PIDLA
Primary ImmunoDeficiency Look-up App
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HPO
Features
Blood and blood-forming tissues
Abnormal B cell count
Abnormal B cell morphology
Abnormal bleeding
Abnormal CD4:CD8 ratio
Abnormal dense granules
Abnormality of bone marrow cell morphology
Abnormality of the coagulation cascade
Abnormality of thrombocytes
Abnormally low T cell receptor excision circle level
Abnormal lymphocyte count
Abnormal lymphocyte morphology
Abnormal natural killer cell count
Abnormal natural killer cell morphology
Abnormal proportion of CD4-positive T cells
Abnormal proportion of CD8-positive T cells
Abnormal T cell count
Abnormal T cell morphology
Absence of CD8-positive T cells
Absent circulating B cells
Absent natural killer cells
Absent neutrophil specific granules
Absent platelet dense granules
alpha-beta regulatory T cells
alpha-beta T cells
Anemia
Anemia of inadequate production
Anisocytosis
Anisopoikilocytosis
Aplastic anemia
Autoimmune hemolytic anemia
Autoimmune thrombocytopenia
Bleeding with minor or no trauma
B lymphocytopenia
Bone marrow arrest at the promyelocytic stage
Bone marrow hypercellularity
Bone marrow hypocellularity
Bone marrow maturation arrest
CD8-negative
Cerebral hemorrhage
Congenital agranulocytosis
Coombs-positive hemolytic anemia
Cyclic neutropenia
Decreased basophil count
Decreased CD4:CD8 ratio
Decreased helper T cell proportion
Decreased mean corpuscular volume
Decreased mean platelet volume
Decreased proportion of CD3-positive T cells
Decreased proportion of CD4+CD25+ regulatory T cells
Decreased proportion of CD4-positive helper T cells
Decreased proportion of CD4-positive T cells
Decreased proportion of CD8-positive T cells
Decreased proportion of central memory CD4-positive
Decreased proportion of class-switched memory B cells
Decreased proportion of memory B cells
Decreased proportion of naive CD4 T cells
Decreased proportion of naive CD8 T cells
Deep venous thrombosis
Diffuse alveolar hemorrhage
Elevated hemoglobin A1c
Elevated proportion of CD4-negative
Elliptocytosis
Enlarged platelet dense granules
Eosinophilia
Epistaxis
Erythroid hyperplasia
Erythroid hypoplasia
Extramedullary hematopoiesis
Fava bean-induced hemolytic anemia
Folate-responsive megaloblastic anemia
Gastrointestinal hemorrhage
Giant neutrophil granules
Gingival bleeding
Granulocytic hyperplasia
Granulocytopenia
Granulomatosis
Heinz bodies
Hematemesis
Hematochezia
Hemolytic anemia
Hemophagocytosis
Hepatic vein thrombosis
Histiocytosis
Howell-Jolly bodies
Hypercoagulability
Hypereosinophilia
Hyperfibrinogenemia
Hypersegmentation of neutrophil nuclei
Hypofibrinogenemia
Hypochromic anemia
Hypochromic microcytic anemia
Hypoplastic anemia
Chronic neutropenia
Impaired ADP-induced platelet aggregation
Impaired lymphocyte transformation with phytohemagglutinin
Impaired neutrophil bactericidal activity
Impaired oxidative burst
Increased B cell count
Increased CD4:CD8 ratio
Increased mean corpuscular volume
Increased mean platelet volume
Increased proportion autoreactive unresponsive CD21-/low B cells
Increased proportion of CD4-positive T cells
Increased proportion of exhausted T cells
Increased proportion of gamma-delta T cells
Increased proportion of HLA DR+ T cells
Increased proportion of transitional B cells
Intermittent thrombocytopenia
Intestinal bleeding
Intracranial hemorrhage
Iron deficiency anemia
Leukocytosis
Leukopenia
Lymphocytosis
Lymphopenia
Macrocytic anemia
Megakaryocyte dysplasia
Megaloblastic anemia
Megaloblastic bone marrow
Microangiopathic hemolytic anemia
Microcytic anemia
Monocytopenia
Monocytosis
Myelokathexis
Neutropenia
Neutropenia in presence of anti-neutropil antibodies
Neutrophilia
Normocytic anemia
Pancytopenia
Persistence of hemoglobin F
Poikilocytosis
Prolonged bleeding time
Prolonged partial thromboplastin time
Prolonged prothrombin time
Pulmonary hemorrhage
Pure red cell aplasia
recurrent epistaxis
Reduced antithrombin III activity
Reduced coagulation factor V activity
Reduced factor IX activity
Reduced factor VII activity
Reduced factor XI activity
Reduced factor XII activity
Reduced factor XIII activity
Reduced natural killer cell count
Reduced proportion of mucosal-associated invariant T cells
Reduced red cell adenosine deaminase level
Reduction of neutrophil motility
Reticulocytopenia
Reticulocytosis
Severe B lymphocytopenia
Spontaneous
Subarachnoid hemorrhage
Thrombocytopenia
Thrombocytosis
T lymphocytopenia
Transient neutropenia
Breast
Areolar fullness
Gynecomastia
Inverted nipples
Cardiovascular
Abdominal aortic aneurysm
Abnormal heart morphology
Abnormality of cardiovascular system morphology
Abnormality of the vasculature
Aortic arch aneurysm
Aortic regurgitation
Aortic root aneurysm
Arrhythmia
Arterial tortuosity
Arteriosclerosis
Arteritis
Ascending aortic dissection
Ascending tubular aorta aneurysm
Atrial septal defect
Atrioventricular canal defect
Bicuspid aortic valve
Bicuspid pulmonary valve
Biventricular hypertrophy
Bradycardia
Budd-Chiari syndrome
Cardiomegaly
Cardiomyopathy
Carotid artery dilatation
Cerebral ischemia
Coarctation of aorta
Complete atrioventricular canal defect
Congestive heart failure
Cor pulmonale
Cor triatriatum
Descending aortic dissection
Descending thoracic aorta aneurysm
Dilatation of mesenteric artery
Dilatation of the ductus arteriosus
Dilated cardiomyopathy
Double outlet right ventricle
Dysplastic tricuspid valve
Endocardial fibroelastosis
Endocardial fibrosis
Generalized arterial tortuosity
Hypertension
Hypertrophic cardiomyopathy
Increased left ventricular end-diastolic volume
Left superior vena cava draining directly to the left atrium
Left superior vena cava draining to coronary sinus
Left ventricular hypertrophy
Mitral regurgitation
Mitral valve prolapse
Myocardial necrosis
Obstruction of the superior vena cava
Overriding aorta
Patent ductus arteriosus
Patent foramen ovale
Pericardial effusion
Pleural lymphangiectasia
Presyncope
Primum atrial septal defect
Pulmonary lymphangiectasia
Pulmonic stenosis
Raynaud phenomenon
Right aortic arch
Secundum atrial septal defect
Tetralogy of Fallot
Third degree atrioventricular block
Transposition of the great arteries
Tricuspid regurgitation
Truncus arteriosus
Varicose veins
Vascular dilatation
Vasculitis
Ventricular septal defect
Cellular phenotype
Abnormal B cell proliferation
Abnormal circulating IgG level
Abnormal circulating IgM level
Abnormal immunoglobulin level
Abnormality of B cell physiology
Abnormal lymphocyte physiology
Abnormal lymphocyte proliferation
Abnormal natural killer cell physiology
Absent isohemagglutinin level
Absent specific antibody response
Agammaglobulinemia
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 tetanus vaccine
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
Cutaneous anergy
Decreased CD69 upregulation upon TCR activation
Decreased circulating antibody level
Decreased circulating IgA level
Decreased circulating IgE
Decreased circulating IgG level
Decreased circulating IgG2 level
Decreased circulating total IgA
Decreased circulating total IgG
Decreased circulating total IgM
Decreased lymphocyte apoptosis
Decreased lymphocyte proliferation in response to anti-CD3
Decreased lymphocyte proliferation in response to mitogen
Decreased specific antibody response to polysaccharide vaccine
Decreased specific antibody response to vaccination
Decreased specific anti-polysaccharide antibody level
Decreased specific pneumococcal antibody level
Decreased T cell activation
Defective B cell activation
Defective B cell differentiation
Defective T cell proliferation
Dysgammaglobulinemia
Chronic decreased circulating total IgG
Chronic decreased cirulating IgG2
Chronic (near) absent circulating IgG4
Chronic partially decreased circulating IgG1
Impaired Ig class switch recombination
Impaired memory B cell generation
Impaired T cell function
Increased circulating antibody level
Increased circulating IgA level
Increased circulating IgD level
Increased circulating IgE level
Increased circulating IgG level
Increased circulating IgM level
Lack of T cell function
Panhypogammaglobulinemia
Partial absence of specific antibody response to tetanus vaccine
Partial absence of specific antibody response to unconjugated pneumococcus vaccine
Reduced antigen-specific T cell proliferation
Reduced CD95-induced lymphocyte apoptosis
Reduced delayed hypersensitivity
Reduced isohemagglutinin level
Reduced natural killer cell activity
Short telomere length
Clinical course
Adult onset
Congenital onset
Death in adolescence
Death in childhood
Death in infancy
Early young adult onset
Fetal onset
Childhood onset
Infantile onset
Juvenile onset
Late onset
Middle age onset
Miscarriage
Neonatal death
Neonatal onset
Progressive
Stillbirth
Third trimester onset
Young adult onset
Connective tissue
Adipose tissue loss
Amelogenesis imperfecta
Camptodactyly of finger
Cellulitis
Corneal scarring
Elbow flexion contracture
Enamel hypoplasia
Flexion contracture of finger
Flexion contracture of toe
Generalized lipodystrophy
Hernia
Joint contracture of the hand
Joint contracture of the 5th finger
Knee flexion contracture
Lipodystrophy
Macular scar
Constitutional Symptom
Abdominal pain
Arthralgia
Asthenia
Bone pain
Episodic abdominal pain
Exercise intolerance
Fatigue
Chest pain
Chills
Chronic fatigue
Lower limb pain
Myalgia
Night sweats
Pain
Pharyngalgia
Digestive System
Abnormal intestine morphology
Abnormality of the liver
Abnormality of the pancreas
Accessory spleen
Acute hepatic failure
Acute pancreatitis
Achalasia
Anal atresia
Anal fissure
Anal mucosal leukoplakia
Anal stenosis
Annular pancreas
Anoperineal fistula
Anorexia
Anteriorly placed anus
Ascites
Asplenia
Atrophic gastritis
Bile duct proliferation
Biliary atresia
Biliary tract abnormality
Bloody diarrhea
Celiac disease
Cirrhosis
Colitis
Colonic atresia
Colonic diverticula
Colonic eosinophilia
Constipation
Crohn's disease
Diarrhea
Duodenal atresia
Duodenitis
Dysphagia
Enterocolitis
Enterocutaneous fistula
Enteroviral hepatitis
Eosinophilic infiltration of the esophagus
Eosinophilic liver infiltration
Esophageal atresia
Esophageal stenosis
Esophageal stricture
Esophageal varix
Esophagitis
Exocrine pancreatic insufficiency
Feeding difficulties
Feeding difficulties in infancy
Fluctuating splenomegaly
Focal active colitis
Frequent Giardia lamblia infestation
Fulminant hepatitis
Gastritis
Gastroesophageal reflux
Gastrostomy tube feeding in infancy
Helicobacter pylori infection
Hepatic amyloidosis
Hepatic bridging fibrosis
Hepatic cysts
Hepatic failure
Hepatic fibrosis
Hepatic necrosis
Hepatic steatosis
Hepatitis
Hepatomegaly
Hepatosplenomegaly
Hiatus hernia
Hyperechogenic pancreas
Hypersplenism
Hypoplastic spleen
Cholangitis
Cholelithiasis
Cholestasis
Cholestatic liver disease
Chronic active hepatitis
Chronic constipation
Chronic diarrhea
Chronic hepatitis
Chronic hepatitis due to cryptosporidium infection
Ileal atresia
Ileal ulcer
Ileitis
Ileus
Increased fecal calprotectin level
Increased hepatic echogenicity
Inflammation of the large intestine
Inguinal hernia
Interface hepatitis
Intermittent diarrhea
Intestinal atresia
Intestinal edema
Intestinal inflammation
Intestinal lymphangiectasia
Intestinal malrotation
Intestinal obstruction
Intestinal perforation
Intractable diarrhea
Jaundice
Jejunal atresia
Liver abscess
Lymphocytic infiltration of the colorectal mucosa
Macrovesicular hepatic steatosis
Malabsorption
Malnutrition
Mucoid diarrhea
Nausea
Necrotizing enterocolitis
Omphalocele
Pancolitis
Pancreatic hypoplasia
Pancreatitis
Perianal dermatitis
Peritonitis
Polysplenia
Portal hypertension
Portal inflammation
Prolonged neonatal jaundice
Protein-losing enteropathy
Protracted diarrhea
Protuberant abdomen
Pseudobulbar paralysis
Pyloric stenosis
Rectal abscess
Rectal atresia
Rectal fistula
Rectal prolapse
Rectovaginal fistula
Recurrent gastroenteritis
Recurrent infection of the gastrointestinal tract
Retroperitoneal fibrosis
Sclerosing cholangitis
Secretory diarrhea
Splenomegaly
Steatorrhea
Tracheoesophageal fistula
Ulcerative colitis
Umbilical hernia
Villous atrophy
Viral hepatitis
Vomiting
Ear
Abnormal pinna morphology
Anotia
Aplasia of the semicircular canal
Conductive hearing impairment
Cupped ear
Hearing impairment
Lop ear
Low-frequency sensorineural hearing impairment
Low-set ears
Macrotia
Microtia
Mixed hearing impairment
Otitis externa
Overfolded helix
Posteriorly rotated ears
Progressive sensorineural hearing impairment
Protruding ear
Sensorineural hearing impairment
Simple ear
Tympanosclerosis
Vertigo
Endocrine
Abnormality of the thymus
Abnormal response to ACTH stimulation test
Adrenal insufficiency
Adrenocorticotropic hormone excess
Aplasia/Hypoplasia of the thymus
Aplasia of the thymus
Central adrenal insufficiency
Decreased circulating aldosterone level
Decreased circulating parathyroid hormone level
Decreased response to growth hormone stimulation test
Delayed puberty
Diabetes insipidus
Diabetes mellitus
Elevated circulating thyroid-stimulating hormone concentration
Female hypogonadism
Goiter
Gonadotropin deficiency
Hashimoto thyroiditis
Hypergonadotropic hypogonadism
Hyperthyroidism
Hypogonadism
Hypogonadotropic hypogonadism
Hypoparathyroidism
Hypoplasia of the thymus
Hypothyroidism
Male hypogonadism
Parathyroid hypoplasia
Primary adrenal insufficiency
Thyroiditis
Thyroid lymphangiectasia
Type I diabetes mellitus
Type II diabetes mellitus
Eye
Abnormality of eye movement
Amblyopia
Angioid streaks of the fundus
Anophthalmia
Astigmatism
Band keratopathy
Blepharitis
Blindness
Blue sclerae
Bone spicule pigmentation of the retina
Bull's eye maculopathy
Cataract
Coloboma
Conjunctival hyperemia
Constriction of peripheral visual field
Corneal arcus
Corneal erosion
Corneal neovascularization
Deeply set eye
Developmental cataract
Drusen
Ectopia lentis
Epiphora
Epiretinal membrane
Exotropia
Exudative retinopathy
Glaucoma
High myopia
Horizontal nystagmus
Hypermetropia
Hypertelorism
Hypopigmentation of the fundus
Hypoplasia of the iris
Hypotelorism
Chorioretinal coloboma
Chorioretinal dystrophy
Chorioretinitis
Iris coloboma
Iris hypopigmentation
Iritis
Limbal stem cell deficiency
Macular atrophy
Macular hypoplasia
Marcus Gunn pupil
Microcornea
Microphthalmia
Mydriasis
Myopia
Nyctalopia
Nystagmus
Ocular albinism
Opacification of the corneal stroma
Ophthalmoparesis
Optic atrophy
Optic disc hypoplasia
Optic disc pallor
Optic neuropathy
Papilledema
Perifoveal ring of hyperautofluorescence
Peripheral visual field loss
Photoreceptor layer loss on macular OCT
Pigmentary retinopathy
Progressive visual loss
Proptosis
Ptosis
Punctate opacification of the cornea
Reduced visual acuity
Retinal atrophy
Retinal coloboma
Retinal dystrophy
Retinal pigment epithelial atrophy
Retinal telangiectasia
Ring scotoma
Rod-cone dystrophy
Severely reduced visual acuity
Strabismus
Subconjunctival hemorrhage
Undetectable visual evoked potentials
Unilateral microphthalmos
Visual impairment
Visual loss
Genitourinary system
Abnormality of female external genitalia
Abnormal morphology of female internal genitalia
Abnormal renal corticomedullary differentiation
Abnormal renal morphology
Abnormal spermatogenesis
Absent vas deferens
Acute kidney injury
Amenorrhea
Anuria
Aplasia of the uterus
Azoospermia
Bilateral cryptorchidism
Clitoral hypoplasia
Cryptorchidism
Decreased fertility in females
Decreased testicular size
Diffuse mesangial sclerosis
Duplicated collecting system
Dysuria
Ectopic kidney
Enlarged kidney
External genital hypoplasia
Focal segmental glomerulosclerosis
Genital ulcers
Hemolytic-uremic syndrome
Horseshoe kidney
Hydrocele testis
Hydronephrosis
Hypoplastic female external genitalia
Hypoplastic male external genitalia
Hypospadias
Chronic kidney disease
Irregular menstruation
Labial hypoplasia
Male infertility
Mesangial hypercellularity
Mesangial Immune complex deposition
Micropenis
Microphallus
Multicystic kidney dysplasia
Nephrocalcinosis
Nephropathy
Nephrotic syndrome
Oligomenorrhea
Orchitis
Ovarian cyst
Pelvic kidney
Penile hypospadias
Phimosis
Podocyte foot process effacement
Premature ovarian insufficiency
Reduced renal corticomedullary differentiation
Renal agenesis
Renal cortical microcysts
Renal cyst
Renal duplication
Renal hypoplasia
Renal insufficiency
Shawl scrotum
Stage 5 chronic kidney disease
Testicular atrophy
Tubulointerstitial fibrosis
Unilateral renal agenesis
Urachus fistula
Urethral stenosis
Urethral stricture
Vaginal mucosal ulceration
Varicocele
Vesicoureteral reflux
Growth
Decreased body weight
Disproportionate short stature
Disproportionate tall stature
Failure to thrive
Failure to thrive in infancy
Failure to thrive secondary to recurrent infections
Growth delay
Childhood-onset truncal obesity
Intrauterine growth retardation
Mild postnatal growth retardation
Obesity
Postnatal growth retardation
Rhizomelia
Severe short stature
Short stature
Small for gestational age
Tall stature
Truncal obesity
Weight loss
Head and neck
Abnormal facial shape
Abnormality of the dentition
Abnormality of the mouth
Agenesis of maxillary lateral incisor
Allergic rhinitis
Alveolar bone loss around teeth
Alveolar ridge overgrowth
Ankyloglossia
Anteverted nares
Aphthous ulcer
Bifid uvula
Bilateral choanal atresia
Blepharophimosis
Broad forehead
Broad nasal tip
Bulbous nose
Carious teeth
Cleft palate
Cleft upper lip
Coarse facial features
Concave nasal ridge
Conical incisor
Conical tooth
Conjunctival telangiectasia
Conjunctivitis
Convex nasal ridge
Delayed eruption of teeth
Dental crowding
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Depressed nasal tip
Downslanted palpebral fissures
Epicanthus
Eversion of lateral third of lower eyelids
Everted upper lip vermilion
Eyelid coloboma
Facial asymmetry
Flat face
Fragile teeth
Full cheeks
Furrowed tongue
Geographic tongue
Gingival overgrowth
Gingival recession
Gingivitis
High
High forehead
High palate
Hypodontia
Chemosis
Choanal atresia
Chronic rhinitis due to narrow nasal airway
Chronic sinusitis
Irregular dentition
Keratoconjunctivitis
Lacrimal duct stenosis
Long palpebral fissure
Long philtrum
Loss of facial adipose tissue
Lower eyelid retraction
Low hanging columella
Macrodontia
Macrodontia of permanent maxillary central incisor
Median cleft lip
Median cleft palate
Microcephaly
Microdontia
Midface retrusion
Multiple impacted teeth
Myopathic facies
Narrow face
Narrow forehead
Narrow mouth
Narrow nose
narrow palate
Narrow palate
Narrow palpebral fissure
Nasal congestion
Nasal polyposis
Nasal septum perforation
Nasolacrimal duct obstruction
Natal tooth
Nuchal rigidity
Oligodontia
Open mouth
Oral cleft
Oral leukoplakia
Oral ulcer
Oval face
Parotitis
Periodontitis
Periorbital edema
Persistence of primary teeth
Pointed chin
Premature loss of teeth
Primary microcephaly
Progressive microcephaly
Prominent forehead
Prominent nasal bridge
Prominent nose
Recurrent aphthous stomatitis
Recurrent sinusitis
Round face
Secondary microcephaly
Severe periodontitis
Short columella
Short chin
Short nose
Short palpebral fissure
Short philtrum
Sinusitis
Sloping forehead
Smooth philtrum
Square face
Stomatitis
Supernumerary tooth
Symblepharon
Telecanthus
Thick lower lip vermilion
Thick upper lip vermilion
Thick vermilion border
Thin lower lip vermilion
Thin upper lip vermilion
Tooth malposition
Triangular face
Underdeveloped nasal alae
Underdeveloped supraorbital ridges
Upslanted palpebral fissure
U-Shaped upper lip vermilion
Webbed neck
Wide mouth
Wide nasal bridge
Wide nose
Immunology
Abnormality of complement system
Abscess
Absence of bactericidal oxidative respiratory burst in phagocytes
Absence of lymph node germinal center
Absent peripheral lymph nodes in presence of infection
Allergy
Anterior uveitis
Anticardiolipin IgG antibody positivity
Anti-dsDNA antibody positivity
Anti-glutamic acid decarboxylase antibody positivity
Anti-granulocyte-macrophage colony stimulating factor antibody positivity
Antineutrophil antibody positivity
Antinuclear antibody positivity
Antiphospholipid antibody positivity
Anti-thyroglobulin antibody positivity
Anti-thyroid peroxidase antibody positivity
Autoimmunity
BCGitis
BCGosis
Candida esophagitis
Cellular immunodeficiency
Cervical lymphadenopathy
Combined immunodeficiency
Complement deficiency
Crescentic glomerulonephritis
Cytoplasmic antineutrophil antibody positivity
Decreased circulating C1-esterase inhibitor concentration
Decreased serum complement C3
Decreased serum complement C4
Decreased serum complement C5
Decreased serum complement C6
Decreased serum complement C7
Decreased serum complement C8
Decreased serum complement C9
Decreased serum complement factor B
Decreased serum complement factor H
Decreased serum complement factor I
Defective production of NFKB1-dependent cytokines
Drug allergy
Dysfunctional alternative complement pathway
EBV meningitis
Enlarged mesenteric lymph node
Enlarged tonsils
Enteroviral dermatomyositis syndrome
Eosinophilic granuloma
Epididymitis
Episcleritis
Follicular hyperplasia
Food allergy
Generalized lymphadenopathy
Glomerulonephritis
Granuloma
Chronic active Epstein-Barr virus infection
Chronic noninfectious lymphadenopathy
Chronic otitis media
Chronic tinea infection
Immune dysregulation
Immunodeficiency
Increased circulating interleukin 10 concentration
Increased circulating interleukin 6 concentration
Increased circulating interleukin 8 concentration
Increased inflammatory response
Iridocyclitis
Keratitis
Lupus anticoagulant
Lupus nephritis
Lymphadenitis
Lymphadenopathy
Lymph node hypoplasia
Mandibular osteomyelitis
Membranoproliferative glomerulonephritis
Membranous nephropathy
Methicillin-resistant Staphylococcus aureus infection
Minimal change glomerulonephritis
Neonatal sepsis
Nephritis
Nongranulomatous uveitis
Onychomycosis
Optic neuritis
Otitis media
Panniculitis
Panuveitis
Paratracheal lymphadenopathy
Pericardial lymphangiectasia
Pericarditis
Perinuclear antineutrophil antibody positivity
Persistent human papillomavirus infection
Platelet antibody positive
Pneumocystis carinii pneumonia
Pneumocystis jirovecii pneumonia
Post-vaccination measles
Post-vaccination polio
Prostatitis
Pyelonephritis
Recurrent abscess formation
Recurrent Aspergillus infections
Recurrent bacterial infections
Recurrent Burkholderia cepacia infections
Recurrent E. coli infections
Recurrent enteroviral infections
Recurrent fungal infections
Recurrent gram-negative bacterial infections
Recurrent Haemophilus influenzae infections
Recurrent herpes
Recurrent infections
Recurrent infections in infancy and early childhood
Recurrent Klebsiella infections
Recurrent meningococcal disease
Recurrent mycobacterial infections
Recurrent Neisserial infections
Recurrent opportunistic infections
Recurrent oral herpes
Recurrent otitis media
Recurrent protozoan infections
Recurrent Serratia marcescens infections
Recurrent staphylococcal infections
Recurrent Staphylococcus aureus infections
Recurrent streptococcal infections
Recurrent systemic pyogenic infections
Recurrent tonsillitis
Recurrent urinary tract infections
Recurrent viral infections
Reduced hemolytic complement activity
Rheumatoid factor positive
Sepsis
Serositis
Severe combined immunodeficiency
Severe cytomegalovirus infection
Severe Epstein Barr virus infection
Severe infection
Severe influenza infection
Severe recurrent varicella
Severe T-cell immunodeficiency
Severe varicella zoster infection
Severe viral infection
Smooth muscle antibody positivity
Sterile abscess
Submandibular lymph node enlargement
Systemic lupus erythematosus
Uveitis
Inheritance
Autosomal dominant inheritance
Autosomal recessive inheritance
Digenic inheritance
Genetic anticipation
Polygenic inheritance
Somatic mosaicism
Sporadic
Typified by incomplete penetrance
X-linked dominant inheritance
X-linked inheritance
X-linked recessive inheritance
Limbs
Ankle clonus
Bilateral talipes equinovarus
Hand clenching
Narrow palm
Pes planus
Talipes equinovarus
Metabolism/Laboratory abnormality
AA amyloidosis
Abnormal blood folate concentration
Abnormality of alkaline phosphatase level
Abnormality of chromosome stability
Abnormality of iron homeostasis
Abnormal mitochondrial morphology
Abnormal protein N-linked glycosylation
Abnormal protein O-linked glycosylation
Abnormal vitamin B12 level
Acidosis
Acute phase response
Aminoaciduria
Amyloidosis
Anasarca
Cerebral edema
Cutaneous amyloidosis
Cutaneous macular amyloidosis
Cystoid macular edema
Decreased activity of NADPH oxidase
Decreased circulating copper concentration
Decreased glucose-6-phosphate dehydrogenase level in blood
Decreased HDL cholesterol concentration
Decreased methylcobalamin
Decreased serum creatinine
Decreased serum iron
Deficiency or absence of cytochrome b(-245)
Deficient excision of UV-induced pyrimidine dimers in DNA
Edema
Elevated alpha-fetoprotein
Elevated circulating alanine aminotransferase concentration
Elevated circulating alkaline phosphatase concentration
Elevated circulating amyloid A
Elevated circulating aspartate aminotransferase concentration
Elevated circulating C-reactive protein concentration
Elevated circulating creatine kinase concentration
Elevated circulating creatinine concentration
Elevated CSF neopterin level
Elevated erythrocyte sedimentation rate
Elevated gamma-glutamyltransferase level
Elevated hepatic transaminase
Elevated leukocyte alkaline phosphatase
Facial edema
Fever
Galactosuria
Generalized amyloid deposition
Generalized edema
Glucose intolerance
Heat intolerance
Hematuria
Hemoglobinuria
Hydroxyprolinuria
Hyperammonemia
Hyperbilirubinemia
Hypergalactosemia
Hyperhomocystinemia
Hypercholesterolemia
Hyperimidodipeptiduria
Hyperkalemia
Hypermethioninemia
Hypernatremic dehydration
Hypertriglyceridemia
Hyperuricemia
Hypoalbuminemia
Hypocalcemia
Hypocystinemia
Hypoglycemia
Hypohomocysteinemia
Hypokalemia
Hyponatremia
Hypoproteinemia
Hypouricemia
Chromosomal breakage induced by crosslinking agents
Chromosome breakage
Impaired glucose tolerance
Inappropriate absence of fever
Increased blood urea nitrogen
Increased circulating ferritin concentration
Increased circulating guanosine concentration
Increased circulating inosine concentration
Increased circulating lactate dehydrogenase concentration
Increased CSF interferon alpha
Increased sensitivity to ionizing radiation
Increased serum iron
Increased serum lactate
Insulin resistance
Intermittent lactic acidemia
Lactic acidosis
Laryngeal edema
Lymphedema
Macroscopic hematuria
Metabolic acidosis
Methylmalonic aciduria
Microscopic hematuria
Moderate albuminuria
Neonatal hypoglycemia
Nephrotic range proteinuria
Oroticaciduria
Paroxysmal nocturnal hemoglobinuria
Persistent CMV viremia
Persistent EBV viremia
Persistent viremia
Pharyngeal edema
Pleural effusion
Prolonged G2 phase of cell cycle
Proteinuria
Recurrent fever
Reduced blood folate concentration
Renal amyloidosis
Type II transferrin isoform profile
Unconjugated hyperbilirubinemia
3-Methylglutaconic aciduria
Musculature
Axial hypotonia
Bulbar palsy
Camptodactyly
Difficulty walking
Easy fatigability
Facial hypotonia
Facial palsy
Facial paralysis
Flexion contracture
Foot dorsiflexor weakness
Generalized hypotonia
Gowers sign
Hypertonia
Hypotonia
Infantile muscular hypotonia
Limb hypertonia
Limb muscle weakness
Lower limb spasticity
Macroglossia
Muscle spasm
Muscle stiffness
Muscle weakness
Myopathy
Myositis
Neonatal hypotonia
Poor head control
Progressive spastic quadriplegia
Proximal muscle weakness
Respiratory insufficiency due to muscle weakness
Rigidity
Skeletal muscle atrophy
Skeletal myopathy
Small thenar eminence
Spastic diplegia
Spasticity
Spastic paraplegia
Spastic tetraparesis
Spastic tetraplegia
Tetany
Unilateral facial palsy
Upper limb muscle weakness
Weakness of facial musculature
Neoplasm
Acute lymphoblastic leukemia
Acute myeloid leukemia
Acute myelomonocytic leukemia
Basal cell carcinoma
B-cell lymphoma
Breast carcinoma
Burkitt lymphoma
Carcinoma
Colon cancer
Disseminated cutaneous warts
Endometrial carcinoma
Facial papilloma
Fibroadenoma of the breast
Hamartomatous polyposis
Hepatocellular carcinoma
Hereditary nonpolyposis colorectal carcinoma
Hodgkin lymphoma
Chronic lymphatic leukemia
Kaposi's sarcoma
Leukemia
Lymphoma
Lymphoproliferative disorder
Medulloblastoma
Meningioma
Multiple gastric polyps
Myelodysplasia
Neoplasm of the pancreas
Nephroblastoma
Neuroblastoma
Non-Hodgkin lymphoma
Ovarian carcinoma
Ovarian neoplasm
Renal angiomyolipoma
Squamous cell carcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the tongue
Subcutaneous lipoma
Subcutaneous panniculitis-like T-cell lymphoma
T-cell acute lymphoblastic leukemias
T-cell lymphoma
Thyroid adenoma
Transitional cell carcinoma of the bladder
Verrucae
Verruca plana
Nervous System
Abnormal cerebral white matter morphology
Abnormal CNS myelination
Abnormal cranial nerve morphology
Abnormality of extrapyramidal motor function
Abnormal lower motor neuron morphology
Abnormal periventricular white matter morphology
Abnormal posturing
Abnormal pyramidal sign
Absent septum pellucidum
Absent speech
Agenesis of corpus callosum
Aggressive behavior
Amyotrophic lateral sclerosis
Anosmia
Anxiety
Apathy
Arachnoid cyst
Areflexia
Arrhinencephaly
Ataxia
Athetosis
Attention deficit hyperactivity disorder
Atypical absence seizure
Autism
Autistic behavior
Axonal degeneration
Babinski sign
Behavioral abnormality
Bilateral tonic-clonic seizure
Broad-based gait
Cerebellar atrophy
Cerebellar hypoplasia
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral cortical atrophy
Cerebral vasculitis
Clonus
Clumsiness
CNS demyelination
Cognitive impairment
Colpocephaly
Coma
Cortical myoclonus
Cranial nerve compression
Cranial nerve paralysis
CSF lymphocytic pleiocytosis
CSF pleocytosis
Decreased nerve conduction velocity
Deep white matter hypodensities
Delayed ability to walk
Delayed CNS myelination
Delayed fine motor development
Delayed gross motor development
Delayed myelination
Delayed speech and language development
Demyelinating peripheral neuropathy
Developmental regression
Diffuse white matter abnormalities
Dilatation of the cerebral artery
Disinhibition
Distal sensory impairment
Dural ectasia
Dysarthria
Dysdiadochokinesis
Dyskinesia
Dysmetria
Dysplastic gangliocytoma of the cerebellum
Dystonia
EBV encephalitis
EEG abnormality
EEG with burst suppression
Echolalia
Encephalopathy
Enteroviral encephalitis
Fasciculations
Febrile seizure (within the age range of 3 months to 6 years)
Focal impaired awareness seizure
Focal myoclonic seizure
Frontotemporal dementia
Gait disturbance
Generalized dystonia
Generalized myoclonic seizure
Generalized-onset seizure
Gliosis
Global developmental delay
Gray matter heterotopia
Headache
Hemimegalencephaly
Hemiplegia
Hepatic encephalopathy
Herpes simplex encephalitis
Holoprosencephaly
Hydrocephalus
Hyperactive deep tendon reflexes
Hyperactivity
Hyperreflexia
Hypoesthesia
Hypoplasia of the corpus callosum
Hypoplastic hippocampus
Hyporeflexia
Hypsarrhythmia
Chiari malformation
Chiari type I malformation
Chorea
Choreoathetosis
Chronic CSF lymphocytosis
Chronic lymphocytic meningitis
Impaired distal tactile sensation
Impaired vibration sensation in the lower limbs
Impaired vibratory sensation
Inability to walk
Infectious encephalitis
Intellectual disability
Intention tremor
Irritability
Ischemic stroke
Language impairment
Lateral ventricle dilatation
Leg dystonia
Lethargy
Leukodystrophy
Leukoencephalopathy
Loss of ambulation
Loss of speech
Meningitis
Mental deterioration
Migraine
mild
Mild global developmental delay
Morphological abnormality of the pyramidal tract
Motor delay
Mutism
Myoclonic seizure
Myoclonus
Neurodegeneration
Neurodevelopmental abnormality
Neurodevelopmental delay
Obsessive-compulsive behavior
Oculogyric crisis
Optic nerve hypoplasia
Pachygyria
Paralysis
Paraplegia
Peripheral axonal neuropathy
Peripheral neuropathy
Personality changes
Photophobia
Polymicrogyria
Polyneuropathy
profound
progressive
Progressive cerebellar ataxia
Progressive encephalopathy
Progressive neurologic deterioration
Progressive peripheral neuropathy
Psychotic episodes
Recurrent meningitis
Reduced tendon reflexes
Seizure
Self-mutilation
severe
Severe global developmental delay
Schizencephaly
Slurred speech
Somatic sensory dysfunction
Specific learning disability
Spina bifida occulta
Status epilepticus
Stroke
Tetraparesis
Tetraplegia
Thick corpus callosum
Transient ischemic attack
Tremor
Unsteady gait
Ventriculomegaly
Waddling gait
Prenatal and Birth
Abnormalities of placenta or umbilical cord
Amniotic constriction ring
Caesarian section
Congenital pulmonary airway malformation
Decreased fetal movement
Delayed umbilical cord separation
Fetal distress
Large placenta
Neonatal omphalitis
Oligohydramnios
Placental abruption
Polyhydramnios
Premature birth
Premature rupture of membranes
Single umbilical artery
Respiratory System
Abnormal bronchus physiology
Abnormal lung lobation
Abnormal pulmonary interstitial morphology
Abnormal tracheal morphology
Acute respiratory distress syndrome
Air bronchogram
Apnea
Aspiration pneumonia
Asthma
Atelectasis
Bronchiectasis
Bronchiolitis
Bronchiolitis obliterans
Cough
Decreased DLCO
Desquamative interstitial pneumonitis
Dyspnea
Emphysema
Exertional dyspnea
Ground-glass opacification
Hemosiderin-laden macrophages in bronchoalveolar fluid
Hypoventilation
Hypoxemia
Chronic bronchitis
Chronic lung disease
Chronic pulmonary obstruction
Interlobular septal thickening
Interstitial pneumonitis
Intraalveolar phospholipid accumulation
Laryngomalacia
Lymphocytic interstitial pneumonia
Neonatal respiratory distress
Pleuritis
Pneumonia
Pulmonary arterial hypertension
Pulmonary artery aneurysm
Pulmonary artery atresia
Pulmonary artery stenosis
Pulmonary embolism
Pulmonary fibrosis
Pulmonary infiltrates
Pulmonary interstitial lymphocyte infiltration
Recurrent bronchiolitis
Recurrent bronchitis
Recurrent bronchopulmonary infections
Recurrent lower respiratory tract infections
Recurrent pharyngitis
Recurrent pneumonia
Recurrent respiratory infections
Recurrent sinopulmonary infections
Recurrent streptococcus pneumoniae infections
Recurrent upper and lower respiratory tract infections
Recurrent upper respiratory tract infections
Recurrent viral upper respiratory tract infections
Reduced forced expiratory volume in one second
Reduced forced vital capacity
Respiratory distress
Respiratory failure
Respiratory insufficiency
Respiratory tract infection
Restrictive ventilatory defect
Spontaneous pneumothorax
Subglottic stenosis
Tachypnea
Wheezing
Skeletal system
Abnormal pelvic girdle bone morphology
Abnormal radial ray morphology
Abnormal rib morphology
Abnormal sternum morphology
Abnormal thumb morphology
Abnormal vertebral morphology
Absent distal phalanges
Absent radius
Absent scaphoid
Absent thumb
Absent tibia
Acetabular dysplasia
Anterior rib cupping
Anterior wedging of T12
Aplasia of the 1st metacarpal
Arachnodactyly
Arthritis
Arthropathy
Avascular necrosis
Avascular necrosis of the capital femoral epiphysis
Barrel-shaped chest
Basal ganglia calcification
Bifid femur
Bilateral radial aplasia
Bowing of the long bones
Brachydactyly
Broad hallux
Broad ribs
Broad thumb
Calvarial osteosclerosis
Cerebellar calcifications
Cerebral calcification
Cervical instability
Cervical spine instability
Clinodactyly
Clinodactyly of the 5th finger
Clubbing
Clubbing of fingers
Complete duplication of thumb phalanx
Cone-shaped epiphysis
Congenital hip dislocation
Coronal craniosynostosis
Cortical sclerosis of the iliac wing
Coxa valga
Coxa vara
Cranial hyperostosis
Craniosynostosis
Cubitus valgus
Cutaneous finger syndactyly
Decreased osteoclast count
Delayed ossification of carpal bones
Delayed skeletal maturation
Dense metaphyseal bands
Diaphyseal sclerosis
Dislocated radial head
Disproportionate short-trunk short stature
Dolichocephaly
Down-sloping shoulders
Duplication of thumb phalanx
Enlargement of the costochondral junction
Epiphyseal dysplasia
Erlenmeyer flask deformity of the femurs
Femoral retroversion
Femur fracture
Finger joint hypermobility
Finger swelling
Flared metaphysis
Flaring of rib cage
Flat occiput
Frontal bossing
Fused cervical vertebrae
Generalized joint laxity
Genu valgum
Genu varum
Gout
Growth arrest lines
Hallux valgus
Hand monodactyly
Hand polydactyly
Hemivertebrae
Hip dislocation
Hip subluxation
Horizontal inferior border of scapula
Hypoplasia of the capital femoral epiphysis
Hypoplasia of the femoral head
Hypoplasia of the maxilla
Hypoplasia of the radius
Hypoplasia of the ulna
Hypoplastic iliac wing
Hypoplastic ischia
Hypoplastic sacrum
Hypoplastic scapulae
Increased bone mineral density
Increased intervertebral space
Increased susceptibility to fractures
Increased vertebral height
Intracerebral periventricular calcifications
Irregular epiphyses
Irregular ossification at anterior rib ends
Irregular vertebral endplates
Jaw swelling
Joint dislocation
Joint hypermobility
Joint laxity
Joint stiffness
Joint swelling
Juvenile rheumatoid arthritis
Kyphoscoliosis
Kyphosis
Lateral displacement of the femoral head
Limited elbow extension
Long fingers
Lumbar hyperlordosis
Macrocephaly
Malar flattening
Mandibular prognathia
Mastoiditis
Metaphyseal dysplasia
Metaphyseal chondrodysplasia
Metaphyseal irregularity
Metaphyseal sclerosis
Metaphyseal striations
Metaphyseal widening
Micrognathia
Missing ribs
Multiple epiphyseal dysplasia
Multiple joint dislocation
Narrow greater sciatic notch
Narrow chest
Oligoarthritis
Osteolysis
Osteolytic defects of the phalanges of the hand
Osteomyelitis
Osteopenia
Osteopetrosis
Osteoporosis
Overlapping fingers
Ovoid vertebral bodies
Partial duplication of thumb phalanx
Patellar overgrowth
Pathologic fracture
Pectus carinatum
Pectus excavatum
Periostitis
Platyspondyly
Polyarticular arthritis
Polydactyly
Postaxial hand polydactyly
Postaxial polydactyly
Preaxial hand polydactyly
Progressive macrocephaly
Prominent occiput
Protrusio acetabuli
Proximal femoral epiphysiolysis
Proximal femoral metaphyseal irregularity
Proximal placement of thumb
Radial club hand
Radial head subluxation
Recurrent fractures
Reduced bone mineral density
Relative macrocephaly
Retrognathia
Rheumatoid arthritis
Rocker bottom foot
Salmonella osteomyelitis
Sandal gap
Sandwich appearance of vertebral bodies
Scaphocephaly
Sclerosis of skull base
Scoliosis
Septic arthritis
Shallow acetabular fossae
Short femoral neck
Short foot
Short iliac bones
Short metacarpal
Short metatarsal
Short middle phalanx of finger
Short neck
Short palm
Short phalanx of finger
Short thumb
Short toe
Short 1st metacarpal
Short 5th finger
Slender finger
Slender long bone
Small epiphyses
Small hand
Spinal canal stenosis
Spondyloepiphyseal dysplasia
Spondylolisthesis
Spondylometaphyseal dysplasia
Squared iliac bones
Sterile arthritis
Syndactyly
Synovitis
Tapered finger
Tapering pointed ends of distal finger phalanges
Tendonitis
Thin bony cortex
Thin ribs
Thoracic kyphoscoliosis
Thoracic kyphosis
Thoracic scoliosis
Thoracolumbar kyphosis
Thoracolumbar scoliosis
Tibial torsion
Trigonocephaly
Turricephaly
Wide anterior fontanel
Wormian bones
2-3 finger syndactyly
Skin, Hair, and Nails
Aberrant melanosome maturation
Abnormal eyelash morphology
Abnormal hair morphology
Abnormality of skin pigmentation
Abnormal palmar dermatoglyphics
Acanthosis nigricans
Accumulation of melanosomes in melanocytes
Acne
Acne inversa
Acral blistering
Acrocyanosis
Acrokeratosis
Albinism
Alopecia
Alopecia of scalp
Alopecia totalis
Alopecia universalis
Anemic pallor
Angioedema
Anhidrosis
Anhidrotic ectodermal dysplasia
Aplasia/Hypoplasia of the eyebrow
Aplasia of the sweat glands
Atopic dermatitis
Atrophic scars
Atypical scarring of skin
Bilateral single transverse palmar creases
Brittle hair
Brittle scalp hair
Broad eyebrow
Bruising susceptibility
Cafe-au-lait spot
Coarse hair
Cold urticaria
Congenital nonbullous ichthyosiform erythroderma
Congenital palmoplantar hyperkeratosis
Crusting erythematous dermatitis
Curly hair
Cutaneous abscess
Cutaneous photosensitivity
Cutis laxa
Cutis marmorata
Cystic acne
Deep dermatophytosis
Dermal atrophy
Dermal translucency
Dermatographic urticaria
Diffuse skin atrophy
Diffuse telangiectasia
Discoid lupus rash
Disseminated molluscum contagiosum
Dry skin
Ectodermal dysplasia
Eczema
Eczematoid dermatitis
Epidermal acanthosis
Erysipelas
Erythema
Erythema nodosum
Erythematous macule
Erythroderma
Facial erythema
Facial hirsutism
Facial telangiectasia
Facial telangiectasia in butterfly midface distribution
Fair hair
Fine hair
Follicular hyperkeratosis
Folliculitis
Fragile nails
Fragile skin
Frontal upsweep of hair
Generalized hypopigmentation
Generalized reticulate brown pigmentation
Generalized seborrheic dermatitis
Giant melanosomes in melanocytes
High anterior hairline
Highly arched eyebrow
Hirsutism
Hyperextensible skin
Hyperhidrosis
Hyperkeratosis
Hypermelanotic macule
Hyperpigmentation of the skin
Hypertrichosis
Hypertrichotic hyperpigmented patch
Hypohidrosis
Hypopigmentation of hair
Hypopigmentation of the skin
Hypopigmented macule
Hypopigmented skin patches on arms
Chilblains
Chronic furunculosis
Chronic mucocutaneous candidiasis
Chronic oral candidiasis
Ichthyosis
Inflammatory abnormality of the skin
Intermittent generalized erythematous papular rash
Keratosis pilaris
Lack of skin elasticity
Linear IgG deposits along the epidermal basement membrane zone
Livedo
Livedo racemosa
Livedo reticularis
Long eyelashes
Low anterior hairline
Lower lip pit
Low posterior hairline
Macule
Maculopapular exanthema
Malar rash
Melanin pigment aggregation in hair shafts
Molluscum contagiosum
Multiple cafe-au-lait spots
Nail dysplasia
Nail dystrophy
Nailfold capillary tortuosity
Nail pits
Onychogryposis
Pallor
Palmar pits
Palmoplantar cutis laxa
Palmoplantar hyperkeratosis
Palmoplantar keratoderma
Parakeratosis
Paronychia
Patchy alopecia
Perianal abscess
Perianal erythema
Perifolliculitis
Perioral eczema
Perioral erythema
Periungual erythema
Petechiae
Plantar hyperkeratosis
Poikiloderma
Poor wound healing
Premature graying of hair
Progeroid facial appearance
Prominent fingertip pads
Prominent superficial veins
Pruritus
Psoriasiform dermatitis
Psoriasiform lesion
Pterygium
Pterygium of nails
Purpura
Pustular rash
Pustule
Pyoderma
Pyoderma gangrenosum
Recurrent bacterial skin infections
Recurrent cutaneous abscess formation
Recurrent cutaneous fungal infections
Recurrent skin infections
Reticular hyperpigmentation
Reticulated skin pigmentation
Ridged nail
Sacral dimple
Scaling skin
Scleroderma
Seborrheic dermatitis
Silver-gray hair
Single transverse palmar crease
Skin plaque
Skin rash
Skin tags
Skin ulcer
Small nail
Soft skin
Sparse axillary hair
Sparse eyebrow
Sparse eyelashes
Sparse hair
Sparse lateral eyebrow
Sparse scalp hair
Split nail
Spotty hyperpigmentation
Spotty hypopigmentation
Stiff skin
Striae distensae
Subcutaneous nodule
Synophrys
Telangiectases of the cheeks
Telangiectasia
Telangiectasia of the skin
Thickened skin
Thick eyebrow
Thin skin
Trachyonychia
Trichorrhexis nodosa
Uncombable hair
Urticaria
Vasculitis in the skin
Vitiligo
White forelock
Widow's peak
Woolly hair
Thoracic cavity
Mediastinal lymphadenopathy
Voice
High pitched voice
Hoarse voice
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