement of lymph nodes
- Enteroviral hepatitis
- Eosinophilia
- Epicanthus inversus
- Episodic Fever
- Episodic, nonpruritic, nonurticarial, nonpitting edema
- External ear malformations
- Eyelid hooding
- Facial erythema
- Facial swelling
- Facies Coarse
- Failure to thrive (early infancy)
- Fair hair
- Fair skin
- Fatigue

- Feeding difficulties
- Femurs mildly bowed
- Fertility female decreased
- Fever
- Fever, periodic, recurrent
- Fibrinopenia
- Fifth finger single interphalangeal crease
- Fine hair
- Fine, reticulate skin pigmentation
- Flaring of lower rib cage
- Flat, broad nasal bridge
- Flattened nasal bridge
- Flexion contractures of the toes
- Forehead high
- Frequency of infections decreases after 3 years of age
- Frequent pyogenic infections
- Frequent upper respiratory infections
- Frequent, severe infections
- Fulminant infectious mononucleosis
- Fungal infections, recurrent
- Generalized hypotonia
- Generalized severe Growth retardation
- Genital abnormality
- Giant germinal centers in lymph nodes
- Growth deficiency
- Head lag
- Head tremor
- Hearing deficit
- Hearing Impairment
- Hematology finding abnormal
- Hematuria
- Hemifacial spasm
- Hepatic abscesses due to immunodeficiency
- Hepatic enzymes increased
- Hh blood group phenotype
- High pitched voice
- Highly arched eyebrows
- Histology shows large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen
- Hyperactive behavior
- Hyperextensible joints
- Hyperhidrosis disorder
- Hypernasal speech
- Hypernatremic dehydration
- Hyperpigmented macules
- Hyperpigmented skin patches (face, neck, trunk, limbs, lip, oral mucosa, palms, and soles)
- Hyperreflexia
- Hypersensitivity to ionizing radiation
- Hypertriglyceridemia

- Hypoaldosteronism, transient, isolated
- Hypophonia
- Hypopigmented skin patch
- Hypoplastic nails
- Hypoplastic optic disks
- Hypoplastic pubic rami
- Hypoplastic supraorbital ridges
- Hypoplastic thymus which often lacks Hassal corpuscles
- Hypotonia (in infancy)
- Hypoxemia
- IgA, decreased
- IgG, decreased
- IgM, decreased
- IgM, Elevated
- Immunoglobulins abnormal
- Impaired distal sensation of all modalities
- Impaired Ig class switch recombination (CSR)
- Impaired immune responses
- Impaired ocular adduction
- Impaired seroconversion of immunoglobulins in response to vaccination
- Impaired spermatogenesis
- Impaired T cell activation
- Impaired T cell proliferation and activation
- Impaired T cell proliferative response
- Impaired vision

- Increased IgE level
- Increased malignancy risk, especially lymphoma and skin neoplasm
- Increased number of B cells
- Increased risk of malignancy
- Increased serum ferritin
- Increased susceptibility to bacterial infections
- Increased susceptibility to infection
- Increased susceptibility to pneumocystis and cytomegalovirus infections
- Increased total number of CD19+ B cells
- Increased urinary formiminoglutamic acid (FIGLU)
- Infection, recurrent
- Inguinal lymph node enlargement
- Interferon alpha level increased
- Intermittent generalized erythematous papular rash
- Intermittent lactic acidemia
- Intermittent migraine headaches
- Intracerebral periventricular calcifications
- Intracranial calcification
- Involuntary dystonic or choreiform movements
- Iris hypoplasia, partial
- Irregular ossification at anterior rib ends
- Irregular, lacy iliac crests
- Joint abnormality
- Joint hyperextensibility, especially hands, wrist, and feet
- 'Key-hole' iris, retina, choroid coloboma
- Large anterior fontanelle
- Large clumps of pigment irregularly distributed along hair shaft (light microscopy)
- Large dysplastic ears
- Large tonsils
- Late-onset speech development
- Late-onset spinocerebellar degeneration
- Laterally displaced femoral heads
- Lethargy

- Lewis a- and b- negative cells
- Light colored hair
- Limited elbow extension
- Liver function tests abnormal finding
- Localized cellulitis
- Localized skin lesion
- Long, flat philtrum
- Longitudinal ridging
- Longitudinal splitting
- Low B cell count
- Low Birth Weights
- Low grade fever
- Low IgG in adolescence
- Low intelligence
- Low level of C4 and C2
- Low or normal serum immunoglobulins
- low parathyroid hormone
- Low peripheral neutrophil counts
- Low plasma methionine
- Low serum calcium
- Lower limb spasticity
- Low-set posteriorly rotated ears
- Lymph nodes lack germinal centers
- Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells
- Lymphocyte count normal
- Lymphoid hypoplasia
- Macular hypoplasia
- Maculopapular rash, episodic
- Madarosis of eyebrow
- Malar hypoplasia
- Markedly delayed nerve conduction velocities
- Markedly reduced IgA levels
- Markedly reduced neutrophil motility
- Marrow megakaryocytes abnormal
- Mask-like facies
- Megaloblastic anemia, folate-responsive
- Melanin pigment aggregation in hair shafts
- Mental retardation if untreated
- mesangial sclerosis
- Metacarpal pseudoepiphyses
- Metaphyseal chondrodysplasia of long bones
- Middle ear abnormalities
- Migratory rashes, painful
- mild anemia
- Mild fever
- Mild gait ataxia
- Mild prognathism
- Mild scoliosis
- Mild to moderate learning difficulties
- Mild-severe postnatal growth deficiency
- Mitral regurgitation
- Moderate age-related improvement of pancreatic function
- Moderately depressed antibody response to polysaccharide antigens
- Moderate-severe anemia
- Monocytes decreased
- Monocytopenia
- Motor delay
- Motor developmental delay
- Motor retardation

- Motor retardation, mild
- Muscle biopsy shows abnormal mitochondria with paracrystalline inclusions
- Muscle weakness
- Muscular hypotonia of the trunk
- Myalgia, episodic
- Myopathy, nonprogressive
- Nail dystrophy, variable
- Nail pitting
- Nail ridging
- Narrow chest
- Narrow face
- Narrow interpediculate distances
- Narrow sacroiliac notch
- Narrowness of neural and vascular foramina
- Neutrophil abnormality

- Neutrophil chemotaxis abnormal
- Neutrophil maturation in bone marrow intact
- Neutrophilia
- Neutrophilia, both basal and during infections
- Normal B-cell (CD19+) count
- Normal B-cell count
- Normal CD8+/CD4+ ratio
- Normal growth hormone studies
- Normal IgA levels
- Normal IgG levels
- Normal IgM levels
- Normal intelligence
- Normal number of B cells
- Normal number of T cells
- Normal or increased IgM
- Normal serum cobalamin
- Normal serum immunoglobulin levels
- Normocephaly
- Occasional brachycephaly
- Occasional mild odontoid hypoplasia
- Oral ulcer
- Ovoid vertebral bodies
- Palmoplantar hyperkeratosis
- Pancreatic lipomatosis
- Paralysed
- Parathyroid absence
- Pelvic dysplasia
- Perianal rash
- Perihilar mesangial deposition of proteinaceous material
- Periodontal destruction
- Peripheral axonal neuropathy, distal, vasculitic
- Perirectal abscesses due to immunodeficiency
- Periumbilical depression
- Periventricular white matter changes
- Persistent or intermittent neutropenia
- Photosensitive skin rashes
- Plasma cells absent
- Platyspondyly
- Pneumatocele formation
- Pointed chin
- Poor head control
- Poor wound healing
- Postnatal growth deficiency
- Preauricular skin tag
- predisposition to cancer

- Prenatal growth deficiency
- Prenatal onset growth retardation
- Primary adrenocortical failure
- Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation
- Profuse pigmented skin lesions
- Progressive deafness
- Progressive peripheral neuropathy
- Progressive renal failure
- Progressive visual loss
- Prominent forehead
- Prominent midface
- Protruding abdomen
- Protuberant abdomen
- Proximally placed thumbs
- Recurrent bacterial, viral, and fungal infections
- Recurrent gastrointestinal infections
- Recurrent infections in infancy and early childhood
- Recurrent pyogenic infections
- Recurrent respiratory infections
- Recurrent respiratory tract infections
- Recurrent sinopulmonary infections
- Recurrent skin abscesses
- Recurrent skin infections
- Recurrent Staphylococcus aureus infections
- Recurrent upper respiratory and lower respiratory infections
- Recurrent viral infections
- Red blood cells lack H- antigen
- Reduced CD4+/CD8+ ratio with CD8+ predominance
- Reduced creatinine clearance
- Reduced IgA levels
- Reduced IgG levels, particularly the IgG2 subclass
- Reduced iris pigmentation
- Reduced life expectancy
- Reduced natural killer cell activity
- Reduced resorption of primary tooth roots
- Reduced unsaturated serum cobalamin binding capacity
- Reduced visual acuity
- Reduced/absent deep tendon reflexes
- Renal dysfunction
- Retarded motor development
- Retarded psychomotor development
- Reticulated skin pigmentation
- Reticulocytopenia
- Reticulocytosis
- Rib abnormalities
- Sacral Dimple
- Saddle nose
- Sandwich appearance of vertebral bodies
- Scarred glomerular tufts
- Seizures (tetany)
- Serum folate normal
- Serum IgA, IgG, and IgE severely deficient
- Severe autoimmune cytopenia
- Severe failure to thrive
- Severe fat maldigestion
- Severe inflammation
- Severe retarded psychomotor development
- Severe, early-onset periodontitis
- Shallow acetabular fossae
- Short fifth finger
- Short limb dwarfism
- Short neck
- Short philtrum
- Short stature, disproportionate short-limbed (dwarfism)
- Short, broad iliac bones
- Short, horizontal ribs
- Silver-gray hair
- Skeletal myopathy
- Skin rough
- Slanted acetabular roofs
- Slightly reduced neutrophil adherence
- Sloping forehead
- Slow gross motor activity
- Slowed saccades
- Small capital femoral epiphyses
- Small ears
- Small facies
- Small hands
- Small head circumference (lower end of normal)
- Small lymph nodes
- Small lymph nodes, which lack paracortical regions
- Small or absent thymus, which contains poorly formed Hassal corpuscles
- Small pelvic inlet
- Small, downturned mouth
- Sparse eyebrows, eyelashes, and beard
- Sparse eyelashes
- Sparse hair
- Sparse scalp hair
- Sparse, brittle scalp hair
- Specific antibody production very poor
- Splayed metaphyses
- Splenomegaly
- Square face
- Stenosis of nasolacrimal duct

- Sural nerve biopsy shows axonal degeneration
- Susceptibility to bacterial and viral infections
- Susceptibility to chickenpox
- Swelling of hand
- Swollen gland
- Systemic amyloidosis may occur
- T cell deficit
- Thick, dense skull
- Thickening of the soft tissue of the nose
- Thin vermillion border of upper lip
- Thumb aplasia/hypoplasia
- Thumb deformity
- Tibia shorter than fibula
- Tonsil absent
- Tortuous retinal vasculature
- Triangular facies
- Ultrastructural abnormalities in mitochondria on electron microscopy
- Unconscious State
- Uniformly dense skeleton
- Unilateral bronchiectasis
- Unintelligible speech
- Upslanting palpebral fissures
- Uremia

- Vertebral body abnormalities
- Very low IgA
- Villous atrophy
- Visual impairment

- Waddling gait
- White blood cell abnormality

- White blood cell count increased
- White blood cell count increased (lab result)
- Wide mouth
- Widely spaced teeth
- Genetic Function
- Immunologic Factor
- Individual Behavior
- Injury or Poisoning
- Laboratory or Test Result
- Abnormal dendritic cell homeostatsis
- Abnormal lymphocyte homeostasis
- Anti-neutrophil cytoplasmic antibody negative
- Bone marrow megaloblastic
- CSF: lymphocytosis
- Delayed Neisserial killing
- Hypersegmentation
- Hypertriglyceridemia

- Inab phenotype
- Increased estrogen level
- Low-titer antinuclear antibodies
- Neutrophil antibody positive
- Normal serum complement C3
- Platelet antibody positive
- Abnormal dendritic cell homeostatsis
- Mental or Behavioral Dysfunction
- Amnesia
- Aphasia
- Attention deficit hyperactivity disorder
- Bipolar disorder
- Developmental retardation
- Dysarthria
- Impaired cognition
- Learning Disabilities
- Memory impairment
- Mental deficiency
- Mental retardation
- Mental retardation by the age of 7 years
- Mild Mental retardation (I.Q. 50-70)
- Problem behavior
- Problem;language
- Speech impairment
- Mental Process
- Neoplastic Process
- Basal cell carcinoma
- Burkitt Lymphoma
- Carcinoma of mouth
- Chronic myelomonocytic leukemia
- Epidermodysplasia verruciformis
- Familial acute myelogenous leukemia
- Glioma
- Hepatocellular carcinoma

- Hodgkin Disease
- Inflammatory myofibroblastic tumor
- Leukemia
- Leukemia, Myelocytic, Acute
- Leukoplakia
- Lymphoma
- Lymphoma, Diffuse
- Lymphomatoid granulomatosis
- Lymphoproliferative disorder
- Malignant lymphoma
- Malignant neoplasm of esophagus
- Malignant Neoplasms
- Myelodysplasia

- Pancreatic carcinoma
- Primary myelofibrosis
- Recurrent skin cancer
- Organism Attribute
- Pathologic Function
- Abnormal susceptibility to infections
- Abscess
- Abscess of skin AND/OR subcutaneous tissue
- Acute-Phase Reaction
- Angioedema
- Atopy
- Axillary lymphadenopathy
- Bacteremia associated with intravascular line
- Bleeding tendency
- Cerebral hemorrhage
- Cervical lymphadenopathy
- Chronic diarrhea
- Cytopenia
- Delayed separation of umbilical cord
- Dystrophy
- Edema
- Edema pharynx
- Epistaxis
- Fetal Growth Retardation
- Fibrosis
- Fibrosis endocardial
- Granuloma
- Growth retardation
- Haemorrhage
- Hemarthrosis
- Hematoma
- Hemorrhagic shock
- Hypocalcemia
- Hypotonicity
- Hypoxia
- Icterus

- Ineffective erythropoiesis
- laryngeal Edema
- Leukocytosis
- Melena
- Omphalitis of the newborn
- Oral hemorrhage
- Osteopenia
- Pathologic fractures
- Persistent fever
- Primary atelectasis, in perinatal period
- Pulmonary Emphysema

- Pulmonary hemorrhage
- Rectal abscess
- Recurrent gastrointestinal bleeding
- Septic shock
- Serositis
- Tachycardia
- Thrombocytopenia due to platelet alloimmunization
- Qualitative concept
- Sign or Symptom
- Abdominal discomfort
- Abdominal pain
- Anosmia
- Arthralgia
- Ataxia
- Ataxic Gait
- Athetosis
- Blepharospasm
- Bradykinesia
- Bulging fontanelle
- Cachexia
- Cerebellar Ataxia
- Chest pain
- Chills

- Chronic abdominal pain
- Chronic cough
- Clubbing
- Coarse hair
- Constipation
- Cough
- Coughing
- Cutaneous symptoms
- Cyanosis
- Decreased tendon reflex
- Diarrhea

- Dizziness
- Dyspnea
- Dysuria
- Ears, nose and throat infections
- Edema legs
- Episodic abdominal pain
- Erythema
- Esophageal atresia
- Excessive tearing
- Extraocular muscle paralysis
- Extreme fatigue
- Fatigue

- Gait abnormality
- Generalized aches and pains
- Headache
- Hematemesis
- Hemiplegia
- Hemoptysis
- Hepatomegaly
- Hepatosplenomegaly
- High fever
- Hypertonia
- Hypokinesia
- Hypotonia
- Impaired vision

- Indifferent mood
- Irritable Mood

- Intermittent abdominal pain
- Joint swelling

- Lethargy

- Low Back Pain
- Macular rash
- Maculopapular Lesion
- Malaise
- Motor retardation

- Muscle hypotonia
- Muscle Spasticity
- Muscle stiffness
- Myalgia
- Nasal congestion
- Nausea
- Neck stiffness
- Non-pruritic urticaria
- Numbness
- Oliguria
- Pain
- Pain in lower limb
- Pallor
- Periorbital edema
- Persistent cough
- Pharyngeal dryness
- Photophobia
- Prominent nose
- Pruritus
- Rales
- Rash
- Recurrent abdominal pain
- Rest Tremor
- Rhinitis

- Rhonchi
- Seizures
- Severe diarrhea
- Sore Throat
- Spinal myoclonus
- Swelling of feet
- Swelling of limb
- Swollen legs
- tachypnea
- Thickened skin
- Thickening of skin
- Tonic Convulsion
- Torticollis
- Tremor
- Tremors, Limb
- Trichorrhexis invaginata

- Vertigo
- Vomiting
- Weakness
- Wheezing
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