depressive disorder
drug-induced liver injury
mercury poisoning
necrosis
neoplasms
anemia, hemolytic
attention deficit and disruptive behavior disorders
autistic disorder
cognition disorders
cystitis
heavy metal toxicity
hemolysis
hypertension
lead poisoning
learning disorders
lung injury
micronuclei, chromosome-defective
pneumonia
anxiety disorders
ataxia
autoimmune diseases
brain diseases
brain edema
brain injuries
cardiomyopathies
craniofacial abnormalities
death
disease models, animal
drug toxicity
epilepsy
epilepsy, absence
fetal growth retardation
hyperkinesis
hypersensitivity, delayed
kidney diseases
lead poisoning, nervous system
memory disorders
movement disorders
myoclonus
nerve degeneration
prenatal exposure delayed effects
reflex, abnormal
seizures
splenomegaly
status epilepticus
weight loss
carcinoma
liver neoplasms, experimental
melanoma
prostatic neoplasms
respiratory distress syndrome, adult
urinary bladder neoplasms
abnormalities, drug-induced
abnormalities, multiple
acne vulgaris
activated protein c resistance
acute kidney injury
adenocarcinoma
adenoma, liver cell
adrenal insufficiency
adrenocortical hyperfunction
albuminuria
alcoholism
alopecia
amenorrhea
amnesia
anemia
anemia, iron-deficiency
anemia, macrocytic
aneuploidy
angioedema
anorexia
arrhythmias, cardiac
arterial occlusive diseases
arteriosclerosis
arthritis, experimental
asthenozoospermia
atherosclerosis
atrial septal defect 2
atrophy
attention deficit disorder with hyperactivity
biliary dyskinesia
birth weight
blood coagulation disorders
body weight changes
bone diseases
bone diseases, developmental
bone marrow diseases
bone resorption
brain ischemia
breast diseases
breast neoplasms
bronchial hyperreactivity
budd-chiari syndrome
cadmium poisoning
candidiasis, vulvovaginal
carcinoma, endometrioid
carcinoma, hepatocellular
carcinoma in situ
cardiomegaly
cardiomyopathy, hypertrophic
cardiovascular abnormalities
cardiovascular diseases
carotid artery thrombosis
catalepsy
cell transformation, neoplastic
cerebral hemorrhage
cerebral infarction
child behavior disorders
chloracne
cholangiocarcinoma
choledochal cyst
cholestasis
cholestasis, intrahepatic
chromosome aberrations
chronobiology disorders
cleft lip
cleft palate
cocaine-related disorders
colitis
congenital abnormalities
congenital, hereditary, and neonatal diseases and abnormalities
coronary artery disease
coronary occlusion
coxsackievirus infections
cystadenoma
cysts
diabetes mellitus, type 1
diabetes mellitus, type 2
diabetic nephropathies
diarrhea
disorders of sex development
disseminated intravascular coagulation
dizziness
drug hypersensitivity
dyslipidemias
dysmenorrhea
dysostoses
dyspepsia
dysuria
ear neoplasms
eating disorders
ebstein anomaly
ectrodactyly
edema
edema, cardiac
embryo loss
encephalomyelitis, autoimmune, experimental
endometrial neoplasms
endometriosis
epstein-barr virus infections
eye abnormalities
eye diseases
fatigue
fatty liver
feminization
fetal death
fetal diseases
fibrosis
folic acid deficiency
gallbladder diseases
gallbladder neoplasms
gallstones
genital diseases, female
genital diseases, male
glucose intolerance
glucose metabolism disorders
glycosuria
gonadal disorders
growth disorders
gynecomastia
hamartoma
hashimoto&apos;s encephalitis
headache
hearing disorders
heart defects, congenital
heart diseases
heart failure
heart septal defects, ventricular
hematuria
hemorrhage
hepatomegaly
herpes genitalis
hirsutism
hot flashes
hydronephrosis
hyperalgesia
hyperglycemia
hyperlipidemias
hyperplasia
hyperprolactinemia
hypertension, malignant
hypertension, renovascular
hyperthyroidism
hypertriglyceridemia
hypertrophy
hypertrophy, left ventricular
hypocalcemia
hypokinesia
hypospadias
immune system diseases
immunologic deficiency syndromes
infant, newborn, diseases
infertility
infertility, female
infertility, male
inflammation
insulin resistance
intestinal diseases
intestinal neoplasms
intracranial embolism and thrombosis
intracranial hemorrhages
iron overload
jaundice, obstructive
jaw abnormalities
keratitis, herpetic
kidney neoplasms
lactation disorders
leiomyoma
liver cirrhosis, experimental
liver diseases
liver neoplasms
lung diseases
lung neoplasms
lupus erythematosus, systemic
lymphatic diseases
lymphoma
lymphopenia
mammary neoplasms, animal
mammary neoplasms, experimental
manganese poisoning
medulloblastoma
melanosis
mesothelioma
metaplasia
metrorrhagia
microcephaly
mood disorders
musculoskeletal abnormalities
myocardial infarction
myocardial ischemia
myocardial reperfusion injury
myocarditis
nausea
neoplasm invasiveness
neoplasm metastasis
neoplasms, experimental
neovascularization, pathologic
nephritis
nervous system diseases
nervous system malformations
neural tube defects
neuronal migration disorders
neurotoxicity syndromes
olfaction disorders
oligospermia
osteoporosis, postmenopausal
ovarian cysts
ovarian diseases
ovarian neoplasms
pain
pancreatic neoplasms
panic disorder
paralysis
parkinson disease
peanut hypersensitivity
peliosis hepatis
pericardial effusion
pigmentation disorders
pituitary diseases
pituitary neoplasms
placenta diseases
pneumococcal infections
poisoning
polycystic ovary syndrome
polyuria
porphyria cutanea tarda
porphyrias, hepatic
precancerous conditions
pre-eclampsia
premature birth
prenatal injuries
prolactinoma
prostatic diseases
prostatic hyperplasia
prostatic intraepithelial neoplasia
prostatitis
proteinuria
pruritus
psychotic disorders
puberty, delayed
puberty, precocious
pulmonary embolism
pyelonephritis
respiratory system abnormalities
salivary gland diseases
sarcoma
scoliosis
sexual and gender disorders
sinus thrombosis, intracranial
skin diseases
skin neoplasms
skin ulcer
sleep initiation and maintenance disorders
somatosensory disorders
spermatocele
streptococcal infections
stroke
substance-related disorders
substance withdrawal syndrome
tachycardia
tachycardia, ventricular
taste disorders
testicular diseases
tetany
thromboangiitis obliterans
thromboembolism
thrombophilia
thrombophlebitis
thrombosis
thyroid diseases
tibial fractures
torsades de pointes
tricuspid atresia
ureteral obstruction
urethral stricture
urinary bladder calculi
urinary retention
urination disorders
urogenital abnormalities
uterine cervical neoplasms
uterine diseases
uterine hemorrhage
uterine neoplasms
vaginal diseases
vascular malformations
vasospasm, intracranial
venous thromboembolism
venous thrombosis
ventricular dysfunction
ventricular dysfunction, left
ventricular fibrillation
vestibular diseases
vision disorders
vomiting
wasting syndrome
weight gain
xanthomatosis
abortion, spontaneous
bone neoplasms
brain infarction
congenital diaphragmatic hernia
eosinophilia
exanthema
fanconi syndrome
fibromatosis, aggressive
gastrointestinal neoplasms
gastrointestinal stromal tumors
glioma
glomerulonephritis
hearing loss, sensorineural
hepatitis
hepatitis, autoimmune
hypophosphatemia
leukemia, experimental
leukemia, myelogenous, chronic, bcr-abl positive
leukemia, myeloid
lichenoid eruptions
liver cirrhosis
liver failure, acute
muscle cramp
muscular dystrophy, animal
neoplasms, hormone-dependent
neuroectodermal tumors, primitive, peripheral
osteolysis
osteopetrosis
peripheral nervous system diseases
precursor cell lymphoblastic leukemia-lymphoma
purpura
renal insufficiency
small cell lung carcinoma
stomach neoplasms
thrombocythemia, essential
thyroid neoplasms
vasculitis
aberrant crypt foci
angina pectoris
anoxia
antisocial personality disorder
aortic aneurysm
burns
cerebrovascular disorders
child development disorders, pervasive
colonic neoplasms
coronary disease
cryptorchidism
depressive disorder, major
diabetes mellitus, experimental
diabetic angiopathies
diabetic neuropathies
dyskinesia, drug-induced
dysthymic disorder
dystocia
epilepsies, myoclonic
erectile dysfunction
fetal nutrition disorders
firesetting behavior
glioblastoma
glomerulosclerosis, focal segmental
hiv wasting syndrome
hyperandrogenism
hypercholesterolemia
hyperinsulinism
hyperphagia
hypoglycemia
hypogonadism
hypopituitarism
hypotension
impulse control disorders
klinefelter syndrome
leydig cell tumor
lithiasis
lymphoma, non-hodgkin
malaria
melanoma, experimental
mental disorders
metabolic syndrome x
muscular atrophy
nephritis, interstitial
non-alcoholic fatty liver disease
obesity
plaque, atherosclerotic
polycythemia
reperfusion injury
salivary gland neoplasms
sebaceous gland neoplasms
sexual dysfunction, physiological
sexual dysfunctions, psychological
shock, hemorrhagic
shock, traumatic
sleep apnea, obstructive
splenic diseases
stomach diseases
varicocele
vascular calcification
virilism
voice disorders
abdomen, acute
abdominal pain
abruptio placentae
accelerated idioventricular rhythm
acid-base imbalance
acidosis
acute coronary syndrome
agoraphobia
agranulocytosis
aids dementia complex
akathisia, drug-induced
alveolitis, extrinsic allergic
anaphylaxis
aneurysm
aneurysm, dissecting
aneurysm, ruptured
angina, unstable
anisocoria
anterior spinal artery syndrome
anterior wall myocardial infarction
anti-glomerular basement membrane disease
anuria
aortic diseases
aortic rupture
aphasia
apnea
arthralgia
arthritis
asthma
athetosis
atresia of small intestine
atrial fibrillation
atrial flutter
atrioventricular block
auditory perceptual disorders
autonomic nervous system diseases
basal ganglia cerebrovascular disease
basal ganglia diseases
basal ganglia hemorrhage
bipolar disorder
blindness
blood platelet disorders
botulism
bradycardia
brain damage, chronic
brain stem infarctions
bronchial diseases
bronchial spasm
bronchiolitis obliterans
brown-sequard syndrome
bundle-branch block
cardiac complexes, premature
cardiomyopathy, dilated
carotid artery, internal, dissection
catatonia
cellulitis
central nervous system cysts
central nervous system diseases
cerebellar diseases
chest pain
chills
chorea
churg-strauss syndrome
cluster headache
colitis, ischemic
colonic diseases
color vision defects
coma
compartment syndromes
confusion
constriction, pathologic
coronary aneurysm
coronary stenosis
coronary thrombosis
coronary vasospasm
cough
cranial nerve diseases
cryoglobulinemia
death, sudden
death, sudden, cardiac
deglutition disorders
delirium
demyelinating diseases
developmental disabilities
diabetes insipidus
disorders of excessive somnolence
drug eruptions
dyspnea
dystonia
emphysema
encephalomalacia
encephalomyelitis, acute disseminated
endarteritis
endocarditis
endophthalmitis
enteritis
enterocolitis
epilepsy, tonic-clonic
epistaxis
exophthalmos
eye hemorrhage
eyelid diseases
facial injuries
facial pain
fetal distress
fetal membranes, premature rupture
fever
fibromuscular dysplasia
finger injuries
fistula
flank pain
gastroenteritis
gastrointestinal hemorrhage
gastroschisis
gingival diseases
gingival recession
granuloma
granuloma, foreign-body
granuloma, lethal midline
hallucinations
hearing loss
hearing loss, bilateral
hearing loss, sudden
heart arrest
heart rupture, post-infarction
heart septal defects, atrial
heart valve diseases
heat stroke
helicobacter infections
hematoma
hematoma, epidural, spinal
hematoma, subdural
hematoma, subdural, acute
hemolytic-uremic syndrome
hemoperitoneum
hepatic encephalopathy
heroin dependence
hiv infections
hydranencephaly
hyperammonemia
hypercalcemia
hyperkalemia
hypertension, pulmonary
hypertensive encephalopathy
hypesthesia
hyphema
hypokalemia
hypokalemic periodic paralysis
hypothermia
hypothyroidism
hypoxia, brain
hypoxia-ischemia, brain
iliac aneurysm
infant, premature, diseases
infarction
infarction, posterior cerebral artery
infection
intestinal obstruction
intracranial arterial diseases
intracranial thrombosis
intraoperative complications
intussusception
ischemia
ischemic attack, transient
jaundice
keratitis
kidney failure, chronic
kidney tubular necrosis, acute
kleeblattschaedel syndrome
labyrinth diseases
lacrimal duct obstruction
language development disorders
laryngeal diseases
laryngeal edema
lateral medullary syndrome
lethargy
leukocytosis
leukoencephalopathies
leukoencephalopathy, progressive multifocal
limb deformities, congenital
lip diseases
liver failure
long qt syndrome
low back pain
lung diseases, interstitial
magnesium deficiency
meconium aspiration syndrome
mediastinal emphysema
meningitis
mental disorders diagnosed in childhood
mesenteric vascular disease
mesenteric vascular occlusion
migraine disorders
mitral valve insufficiency
mobius syndrome
mononeuropathies
motor skills disorders
mouth abnormalities
mouth diseases
moyamoya disease
multiple organ failure
muscle hypertonia
muscle rigidity
muscle spasticity
muscle weakness
mutism
myasthenia gravis
mydriasis
myocardial stunning
nasal obstruction
neonatal abstinence syndrome
neoplasms, fibrous tissue
neurobehavioral manifestations
neuroleptic malignant syndrome
neuromuscular diseases
neutropenia
nose deformities, acquired
nose diseases
nose neoplasms
obsessive-compulsive disorder
obstetric labor, premature
ocular motility disorders
ophthalmoplegia
optic nerve diseases
oral fistula
orbital cellulitis
orbital diseases
osteomyelitis
osteonecrosis
pancreatitis
panniculitis
papilledema
paranasal sinus diseases
paranoid disorders
paresis
paresthesia
peptic ulcer perforation
periodontal diseases
peripheral vascular diseases
peritonitis
personality disorders
photosensitivity disorders
placenta accreta
pneumopericardium
pneumothorax
poland syndrome
postoperative complications
pregnancy complications
pregnancy complications, cardiovascular
pregnancy complications, hematologic
priapism
psychomotor agitation
psychomotor disorders
psychoses, substance-induced
puerperal disorders
pulmonary arterial hypertension
pulmonary edema
pulmonary emphysema
pulmonary infarction
pupil disorders
purpura, schoenlein-henoch
purpura, thrombotic thrombocytopenic
putaminal hemorrhage
pyoderma gangrenosum
quadriplegia
raynaud disease
reactive attachment disorder
reflex sympathetic dystrophy
renal artery obstruction
respiration disorders
respiratory distress syndrome, newborn
respiratory insufficiency
respiratory tract fistula
retinal artery occlusion
retinal diseases
retroperitoneal fibrosis
rhabdomyolysis
rhinitis
schizophrenia
scleroderma, systemic
scotoma
self mutilation
sensation disorders
shock
shock, cardiogenic
sialometaplasia, necrotizing
sialorrhea
sinoatrial block
sinus arrest, cardiac
sinusitis
skin diseases, vascular
sleep deprivation
sleep disorders
spasm
speech disorders
spinal cord ischemia
splenic infarction
stereotypic movement disorder
stomach ulcer
stomatognathic diseases
strabismus
subarachnoid hemorrhage
subcutaneous emphysema
sudden infant death
syncope
syphilis, congenital
systemic vasculitis
tachycardia, sinus
tachycardia, supraventricular
takotsubo cardiomyopathy
temporomandibular joint disorders
temporomandibular joint dysfunction syndrome
thrombocytopenia
thrombocytosis
tic disorders
tooth erosion
torticollis
tremor
trichotillomania
ulcer
unconsciousness
upper extremity deformities, congenital
urinary incontinence
uterine rupture
vascular diseases
vascular headaches
vasculitis, central nervous system
venous insufficiency
vertebrobasilar insufficiency
wegener granulomatosis
xerostomia
cerebral palsy
dementia
mercury poisoning, nervous system
nephrosis
neurologic manifestations
trauma, nervous system
adenocarcinoma of lung
adenocarcinoma, papillary
adenoma
adenoma, bile duct
ageusia
agricultural workers&apos; diseases
alcohol withdrawal delirium
alzheimer disease
amblyopia
anemia, aplastic
anemia, hemolytic, autoimmune
anemia, megaloblastic
anemia, sickle cell
anemia, sideroblastic
anencephaly
anus neoplasms
aortic aneurysm, abdominal
arthritis, psoriatic
astrocytoma
brain neoplasms
carcinoma, renal cell
carcinoma, squamous cell
cataract
central nervous system neoplasms
cerebellar ataxia
chromosome breakage
colorectal neoplasms
corneal opacity
coronary restenosis
diabetes mellitus
ectodermal dysplasia
endometrial hyperplasia
esophageal achalasia
esophageal neoplasms
exfoliation syndrome
fatty liver, alcoholic
fibrosarcoma
flushing
gastritis
gastrointestinal diseases
genital neoplasms, male
genomic instability
glaucoma
glycosylphosphatidylinositol deficiency
hemangioma
hematologic diseases
hepatoblastoma
histiocytoma, malignant fibrous
hiv seropositivity
hydrocephalus
hyperhomocysteinemia
laryngeal neoplasms
leukemia
leukemia, myeloid, acute
leukemic infiltration
lice infestations
lower extremity deformities, congenital
lymphoma, b-cell
lymphoma, t-cell
lymphoproliferative disorders
malaria, falciparum
maxillofacial abnormalities
meningioma
microsatellite instability
mouth neoplasms
mucositis
multiple chemical sensitivity
muscular diseases
nasopharyngeal neoplasms
neurilemmoma
neurodegenerative diseases
occupational diseases
oligodendroglioma
osteomalacia
osteoporosis
papilloma
pharyngeal neoplasms
polyneuropathies
psoriasis
psychophysiologic disorders
retinal degeneration
retinoblastoma
scabies
spinal cord diseases
spinal dysraphism
sprue, tropical
thymus neoplasms
tongue neoplasms
toxoplasmosis
uremia
wilms tumor
abdominal neoplasms
acidosis, lactic
acidosis, respiratory
acrodynia
acute disease
acute lung injury
adenoma, islet cell
adrenal gland neoplasms
alcohol-related disorders
alkalosis
amnesia, retrograde
anisometropia
apraxias
arnold-chiari malformation
arteritis
ascites
astigmatism
ataxia telangiectasia
back pain
blindness, cortical
bone diseases, metabolic
brain diseases, metabolic
breast neoplasms, male
camptocormia
carcinoma, ductal, breast
carcinoma, non-small-cell lung
carcinoma, pancreatic ductal
carcinoma, transitional cell
cardiovirus infections
cartilage diseases
cecal diseases
cholecystitis
cholelithiasis
choroid diseases
conduct disorder
consciousness disorders
corneal diseases
craniosynostoses
cystic fibrosis
dandy-walker syndrome
dermatitis
dermatitis, allergic contact
dermatitis, atopic
dermatitis, irritant
dermatofibrosarcoma
dermatomyositis
diabetes complications
diabetic cardiomyopathies
diabetic ketoacidosis
diabetic retinopathy
double outlet right ventricle
drug overdose
dysarthria
dyskinesias
dyspareunia
dysphonia
ear diseases
embolism
embolism, fat
endocardial cushion defects
endocrine system diseases
enuresis
epidermal necrolysis, toxic
epilepsies, partial
epilepsy, complex partial
epilepsy, generalized
epilepsy, reflex
epilepsy, rolandic
epilepsy, temporal lobe
erythema multiforme
esophagitis, peptic
essential tremor
female urogenital diseases
fetal resorption
fibroadenoma
fibromatosis, abdominal
gait ataxia
gait disorders, neurologic
glaucoma, angle-closure
glomerulonephritis, membranous
gout
granulosa cell tumor of the ovary
hair diseases
hemorrhagic disorders
hepatitis, chronic
hernia
hyperemia
hypergammaglobulinemia
hyperlipidemia, familial combined
hyperlipoproteinemias
hyperlipoproteinemia type ii
hyperlipoproteinemia type iv
hyperoxaluria
hypersensitivity
hypertelorism
hyperuricemia
hyponatremia
hypoplastic left heart syndrome
immunoproliferative disorders
inappropriate adh syndrome
influenza, human
intellectual disability
intracranial embolism
intracranial hypertension
keloid
ketosis
leukopenia
lipid metabolism disorders
lipidoses
lipomyelomeningocele
lupus erythematosus, cutaneous
lymphangiectasis, intestinal
lymphoma, t-cell, cutaneous
macular edema
malformations of cortical development
massive hepatic necrosis
melanoma, amelanotic
melas syndrome
meningocele
meningomyelocele
micrognathism
migraine with aura
migraine without aura
mitochondrial diseases
mitochondrial myopathies
mixed tumor, mullerian
multiple myeloma
muscle hypotonia
musculoskeletal diseases
myelodysplastic syndromes
myoclonic epilepsy, juvenile
myoglobinuria
myositis
neoplasm recurrence, local
nephrosis, lipoid
nephrotic syndrome
nerve sheath neoplasms
neurogenic bowel
neurogenic inflammation
neuromuscular manifestations
niemann-pick disease, type c
nocturnal enuresis
nystagmus, congenital
nystagmus, pathologic
optic neuritis
pain, postoperative
pancreatic pseudocyst
pancytopenia
panniculitis, peritoneal
papillomavirus infections
parkinson disease, secondary
parkinsonian disorders
pericarditis
pheochromocytoma
pleural effusion
pleural neoplasms
poems syndrome
polymyositis
porphyria, acute intermittent
postoperative hemorrhage
protein deficiency
pseudolymphoma
pseudotumor cerebri
red-cell aplasia, pure
renal hypouricemia
retinitis pigmentosa
reye syndrome
rhabdomyosarcoma
schistosomiasis japonica
schistosomiasis mansoni
scleroderma, localized
seizures, febrile
signs and symptoms, digestive
skin abnormalities
spasms, infantile
spina bifida cystica
spina bifida occulta
spinal cord injuries
stevens-johnson syndrome
stress disorders, post-traumatic
stupor
stuttering
syndrome
systemic carnitine deficiency
tension-type headache
tinnitus
tongue diseases
translocation, genetic
transposition of great vessels
twins, conjoined
unverricht-lundborg syndrome
urinary bladder diseases
urinary bladder, neurogenic
uterine prolapse
valproic acid antenatal infection
vasculitis, leukocytoclastic, cutaneous
abducens nerve diseases
alcohol withdrawal seizures
anemia, hypochromic
arthritis, gouty
arthritis, rheumatoid
azotemia
behcet syndrome
calcinosis
cardiomyopathy, alcoholic
central nervous system infections
cholangitis
dermatitis, exfoliative
duodenal ulcer
end stage liver disease
extravasation of diagnostic and therapeutic materials
facial paralysis
fibromyalgia
gingival hyperplasia
gingival hypertrophy
gingival overgrowth
gingivitis
graft vs host disease
guillain-barre syndrome
hemoglobinuria, paroxysmal
hemostatic disorders
hepatic veno-occlusive disease
hepatitis b, chronic
hepatitis c
hyperbilirubinemia
hypertension, renal
hypertrichosis
hypervitaminosis a
immune suppression
jaundice, neonatal
keratoconjunctivitis sicca
kidney calculi
metabolic diseases
metal metabolism, inborn errors
monosomy
multicystic dysplastic kidney
myoclonic epilepsies, progressive
nails, malformed
nephrocalcinosis
nephrosis, congenital
neuralgia
oral ulcer
organophosphate poisoning
osteosarcoma
pain, intractable
pancreatitis, chronic
pemphigus
polyploidy
posterior leukoencephalopathy syndrome
precursor t-cell lymphoblastic leukemia-lymphoma
premenstrual syndrome
protozoan infections, animal
purpura, thrombocytopenic, idiopathic
recurrence
retinal vein occlusion
scleroderma, diffuse
serotonin syndrome
spermatic cord torsion
stomatitis, aphthous
sturge-weber syndrome
thrombotic microangiopathies
thyroid cancer, follicular
tourette syndrome
trisomy
urolithiasis
uveitis
uveitis, posterior
vacuolar myopathy
vascular system injuries
vitamin b 12 deficiency
xerophthalmia
abnormalities, severe teratoid
airway obstruction
alcohol-induced disorders
bile duct diseases
biliary tract diseases
cardiac output, high
crohn disease
drug-induced liver injury, chronic
headache disorders
hyperesthesia
hyperventilation
hypoalbuminemia
hypovolemia
kidney papillary necrosis
male urogenital diseases
methemoglobinemia
oliguria
osteoarthritis
postoperative nausea and vomiting
purpura fulminans
respiratory hypersensitivity
respiratory tract infections
spondylosis
ureteral neoplasms
urologic diseases
urticaria
abscess
accutane embryopathy
acidosis, renal tubular
acneiform eruptions
acrodermatitis
acth deficiency, isolated
actinomycetales infections
acute-phase reaction
adams-stokes syndrome
adenocarcinoma, bronchiolo-alveolar
adenoviridae infections
adrenal cortex diseases
adrenal gland diseases
adrenal hyperplasia, congenital
adrenocortical adenoma
adrenocortical carcinoma
affective disorders, psychotic
aids-related opportunistic infections
akinetic mutism
alopecia areata
altitude sickness
amphetamine-related disorders
amyopathic dermatomyositis
amyotrophic lateral sclerosis
anemia, hypoplastic, congenital
anemia, refractory, with excess of blasts
angioedemas, hereditary
anorexia nervosa
anotia
anti-neutrophil cytoplasmic antibody-associated vasculitis
aortic valve stenosis
aortitis
aphasia, broca
arsenic poisoning
arthritis, juvenile rheumatoid
aspergillosis
asthenia
atypical hemolytic uremic syndrome
azoospermia
bacteremia
bacterial infections
berylliosis
biliary tract neoplasms
blast crisis
blastomycosis
blepharospasm
blue toe syndrome
bone diseases, infectious
bone marrow neoplasms
brachial plexus neuritis
brain abscess
brain hemorrhage, traumatic
bronchial neoplasms
bronchitis
bronchitis, chronic
bronchopneumonia
bronchopulmonary dysplasia
burkitt lymphoma
cachexia
candidiasis
candidiasis, chronic mucocutaneous
candidiasis, invasive
candidiasis, oral
capillary leak syndrome
carcinoma, bronchogenic
carcinoma, ehrlich tumor
carcinoma, large cell
carcinoma, lewis lung
carcinoma, lobular
carcinoma, small cell
carcinoma, squamous cell of head and neck
carcinosarcoma
cardiac output, low
cardiac tamponade
carotid artery injuries
carotid stenosis
cataplexy
cavernous sinus thrombosis
celiac disease
central nervous system fungal infections
cerebral hemorrhage, traumatic
cheilitis
cholangitis, sclerosing
chorioamnionitis
cicatrix
cochlear diseases
colitis, ulcerative
community-acquired infections
conjunctival diseases
conjunctivitis
constipation
contusions
corneal ulcer
craniocerebral trauma
cross infection
cryptococcosis
cushing syndrome
cyanosis
cysticercosis
cytochrome-c oxidase deficiency
deafness
deficiency diseases
dehydration
delayed graft function
dental caries
dermatitis, contact
diabetes insipidus, nephrogenic
diabetic foot
diffuse axonal injury
diplopia
discitis
disease progression
dissociative disorders
dog diseases
dysgerminoma
echinococcosis
eczema
encephalitis
endocarditis, bacterial
endocarditis, subacute bacterial
endolymphatic hydrops
endomyocardial fibrosis
endotoxemia
enterobacteriaceae infections
enterocolitis, necrotizing
enterocolitis, neutropenic
enterocolitis, pseudomembranous
eosinophilia-myalgia syndrome
epidural abscess
erythema
erythema nodosum
esophageal diseases
esophagitis
eye injuries
facial dermatoses
facies
fallopian tube neoplasms
fasciculation
fat necrosis
fibrocystic breast disease
fibroma
focal nodular hyperplasia
foreign-body reaction
gas poisoning
genital neoplasms, female
germinoma
giant cell arteritis
glaucoma, open-angle
gliosis
glomerulonephritis, iga
glomerulonephritis, membranoproliferative
goiter
gonadal dysgenesis
gram-negative bacterial infections
gram-positive bacterial infections
granuloma, laryngeal
granuloma, respiratory tract
granulomatous allergic angiitis
granulosa cell tumor
graves disease
graves ophthalmopathy
hand-foot syndrome
head and neck neoplasms
hearing loss, cisplatin-induced, susceptibility to
hearing loss, conductive
hearing loss, high-frequency
hearing loss, unilateral
heart block
heart injuries
hemangioendothelioma
hemangioma, cavernous
hemiplegia
hemoglobinuria
hemoptysis
hepatic insufficiency
hepatitis, animal
hepatitis b
hepatolenticular degeneration
hereditary angioedema types i and ii
hernia, diaphragmatic
hiccup
hidradenitis suppurativa
high serum cholesterol, familial
histiocytic disorders, malignant
histiocytosis
histiocytosis, langerhans-cell
histoplasmosis
hoarseness
hodgkin disease
huntington disease
hyperaldosteronism
hypercalciuria
hypereosinophilic syndrome
hyperpigmentation
hypersensitivity, immediate
hypersplenism
hypertension, portal
hypertrophy, right ventricular
hypoalphalipoproteinemias
hypomagnesemia 2, renal
hypomagnesemia primary
hypoproteinemia
hypotension, orthostatic
ichthyosis
idiopathic intracranial hypertension with papilledema
ileal diseases
ileus
infarction, middle cerebral artery
inflammatory bowel diseases
intervertebral disc degeneration
intestinal polyps
intracranial aneurysm
iridocyclitis
iron metabolism disorders
isotretinoin embryopathy like syndrome
jaw diseases
joint diseases
kashin-beck disease
kidney cortex necrosis
kleine-levin syndrome
lacrimal apparatus diseases
laryngostenosis
latent tuberculosis
leiomyosarcoma
leishmaniasis
leishmaniasis, cutaneous
leishmaniasis, mucocutaneous
leishmaniasis, visceral
leprosy, lepromatous
leukemia, lymphocytic, chronic, b-cell
leukemia, lymphoid
leukemia, myelomonocytic, chronic
leukemia, promyelocytic, acute
leukomalacia, periventricular
leukorrhea
lichen planus
lipodystrophy
liver abscess, amebic
liver cirrhosis, biliary
liver diseases, alcoholic
lung diseases, fungal
lung diseases, obstructive
lupus nephritis
lymphatic metastasis
lymphedema
lymphocele
lymphoma, aids-related
lymphoma, large b-cell, diffuse
lymphoma, t-cell, peripheral
macrostomia
malnutrition
mastitis
mastodynia
maxillary sinus neoplasms
mediastinitis
meningeal neoplasms
meningitis, aseptic
meningitis, bacterial
meningitis, cryptococcal
meningitis, listeria
meningitis, pneumococcal
meningoencephalitis
menkes kinky hair syndrome
menorrhagia
menstruation disturbances
microphthalmos
microstomia
microvascular angina
miller fisher syndrome
miosis
motion sickness
motor neuron disease
multiple pulmonary nodules
multiple sclerosis
multiple sclerosis, chronic progressive
mushroom poisoning
mycobacterium infections
mycobacterium infections, nontuberculous
mycoses
myelinolysis, central pontine
myopia
myositis, inclusion body
myxedema
narcolepsy
neointima
neoplasms, germ cell and embryonal
neoplasms, glandular and epithelial
neoplasms, unknown primary
nephrolithiasis
neurasthenia
neuritis
neuroblastoma
neurocysticercosis
neuroectodermal tumors
neuromuscular junction diseases
neurotic disorders
neutrophil chemotactic response
night blindness
nocardiosis
nonseminomatous germ cell tumor
occipital horn syndrome
ocular hypertension
ocular hypotension
onychomycosis
opportunistic infections
osteosclerosis
ovarian epithelial cancer
pancreatic diseases
panniculitis, lupus erythematosus
paraganglioma, extra-adrenal
paraparesis, tropical spastic
paraproteinemias
paronychia
pellagra
pemphigoid, bullous
penile diseases
perceptual disorders
periodontitis
peripheral arterial disease
phlebitis
pica
picornaviridae infections
pituitary apoplexy
placental insufficiency
plasmacytoma
pleural diseases
pneumonia, bacterial
pneumonia, pneumococcal
pneumonia, staphylococcal
polyarteritis nodosa
polycystic kidney, autosomal dominant
polycystic kidney diseases
polycythemia vera
polyomavirus infections
polyradiculoneuropathy, chronic inflammatory demyelinating
poultry diseases
precursor b-cell lymphoblastic leukemia-lymphoma
pre-excitation syndromes
pregnancy complications, infectious
primary myelofibrosis
prion diseases
proctitis
protein c deficiency
pseudomonas infections
psoas abscess
pulmonary disease, chronic obstructive
pulmonary fibrosis
pulpitis
pyomyositis
rectal neoplasms
respiratory sounds
retroperitoneal liposarcoma
rhabdoviridae infections
rheumatic diseases
rheumatic fever
rippling muscle disease, 1
rosacea
sacroiliitis
sagittal sinus thrombosis
salmonella infections, animal
sarcoidosis
sarcoma, ewing
sarcoma, synovial
sarcopenia
sciatic neuropathy
scleral diseases
scleritis
scleromyxedema
sclerosis
scrapie
scurvy
sepsis
shock, septic
shoulder pain
shwartzman phenomenon
sjogren&apos;s syndrome
skin diseases, bacterial
sleep apnea, central
somatoform disorders
spinocerebellar degenerations
staphylococcal infections
staphylococcal skin infections
starvation
status asthmaticus
stiff-person syndrome
stomatitis
striae distensae
striatonigral degeneration
surgical wound dehiscence
syncope, vasovagal
tachycardia, atrioventricular nodal reentry
tachycardia, reciprocating
telangiectasis
teratoma
testicular neoplasms
thrombocytopenic purpura, autoimmune
thyrotoxicosis
tinea versicolor
tissue adhesions
tooth injuries
tooth loss
toxoplasmosis, cerebral
tracheal diseases
tracheal neoplasms
trypanosomiasis
tuberculosis
tuberculosis, central nervous system
tuberculosis, gastrointestinal
tuberculosis, lymph node
tuberculosis, meningeal
tuberculosis, multidrug-resistant
tuberculosis, pleural
tuberculosis, pulmonary
tuberculosis, spinal
tuberous sclerosis
urethral neoplasms
urethritis
urinary tract infections
urogenital neoplasms
urologic neoplasms
uveomeningoencephalitic syndrome
vaginal neoplasms
ventricular flutter
ventricular outflow obstruction
ventricular premature complexes
ventricular remodeling
vertigo
viremia
virus diseases
vitamin b 6 deficiency
vitiligo
vocal cord paralysis
vulvar diseases
waldenstrom macroglobulinemia
water-electrolyte imbalance
wolff-parkinson-white syndrome
wounds and injuries
wounds, penetrating
arrest of spermatogenesis
arthritis, infectious
chlamydia infections
glycosuria, renal
renal aminoacidurias
angina pectoris, variant
hemangiosarcoma
leukemia, erythroblastic, acute
leukostasis
lipoma
liposarcoma
neoplasms, adipose tissue
peritoneal fibrosis
persistent fetal circulation syndrome
splenic neoplasms
vascular neoplasms
coloboma
corneal neovascularization
fetal weight
hereditary sensory and motor neuropathy
muscular atrophy, spinal
nervous system neoplasms
respiratory tract diseases
tobacco use disorder
achalasia addisonianism alacrimia syndrome
amyloidosis
anus, imperforate
bladder exstrophy
blepharoptosis
blister
cheyne-stokes respiration
cholestasis, extrahepatic
conjunctivitis, allergic
cryptogenic organizing pneumonia
cutis marmorata telangiectatica congenita
digestive system abnormalities
down syndrome
eclampsia
endocrine gland neoplasms
eosinophilic granuloma
epidermolysis bullosa
epilepsia partialis continua
fatigue syndrome, chronic
fecal impaction
fetal hydantoin syndrome
foot deformities, congenital
ganglioneuroblastoma
hand deformities, congenital
hernia, umbilical
holoprosencephaly
hyperhidrosis
hyperparathyroidism, secondary
hypopigmentation
iga deficiency
immunoblastic lymphadenopathy
isaacs syndrome
lymphocytosis
median neuropathy
megacolon
mesenchymoma
mucocutaneous lymph node syndrome
myotonia congenita
myotonic dystrophy
neuroaxonal dystrophies
neuroectodermal tumor, melanotic
neuroectodermal tumors, primitive
ornithine carbamoyltransferase deficiency disease
peroneal neuropathies
polydactyly
pregnancy, prolonged
reflex, babinski
serum sickness
skin diseases, papulosquamous
systemic necrotizing angiitis
tachycardia, ectopic junctional
thymus hyperplasia
tibial neuropathy
trigeminal neuralgia
ulnar neuropathies
vitamin d deficiency
cryptosporidiosis
subdural effusion
acquired immunodeficiency syndrome
adrenal cortex neoplasms
alstrom syndrome
brucellosis
carotid artery diseases
corynebacterium infections
delayed emergence from anesthesia
dystonic disorders
leprosy
leprosy, borderline
leprosy, multibacillary
leprosy, tuberculoid
lipodystrophy, familial partial
meningitis, meningococcal
meningococcal infections
mycobacterium avium-intracellulare infection
panuveitis
phosphorus metabolism disorders
plant poisoning
pleurisy
retinal vasculitis
tooth demineralization
tuberculosis, renal
agammaglobulinemia
alcoholic intoxication
alcohol-induced disorders, nervous system
alexander disease
amnesia, transient global
amyotrophic lateral sclerosis 1
anophthalmos
aortopulmonary septal defect
aphonia
arthropathy, neurogenic
body temperature changes
body weight
bone marrow failure syndromes
bulimia
calculi
capgras syndrome
carcinoid tumor
carcinoma, basal cell
cardiomyopathy dilated with woolly hair and keratoderma
chalazion
cholestasis, intrahepatic of pregnancy
cholestasis, progressive familial intrahepatic 1
clubfoot
congenital hypothyroidism
conotruncal cardiac defects
coronary vessel anomalies
desmoid disease, hereditary
desmoplastic small round cell tumor
digestive system diseases
dilatation, pathologic
endocardial fibroelastosis
epididymitis
epilepsy, benign neonatal
erythromelalgia
esophageal and gastric varices
esophageal atresia
familial primary gastric lymphoma
fetal alcohol syndrome
foot dermatoses
foot ulcer
galactorrhea
hand dermatoses
headache disorders, primary
hearing loss, noise-induced
hematologic neoplasms
hemosiderosis
hepatitis, alcoholic
hepatitis c, chronic
hepatorenal syndrome
hydrothorax
inflammatory breast neoplasms
irritable bowel syndrome
lens diseases
leukemia l1210
lewy body disease
liver abscess
liver cirrhosis, alcoholic
morphine dependence
mucocele
neoplasms, bone tissue
nephrosclerosis
neuralgia, postherpetic
neurodermatitis
optic atrophy
optic atrophy, hereditary, leber
optic neuropathy, ischemic
pancreatitis, acute necrotizing
pancreatitis, alcoholic
paraplegia
pelvic pain
peripheral nerve injuries
phantom limb
pharyngitis
phobic disorders
photophobia
phyllodes tumor
polyradiculoneuropathy
porphyrias
proctocolitis
qt interval, variation in
radiation injuries
radiculopathy
rem sleep behavior disorder
restless legs syndrome
reticulocytosis
sarcoma, kaposi
schizophrenia, paranoid
schizotypal personality disorder
serositis
sick sinus syndrome
signs and symptoms, respiratory
sleep bruxism
soft tissue neoplasms
somnambulism
spinal diseases
spinocerebellar ataxias
spondylarthropathies
spondylitis, ankylosing
succinic semialdehyde dehydrogenase deficiency
superior vena cava syndrome
supranuclear palsy, progressive
sweat gland diseases
synovitis
tauopathies
telangiectasia, hereditary hemorrhagic
tetralogy of fallot
thalamic diseases
thyroiditis
trochlear nerve diseases
ureteral diseases
vacterl association
vasoplegia
ventricular dysfunction, right
vision, low
vitamin e deficiency
bulimia nervosa
ecchymosis
hematoma, epidural, cranial
keratoderma, palmoplantar
marijuana abuse
tics
bruxism
delirium, dementia, amnestic, cognitive disorders
fragile x syndrome
lymphadenitis
multiple sclerosis, relapsing-remitting
myasthenic syndromes, congenital
pick disease of the brain
renal osteodystrophy
trismus
paraquat lung
ataxia with vitamin e deficiency
bird diseases
carbon tetrachloride poisoning
carcinoma, signet ring cell
eales disease
muscular dystrophies
renal insufficiency, chronic
retinal hemorrhage
retinopathy of prematurity
short bowel syndrome
sigmoid neoplasms
aortic valve insufficiency
arrhythmia, sinus
brugada syndrome
carpal tunnel syndrome
darier disease
dementia, vascular
herpes simplex
hyperglycemic hyperosmolar nonketotic coma
hypernatremia
hyperparathyroidism
meniere disease
mobility limitation
nocturia
panophthalmitis
parathyroid neoplasms
polyhydramnios
schizophrenia, catatonic
seasonal affective disorder
sexually transmitted diseases
shellfish poisoning
sleep disorders, circadian rhythm
soft tissue infections
substance abuse, intravenous
syphilis
tachypnea
tooth diseases
bowen&apos;s disease
chronic disease
foot diseases
hyperkeratosis, epidermolytic
keratosis
acantholysis
acquired ichthyosis
adenocarcinoma, clear cell
adenocarcinoma, mucinous
anodontia
arteriovenous malformations
atrial septal defect ostium primum
barrett esophagus
carcinoma, adenosquamous
carcinoma, embryonal
caudal regression syndrome
cervical intraepithelial neoplasia
choriocarcinoma
colic
cystadenocarcinoma
ectropion
femur head necrosis
keratosis, actinic
lentigo
lichen planus, oral
metabolism, inborn errors
paraparesis
parovarian cyst
pterygium
retroperitoneal neoplasms
teratocarcinoma
uterine cervical diseases
uterine cervical dysplasia
uveal neoplasms
vaginal discharge
vitreous hemorrhage
xeroderma pigmentosum
acrodermatitis enteropathica
adenomatous polyps
arachnoiditis
ascorbic acid deficiency
athletic injuries
bartter syndrome
blepharitis
bulbar palsy, progressive
calcium metabolism disorders
carcinoma, papillary
charcot-marie-tooth disease
charcot-marie-tooth disease, axonal, type 2n
common cold
complex regional pain syndromes
condylomata acuminata
disease susceptibility
duodenal neoplasms
dysgeusia
escherichia coli infections
esophageal squamous cell carcinoma
haemophilus infections
htlv-i infections
hypocapnia
hypoprothrombinemias
klebsiella infections
leukemia-lymphoma, adult t-cell
leukemia, monocytic, acute
leukemia, t-cell
meningitis, haemophilus
mycosis fungoides
nail diseases
oculomotor nerve diseases
oligohydramnios
osteoarthritis, hip
otitis media
paraganglioma
paraneoplastic syndromes
parotid neoplasms
peptic ulcer
polyradiculopathy
prinzmetal&apos;s variant angina
prosthesis-related infections
proteus infections
pseudoxanthoma elasticum
pulmonary eosinophilia
rectal diseases
retinitis
salmonella infections
sarcoma 180
scleroderma, limited
serratia infections
spondylitis
suppuration
thiamine deficiency
tumor lysis syndrome
uveal melanoma
uveitis, anterior
vestibulocochlear nerve diseases
vipoma
argyria
hyperlysinemias
insect bites and stings
ophthalmoplegia, chronic progressive external
saccharopinuria
aortic aneurysm, familial thoracic 1
arthrogryposis
mptp poisoning
myxoma
opioid-related disorders
osteoporotic fractures
pressure ulcer
spinal cord compression
spinal fractures
tobacco addiction, susceptibility to
vulvar neoplasms
aortic valve disease 1
bone diseases, endocrine
cattle diseases
gamma aminobutyric acid transaminase deficiency
gastroesophageal reflux
genetic predisposition to disease
hyperphosphatemia
hypoparathyroidism
hypophosphatemic rickets, x-linked dominant
osteochondrodysplasias
parathyroid diseases
pseudohypoparathyroidism
rickets
achlorhydria
adenomatous polyposis coli
adrenoleukodystrophy
alkalosis, respiratory
amaurosis fugax
amnesia, anterograde
anterior compartment syndrome
antiphospholipid syndrome
aortic coarctation
asphyxia
asthma, aspirin-induced
asthma, occupational
brain death
bronchiolitis
carcinoma, ductal
causalgia
ceroid lipofuscinosis, neuronal 1, infantile
chickenpox
choanal atresia
cholestasis, benign recurrent intrahepatic 1
chordoma
chromosomal instability
contracture
cystitis, interstitial
dengue
diabetes mellitus, lipoatrophic
distal myopathies
diverticulum
duane retraction syndrome
dysgnathia complex
dyspnea, paroxysmal
ectromelia
embolism and thrombosis
encephalocele
ependymoma
episodic ataxia with nystagmus
esophageal stenosis
facial nerve diseases
factor 8 deficiency, acquired
familial apoceruloplasmin deficiency
familial hdl deficiency
fanconi anemia
fecal incontinence
food hypersensitivity
foot deformities
gagging
galactorrhea-hyperprolactinemia
gastric fistula
gastroparesis
gaucher disease
gerstmann syndrome
giant lymph node hyperplasia
glossopharyngeal nerve diseases
graft occlusion, vascular
granulomatosis, orofacial
heartburn
hemangioblastoma
hematemesis
hematoma, subdural, chronic
hemospermia
hemothorax
hernia, hiatal
histiocytic sarcoma
hiv-associated lipodystrophy syndrome
hyperacusis
hypercholesterolemia, familial
hyperlipoproteinemia type iii
hyperlipoproteinemia type v
hypertension, pregnancy-induced
hypertensive nephropathy
hypoglossal nerve diseases
hypolipoproteinemias
iatrogenic disease
intervertebral disc disease
intervertebral disc displacement
intestinal atresia
intestinal pseudo-obstruction
intracranial hemorrhage, traumatic
jejunal diseases
kartagener syndrome
keratosis, seborrheic
kidney diseases, cystic
labor pain
laryngismus
laryngopharyngeal reflux
leukemia, plasma cell
lupus erythematosus, discoid
lymphoma, b-cell, marginal zone
lymphoma, follicular
lymphoma, mantle-cell
mastocytosis, systemic
melena
meningism
mesothelioma, malignant
mild cognitive impairment
myotonia
myotonic disorders
nasopharyngeal carcinoma
neck pain
neoplasms, neuroepithelial
neoplasms, second primary
neurofibroma, plexiform
optic nerve glioma
osteoarthritis, knee
pemphigoid, benign mucous membrane
peptic ulcer hemorrhage
polymyalgia rheumatica
porokeratosis
postpartum hemorrhage
potassium deficiency
primary sclerosing cholangitis
prurigo
pulmonary alveolar proteinosis
pulmonary valve insufficiency
renal colic
respiratory paralysis
respiratory syncytial virus infections
retrograde degeneration
rhinitis, allergic, perennial
schnitzler syndrome
sezary syndrome
silicosis
sitosterolemia
sjogren-larsson syndrome
skin manifestations
smith-lemli-opitz syndrome
spastic paraplegia type 5a, recessive
spinal cord neoplasms
spinal neoplasms
spondylolysis
steatorrhea
still&apos;s disease, adult-onset
supratentorial neoplasms
tangier disease
testicular hydrocele
thyroid cancer, medullary
thyroid cancer, papillary
toothache
trigeminal nerve diseases
truncus arteriosus, persistent
ureteral calculi
urinary bladder, overactive
urinary calculi
vagus nerve diseases
vestibular neuronitis
vlcad deficiency
wallerian degeneration
werner syndrome
wheat hypersensitivity
zollinger-ellison syndrome
ciliophora infections
dermatitis, occupational
fish diseases
formaldehyde poisoning
pneumonia, aspiration
warts
anovulation
harlequin type ichthyosis
ichthyosis, lamellar
lamellar ichthyosis, type 2
pneumoconiosis
persian gulf syndrome
sex chromosome aberrations
leukemia, prolymphocytic, t-cell
lymphoma, primary effusion
rhabdomyosarcoma, alveolar
rhabdomyosarcoma, embryonal
alveolar bone loss
carcinoma, medullary
chondrocalcinosis
coronavirus infections
ductus arteriosus, patent
dyssomnias
folliculitis
hydrops fetalis
hyperamylasemia
hypoaldosteronism
ileitis
intestinal perforation
mastocytosis
ossification, heterotopic
ovarian hyperstimulation syndrome
paroxysmal hemicrania
pseudohypoaldosteronism
pulmonary heart disease
sciatica
surfactant metabolism dysfunction, pulmonary, 3
tendinopathy
tricuspid valve insufficiency
acquired hyperostosis syndrome
cone-rod dystrophy 3
femoral fractures
giant cell tumor of bone
macular degeneration
macular degeneration, age-related, 2
retinitis pigmentosa 19
stargardt disease 1
aids-related kaposi sarcoma
aneurysm, false
language disorders
neuroendocrine tumors
onycholysis
plaque, amyloid
thyroid cancer, anaplastic
tonsillar neoplasms
acute generalized exanthematous pustulosis
articulation disorders
connective tissue diseases
diabetes insipidus primary central
esotropia
facial neuralgia
hemifacial spasm
intracranial arteriovenous malformations
leukemoid reaction
parapsoriasis
purpura, thrombocytopenic
radiation injuries, experimental
tyrosinemias
water intoxication
atrial premature complexes
bidirectional tachycardia
chagas cardiomyopathy
cytomegalovirus retinitis
eye pain
gonorrhea
myoclonic dystonia
pelvic inflammatory disease
penile induration
tachycardia, ectopic atrial
tachycardia, paroxysmal
5q- syndrome
achalasia microcephaly
acquired angioedema
acrocephalosyndactylia
acromegaly
addison disease
adenocarcinoma, follicular
adenomatosis, pulmonary
agnosia
agraphia
aids-related complex
airway remodeling
alexia, pure
anemia, pernicious
anemia, refractory
angina, stable
anomia
anxiety, separation
aortic aneurysm, thoracic
apparent mineralocorticoid excess
apraxia, ideomotor
arthritis, reactive
ascaridida infections
asperger syndrome
aspergillosis, allergic bronchopulmonary
bile duct neoplasms
binge-eating disorder
blepharophimosis
borderline personality disorder
brachial plexus neuropathies
burning mouth syndrome
burns, chemical
bursitis
campylobacter infections
cardiomyopathy, restrictive
cerebellar neoplasms
cerebral arterial diseases
cerebral ventriculitis
cerebrospinal fluid otorrhea
cerebrospinal fluid rhinorrhea
child nutrition disorders
cholecystitis, acute
choledocholithiasis
cholestasis, progressive familial intrahepatic 3
chondrodysplasia punctata
chondrosarcoma
choristoma
choroid hemorrhage
chromosome 17 deletion
chromosome 7, monosomy
chronic pain
coccidioidomycosis
coccidiosis
collagen diseases
colonic diseases, functional
colorectal neoplasms, hereditary nonpolyposis
combat disorders
corneal dystrophy avellino type
corneal edema
corneal perforation
crest syndrome
cutaneous fistula
cytomegalovirus infections
decerebrate state
dental plaque
dermatitis, phototoxic
dermatomycoses
dextrocardia
dirofilariasis
diurnal enuresis
diverticulitis, colonic
dry eye syndromes
dupuytren contracture
dystonia musculorum deformans
edema of the optic disc
elephantiasis, filarial
embolism, air
embolism, cholesterol
empty sella syndrome
encephalitis, herpes simplex
encephalomyelitis
enterobiasis
epileptic encephalopathy, lennox-gastaut type
erythema migrans
esophageal motility disorders
euthyroid sick syndromes
exotropia
eye neoplasms
facial nerve injuries
factitious disorders
failed back surgery syndrome
failure to thrive
familial mediterranean fever
fasciitis, plantar
femoral neuropathy
fetal hypoxia
fetishism (psychiatric)
fissure in ano
flatulence
fractures, bone
frontotemporal dementia
gangrene
genetic diseases, inborn
gliosarcoma
granuloma, plasma cell
growth hormone-secreting pituitary adenoma
halitosis
heart failure, diastolic
heart failure, systolic
helminthiasis
helminthiasis, animal
hemianopsia
hemobilia
hemophilia a
hepatitis, viral, human
hepatopulmonary syndrome
hernia, abdominal
herpes zoster
horner syndrome
horse diseases
hypercapnia
hypochondriasis
hypohidrosis
hypopharyngeal neoplasms
hypotrichosis
hypoventilation
ichthyosis, x-linked
inflammatory bowel disease 13
intermittent claudication
intestinal fistula
intestinal polyposis
intracranial hemorrhage, hypertensive
intrahepatic cholangiocarcinoma
iris diseases
iritis
juvenile pauciarticular chronic arthritis
klatskin&apos;s tumor
kluver-bucy syndrome
kyphosis
lambert-eaton myasthenic syndrome
leg ulcer
leukemia, b-cell
leukemia, myeloid, chronic, atypical, bcr-abl negative
leukemia, myelomonocytic, acute
leukemia, radiation-induced
leukoplakia
leukoplakia, oral
liddle syndrome
lipomatosis
livedo reticularis
loiasis
lupus vasculitis, central nervous system
lyme disease
lymphohistiocytosis, hemophagocytic
lymphoma, large-cell, anaplastic
lymphoma, large-cell, immunoblastic
lymphomatoid granulomatosis
macroglossia
malabsorption syndromes
malaria, cerebral
malaria, vivax
malignant carcinoid syndrome
malignant mesenchymal tumor
marfan syndrome
maxillary diseases
meige syndrome
meningeal carcinomatosis
microscopic polyangiitis
mitochondrial cytopathy
mitochondrial encephalopathy
mitochondrial myopathy with lactic acidosis
mitral valve stenosis
monkey diseases
mucopolysaccharidosis iii
multiple system atrophy
muscular dystrophy, duchenne
mycoplasma infections
mycotoxicosis
myelitis
myelitis, transverse
myokymia
nematode infections
neoplasms, radiation-induced
nerve compression syndromes
neuromyelitis optica
night terrors
nonpuerperal galactorrhea
no-reflow phenomenon
olfactory nerve diseases
oligomenorrhea
onchocerciasis
oral submucous fibrosis
orbital pseudotumor
orthostatic intolerance
osteitis deformans
otitis media with effusion
oxyuriasis
pallor
paranasal sinus neoplasms
paraparesis, spastic
paraphilias
parasitemia
parasitic diseases
pars planitis
pelvic infection
pemphigus, benign familial
penile neoplasms
pericarditis, constrictive
persistent vegetative state
peters anomaly
pharyngeal diseases
pityriasis rubra pilaris
pleural effusion, malignant
pneumocephalus
pneumonia, pneumocystis
polymorphic catecholergic ventricular tachycardia
post-exercise hypotension
postural orthostatic tachycardia syndrome
prader-willi syndrome
pregnancy complications, neoplastic
pregnancy, ectopic
primary ovarian insufficiency
prostatism
prosthesis failure
pseudobulbar palsy
pulmonary aspergillosis
pulmonary veno-occlusive disease
pyelitis
pyuria
radial neuropathy
rapidly progressive glomerulonephritis with pulmonary hemorrhage
respiratory aspiration
retinal dysplasia
retroviridae infections
rheumatic heart disease
rheumatoid vasculitis
rhinitis, allergic, seasonal
rupture
rupture, spontaneous
sarcoma, clear cell
sarcoma, experimental
schizophrenia and disorders with psychotic features
schizophrenia, childhood
schizophrenia, disorganized
seminoma
severe acute respiratory syndrome
severe cutaneous adverse reaction, susceptibility to
sialadenitis
simian acquired immunodeficiency syndrome
situs inversus
skin diseases, infectious
skin diseases, vesiculobullous
sleep disorders, intrinsic
sleep-wake transition disorders
smith-magenis syndrome
sneezing
snoring
spermatogenic failure 6
sphincter of oddi dysfunction
spinal cord vascular diseases
spinal stenosis
sporotrichosis
strongyle infections, equine
sunburn
sunct syndrome
sweet syndrome
syndactyly
systemic candidiasis
systemic inflammatory response syndrome
tendon injuries
tetanus
thoracic neoplasms
thyroiditis, autoimmune
tinea
tinea capitis
tinea pedis
tonic pupil
tonsillitis
tooth abrasion
tooth discoloration
toxoplasmosis, congenital
toxoplasmosis, ocular
tracheal stenosis
trichinellosis
trichostrongyloidiasis
trophoblastic neoplasms
trypanosomiasis, african
tuberculosis, osteoarticular
typhus, endemic flea-borne
urethral obstruction
urinary bladder fistula
urinary bladder neck obstruction
urinary incontinence, stress
uterine cervicitis
vaginitis
vesico-ureteral reflux
vesicovaginal fistula
vitamin a deficiency
warfarin syndrome
wernicke encephalopathy
afibrinogenemia congenital
aids-associated nephropathy
auditory neuropathy
carcinoma, islet cell
cholecystolithiasis
cholestasis, benign recurrent intrahepatic 2
cholestasis, progressive familial intrahepatic 2
coproporphyria, hereditary
extensively drug-resistant tuberculosis
fanconi like syndrome
insulinoma
nocturnal myoclonus syndrome
polydipsia
surgical wound infection
varicose ulcer
angiomatosis
dislocations
epilepsy, post-traumatic
fascioliasis
gingival hemorrhage
goiter, nodular
immune complex diseases
intestinal diseases, parasitic
lung diseases, parasitic
mite infestations
speech disturbance - use of faulty phrasing and unrelated words
strongyloidiasis
asbestosis
hyperoxia
neoplastic processes
neuritis, autoimmune, experimental
opisthorchiasis
diverticulitis
gallbladder disease 1
retinal detachment
anemia, sideroblastic spinocerebellar ataxia
appendiceal neoplasms
beta-thalassemia
foot injuries
hand injuries
antley-bixler syndrome phenotype
candidiasis, cutaneous
afibrinogenemia
alpha 1-antitrypsin deficiency
anemia, hypochromic microcytic
antithrombin iii deficiency
asthma, exercise-induced
blood loss, surgical
critical illness
croup
decompression sickness
endometritis
familial cerebral cavernous malformation
fractures, closed
friedreich ataxia
head injuries, closed
hemochromatosis
hereditary angioedema type iii
leriche syndrome
mixed connective tissue disease
multi-centric castleman&apos;s disease
nasal polyps
optic nerve injuries
parasomnias
postphlebitic syndrome
primary amyloidosis
primary graft dysfunction
protozoan infections
retrobulbar hemorrhage
sarcoma, myeloid
subarachnoid hemorrhage, traumatic
toxemia
vulvitis
adjustment disorders
anus diseases
body dysmorphic disorders
bone demineralization, pathologic
dermatitis herpetiformis
granuloma annulare
hashimoto disease
hyperthyroxinemia
jaundice, chronic idiopathic
lead poisoning, nervous system, childhood
listeriosis
liver diseases, parasitic
mitochondrial encephalomyopathies
neurosyphilis
pneumocystis infections
porphyria, variegate
rectal fistula
urinary incontinence, urge
urinoma
bacteriuria
balkan nephropathy
dysentery, bacillary
salmonella food poisoning
vibrio infections
acinetobacter infections
anthrax
bordetella infections
brachydactyly with hypertension
dent disease
flavobacteriaceae infections
glossalgia
hyperostosis, cortical, congenital
impotence, vasculogenic
moraxellaceae infections
neisseriaceae infections
obstetric labor complications
osteitis
osteoarthropathy, secondary hypertrophic
otitis
pulmonary atresia
rickettsia infections
typhoid fever
congenital hyperinsulinism
diabetes mellitus, permanent neonatal
diabetes mellitus, transient neonatal, 2
diabetic coma
hyperinsulinemic hypoglycemia, familial, 1
hypoglycemia, leucine-induced
cantu syndrome
cardiomyopathy, dilated, 1o
sleep apnea syndromes
hemangiopericytoma
keratoacanthoma
zellweger syndrome
carcinoma 256, walker
homocystinuria
imerslund-grasbeck syndrome
subacute combined degeneration
enterovirus infections
encephalitis, viral
herpesviridae infections
herpes zoster ophthalmicus
herpes zoster oticus
malignant hyperthermia
miyoshi myopathy
multiple endocrine neoplasia
nutritional and metabolic diseases
retinal necrosis syndrome, acute
temporomandibular ankylosis
lipid metabolism, inborn errors
gallbladder disease 4
murine acquired immunodeficiency syndrome
post-dural puncture headache
burkholderia infections
chylothorax
kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
refsum disease
triglyceride storage disease with impaired long-chain fatty acid oxidation
mastocytosis, cutaneous
myeloproliferative disorders
chromosome 22, microdeletion 22 q11
low tension glaucoma
filariasis
leukocyte disorders
d-bifunctional protein deficiency
spinal curvatures
isobutyryl-coa dehydrogenase deficiency
acyl-coa dehydrogenase family, member 9, deficiency of
medium chain acyl coa dehydrogenase deficiency
short chain acyl coa dehydrogenase deficiency
2-methylbutyryl-coa dehydrogenase deficiency
neuronal ceroid-lipofuscinoses
jet lag syndrome
muscular dystrophy, facioscapulohumeral
osteochondritis dissecans, short stature, and early-onset osteoarthritis
spondyloepimetaphyseal dysplasia, aggrecan type
spondyloepiphyseal dysplasia, kimberley type
acute chest syndrome
beta ketothiolase deficiency
common bile duct diseases
frostbite
hemorrhoids
herpes labialis
hyaline membrane disease
hip fractures
paroxysmal nonkinesigenic dyskinesia
allanson pantzar mcleod syndrome
barotrauma
chilblains
evan&apos;s syndrome
eyelid neoplasms
fasciitis
glossitis
glycogen storage disease type v
hearing loss, mixed conductive-sensorineural
infarction, anterior cerebral artery
microvascular complications of diabetes, susceptibility to, 1
microvascular complications of diabetes, susceptibility to, 3
parasystole
pleurodynia, epidemic
pneumonia, lipid
pneumonia, viral
pneumoperitoneum
polyps
renal tubular dysgenesis
segmental glomerulosclerosis
tietze&apos;s syndrome
ascariasis
cat diseases
flea infestations
hookworm infections
hymenolepiasis
oxyurida infections
tick infestations
trichuriasis
cayler cardiofacial syndrome
aggressive periodontitis
chromosome 13q trisomy
dementia, multi-infarct
esophageal spasm, diffuse
fluorosis, dental
foodborne diseases
fusariosis
heart rupture
hematoma, subdural, spinal
hyperglycinemia, nonketotic
job&apos;s syndrome
myofascial pain syndromes
neural tube defect, folate-sensitive
parasitic diseases, animal
schistosomiasis
schistosomiasis haematobia
acrocallosal syndrome
anemia, diamond-blackfan
nasopharyngitis
thalassemia
puerperal infection
duodenitis
pilonidal sinus
peroxisomal acyl-coa oxidase deficiency
spondyloenchondrodysplasia
malonic aciduria
methylmalonic acidemia
mental retardation, x-linked 63
myopathy, congenital, with fiber-type disproportion
nemaline myopathy 3
abortion, habitual
aortic aneurysm, familial thoracic 6
chylous ascites
idiopathic pulmonary fibrosis
leukemia, hairy cell
leukemia, myelomonocytic, juvenile
neoplasms, multiple primary
nephrogenic fibrosing dermopathy
pancreatic islet cell tumors
thymoma
juvenile-onset dystonia
smoke inhalation injury
neoplasms, mesothelial
atrial septal defect 5
cardiomyopathy, familial hypertrophic, 1
cardiomyopathy, familial hypertrophic, 11
refractive errors
acetabular dysplasia
deafness, autosomal dominant 20
cecal neoplasms
muscle neoplasms
cardiomyopathy, dilated, 1aa
hysteria
takayasu arteritis
myositis ossificans
heterotaxy syndrome
osler-rendu-weber syndrome 2
aminoacylase 1 deficiency
aicardi syndrome
nelson syndrome
pituitary acth hypersecretion
severe combined immunodeficiency due to adenosine deaminase deficiency
cone-rod dystrophy 9
weill-marchesani syndrome
weill-marchesani-like syndrome
ehlers-danlos syndrome, type vii, autosomal recessive
acromicric dysplasia
geleophysic dysplasia 1
ectopia lentis 2, isolated, autosomal recessive
aicardi-goutieres syndrome
dyschromatosis symmetrica hereditaria 1
coenzyme q10 deficiency, primary, 1
spinocerebellar ataxia, autosomal recessive 9
hypercalciuria, absorptive, 2
colonic polyps
asphyxia neonatorum
echinococcosis, hepatic
giardiasis
autonomic dysreflexia
facial asymmetry
chromosome fragility
hypertension, essential
parkinson disease, late-onset
adiponectin, serum level of, quantitative trait locus 2
adiponectin, serum level of, quantitative trait locus 3
diabetes, gestational
dystonia, dopa-responsive
neurodegeneration with brain iron accumulation (nbia)
parkinson disease, juvenile, autosomal recessive
phencyclidine abuse
segawa syndrome, autosomal recessive
shy-drager syndrome
transvestism
gambling
heart murmurs
hyperemesis gravidarum
neoplasms, squamous cell
thyroid hormone resistance syndrome
gait apraxia
smooth muscle tumor
aging, premature
protoporphyria, erythropoietic
adenylosuccinate lyase deficiency
mental retardation, x-linked, associated with fragile site fraxe
spinocerebellar ataxia 28
aspartylglucosaminuria
ciguatera poisoning
klippel-trenaunay-weber syndrome
glycogen storage disease type iii
dysentery, amebic
lipodystrophy, congenital generalized, type 1
rhizomelic chondrodysplasia punctata, type 3
congenital myasthenic syndrome ib
acquired cjd
anemia, neonatal
autoimmune lymphoproliferative syndrome
craniofacial dysostosis
parotitis
soft tissue injuries
conversion disorder
echolalia
mental retardation, x-linked
primary hyperoxaluria type 1
amino acid metabolism, inborn errors
bell palsy
flavivirus infections
hemorrhagic fever, american
hemorrhagic fever, crimean
hemorrhagic fever with renal syndrome
hepatitis a
hypertensive retinopathy
lassa fever
orthomyxoviridae infections
paramyxoviridae infections
phlebotomus fever
reoviridae infections
rift valley fever
sarcoidosis, pulmonary
subacute sclerosing panencephalitis
joubert syndrome 3
chromoblastomycosis
hyperoxaluria, primary
kernicterus
mental fatigue
pancreatic adenoma
pancreatic cancer, adult
sulfhemoglobinemia
immunodeficiency with hyper-igm, type 2
combined oxidative phosphorylation deficiency 6
eosinophilic pustular folliculitis
glycogen storage disease
laryngomalacia
nesidioblastosis
preeclamptic toxemia
ureaplasma infections
west nile fever
wound infection
acth-secreting pituitary adenoma
leber congenital amaurosis 4
autoimmune polyendocrinopathy syndrome, type 1
polyendocrinopathies, autoimmune
autoimmune disease, susceptibility to, 1
adenylate kinase deficiency, hemolytic anemia due to
reticular dysgenesis
severe combined immunodeficiency
lichen nitidus
cardiac conduction defect
long qt syndrome 11
laryngitis
abortion, threatened
lymphangioleiomyomatosis
omphalocele exstrophy imperforate anus
pityriasis lichenoides
salpingitis
bile acid synthesis defect, congenital, 2
cestode infections
diphyllobothriasis
taeniasis
trematode infections
breast-ovarian cancer, familial, susceptibility to, 1
depression, postpartum
empyema
fever of unknown origin
myoma
pedophilia
polycystic liver disease
macrocephaly
dermatitis, photoallergic
diffuse alopecia
felty syndrome
hyperparathyroidism, primary
hypothalamic diseases
porphyria, acute hepatic
vulvodynia
protoporphyria, erythropoietic, x-linked
x-linked sideroblastic anemia
abdominal abscess
amebiasis
bacteroides infections
borrelia infections
bronchiectasis
central nervous system bacterial infections
clostridium infections
entamoebiasis
heart septal defects
hyperthyroxinemia, familial dysalbuminemic
hypoparathyroidism familial isolated
leukemia, biphenotypic, acute
lyme neuroborreliosis
nocardia infections
pulmonary atelectasis
trichomonas infections
trichomonas vaginitis
zinc, elevated plasma
eye diseases, hereditary
mucinoses
urethral diseases
alcohol sensitivity, acute
hyperprolinemia type 2
pyridoxine-dependent epilepsy
glycogen storage disease xii
hematoma, subdural, intracranial
fructose intolerance
congenital disorder of glycosylation type 1k
congenital disorder of glycosylation, type ip
congenital disorder of glycosylation type 1g
congenital disorder of glycosylation type 1i
congenital disorder of glycosylation type 1d
congenital disorder of glycosylation type 1c
congenital disorder of glycosylation type 1h
congenital disorder of glycosylation type 1l
plasma cell granuloma, pulmonary
cystinuria
glucosephosphate dehydrogenase deficiency
hemarthrosis
lafora disease
myasthenia gravis, autoimmune, experimental
thrombotic thrombocytopenic purpura, acquired
ichthyosiform erythroderma, brocq congenital, nonbullous form
periapical diseases
fibrous dysplasia of bone
hypophosphatasia, adult
hypophosphatasia, childhood
hypophosphatasia, infantile
osteoporosis-pseudoglioma syndrome
allergic rhinitis
amyotrophic lateral sclerosis 2, juvenile
hereditary spastic paralysis, infantile onset ascending
primary lateral sclerosis juvenile
frontonasal dysplasia 3
frontonasal dysplasia 1
frontonasal dysplasia 2
parietal foramina
parietal foramina 2
bile acid synthesis defect, congenital, 4
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
osteopathia striata cranial sclerosis
persistent mullerian duct syndrome
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
megaloblastic anemia 1
adenosine monophosphate deaminase deficiency
bone cysts, aneurysmal
angelman syndrome
amyotrophic lateral sclerosis 9
ergotism
hypobetalipoproteinemia, familial, 2
spherocytosis, type 1
cardiac arrhythmia, ankyrin-b-related
chondrocalcinosis 2
craniometaphyseal dysplasia, autosomal dominant
tooth abnormalities
dental enamel hypoplasia
dental pulp calcification
nutrition disorders
gnathodiaphyseal dysplasia
muscular dystrophy, limb-girdle, type 2l
scott syndrome
eye infections
hemangioma, capillary infantile
hyalinosis, systemic
dermatitis, seborrheic
paratuberculosis
abdominal obesity metabolic syndrome
mental retardation, x-linked, syndromic, fried type
familial benign hypercalcemia, type 3
hermansky pudlak syndrome 2
spastic paraplegia 50, autosomal recessive
spastic paraplegia 48, autosomal recessive
turcot syndrome
hypotrichosis simplex
granuloma, pyogenic
hutchinson&apos;s melanotic freckle
amyloidosis, familial visceral
intestinal volvulus
hypertriglyceridemia, familial
hypercholesterolemia, autosomal dominant, type b
hypobetalipoproteinemia, familial, apolipoprotein b
hyperlipoproteinemia type i
alzheimer disease, familial
alzheimer disease type 2
cerebral amyloid angiopathy
lipoprotein glomerulopathy
macular degeneration, age-related, 1
sea-blue histiocyte syndrome
candidemia
cerebral amyloid angiopathy, app-related
cerebral hemorrhage with amyloidosis, hereditary, dutch type
colonic pseudo-obstruction
fungemia
labyrinthitis
meningitis, fungal
mucormycosis
zygomycosis
early-onset ataxia with oculomotor apraxia and hypoalbuminemia
carcinoma, adenoid cystic
diabetes insipidus, neurogenic
androgen-insensitivity syndrome
aspermia
bulbospinal neuronopathy, x-linked recessive
epispadias
hypospadias 1, x-linked
sexual precocity
heterotopia, periventricular, autosomal recessive
erythema chronicum migrans
hyperargininemia
impetigo
pruritus vulvae
slowed nerve conduction velocity, autosomal dominant
mental retardation, x-linked 46
epileptic encephalopathy, early infantile, 8
adenocarcinoma of esophagus
coffin-siris syndrome
joubert syndrome 8
bardet-biedl syndrome
retinitis pigmentosa 55
leukodystrophy, metachromatic
mucopolysaccharidosis vi
chondrodysplasia punctata, brachytelephalangic
epileptic encephalopathy, early infantile, 1
lissencephaly, x-linked, 2
mental retardation, x-linked, with or without seizures, arx-related
partington x-linked mental retardation syndrome
proud syndrome
farber lipogranulomatosis
tuberculoma, intracranial
congenital central hypoventilation syndrome
acanthamoeba keratitis
babesiosis
argininosuccinic aciduria
anterior segment mesenchymal dysgenesis
canavan disease
microcephaly 5, primary, autosomal recessive
sarcoma, alveolar soft part
citrullinemia
bohring syndrome
cerebellar ataxia, cayman type
jeune syndrome
atrial fibrillation, familial 1
inflammatory bowel disease 10
aicar transformylase/imp cyclohydrolase deficiency
spastic paraplegia 3, autosomal dominant
dermatitis, atopic, 1
wounds, nonpenetrating
parkinson disease 9
emaciation
alternating hemiplegia of childhood
migraine, familial hemiplegic, 2
dystonia 12
brody myopathy
deafness, autosomal recessive 12
mental retardation, x-linked, with epilepsy
cutis laxa, autosomal recessive, type iia
wrinkly skin syndrome
renal tubular acidosis, distal, autosomal recessive
renal tubular acidosis, distal, with progressive nerve deafness
spinal muscular atrophy, distal, x-linked 3
mitochondrial complex v (atp synthase) deficiency, nuclear type 1;mc5dn1 mitochondrial complex v (atp synthase) deficiency, atpaf2 type
seckel syndrome 1
alpha-thalassemia myelodysplasia syndrome
atr-x syndrome
mental retardation-hypotonic facies syndrome, x-linked, 1
thoracic diseases
spinocerebellar ataxia 10
machado-joseph disease
3-methylglutaconic aciduria, type i
spermatogenic failure 5
genetic diseases, x-linked
nephrogenic syndrome of inappropriate antidiuresis
atrioventricular septal defect 3
caudal duplication anomaly
oligodontia-colorectal cancer syndrome
spermatogenic failure, nonobstructive, y-linked
hypoproteinemia, hypercatabolic
krause-kivlin syndrome
congenital disorder of glycosylation type 2d
ehlers-danlos syndrome, progeroid form
hypercholanemia, familial
choroidal neovascularization
retinal neovascularization
rhinitis, vasomotor
encephalopathy, bovine spongiform
myopathy, myofibrillar 6, mfm6
nevi and melanomas
acitretin embryopathy
alien hand syndrome
chorioretinitis
infant nutrition disorders
larva migrans
olfactory nerve injuries
papillon-lefevre disease
secernentea infections
sparganosis
williams syndrome
maple syrup urine disease
bamforth syndrome
butyrylcholinesterase deficiency
paralysis, obstetric
pseudocholinesterase deficiency
sweating, gustatory
chondrosarcoma, mesenchymal
t-lymphocytopenia
hypercarotenemia and vitamin a deficiency, autosomal dominant
microphthalmia, syndromic 2
bjornstad syndrome
finnish lethal neonatal metabolic syndrome
leigh disease
mitochondrial complex iii deficiency
brachydactyly type a1
chromosome 2q37 deletion syndrome
absence of tibia
headache disorders, secondary
obesity, morbid
wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome
spinocerebellar ataxia 31
bestrophinopathy, autosomal recessive
macular dystrophy, concentric annular
macular dystrophy, vitelliform, adult-onset
retinitis pigmentosa 50
vitelliform macular dystrophy
vitreoretinochoroidopathy
cataract, cortical, juvenile-onset
cataract, autosomal dominant
cataract, autosomal dominant, multiple types 1
mandibular diseases
myopathies, structural, congenital
myopathy, centronuclear, 2
leukemia, megakaryoblastic, acute
maturity-onset diabetes of the young, type 11
bloom syndrome
agammaglobulinemia 4, autosomal recessive
albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
body mass index quantitative trait locus 4
ovarian dysgenesis 2
microphthalmia, syndromic 6
orofacial cleft 11
hamartoma syndrome, multiple
juvenile polyposis syndrome
polyposis syndrome, hereditary mixed, 2
brachydactyly type a2
chondrodysplasia, acromesomelic, with genital anomalies
pulmonary edema of mountaineers
bisphosphoglycerate mutase deficiency
cardiofaciocutaneous syndrome
costello syndrome
leopard syndrome 3
noonan syndrome
noonan syndrome 7
hereditary breast and ovarian cancer syndrome
breast-ovarian cancer, familial, susceptibility to, 2
fanconi anemia, complementation group d1
fanconi anemia, complementation group j
mental retardation, x-linked 93
lipodystrophy, congenital generalized, type 2
neuronopathy, distal hereditary motor, type va
spastic paraplegia 17
bartter syndrome, type 4a
biotinidase deficiency
bruton type agammaglobulinemia
hypogammaglobulinemia and isolated growth hormone deficiency, x-linked
mosaic variegated aneuploidy syndrome
premature chromatid separation trait
mitochondrial dna depletion syndrome 3 (hepatocerebral type)
mitochondrial dna depletion syndrome 7 (hepatocerebral type)
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
combined oxidative phosphorylation deficiency 7
tn syndrome
late-onset retinal degeneration
complement component c1r/c1s deficiency
complement component 2 deficiency
macular degeneration, age-related, 9
complement component 5 deficiency
complement component 6 deficiency
complement component 7 deficiency
complement component 8 deficiency, type i
complement component 8 deficiency, type ii
hyperchlorhidrosis, isolated
osteopetrosis with renal tubular acidosis
retinitis pigmentosa 17
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
anaplasia
carcinoma, intraductal, noninfiltrating
night blindness, congenital stationary, type 2b
hemiplegic migraine, familial type 1
migraine, familial hemiplegic, 1
brugada syndrome 3
timothy syndrome
aland island eye disease
cone-rod dystrophy, x-linked, 3
night blindness, congenital stationary, type 2a
hypokalemic periodic paralysis, type 1
malignant hyperthermia susceptibility type 5
thyrotoxic periodic paralysis, susceptibility to, 1
retinal cone dystrophy 4
brugada syndrome 4
episodic ataxia, type 5
spherocytosis, hereditary
adiposis dolorosa
myocardial bridging
syphilis, secondary
desbuquois syndrome
diabetes mellitus, noninsulin-dependent, 1
limb-girdle muscular dystrophy type 2a
candidiasis, familial, 2
mental retardation and microcephaly with pontine and cerebellar hypoplasia
opitz-kaveggia syndrome
autoimmune lymphoproliferative syndrome, type iia
lymphoma, non-hodgkin, familial
creatine deficiency, x-linked
leukoencephalitis, acute hemorrhagic
sprains and strains
ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
ventricular tachycardia, catecholaminergic polymorphic, 2
hyperparathyroidism, neonatal severe primary
hypocalciuric hypercalcemia, familial, type 1
acatalasia
cri-du-chat syndrome
opsoclonus-myoclonus syndrome
purpura, hyperglobulinemic
spermatogenic failure 7
lipodystrophy, congenital generalized, type 3
chromosome 3, monosomy 3p25
creatine phosphokinase, elevated serum
long qt syndrome 9
muscular dystrophies, limb-girdle
muscular dystrophy, limb-girdle, type 1c
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
46, xy sex reversal 5
mental retardation, autosomal recessive 3
coach syndrome
joubert syndrome 9
meckel syndrome, type 6
cerulean cataract
hennekam lymphangiectasia lymphedema syndrome
deafness, autosomal dominant 44
mycobacterium tuberculosis, susceptibility to
eosinophilic esophagitis
cerebral cavernous malformations 2
hemangioma, cavernous, central nervous system
peritoneal neoplasms
von hippel-lindau disease
chagas disease
diabetes mellitus, insulin-dependent, 22
pulmonary valve stenosis
otorhinolaryngologic diseases
cataract, total congenital
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
nephropathy with pretibial epidermolysis bullosa and deafness
common variable immunodeficiency
immunodeficiency due to defect in cd3-zeta
methylmalonic aciduria due to transcobalamin receptor defect
actinomycosis
bacillaceae infections
plasmodium falciparum blood infection level
platelet glycoprotein iv deficiency
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
immunodeficiency with hyper-igm, type 3
immunodeficiency with hyper-igm, type 1
measles
cd59 deficiency
dermatitis, perioral
agammaglobulinemia 6, autosomal recessive
radiodermatitis
cd8 deficiency, familial
c syndrome
anemia, dyserythropoietic, congenital
corneal dystrophy, thiel-behnke type
meier-gorlin syndrome
prostate cancer, familial
mental retardation, autosomal dominant 3
usher syndrome, type 1d
ectodermal dysplasia, ectrodactyly, and macular dystrophy
juvenile macular degeneration and hypotrichosis
cone-rod dystrophy 15
melanoma, cutaneous malignant, susceptibility to, 3
microcephaly 3, primary, autosomal recessive
epileptic encephalopathy, early infantile, 2
rett syndrome
multiple endocrine neoplasia, type iv
beckwith-wiedemann syndrome
li-fraumeni syndrome
melanoma astrocytoma syndrome
melanoma, cutaneous malignant, susceptibility to, 2
melanoma-pancreatic cancer syndrome
vulvar lichen sclerosus
hypotrichosis 2
specific granule deficiency
maturity-onset diabetes of the young, type 8, with exocrine dysfunction
exocrine pancreatic insufficiency
microcephaly 6, primary, autosomal recessive
seckel syndrome 4
microcephaly 4, primary, autosomal recessive
joubert syndrome 5
leber congenital amaurosis 10
meckel syndrome, type 4
senior-loken syndrome 6
retinitis pigmentosa 26
coproporphyria
hyperalphalipoproteinemia 1
conotruncal heart malformations
heterotaxy, visceral, 2, autosomal
basal laminar drusen
complement factor h deficiency
macular degeneration, age-related, 4
complement factor i deficiency
nemaline myopathy 7
lymphoma, extranodal nk-t-cell
cystic fibrosis, modifier of, 1
properdin deficiency, x-linked
bronchiectasis with or without elevated sweat chloride 1
congenital bilateral aplasia of vas deferens
hereditary pancreatitis
congenital myasthenic syndrome with episodic apnea
charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
charge syndrome
kallmann syndrome
scoliosis, idiopathic, susceptibility to, 3
asthma-related traits, susceptibility to, 7
choroideremia
frontotemporal dementia, chromosome 3-linked
frontotemporal lobar degeneration
cataract, posterior polar, 3
multiple pterygium syndrome, lethal type
myasthenic syndrome, congenital, fast-channel
myasthenic syndrome, congenital, postsynaptic slow-channel
epilepsy, nocturnal frontal lobe, type 4
epilepsy, frontal lobe
epilepsy, nocturnal frontal lobe, type 1
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
epilepsy, nocturnal frontal lobe, type 3
multiple pterygium syndrome
ehlers-danlos syndrome, musculocontractural type
joint instability
spondyloepiphyseal dysplasia with congenital joint dislocations
macular dystrophy, corneal type 1
cocoon syndrome
usher syndrome, type ij
bare lymphocyte syndrome 2
north american indian childhood cirrhosis
wolfram syndrome
cervical dystonia, primary
cold-induced sweating syndrome 1
myotonia congenita, autosomal dominant
myotonia congenita, autosomal recessive
epilepsy juvenile absence
dent disease 1
hypophosphatemic rickets, x-linked recessive
low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
nephrolithiasis, x-linked recessive, with renal failure
osteopetrosis,  autosomal recessive 4
bartter syndrome, type 4b
bartter syndrome, type 3
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
hypomagnesemia 3, renal
hypomagnesemia 5, renal, with ocular involvement
dengue hemorrhagic fever
candidiasis familial chronic mucocutaneous, autosomal recessive
ceroid lipofuscinosis, neuronal 3, juvenile
ceroid lipofuscinosis, neuronal 5
ceroid lipofuscinosis, neuronal, 6
ceroid lipofuscinosis, neuronal 8
ceroid lipofuscinosis, neuronal 9
usher syndrome, type iiia
familial dilated cardiomyopathy
cardiomyopathy, dilated, 1c
melanoma, cutaneous malignant, susceptibility to, 1
dystrophia myotonica 2
carney complex
homocarnosinosis
achromatopsia 2
achromatopsia 3
jalili syndrome
myopathy, congenital, compton-north
cortical dysplasia-focal epilepsy syndrome
pitt-hopkins syndrome
deafness, autosomal dominant 9
congenital disorder of glycosylation, type 2g
congenital disorder of glycosylation, type iij
congenital disorder of glycosylation, type iii
congenital disorder of glycosylation type 2e
congenital disorder of glycosylation, type iih
metaphyseal chondrodysplasia schmid type
marshall syndrome
stickler syndrome, type 2
deafness, autosomal dominant 13
deafness, autosomal recessive 53
nance sweeney chondrodysplasia
otospondylomegaepiphyseal dysplasia
pierre robin syndrome with fetal chondrodysplasia
stickler syndrome, type 3
epidermolysis bullosa, junctional, non-herlitz type
knobloch syndrome
ehlers-danlos syndrome type 1
ehlers-danlos syndrome, type vii, autosomal dominant
osteogenesis imperfecta
osteogenesis imperfecta, type 2a
osteogenesis imperfecta, type 3
osteogenesis imperfecta, type 4
ehlers-danlos syndrome, cardiac valvular form
achondrogenesis type 2
epiphyseal dysplasia, multiple, with myopia and conductive deafness
hyaloideoretinal degeneration of wagner
kniest dysplasia
legg-calve-perthes disease
osteoarthritis with mild chondrodysplasia
platyspondylic lethal skeletal dysplasia, torrance type
spondyloepiphyseal dysplasia, congenita
spondylometaphyseal dysplasia, kozlowski type
spondyloperipheral dysplasia
stickler syndrome, type 1
stickler syndrome, type i, nonsyndromic ocular
strudwick syndrome
ehlers-danlos syndrome type 3
ehlers danlos syndrome type 4, autosomal dominant
angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
brain small vessel disease with hemorrhage
familial porencephaly
alport syndrome, recessive type
hematuria, benign familial
nephritis, hereditary
alport syndrome, x-linked
leiomyoma, epithelioid
leiomyomatosis, diffuse, with alport syndrome
ehlers-danlos syndrome type 2
bethlem myopathy
ossification of the posterior longitudinal ligament of the spine
scleroatonic muscular dystrophy
myosclerosis, autosomal recessive
epidermolysis bullosa dystrophica, autosomal recessive
epidermolysis bullosa dystrophica, pasini type
epidermolysis bullosa, pretibial
epidermolysis bullosa pruriginosa
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
nail disorder, nonsyndromic congenital, 8
transient bullous dermolysis of the newborn
corneal dystrophy, fuchs&apos; endothelial, 1
corneal dystrophy, posterior polymorphous, 1
corneal dystrophy, posterior polymorphous, 2
epiphyseal dysplasia, multiple, 2
epiphyseal dysplasia, multiple, 3
carnevale syndrome
malpuech facial clefting syndrome
oculopalatoskeletal syndrome
endplate acetylcholinesterase deficiency
epiphyseal dysplasia, multiple, 1
fairbank disease
pseudoachondroplasia
digeorge syndrome
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
mitochondrial complex iv deficiency
pasteurellaceae infections
carboxypeptidase n deficiency
alveolar capillary dysplasia
carbamoyl-phosphate synthase i deficiency disease
carnitine palmitoyl transferase 1a deficiency
carnitine palmitoyltransferase ii deficiency, infantile
carnitine palmitoyltransferase ii deficiency, late-onset
carnitine palmitoyltransferase ii deficiency, lethal neonatal
leber congenital amaurosis
pigmented paravenous chorioretinal atrophy
retinal telangiectasis
retinitis pigmentosa 12
mental retardation, autosomal recessive 2
histiocytoma, angiomatoid fibrous
rubinstein-taybi syndrome
atrioventricular septal defect, partial, with heterotaxy syndrome
intraoperative awareness
crisponi syndrome
purine-pyrimidine metabolism, inborn errors
osteogenesis imperfecta, type 7
cone-rod dystrophy 2
alpha-b crystallinopathy
cataract, congenital zonular, with sutural opacities
cataract, lamellar 2
microphthalmia, isolated, with cataract 4
cataract, congenital nuclear, autosomal recessive 3
cataract, congenital, cerulean type, 2
cataract, coppock-like
cataract, sutural, with punctate and cerulean opacities
cataract, congenital nuclear, autosomal recessive 2
cataract, congenital, cerulean type, 3
cataract congenital dominant non nuclear
cataract, crystalline aculeiform
neoplasm, residual
surfactant metabolism dysfunction, pulmonary, 4
surfactant metabolism dysfunction, pulmonary, 1
neutrophilia, hereditary
silver-russell syndrome
cardiomyopathy, dilated, 1m
cardiomyopathy, familial hypertrophic, 12
cerebral amyloid angiopathy, familial
macular degeneration, age-related, 11
gastric antral vascular ectasia
congenital cataracts, facial dysmorphism, and neuropathy
gamma-cystathionase deficiency
diabetes mellitus, insulin-dependent, 12
pilomatrixoma
cystinosis, late-onset juvenile or adolescent nephropathic type
cystinosis, ocular nonnephropathic
nephropathic cystinosis
neuraminidase deficiency with beta-galactosidase deficiency
keratosis palmoplantaris with periodontopathia and onychogryposis
ceroid lipofuscinosis, neuronal, 10
optic atrophy, autosomal dominant
tuberculosis, miliary
pycnodysostosis
mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait
three m syndrome 1
basal ganglia disease, biotin-responsive
chronic periodontitis
trimethylaminuria
whim syndrome
methemoglobinemia type iv
nadh cytochrome b5 reductase deficiency
granulomatous disease, chronic
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
granulomatous disease, chronic, x-linked
heredodegenerative disorders, nervous system
familial cylindromatosis
trichoepithelioma, multiple familial, 1
46, xy disorders of sex development
lipoid congenital adrenal hyperplasia
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
glucocorticoid-remediable aldosteronism
18-hydroxylase deficiency
adrenal hyperplasia, congenital, type 5
aromatase deficiency
sexual infantilism
ischemic contracture
skin and connective tissue diseases
upper extremity deep vein thrombosis
glaucoma 1, open angle, a
glaucoma 3, primary congenital, a
glaucoma, primary open angle
congenital adrenal hyperplasia due to 21 hydroxylase deficiency
xanthomatosis, cerebrotendinous
vitamin d hydroxylation-deficient rickets, type 1a
coumarin resistance
drug metabolism, poor, cyp2c19-related
invasive pulmonary aspergillosis
neuroaspergillosis
paracoccidioidomycosis
exsanguination
drug metabolism, poor, cyp2d6-related
vitamin d hydroxylation-deficient rickets, type 1b
hemangioma, capillary
uterine cervical incompetence
ventricular septal rupture
lamellar ichthyosis, type 3
bietti&apos;s crystalline dystrophy
spastic paraplegia, hereditary
chondroma
d-2-hydroxyglutaric aciduria 1
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
dopamine beta hydroxylase deficiency
woodhouse sakati syndrome
mirror movements 1
dyslexia
reticuloendotheliosis, familial, with eosinophilia
severe combined immunodeficiency with sensitivity to ionizing radiation
corneal dystrophy, congenital stromal
dysplastic nevus syndrome
neuronopathy, distal hereditary motor, type viib
perry syndrome
lissencephaly, x-linked, 1
pentosuria
xeroderma pigmentosum, complementation group e
aromatic amino acid decarboxylase deficiency
liposarcoma, myxoid
spondylometaepiphyseal dysplasia, short limb-hand type
warsaw breakage syndrome
peutz-jeghers syndrome
wagr syndrome
hypotonia-cystinuria syndrome
chromosome xp11.3 deletion syndrome
epilepsy, partial, with variable foci
cardiomyopathy, dilated, 1i
myopathy, myofibrillar, 1
scapuloperoneal syndrome, neurogenic, kaeser type
deafness, autosomal dominant 5
deafness, autosomal recessive 31
usher syndrome, type iid
deafness, autosomal recessive 59
desmosterolosis
46,xy gonadal dysgenesis, complete or partial, dhh-related
46,xy gonadal dysgenesis, partial, with minifascicular neuropathy
deafness, autosomal dominant 1
premature ovarian failure 2a
auditory neuropathy, autosomal dominant, 1
pleuropulmonary blastoma
mental retardation, fra12a type
nephroblastomatosis, fetal ascites, macrosomia and wilms tumor
dyskeratosis congenita
hoyeraal hreidarsson syndrome
pyruvate dehydrogenase e2 deficiency
spondylocostal dysostosis 1, autosomal recessive
amelogenesis imperfecta, type iv
trichodentoosseous syndrome
cardiomyopathy, dilated, 3b
dimethylglycine dehydrogenase deficiency
human herpesvirus 6 encephalitis
hypophosphatemia, familial
hypophosphatemic rickets, autosomal recessive, 1
dystrophia myotonica 1
ciliary dyskinesia, primary, 13
ciliary dyskinesia, primary, 10
ciliary dyskinesia, primary, 7
primary ciliary dyskinesia, 3
ciliary dyskinesia, primary, 9
3-methylglutaconic aciduria, type v
dysentery
charcot-marie-tooth disease, dominant intermediate b
myopathy, centronuclear, 1
hereditary sensory and autonomic neuropathies
immunodeficiency-centromeric instability-facial anomalies syndrome 1
hyper-ige recurrent infection syndrome, autosomal recessive
pena shokeir syndrome, type 1
congenital disorder of glycosylation, type im
congenital disorder of glycosylation type 1j
diffuse panbronchiolitis
congenital disorder of glycosylation type 1e
congenital disorder of glycosylation, type io
paroxysmal ventricular fibrillation
varicose veins
dihydropyrimidine dehydrogenase deficiency
dihydropyrimidinase deficiency
psychoses, alcoholic
westphal disease
tremor hereditary essential, 1
novelty seeking personality trait
benign essential blepharospasm
arrhythmogenic right ventricular dysplasia, familial, 11
hypotrichosis and recurrent skin vesicles
keratosis palmoplantaris striata 1
arrhythmogenic right ventricular dysplasia, familial, 10
cardiomyopathy, dilated, 1bb
arrhythmogenic right ventricular dysplasia, familial, 8
epidermolysis bullosa, lethal acantholytic
keratosis palmoplantaris striata ii
skin fragility-woolly hair syndrome
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
dentin dysplasia, type ii
dentinogenesis imperfecta
dentinogenesis imperfecta, shields type 3
left ventricular noncompaction 1
thyroid dyshormonogenesis 6
thyroid dyshormonogenesis 5
dyggve-melchior-clausen syndrome
smith-mccort dysplasia
asphyxiating thoracic dystrophy 3
short rib-polydactyly syndrome
short rib-polydactyly syndrome, verma-naumoff type
limb-girdle muscular dystrophy, type 2b
myopathy, distal, with anterior tibial onset
familial paroxysmal dystonia
chondrodysplasia punctata 2, x-linked dominant
erythrocytosis, familial, 2
hirschsprung disease
lipoid proteinosis of urbach and wiethe
ectodermal dysplasia 1, anhidrotic
tooth agenesis, selective, x-linked, 1
ectodermal dysplasia 3, anhidrotic
ectodermal dysplasia, hypohidrotic, autosomal recessive
waardenburg syndrome, type 4
waardenburg syndrome, type 4a
waardenburg syndrome, type 4b
abcd syndrome
doyne honeycomb retinal dystrophy
cutis laxa, autosomal recessive, type ia
craniofrontonasal dysplasia
frontonasal dysplasia
hypomagnesemia 4, renal
polycystic kidney, autosomal recessive
erythrocytosis, familial, 3
charcot-marie-tooth disease, type 1d
charcot-marie-tooth disease, type 4e
prostate cancer, hereditary, 12
kleefstra syndrome
wolcott-rallison syndrome
leukoencephalopathy with vanishing white matter
myoclonic epilepsy, familial infantile
cyclic neutropenia
neutropenia, severe congenital, 1, autosomal dominant
aortic stenosis, supravalvular
cutis laxa
cutis laxa, autosomal dominant 1
stargardt disease 3
muscular dystrophy, emery-dreifuss
bowen-conradi syndrome
schizencephaly
amelogenesis imperfecta
amelogenesis imperfecta, type ib
amelogenesis imperfecta, type ic
glycogen storage disease xiii
arterial calcification of infancy
hypophosphatemic rickets, autosomal recessive, 2
erythrocytosis, familial, 4
elliptocytosis 1
spherocytosis, type 5
colorectal cancer, hereditary nonpolyposis, type 8
diarrhea 5, with tufting enteropathy, congenital
lynch syndrome i (site-specific colonic cancer)
absent corpus callosum cataract immunodeficiency
cataract, age-related cortical, 2
prostate cancer/brain cancer susceptibility
microvascular complications of diabetes, susceptibility to, 2
polycythemia, primary familial and congenital
lethal congenital contracture syndrome 2
cerebrooculofacioskeletal syndrome 4
cerebrooculofacioskeletal syndrome 2
trichothiodystrophy, photosensitive;ttdp ichthyosiform erythroderma with hair abnormality and mental and growth
xeroderma pigmentosum, complementation group d
xeroderma pigmentosum, complementation group b
xeroderma pigmentosum, complementation group f
xfe progeroid syndrome
cerebrooculofacioskeletal syndrome 1
xeroderma pigmentosum, complementation group g
cockayne syndrome
de sanctis-cacchione syndrome
uv-sensitive syndrome 1
roberts syndrome
sc phocomelia syndrome
deafness, autosomal recessive 36, with or without vestibular involvement
pyometra
deafness, autosomal recessive 35
multiple acyl coenzyme a dehydrogenase deficiency
ethylmalonic encephalopathy
myeloproliferative disorder, chronic, with eosinophilia
ellis-van creveld syndrome
weyers acrofacial dysostosis
pontocerebellar hypoplasia type 1
exostoses, multiple hereditary
exostoses, multiple, type i
exostoses, multiple, type ii
branchio-oto-renal syndrome
branchiootorenal syndrome 1
otofaciocervical syndrome
cardiomyopathy, dilated, 1j
deafness, autosomal dominant 10
myelodysplastic-myeloproliferative diseases
factor x deficiency
factor xi deficiency
factor xii deficiency
factor xiii deficiency
prothrombin deficiency, congenital
factor v deficiency
thrombophilia due to activated protein c resistance
thrombophilia, hereditary
factor vii deficiency
hemophilia b
thrombophilia, x-linked, due to factor ix defect
spastic paraplegia 35, autosomal recessive
leukodystrophy, hypomyelinating, 5
neuropathy, hereditary sensory and autonomic, type iib
raine syndrome
toe syndactyly, telecanthus, and anogenital and renal malformations
amelogenesis imperfecta, type iii
megalocytic interstitial nephritis
fanconi anemia, complementation group b
vacterl association with hydrocephaly, x-linked
fanconi anemia, complementation group c
fanconi anemia, complementation group d2
fanconi anemia, complementation group e
fanconi anemia, complementation group f
fanconi anemia, complementation group i
synpolydactyly 2
cutis laxa, recessive
macular degeneration, age-related, 3
arachnodactyly
ectopia lentis
ectopia lentis 1, isolated, autosomal dominant
mass syndrome
shprintzen golberg craniosynostosis
stiff skin syndrome
congenital contractural arachnodactyly
fructose-1,6-diphosphatase deficiency
parkinson disease 15, autosomal recessive early-onset
fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
poikiloderma of kindler
leukocyte adhesion deficiency, type iii
amyloidosis, familial
aarskog syndrome
charcot-marie-tooth disease, type 4h
aplasia of lacrimal and salivary glands
lacrimoauriculodentodigital syndrome
spinocerebellar ataxia 27
carcinoid heart disease
periapical periodontitis
hypophosphatemic rickets, autosomal dominant
tumoral calcinosis, hyperphosphatemic, familial
deafness, congenital, with inner ear agenesis, microtia, and microdontia
22q11 deletion syndrome
multiple synostoses syndrome 3
antley-bixler syndrome without genital anomalies or disordered steroidogenesis
jackson-weiss syndrome
osteoglophonic dwarfism
pfeiffer type acrocephalosyndactyly
trigonocephaly 1
ankylosis
cutis gyrata syndrome of beare and stevenson
plagiocephaly, nonsynostotic
scaphocephaly, maxillary retrusion, and mental retardation
achondroplasia
catshl syndrome
crouzon syndrome with acanthosis nigricans
hypochondroplasia
muenke syndrome
nevus, epidermal
thanatophoric dysplasia
thanatophoric dysplasia, type 1
thanatophoric dysplasia, type 2
fumaric aciduria
leiomyomatosis and renal cell cancer, hereditary
reed&apos;s syndrome
myopathy, reducing body, x-linked, childhood-onset
myopathy, reducing body, x-linked, early-onset, severe
myopathy, x-linked, with postural muscle atrophy
scapuloperoneal myopathy, x-linked dominant
amyotrophic lateral sclerosis 11
charcot-marie-tooth disease, type 4j
premature ovarian failure 6
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5
walker-warburg syndrome
cardiomyopathy, dilated, 1x
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4
birt-hogg-dube syndrome
oncocytoma, renal
pneumothorax, primary spontaneous
dermatitis, atopic, 2
ichthyosis vulgaris
cardiac valvular dysplasia, x-linked
congenital idiopathic intestinal pseudoobstruction
frontometaphyseal dysplasia
heterotopia, periventricular, ehlers-danlos variant
heterotopia, periventricular, x-linked dominant
oto-palato-digital syndrome type 1
oto-palato-digital syndrome, type 2
terminal osseous dysplasia
atelosteogenesis, type 1
atelosteogenesis, type iii
boomerang dysplasia
larsen syndrome, dominant type
spondylocarpotarsal synostosis
filaminopathy, autosomal dominant
lymphedema, hereditary, ia
posterior column ataxia with retinitis pigmentosa
encephaloclastic proliferative vasculopathy
amyotrophic lateral sclerosis, sporadic
fragile x mental retardation syndrome
fragile x tremor ataxia syndrome
glomerulopathy with fibronectin deposits
keratoconus
brain diseases, metabolic, inborn
neurodegeneration due to cerebral folate transport deficiency
amyloid neuropathies, familial
embolism, amniotic fluid
axenfeld-rieger syndrome, type 1
axenfeld-rieger syndrome, type 3
iridogoniodysgenesis, type 1
lymphedema distichiasis syndrome
lymphedema, hereditary, ii
yellow nail syndrome
aphakia, congenital primary
rett syndrome, congenital variant
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 1
bpes with duane retraction syndrome
premature ovarian failure 3
t-cell immunodeficiency, congenital alopecia and nail dystrophy
mental retardation with language impairment and autistic features
speech-language disorder 1
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked
mitochondrial complex i deficiency
fraser syndrome
bifid nose
bifid nose with or without anorectal and renal anomalies
hereditary renal agenesis
marles greenberg persaud syndrome
nystagmus 1, congenital, x- linked
retinitis pigmentosa 30
follicle-stimulating hormone deficiency, isolated
facioscapulohumeral muscular dystrophy 1b
ovarian dysgenesis 1
glutamate formiminotransferase deficiency
hyperferritinemia, hereditary, with congenital cataracts
neurodegeneration with brain iron accumulation 3
growth retardation, developmental delay, coarse facies, and early death
mental retardation, x-linked 9
fucosidosis
amyotrophic lateral sclerosis 6, autosomal recessive
caliciviridae infections
vitamin b12 plasma level quantitative trait locus 1
exudative vitreoretinopathy 1
glycogen storage disease type i
neutropenia, severe congenital, 4, autosomal recessive
anemia, hemolytic, congenital nonspherocytic
favism
phagocyte bactericidal dysfunction
glycogen storage disease type ii
entropion
generalized epilepsy with febrile seizures plus, type 1
generalized epilepsy with febrile seizures plus, type 3
cerebral palsy, spastic quadriplegic, 1
leukodystrophy, globoid cell
galactosemias
mucopolysaccharidosis iv
guanidinoacetate methyltransferase deficiency
giant axonal neuropathy
charcot-marie-tooth disease, type 2d
thrombocytopenia with beta-thalassemia, x-linked
thrombocytopenia, x-linked, with or without dyserythropoietic anemia
barakat syndrome
arginine:glycine amidinotransferase deficiency
gaucher disease, perinatal lethal
gaucher-like disease
glycogen storage disease type iv
glucocorticoid deficiency 2
glutaric aciduria 1
hyperphenylalaninemia, bh4-deficient, b
hyperinsulinemic hypoglycemia, familial, 3
maturity-onset diabetes of the young
maturity-onset diabetes of the young, type 2
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
cataract, congenital or juvenile
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
charcot-marie-tooth disease, recessive intermediate a
charcot-marie-tooth disease, type 2k
charcot-marie-tooth disease, type 4a
klippel-feil syndrome 3, autosomal dominant
microphthalmia, isolated 7
microphthalmia, isolated, with coloboma 6
acromesomelic dysplasia hunter-thompson type
brachydactyly type c
chondrodysplasia, grebe type
cushing&apos;s symphalangism
fibular hypoplasia and complex brachydactyly
multiple synostoses syndrome 2
klippel-feil syndrome
klippel feil syndrome dominant type
microphthalmia, isolated 4
spondylocostal dysostosis 5, autosomal dominant
mental retardation, x-linked 3
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
neutropenia, nonimmune chronic idiopathic, of adults
neutropenia, severe congenital, 2, autosomal dominant
combined oxidative phosphorylation deficiency 1
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
vitamin k-dependent clotting factors, combined deficiency of, 1
glutathionuria
isolated growth hormone deficiency, type ia
isolated growth hormone deficiency, type ib
isolated growth hormone deficiency, type ii
kowarski syndrome
short stature, idiopathic, autosomal
turner syndrome
laron syndrome
goldenhar syndrome
digestive system neoplasms
intrinsic factor deficiency
parkinson disease 11, autosomal dominant
fibromatosis, gingival, 1
hallermann&apos;s syndrome
oculodentodigital dysplasia
oculodentodigital dysplasia, autosomal recessive
syndactyly, type 3
cataract, zonular pulverulent 3
atrial standstill
cataract microcornea syndrome
cataract, zonular pulverulent 1
charcot-marie-tooth disease, x-linked, 1
deafness, autosomal dominant 3a
deafness, autosomal recessive 1a
ichthyosis, hystrix-like, with deafness
keratitis-ichthyosis-deafness syndrome, autosomal dominant
keratoderma palmoplantar deafness
knuckle pads, leuconychia and sensorineural deafness
vohwinkel syndrome
deafness, autosomal dominant 2a
deafness, autosomal dominant 2b
erythrokeratodermia variabilis
deafness, autosomal dominant 3b
deafness, autosomal recessive 1b
ectodermal dysplasia 2, hidrotic
leukodystrophy, hypomyelinating, 2
lymphedema, hereditary, ic
spastic paraplegia 44, autosomal recessive
hyperglycerolemia
angiokeratoma
fabry disease
gangliosidosis, gm1
lethal arthrogryposis with anterior horn cell disease
lethal congenital contracture syndrome 1
basal cell nevus syndrome
holoprosencephaly 9
greig cephalopolysyndactyly syndrome
hypothalamic hamartomas
pallister-hall syndrome
polydactyly, postaxial, type a1
polydactyly, preaxial 4
nephronophthisis 7
diabetes mellitus, neonatal, with congenital hypothyroidism
glomus vagale tumors
hyperexplexia hereditary
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
hyperinsulinemic hypoglycemia, familial, 6
glutamine deficiency, congenital
tay-sachs disease, ab variant
ventricular tachycardia, familial
albright&apos;s hereditary osteodystrophy
brachydactyly
cafe-au-lait spots
fibrous dysplasia, polyostotic
osseous heteroplasia, progressive
pseudohypoparathyroidism type 1b
pseudohypoparathyroidism, type ia
pseudopseudohypoparathyroidism
night blindness, congenital stationary, autosomal dominant 3
distal myopathy, nonaka type
inclusion body myopathy autosomal recessive
sialic acid storage disease
glycine n-methyltransferase deficiency
rhizomelic chondrodysplasia punctata, type 2
mucolipidosis ii alpha/beta
mucolipidosis iii alpha/beta
mucolipidosis iii gamma
fertile eunuch syndrome
gerodermia osteodysplastica
bernard-soulier syndrome
bernard-soulier syndrome, type a2, autosomal dominant
nonarteritic anterior ischemic optic neuropathy, susceptibility to
von willebrand disease, platelet type
simpson-golabi-behmel syndrome, type 1
omodysplasia type 1
brugada syndrome 2
molybdenum cofactor deficiency
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
nystagmus 6, congenital, x-linked
ocular albinism type 1
polymicrogyria, bilateral frontoparietal
febrile seizures, familial, 4
usher syndrome, type 2c
chudley-mccullough syndrome
deafness, autosomal dominant 28
primary hyperoxaluria type 2
mental retardation, x-linked 94
mental retardation, autosomal recessive 6
oguchi disease
night blindness, congenital stationary, type 1b
frontotemporal lobar degeneration with tdp43 inclusions, grn-related
meretoja syndrome
glutathione synthetase deficiency
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
cone dystrophy 3
amaurosis congenita of leber, type 1
cone-rod dystrophy 5
retinal cone dystrophy 2
mucopolysaccharidosis vii
glycogen storage disease xv
glycogen storage disease 0, muscle
glycogen storage disease 0, liver
cortisone reductase deficiency
3-hydroxyacyl-coa dehydrogenase deficiency
hyperinsulinemic hypoglycemia, familial, 4
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
trifunctional protein deficiency
histidinemia
biliary atresia
hemochromatosis, type 2a
hemochromatosis, type 2b
dwarfism
ige responsiveness, atopic
neutropenia, severe congenital, 3, autosomal recessive
alpha-thalassemia
heinz body anemias
beta-thalassemia, dominant inclusion body type
hemoglobinopathies
progressive familial heart block, type ia
progressive familial heart block, type ib
thyroid cancer, hurthle cell
microphthalmia, syndromic 7
brugada syndrome 8
sick sinus syndrome 2, autosomal dominant
high density lipoprotein cholesterol level quantitative trait locus 6
spondylocostal dysostosis 4, autosomal recessive
hypopituitarism and septooptic &apos;dysplasia&apos;
tay-sachs disease
sandhoff disease
microvascular complications of diabetes, susceptibility to, 7
porphyria, south african type
alkaptonuria
deafness, autosomal recessive 39
beta-hydroxyisobutyryl coa deacylase deficiency
inherited peripheral neuropathy
hemolytic anemia, nonspherocytic, due to hexokinase deficiency
creutzfeldt-jakob syndrome
holocarboxylase synthetase deficiency
lipomatosis, multiple
hmg coa lyase deficiency
3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency
marie unna congenital hypotrichosis
oculoauricular syndrome
diabetes mellitus, insulin-dependent, 20
hepatic adenomas, familial
maturity-onset diabetes of the young, type 3
prostate cancer, hereditary, 11
renal cysts and diabetes syndrome
maturity-onset diabetes of the young, type 1
hyperoxaluria, primary, type iii
athabaskan brainstem dysgenesis
radioulnar synostosis with amegakaryocytic thrombocytopenia
hand foot uterus syndrome
preaxial deficiency, postaxial polydactyly and hypospadias
microtia, hearing impairment, and cleft palate
lymphatic abnormalities
vertical talus, congenital
brachydactyly-syndactyly syndrome
brachydactyly, type d
brachydactyly, type e1
syndactyly, type v
synpolydactyly 1
vater association
hawkinsinuria
digital clubbing, isolated congenital
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
osteoarthropathy, primary hypertrophic
hyperpigmentation, familial progressive, 2
osteoblastoma
kelley-seegmiller syndrome
lesch-nyhan syndrome
urofacial syndrome
alopecia universalis
atrichia with papular lesions
nevus, sebaceous of jadassohn
thrombophilia due to histidine-rich glycoprotein deficiency
obesity, abdominal
hydroxyacyl-coa dehydrogenase, type 2, deficiency
mental retardation, x-linked 17
mental retardation, x-linked, syndromic 10
17-hydroxysteroid dehydrogenase deficiency
peroxisomal disorders
adrenal hyperplasia 2
bile acid synthesis defect, congenital, 1
cataract, zonular
heat stress disorders
knee injuries
osteochondritis
charcot-marie-tooth disease, type 2f
neuronopathy, distal hereditary motor, type iib
neuronopathy, distal hereditary motor, type iic
charcot-marie-tooth disease, axonal, type 2l
neuronopathy, distal hereditary motor, type iia
leukodystrophy, hypomyelinating, 4
spastic paraplegia 13, autosomal dominant
dyssegmental dysplasia
macular degeneration, age-related, 7
parkinson disease 13, autosomal dominant, susceptibility to
mental retardation, x-linked, syndromic, turner type
mucopolysaccharidosis type ix
hydrolethalus syndrome 1
diabetes mellitus, transient neonatal, 1
inflammatory bowel disease 25, autosomal recessive
idiopathic basal ganglia calcification 1
endocrine-cerebroosteodysplasia
diabetes mellitus, insulin-dependent, 10
diabetes mellitus, insulin-dependent, 2
enchondromatosis
d-2-hydroxyglutaric aciduria 2
mucopolysaccharidosis ii
mucopolysaccharidosis i
diabetes mellitus, insulin-dependent, 19
hemangioendothelioma, epithelioid
appendicitis
legionnaires&apos; disease
ciliary motility disorders
cranioectodermal dysplasia
asphyxiating thoracic dystrophy 2
corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
insulin-like growth factor i deficiency
insulin-like growth factor i, resistance to
agammaglobulinemia 1, autosomal recessive
spinal muscular atrophy with respiratory distress 1
dysgammaglobulinemia
hemihyperplasia, isolated
acrocapitofemoral dysplasia
dysautonomia, familial
atypical mycobacteriosis, familial, x-linked 1
ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
ectodermal dysplasia, hypohidrotic, with immune deficiency
immunodeficiency without anhidrotic ectodermal dysplasia
incontinentia pigmenti
invasive pneumococcal disease, recurrent isolated, 2
superinfection
inflammatory bowel disease 28, autosomal recessive
central serous chorioretinopathy
angioid streaks
anthracosis
kearns-sayre syndrome
merrf syndrome
gastritis, atrophic
mental retardation, x-linked 21
microvascular complications of diabetes, susceptibility to, 4
osteomyelitis, sterile multifocal, with periostitis and pustulosis
inflammatory bowel disease 17
interleukin 2 receptor, alpha, deficiency of
severe combined immunodeficiency, x-linked
x-linked combined immunodeficiency diseases
tuberculosis, bovine
diaper rash
deafness, autosomal recessive 42
retinitis pigmentosa 10
retinitis pigmentosa 56
joubert syndrome 1
morm syndrome
maturity-onset diabetes of the young, type 10
telomeric 22q13 monosomy syndrome
diabetes mellitus, insulin-resistant, with acanthosis nigricans
donohue syndrome
hyperinsulinemic hypoglycemia, familial, 5
nephronophthisis 2
senior-loken syndrome 5
mental retardation, x-linked 1
asthma-related traits, susceptibility to, 5
invasive pneumococcal disease, recurrent isolated, 1
irak4 deficiency
inflammatory bowel disease 14
orofacial cleft 6, susceptibility to
popliteal pterygium syndrome
van der woude syndrome
myopathy with lactic acidosis, hereditary
autoimmune disease, syndromic multisystem
thrombasthenia
epidermolysis bullosa junctionalis with pyloric atresia
muscular dystrophy, congenital, due to integrin alpha-7 deficiency
leukocyte-adhesion deficiency syndrome
leukocyte adhesion deficiency, type i
thrombocytopenia, neonatal alloimmune
epidermolysis bullosa simplex
lymphoproliferative syndrome, ebv-associated, autosomal, 1
dementia, familial british
dementia, familial danish
spinocerebellar ataxia 15
spinocerebellar ataxia 29
heterotaxy, visceral, 5, autosomal
acidemia, isovaleric
thyroid dyshormonogenesis 4
alagille syndrome
hemorrhagic destruction of the brain, subependymal calcification, and cataracts
huntington disease-like 2
arrhythmogenic right ventricular dysplasia, familial, 12
naxos disease
cerebral palsy, spastic quadriplegic, 2
charcot-marie-tooth disease, recessive intermediate b
nemaline myopathy 6
episodic ataxia, type 1
atrial fibrillation, familial, 7
spinocerebellar ataxia 13
jervell-lange nielsen syndrome
long qt syndrome 5
atrial fibrillation, familial, 3
atrial fibrillation, familial, 4
long qt syndrome 6
brugada syndrome 6
paralysis, hyperkalemic periodic
long qt syndrome 2
short qt syndrome 1
bartter syndrome, antenatal , type 2
seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
diabetes mellitus, transient neonatal, 3
hyperinsulinemic hypoglycemia, familial, 2
snowflake vitreoretinal degeneration
andersen syndrome
short qt syndrome 3
long qt syndrome 13
birk-barel mental retardation dysmorphism syndrome
generalized epilepsy and paroxysmal dyskinesia
hypertension, diastolic, resistance to
romano-ward syndrome
short qt syndrome 2
epileptic encephalopathy, early infantile, 7
seizures, benign familial neonatal, 1
seizures, benign familial neonatal, 2
retinal cone dystrophy 3b
epilepsy, progressive myoclonic 3, with or without intracellular inclusions
mental retardation, x-linked, syndromic, jarid1c-related
cornea plana 2
fructosuria
spastic paraplegia 8, autosomal dominant
goldberg-shprintzen megacolon syndrome
charcot-marie-tooth disease, axonal, type 2a1
fibrosis of extraocular muscles, congenital, 1
spastic paraplegia 10, autosomal dominant
hydrolethalus syndrome
mental retardation, autosomal dominant 4
precocious puberty, central
piebaldism
testicular germ cell tumor
maturity-onset diabetes of the young, type 7
retinitis pigmentosa 42
amelogenesis imperfecta pigmented hypomaturation type
prekallikrein deficiency
flaujeac factor deficiency
noonan syndrome 3
ichthyosis, cyclic, with epidermolytic hyperkeratosis
ichthyosis hystrix, curth macklin type
keratoderma, palmoplantar, epidermolytic
keratosis palmoplantaris striata 3
palmoplantar keratoderma, nonepidermolytic
erythroderma, ichthyosiform, congenital reticular
corneal dystrophy, juvenile epithelial of meesmann
leukokeratosis, hereditary mucosal
dermatopathia pigmentosa reticularis
epidermolysis bullosa simplex, autosomal recessive
naegeli syndrome
pachyonychia congenita
palmoplantar keratoderma, nonepidermolytic, focal
pachyonychia congenita jackson lawler type
steatocystoma multiplex
cirrhosis, familial
ichthyosis bullosa of siemens
dowling-degos disease
epidermolysis bullosa simplex with migratory circinate erythema
epidermolysis bullosa simplex with mottled pigmentation
adenoma, oxyphilic
woolly hair, autosomal dominant
pseudofolliculitis barbae
monilethrix
ectodermal dysplasia 4, hair/nail type
hydroxykynureninuria
corpus callosum, partial agenesis of, x-linked
hydrocephalus, x-linked
masa (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome
l-2-hydroxyglutaric aciduria
muscular dystrophy congenital, merosin negative
epidermolysis bullosa, junctional
laryngo onycho cutaneous syndrome
mesangial sclerosis, diffuse
pierson syndrome
pelvic organ prolapse
glycogen storage disease type iib
immunodeficiency due to defect in mapbp-interacting protein
laryngeal adductor paralysis
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
pelger-huet anomaly
reynolds syndrome
amaurosis congenita of leber, type 5
lecithin acyltransferase deficiency
blue cone monochromatism
lactase deficiency, congenital
lactose intolerance, adult type
myopathy, myofibrillar, 4
lactate dehydrogenase deficiency type a
splenic rupture
hypercholesterolemia, autosomal recessive
buschke-ollendorff syndrome
melorheostosis
overweight
osteogenesis imperfecta, type viii
wolf-hirschhorn syndrome
spondylocostal dysostosis 3, autosomal recessive
epilepsy, familial temporal lobe, 1
familial testotoxicosis
leydig cell hypoplasia, type i
deafness, autosomal recessive 67
pituitary hormone deficiency, combined, 2
winkelman bethge pfeiffer syndrome
pituitary hormone deficiency, combined, 4
stuve-wiedemann syndrome
lig4 syndrome
lysosomal acid lipase deficiency
high density lipoprotein cholesterol level quantitative trait locus 12
charcot-marie-tooth disease, type 1c
factor v and factor viii, combined deficiency of, 1
acheiropodia
polydactyly, preaxial ii
syndactyly, type iv
methylmalonic aciduria and homocystinuria, cblf type
lipase deficiency combined
charcot-marie-tooth disease, type 2b1
heart-hand syndrome, slovenian type
hutchinson gilford progeria syndrome
limb-girdle muscular dystrophy, type 1b
lipodystrophy, familial partial, type 2
mandibuloacral dysplasia with type a lipodystrophy
muscular dystrophy, congenital, lmna-related
progeria
tight skin contracture syndrome, lethal
pelizaeus-merzbacher disease
lipodystrophy, partial, acquired, susceptibility to
nail-patella syndrome
vohwinkel syndrome, variant form
myoglobinuria, acute recurrent, autosomal recessive
majeed syndrome
leber congenital amaurosis 14
donnai-barrow syndrome
syndactyly cenani lenz type
exudative vitreoretinopathy 4
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
osteopetrosis autosomal dominant type 1
van buchem disease type 2
vitreoretinopathy, proliferative
coronary artery disease, autosomal dominant 2
leigh syndrome , french canadian type
parkinson disease 8, autosomal dominant
deafness, autosomal recessive 63
glaucoma 3, primary congenital, d
tooth agenesis, selective, 6
cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
chediak-higashi syndrome
cataract, pulverulent, juvenile-onset
major affective disorder 1
mental retardation, x-linked 95
hypospadias 2, x-linked
alpha-mannosidosis
beta-mannosidosis
brunner syndrome
progressive supranuclear palsy atypical
deafness, autosomal recessive 49
masp2 deficiency
methionine adenosyltransferase deficiency
epiphyseal dysplasia, multiple, 5
spondyloepimetaphyseal dysplasia, matrilin-3 related
mental retardation, autosomal dominant 1
ichthyosis follicularis atrichia photophobia syndrome
melanoma, cutaneous malignant, susceptibility to, 5
oculocutaneous albinism type 2
protein-losing enteropathies
glucocorticoid deficiency 1
body mass index quantitative trait locus 9
3-methylcrotonyl coa carboxylase 1 deficiency
3-methylcrotonyl coa carboxylase 2 deficiency
methylmalonyl-coa epimerase deficiency
factor v and factor viii, combined deficiency of, 2
medullary cystic kidney disease 1
mucolipidoses
mucolipidosis iv
microcephaly 1, primary, autosomal recessive
autism, susceptibility to, x-linked 3
encephalopathy, neonatal severe, due to mecp2 mutations
lubs x-linked mental retardation syndrome
mental retardation, x-linked, syndromic 13
lujan fryns syndrome
transposition of the great arteries, dextro-looped 1
microcephaly, postnatal progressive, with seizures and brain atrophy
charcot-marie-tooth disease, type 2b2
coronary artery disease, autosomal dominant, 1
mental retardation, autosomal dominant 20
familial mediterranean fever, autosomal dominant
gastrinoma
glucagonoma
multiple endocrine neoplasia type 1
spondylocostal dysostosis 2, autosomal recessive
charcot-marie-tooth disease, axonal, type 2a2
hereditary motor and sensory neuropathy vi
microphthalmia, isolated 5
nanophthalmos 2
ceroid lipofuscinosis, neuronal, 7
congenital disorder of glycosylation type 2a
keutel syndrome
opitz gbbb syndrome, x-linked
laurin-sandrow syndrome
deafness, autosomal dominant 50
albinism ocular late onset sensorineural deafness
albinism, oculocutaneous
tietz syndrome
waardenburg syndrome type 2
waardenburg syndrome type 2a
mckusick kaufman syndrome
meckel syndrome type 1
megalencephalic leukoencephalopathy with subcortical cysts
cafe au lait spots, multiple
lynch syndrome ii
muir-torre syndrome
kabuki syndrome
griscelli syndrome type 3
methylmalonic aciduria cbla type
methylmalonic aciduria cblb type
methylmalonic acidemia with homocystinuria
methylmalonic aciduria and homocystinuria, cbld type
cryopyrin-associated periodic syndromes
spondyloepimetaphyseal dysplasia, missouri type
torg-winchester syndrome
amelogenesis imperfecta, hypomaturation type, iia2
histiocytoma, benign fibrous
actinobacillus infections
fusobacterium infections
metaphyseal anadysplasia 2
meningioma, familial
classical lissencephalies and subcortical band heterotopias
currarino triad
congenital disorder of glycosylation, type iib
congenital disorder of glycosylation type 1f
congenital disorder of glycosylation type 1b
congenital amegakaryocytic thrombocytopenia
amish brittle hair brain syndrome
myeloperoxidase deficiency
mitochondrial dna depletion syndrome 6 (hepatocerebral type)
charcot-marie-tooth disease, dominant intermediate d
charcot-marie-tooth disease, type 2i
charcot-marie-tooth disease, type 2j
roussy-levy hereditary areflexic dystasia
ataxia-telangiectasia-like disorder
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 5
mental retardation, autosomal recessive 4
mental retardation, x-linked 72
neurofibromatosis 1
prostate cancer, hereditary, 13
deafness, autosomal recessive 74
keratoacanthoma familial
myostatin-related muscle hypertrophy
orofacial cleft 5
tooth agenesis, selective, 1
witkop syndrome
craniosynostosis, type 2
parietal foramina with cleidocranial dysplasia
eye burns
nevus
blood coagulation disorders, inherited
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
orofacial cleft 1
myopathy, centronuclear, x-linked
charcot-marie-tooth disease, type 4b1
spastic ataxia 4, autosomal recessive
methylcobalamin deficiency, cblg type
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
abetalipoproteinemia
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
colorectal adenomatous polyposis, autosomal recessive
mevalonate kinase deficiency
porokeratosis, disseminated superficial actinic 1
influenza in birds
cardiomyopathy, familial hypertrophic, 4
cardiomyopathy, hypertrophic, familial
oculodigitoesophagoduodenal syndrome
myd88 deficiency
aortic aneurysm, familial thoracic 4
deafness, autosomal dominant 4a
inclusion body myopathy, autosomal dominant
distal arthrogryposis type 2b
freeman-sheldon syndrome
cardiomyopathy, dilated, 1ee
cardiomyopathy, familial hypertrophic, 14
cardiomyopathy, dilated, 1s
myopathy, myosin storage
scapuloperoneal myopathy, myh7-related
carney complex variant
hecht syndrome
deafness, autosomal dominant 17
epstein syndrome
fechtner syndrome
macrothrombocytopenia progressive deafness
may-hegglin anomaly
sebastian syndrome
cardiomyopathy, familial hypertrophic, 10
cardiomyopathy, familial hypertrophic, 8
deafness, autosomal recessive 3
deafness, autosomal dominant 48
deafness, autosomal recessive 30
griscelli syndrome type 1
microvillus inclusion disease
deafness, autosomal dominant 22;dfna22 deafness, autosomal dominant 22, with hypertrophic cardiomyopathy,
deafness, autosomal recessive 37
deafness, autosomal dominant 11
deafness, autosomal recessive 2
usher syndromes
usher syndrome, type 1b
muscular dystrophy, limb-girdle, type 1a
myopathy, myofibrillar, 3
spheroid body myopathy
solitary fibrous tumors
kanzaki disease
schindler disease, type 1
n-acetyl glutamate synthetase deficiency
gray platelet syndrome
nijmegen breakage syndrome
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii
hidradenitis suppurativa, familial
optic atrophies, hereditary
exudative vitreoretinopathy 2, x-linked
norrie disease
neuropathy, hereditary motor and sensory, lom type
nemaline myopathy 2
charcot-marie-tooth disease, type 1f
charcot-marie-tooth disease, type 2e
never in mitosis gene a-related kinase 1
neuraminidase 1 deficiency
maturity-onset diabetes of the young, type 6
diarrhea 4, malabsorptive, congenital
cardiomyopathy, dilated, 1cc
neurofibromatoses
neurofibromatosis, familial spinal
neurofibromatosis-noonan syndrome
watson syndrome
neurofibromatosis 2
schwannomatosis
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant
neuropathy, hereditary sensory and autonomic, type v
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
dyskeratosis congenita, autosomal recessive
nance-horan syndrome
spastic paraplegia 6, autosomal dominant
ichthyosis, congenital, autosomal recessive 6
de lange syndrome
choreoathetosis, hypothyroidism, and neonatal respiratory distress
atrial septal defect 7 with or without atrioventricular conduction defects
hypothyroidism, congenital, nongoitrous, 5
spondylo-megaepiphyseal-metaphyseal dysplasia
asperger syndrome, x-linked, susceptibility to, 1
autism, susceptibility to, x-linked 1
asperger syndrome, x-linked, susceptibility to, 2
autism, susceptibility to, x-linked 2
vitiligo-associated multiple autoimmune disease susceptibility 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 1
muckle-wells syndrome
hydatidiform mole
ciliary dyskinesia, primary, 6
hereditary macular coloboma
premature ovarian failure 5
sarcoidosis, early-onset
synovitis granulomatous with uveitis and cranial neuropathies
brachydactyly, type b2
multiple synostoses syndrome 1
stapes ankylosis with broad thumb and toes
tarsal carpal coalition syndrome
pyloric stenosis, infantile hypertrophic, 1
hajdu-cheney syndrome
cadasil
niemann-pick disease, type c2
joubert syndrome 4
nephronophthisis, familial juvenile
senior-loken syndrome 1
nephronophthisis 3
renal-hepatic-pancreatic dysplasia
renal hepatic pancreatic dysplasia dandy walker cyst
nephronophthisis 4
senior-loken syndrome 4
nephrotic syndrome, idiopathic, steroid-resistant
atrial fibrillation, familial, 6
acromesomelic dysplasia, maroteaux type
asthma-related traits, susceptibility to, 2
dosage-sensitive sex reversal
enhanced s-cone syndrome
retinitis pigmentosa 37
46, xx disorders of sex development
acanthosis nigricans
hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
chondrosarcoma, extraskeletal myxoid
46,xy sex reversal 3
gonadal dysgenesis, 46,xx
gonadal dysgenesis, 46,xy
premature ovarian failure 7
neurofibrosarcoma
noonan syndrome 6
sotos syndrome
weaver syndrome
ck syndrome
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
calcification of joints and arteries
glaucoma 1, open angle, o
familial medullary thyroid carcinoma
striatonigral degeneration infantile
night blindness, congenital stationary, type 1a
ornithine aminotransferase deficiency
three m syndrome 2
band-like calcification with simplified gyration and polymicrogyria
dent disease 2
oculocerebrorenal syndrome
joubert syndrome 10
orofaciodigital syndrome type1
simpson-golabi-behmel syndrome, type 2
alpha-ketoglutarate dehydrogenase deficiency
glaucoma, normal tension, susceptibility to
optic atrophy 1 and deafness
costeff optic atrophy syndrome
optic atrophy and cataract, autosomal dominant
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
colorblindness, partial, deutan series
tritanopia
hip contracture
lordosis
osteoarthritis, spine
shoulder dislocation
amyotrophic lateral sclerosis 12
immune dysfunction with t-cell inactivation due to calcium entry defect 1
amyloidosis ix
osteopetrosis, autosomal recessive 1
osteopetrosis, autosomal recessive 5
ornithine transcarbamylase deficiency, hyperammonemia due to
deafness, autosomal recessive 22
deafness, autosomal recessive 9
microphthalmia, syndromic 5
succinyl-coa:3-oxoacid coa transferase deficiency
bleeding disorder, platelet-type, 8
muscular dystrophy, oculopharyngeal
lissencephaly
phenylketonurias
mental retardation, x-linked 30
fanconi anemia, complementation group n
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
pantothenate kinase-associated neurodegeneration
spondyloepimetaphyseal dysplasia, pakistani type
parkinson disease 4, autosomal dominant lewy body
parkinson disease 7, autosomal recessive early-onset
papillorenal syndrome
craniofacial deafness hand syndrome
waardenburg syndrome
maturity-onset diabetes of the young, type 9
aniridia
aniridia cerebellar ataxia mental deficiency
aniridia, type 2
coloboma of optic nerve
ectopia pupillae
foveal hypoplasia and presenile cataract syndrome
keratitis, hereditary
optic nerve hypoplasia, bilateral
hypothyroidism, congenital, nongoitrous, 2
tooth agenesis, selective, 3
pyruvate carboxylase deficiency disease
hyperphenylalaninemia, bh4-deficient, d
propionic acidemia
deafness, autosomal recessive 23
usher syndrome, type 1f
epileptic encephalopathy, early infantile, 9
phosphoenolpyruvate carboxykinase deficiency
phosphoenolpyruvate carboxykinase 2 deficiency
microcephalic osteodysplastic primordial dwarfism, type ii
seckel syndrome 2
body mass index quantitative trait locus 12
proprotein convertase 1/3 deficiency
tracheoesophageal fistula
hypercholesterolemia, autosomal dominant, 3
cerebral cavernous malformations 3
pigmented nodular adrenocortical disease, primary, 2
night blindness, congenital stationary
night blindness, congenital stationary, autosomal dominant 2
cone dystrophy 4
retinitis pigmentosa 57
retinal cone dystrophy 3a
striatal degeneration, autosomal dominant
hypereosinophilic syndrome, idiopathic
leigh syndrome, x-linked
pyruvate dehydrogenase complex deficiency disease
pyruvate metabolism, inborn errors
pyruvate dehydrogenase e3-binding protein deficiency
pyruvate dehydrogenase phosphatase deficiency
maturity-onset diabetes of the young, type 4
pancreatic agenesis, congenital
spinocerebellar ataxia 23
prolidase deficiency
advanced sleep-phase syndrome, familial
peroxisome biogenesis disorder 2b
peroxisome biogenesis disorders
refsum disease, infantile
chondrodysplasia punctata, rhizomelic
rhizomelic chondrodysplasia punctata, type 1
glycogen storage disease type vii
dimauro disease
phosphoglycerate kinase 1 deficiency
glycogen storage disease xiv
borjeson-forssman-lehmann syndrome
siderius x-linked mental retardation syndrome
phosphoglycerate dehydrogenase deficiency
glycogen storage disease, type ixd
glycogen storage disease ixa1
glycogen storage disease ixb
glycogen storage disease ixc
fibrosis of extraocular muscles, congenital, 2
hyperphosphatasia with mental retardation syndrome 1
corneal dystrophy, fleck
parkinson disease 6, autosomal recessive early-onset
lethal congenital contractural syndrome 3
iridogoniodysgenesis, type 2
ring dermoid of cornea
cataract, posterior polar, 4
polycystic kidney disease, type 2
adenosine triphosphate, elevated, of erythrocytes
pyruvate kinase deficiency of red cells
ectodermal dysplasia/ skin fragility syndrome
arrhythmogenic right ventricular dysplasia, familial, 9
neurodegeneration with brain iron accumulation 2a
neurodegeneration with brain iron accumulation 2b
parkinson disease 14, autosomal recessive
salivary gland adenoma, pleomorphic
thrombophilia, familial, due to decreased release of tissue plasminogen activator;thph9 hyperfibrinolysis, familial, due to increased release of tissue plasminogen
epileptic encephalopathy, early infantile, 12
nephrotic syndrome, type 3
epidermolysa bullosa simplex and limb girdle muscular dystrophy
epidermolysis bullosa simplex, ogna type
epidermolysis bullosa simplex with pyloric atresia
muscular dystrophy, limb-girdle, type 2q
spinal muscular atrophy, distal, autosomal recessive, 4
osteopetrosis, autosomal recessive 6
pulmonary function
plasminogen deficiency, type i
cardiomyopathy, dilated, 1p
ehlers-danlos syndrome type 6
nevo syndrome
bruck syndrome 2
bone fragility with contractures, arterial rupture, and deafness
spastic paraplegia 2, x-linked
congenital disorder of glycosylation type 1a
charcot-marie-tooth disease, demyelinating, type 1e
neuropathy, hereditary, with liability to pressure palsies
dna repair-deficiency disorders
epileptic encephalopathy, early infantile, 10
purine nucleoside phosphorylase deficiency
neutral lipid storage disease with myopathy
spastic paraplegia 39, autosomal recessive
pyridoxamine 5-prime-phosphate oxidase deficiency
premature ovarian failure 2b
diffuse cerebral sclerosis of schilder
mitochondrial dna depletion syndrome 1 (mngie type)
mitochondrial dna depletion syndrome 4a (alpers type)
mitochondrial dna depletion syndrome 4b (mngie type)
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4
xeroderma pigmentosum, variant type
mandibulofacial dysostosis
mandibulofacial dysostosis, treacher collins type, autosomal recessive
treacher collins syndrome 2
acth syndrome, ectopic
aortic stenosis, subvalvular
proopiomelanocortin deficiency
rhabdomyoma
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3
keratosis linearis with ichthyosis congenita and sclerosing keratoderma
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2
microvascular complications of diabetes, susceptibility to, 5
adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency
antley-bixler syndrome with genital anomalies and disordered steroidogenesis
disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
focal dermal hypoplasia
chromosome disorders
dwarfism, pituitary
pituitary hormone deficiency, combined, 1
progressive hearing loss stapes fixation
deafness, autosomal dominant 15
gestational trophoblastic disease
carotid intimal medial thickness 1
lipodystrophy, familial partial, type 3
juvenile osteoporosis
osteogenesis imperfecta, type ix
spinocerebellar ataxia 12
ceroid lipofuscinosis, neuronal, 1
renpenning syndrome 1
pierre robin syndrome
hemophagocytic lymphohistiocytosis, familial, 2
jacobs syndrome
epilepsy, progressive myoclonic, 1b
cardiomyopathy, familial hypertrophic, 6
glycogen storage disease of heart, lethal congenital
carbohydrate metabolism, inborn errors
atrial myxoma, familial
pigmented nodular adrenocortical disease, primary, 1
spinocerebellar ataxia 14
gerstmann-straussler-scheinker disease
huntington disease-like 1
insomnia, fatal familial
spongiform encephalopathy with neuropsychiatric features
congenital thrombotic disease, due to protein c deficiency
thrombophilia due to protein c deficiency, autosomal recessive
hyperprolinemia
cone-rod dystrophy 12
macular dystrophy, retinal, 2
retinitis pigmentosa 41
stargardt disease 4
thrombophilia due to protein s deficiency, autosomal dominant
retinitis pigmentosa 18
retinitis pigmentosa 11
retinitis pigmentosa 13
choroidal dystrophy, central areolar 2
fundus albipunctatus
patterned dystrophy of retinal pigment epithelium
retinitis pigmentosa 7
arts syndrome
deafness, x-linked 1
optic atrophy polyneuropathy deafness
phosphoribosylpyrophosphate synthetase superactivity
retrognathia
mental retardation, autosomal recessive 1
combined saposin deficiency
gaucher disease, atypical, due to saposin c deficiency
krabbe disease, atypical, due to saposin a deficiency
metachromatic leukodystrophy due to saposin b deficiency
phosphoserine aminotransferase deficiency
linitis plastica
alzheimer disease, familial, 3, with spastic paraparesis and apraxia
cardiomyopathy, dilated, 1u
alzheimer disease type 4
cardiomyopathy, dilated, 1v
pyogenic arthritis, pyoderma gangrenosum, and acne
holoprosencephaly 7
duodenal diseases
leopard syndrome
macrocephaly autism syndrome
proteus syndrome
vacterl hydrocephaly
diabetes mellitus, permanent neonatal, with cerebellar agenesis
asthma-related traits, susceptibility to, 1
asthma, nasal polyps, and aspirin intolerance
chondrodysplasia, blomstrand type
eiken skeletal dysplasia
failure of tooth eruption, primary
jansen type metaphyseal chondrodysplasia
brachydactyly, type e2
potocki-lupski syndrome
leopard syndrome, 1
metachondromatosis
osteochondroma
choanal atresia and lymphedema
deafness, autosomal recessive 84a
lipodystrophy, congenital generalized, type 4
6-pyruvoyl-tetrahydropterin synthase deficiency
myopathy with lactic acidosis and sideroblastic anemia
poliomyelitis
rosselli-gulienetti syndrome
zlotogora-ogur syndrome
ectodermal dysplasia-syndactyly syndrome 1
cutis laxa, autosomal recessive, type iib
glycogen storage disease type vi
hyperphenylalaninemia, bh4-deficient, c
acrocephalopolysyndactyly type ii
griscelli syndrome type 2
warburg sjo fledelius syndrome
martsolf syndrome
charcot-marie-tooth disease, type 2b
neutrophil immunodeficiency syndrome
nijmegen breakage syndrome-like disorder
breast-ovarian cancer, familial, susceptibility to, 3
fanconi anemia, complementation group o
leopard syndrome, 2
noonan syndrome 5
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity
combined cellular and humoral immune defects with granulomas
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
encephalopathy, acute, infection-induced, susceptibility to, 3
pontocerebellar hypoplasia type 6
capillary malformation-arteriovenous malformation
port-wine stain
microphthalmia, isolated 3
cone-rod dystrophy 11
tarp syndrome
cardiomyopathy, dilated, 1dd
alopecia, neurologic defects, and endocrinopathy syndrome
absent radii and thrombocytopenia
keratomalacia
leber congenital amaurosis 12
leber congenital amaurosis 13
leber congenital amaurosis 3
retinal dystrophies
deafness, autosomal recessive 24
craniosynostosis radial aplasia syndrome
rapadilino syndrome
rothmund-thomson syndrome
spastic paraplegia 31, autosomal dominant
norman roberts lissencephaly syndrome
hyperuricemic nephropathy, familial juvenile, 2
otitis externa
multiple endocrine neoplasia type 2a
multiple endocrine neoplasia type 2b
simpson-golabi-behmel syndrome
congenital disorder of glycosylation, type in
prolonged electroretinal response suppression
rh-null, regulator type
anemia, hemolytic, congenital
night blindness, congenital stationary, autosomal dominant 1
retinitis pigmentosa 4
cone-rod dystrophy 7
macrocephaly, alopecia, cutis laxa, and scoliosis
bothnia retinal dystrophy
newfoundland rod-cone dystrophy
anauxetic dysplasia
cartilage-hair hypoplasia
metaphyseal dysplasia without hypotrichosis
aicardi-goutieres syndrome 4
aicardi-goutieres syndrome 3
prostate cancer, hereditary, 1
leukoencephalopathy, cystic, without megalencephaly
riddle syndrome
meningitis, viral
gaze palsy, familial horizontal, with progressive scoliosis
brachydactyly, type b1
robinow syndrome, autosomal recessive
retinitis pigmentosa 1
retinitis pigmentosa 2
retinitis pigmentosa 9
amaurosis congenita of leber, type 2
cone-rod dystrophy, x-linked, 1
retinitis pigmentosa 3
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness
cone-rod dystrophy 13
joubert syndrome 7
meckel syndrome, type 5
ribose 5-phosphate isomerase deficiency
diamond-blackfan anemia 7
diamond-blackfan anemia 5
diamond-blackfan anemia 6
diamond-blackfan anemia 9
diamond-blackfan anemia 4
anemia, diamond-blackfan, 3
diamond-blackfan anemia 10
coffin-lowry syndrome
diamond-blackfan anemia 8
mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5
retinoschisis
ciliary dyskinesia, primary, 11
ciliary dyskinesia, primary, 12
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
anonychia congenita
platelet disorder, familial, with associated myeloid malignancy
cleidocranial dysplasia
stomatognathic system abnormalities
malignant hyperthermia susceptibility type 1
minicore myopathy with external ophthalmoplegia
myopathy, central core
arrhythmogenic right ventricular dysplasia, familial, 2
spastic ataxia charlevoix-saguenay type
ehlers-danlos syndrome
townes-brocks syndrome
oculootoradial syndrome
tumoral calcinosis, normophosphatemic, familial
aicardi-goutieres syndrome 5
chylomicron retention disease
sarcosinemia
keratosis follicularis spinulosa decalvans, x-linked
cleft palate, isolated, and mental retardation
shwachman syndrome
charcot-marie-tooth disease, type 4b2
lathosterolosis
epilepsy, progressive myoclonic 4, with or without renal failure
generalized epilepsy with febrile seizures plus, type 2
migraine, familial hemiplegic, 3
brugada syndrome 5
epilepsy, benign neonatal, 3
epileptic encephalopathy, early infantile, 11
brugada syndrome 7
hypokalemic periodic paralysis, type 2
paramyotonia congenita of von eulenburg
potassium aggravated myotonia
long qt syndrome 10
cardiomyopathy, dilated, 1e
long qt syndrome 3
long qt syndrome type 3
sick sinus syndrome 1, autosomal recessive
indifference to pain, congenital, autosomal recessive
paroxysmal extreme pain disorder
bronchiectasis with or without elevated sweat chloride 2
bronchiectasis with or without elevated sweat chloride 3
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
leukoencephalopathy with dystonia and motor neuropathy
mitochondrial complex ii deficiency
carney-stratakis syndrome
cowden-like syndrome
carcinoid tumors, intestinal
craniolenticulosutural dysplasia
thyroid hormone metabolism, abnormal
cone-rod dystrophy 10
retinitis pigmentosa 35
rigid spine syndrome
neuritis with brachial predilection
panniculitis, nodular nonsuppurative
corticosteroid-binding globulin deficiency
deafness, autosomal recessive 91
heparin cofactor ii deficiency
plasminogen activator inhibitor-1 deficiency
anti-plasmin deficiency, congenital
complement component 4, partial deficiency of
familial encephalopathy with neuroserpin inclusion bodies
schinzel-giedion syndrome
amyotrophic lateral sclerosis 4, juvenile
spinocerebellar ataxia, autosomal recessive 1
surfactant metabolism dysfunction, pulmonary, 2
limb-girdle muscular dystrophy, type 2d
limb-girdle muscular dystrophy, type 2e
cardiomyopathy, dilated, 1l
limb-girdle muscular dystrophy type 2f
limb-girdle muscular dystrophy, type 2c
cherubism
ter haar syndrome
charcot-marie-tooth disease, type 4c
mononeuropathy of the median nerve, mild
split hand foot deformity 1
holoprosencephaly 3
microphthalmia, isolated, with coloboma 5
single upper central incisor
noonan syndrome-like disorder with loose anagen hair
langer mesomelic dysplasia
leri-weil syndrome
short stature, idiopathic, x-linked
stocco dos santos syndrome
sucrase-isomaltase deficiency, congenital
branchiootic syndrome 3
deafness, autosomal dominant 23
holoprosencephaly 2
branchiootorenal syndrome 2
microphthalmia, isolated, with cataract 2
bile acid malabsorption, primary
buruli ulcer
anemia, hypochromic microcytic, with iron overload
bartter syndrome, antenatal type 1
gitelman syndrome
corpus callosum agenesis neuronopathy
erythrocyte lactate transporter defect
hyperinsulinemic hypoglycemia, familial, 7
cataract, juvenile, with microcornea and glucosuria
allan-herndon-dudley syndrome
deafness, autosomal dominant 25
thiamine responsive megaloblastic anemia syndrome
episodic ataxia, type 6
pleuropneumonia
hypomyelination, global cerebral
adult-onset citrullinemia type 2
neonatal-onset citrullinemia type 2
hhh syndrome
amish lethal microcephaly
carnitine-acylcarnitine translocase deficiency
epileptic encephalopathy, early infantile, 3
mitochondrial phosphate carrier deficiency
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2
achondrogenesis type 1b
atelosteogenesis type 2
diastrophic dysplasia
epiphyseal dysplasia, multiple, 4
pendred syndrome
ichthyosis prematurity syndrome
histiocytosis, sinus
histiocytosis with joint contractures and sensorineural deafness
de vivo disease
glut1 deficiency syndrome 2
arterial tortuosity syndrome
fanconi-bickel syndrome
hypouricemia, renal, 2
spastic paraplegia 42, autosomal dominant
nephrolithiasis/osteoporosis, hypophosphatemic, 1
pulmonary alveolar microlithiasis
testicular microlithiasis
hypophosphatemic rickets with hypercalciuria, hereditary
congenital disorder of glycosylation, type iif
congenital disorder of glycosylation, type 2c
schneckenbecken dysplasia
hyperglycinuria
iminoglycinuria
glycogen storage disease ib
glycogen storage disease ic
spondylocheirodysplasia, ehlers-danlos syndrome-like
hemochromatosis, type 4
oculocutaneous albinism, type iv
folate malabsorption, hereditary
autosomal dominant distal renal tubular acidosis
elliptocytosis, hereditary
renal tubular acidosis, distal, with hemolytic anemia
spherocytosis, type 4
corneal dystrophy and perceptive deafness
corneal dystrophy, fuchs endothelial, 4
corneal endothelial dystrophy type 2
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
brown-vialetto-van laere syndrome
glucose/galactose malabsorption
thyroid dyshormonogenesis 1
body mass index quantitative trait locus 11
hartnup disease
parkinsonism-dystonia, infantile
superior mesenteric artery syndrome
lysinuric protein intolerance
nephrolithiasis/osteoporosis, hypophosphatemic, 2
mental retardation, x-linked, syndromic, christianson type
loeys-dietz syndrome
growth mental deficiency syndrome of myhre
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
nicolaides baraitser syndrome
rhabdoid tumor predisposition syndrome 2
schimke immunoosseous dysplasia
rhabdoid tumor predisposition syndrome 1
cdls, x-linked
spinal muscular atrophies of childhood
spinal muscular atrophy 4
niemann-pick diseases
niemann-pick disease, type a
niemann-pick disease, type b
snyder robinson syndrome
waardenburg syndrome, type 2d
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
parkinson disease 1, autosomal dominant
retinitis pigmentosa 33
long qt syndrome 12
microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism
mental retardation, anterior maxillary protrusion, and strabismus
dermatitis, atopic, 4
microvascular complications of diabetes, susceptibility to, 6
noonan syndrome 4
sclerosteosis
peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
waardenburg syndrome, type 4c
yemenite deaf-blind hypopigmentation syndrome
hypotrichosis-lymphedema-telangiectasia syndrome
microphthalmia, syndromic 3
mental retardation, x-linked, with panhypopituitarism
panhypopituitarism x-linked
campomelic dysplasia
hepatic venoocclusive disease with immunodeficiency
spastic paraplegia 4, autosomal dominant
spastic paraplegia 11, autosomal recessive
spastic paraplegia 20, autosomal recessive
mast syndrome
spastic paraplegia 7, autosomal recessive
tropical calcific pancreatitis
netherton syndrome
diarrhea 3, secretory sodium, congenital
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
legius syndrome
elliptocytosis 2
pyropoikilocytosis, hereditary
spherocytosis, type 3
epileptic encephalopathy, early infantile, 5
neuropathy, hereditary sensory and autonomic, type ia
neuropathy, hereditary sensory and autonomic, type ic
pseudovaginal perineoscrotal hypospadias
congenital disorder of glycosylation, type iq
perisylvian syndrome
rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked
46,xx gonadal dysgenesis, complete, sry-positive
46,xy sex reversal 1
ichthyosis with hypotrichosis, autosomal recessive
amish infantile epilepsy syndrome
hyper-ige recurrent infection syndrome, autosomal dominant
growth hormone insensitivity with immunodeficiency
microcephaly 7, primary, autosomal recessive
immune dysfunction with t-cell inactivation due to calcium entry defect 2
microphthalmia, syndromic 9
polyhydramnios, megalencephaly, and symptomatic epilepsy
deafness, autosomal recessive 16
hemophagocytic lymphohistiocytosis, familial, 4
epileptic encephalopathy, early infantile, 4
mitochondrial dna depletion syndrome 2 (myopathic type)
mitochondrial dna depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)
mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
multiple sulfatase deficiency disease
orofacial cleft 10
diabetes mellitus, insulin-dependent, 5
sulfite oxidase deficiency
spermatogenic failure 4
epilepsy, x-linked, with variable learning disabilities and behavior disorders
spinocerebellar ataxia, autosomal recessive 8
mental retardation, autosomal dominant 5
mental retardation, x-linked 96
corneal dystrophy, gelatinous drop-like
dystonia 3, torsion, x-linked
diabetes mellitus, insulin-dependent, 21
transaldolase deficiency
myeloproliferative syndrome, transient
bare lymphocyte syndrome, type i
amyotrophic lateral sclerosis 10
thiourea tasting
barth syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
kenny caffey syndrome
kenny-caffey syndrome, type 1
spinocerebellar ataxia 17
cousin syndrome
pelviscapular dysplasia
atrial septal defect 4
cleft palate x-linked
ulnar-mammary syndrome
ischiopatellar dysplasia
holt-oram syndrome
ghosal hematodiaphyseal dysplasia
cardiomyopathy, dilated, 1n
muscular dystrophy, limb-girdle, type 2g
transcobalamin ii deficiency
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
sveinsson chorioretinal atrophy
deafness, autosomal dominant 12
deafness, autosomal recessive 21
venous malformations, multiple cutaneous and mucosal
dyskeratosis congenita, autosomal dominant
congenital atransferrinemia
char syndrome
hemochromatosis, type 3
arenaviridae infections
thyroid dyshormonogenesis 3
camurati-engelmann syndrome
arrhythmogenic right ventricular dysplasia, familial, 1
corneal dystrophy, epithelial basement membrane
corneal dystrophy, lattice type iiia
corneal dystrophy of bowman layer, type 1
groenouw type i corneal dystrophy
lattice corneal dystrophy type 1
loeys-dietz syndrome, type 1a
loeys-dietz syndrome, type 2a
aortic aneurysm, familial thoracic 3
hernia, inguinal
loeys-dietz syndrome, type 1b
holoprosencephaly 4
lamellar ichthyosis, type 1
peeling skin syndrome
peeling skin syndrome, acral type
dystonia 6, torsion
thyroid hormone resistance, generalized, autosomal dominant
thyroid hormone resistance, generalized, autosomal recessive
thyroid hormone resistance, selective pituitary
jensen syndrome
mohr-tranebjaerg syndrome
fundus dystrophy, pseudoinflammatory, of sorsby
revesz debuse syndrome
korsakoff syndrome
atrial septal defect 6
macular degeneration, age-related, 10
deafness, autosomal dominant 36
deafness, autosomal recessive 7
epidermodysplasia verruciformis
optic atrophy 7
joubert syndrome 2
meckel syndrome type 2
arrhythmogenic right ventricular dysplasia, familial, 5
joubert syndrome 6
meckel syndrome type 3
nephronophthisis 11
deafness, autosomal recessive 6
cardiomyopathy, dilated, 1t
enterokinase deficiency
deafness, autosomal recessive 8
iron-refractory iron deficiency anemia
osteopetrosis, autosomal recessive 7
polyostotic osteolytic dysplasia, hereditary expansile
paget disease, juvenile
immunoglobulin a deficiency 2
periodic fever, familial, autosomal dominant
osteopetrosis, autosomal recessive 2
cardiomyopathy, dilated, 1z
cardiomyopathy, familial hypertrophic, 13
cardiomyopathy, dilated, 1ff
cardiomyopathy, dilated, 2a
cardiomyopathy, familial hypertrophic, 7
cardiomyopathy, familial restrictive, 1
nemaline myopathy 5
cardiomyopathy, dilated, 1d
cardiomyopathy, familial hypertrophic, 2
cardiomyopathy, familial restrictive, 3
ehlers-danlos syndrome caused by tenascin-x deficiency
keratosis palmoplantaris with esophageal cancer
retinitis pigmentosa 31
dystonia musculorum deformans type 1
adrenocortical carcinoma, hereditary
papilloma, choroid plexus
ectrodactyly-cleft lip/palate syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
hay-wells syndrome
limb-mammary syndrome
propping zerres syndrome
rapp-hodgkin syndrome
split-hand/foot malformation 4
cardiomyopathy, dilated, 1y
cardiomyopathy, familial hypertrophic, 3
arthrogryposis, distal, type 1a
nemaline myopathy 4
nemaline myopathy 1
thiopurine s-methyltransferase deficiency
thyroid dyshormonogenesis 2a
ceroid lipofuscinosis, neuronal, 2
deafness, autosomal recessive 79
spondyloepiphyseal dysplasia tarda, x-linked
mental retardation, autosomal recessive 13
trehalase deficiency
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
chilblain lupus
vasculopathy, retinal, with cerebral leukodystrophy
coma, post-head injury
thyrotropin-releasing hormone deficiency
limb-girdle muscular dystrophy type 2h
mulibrey nanism
deafness, autosomal recessive 28
achondrogenesis type 1a
deafness, aminoglycoside-induced
liver failure, infantile, transient
night blindness, congenital stationary, type 1c
hypomagnesemia 1, intestinal
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
langer-giedion syndrome
trichorhinophalangeal syndrome type 2
trichorhinophalangeal syndrome, type i
trichorhinophalangeal syndrome, type iii
brachyolmia type 3
hereditary motor and sensory neuropathy, type iic
metatropic dwarfism
parastremmatic dwarfism
scapuloperoneal spinal muscular atrophy
sodium serum level quantitative trait locus 1
spondyloepiphyseal dysplasia, maroteaux type
focal cortical dysplasia of taylor
pontocerebellar hypoplasia, type 2b
pontocerebellar hypoplasia, type 2c
pontocerebellar hypoplasia, type 2a
pontocerebellar hypoplasia, type 4
combined oxidative phosphorylation deficiency 3
hypothyroidism, congenital, nongoitrous, 4
hyperthyroidism, familial gestational
hyperthyroidism, nonautoimmune
exudative vitreoretinopathy 5
mental retardation, x-linked 58
sudden infant death with dysgenesis of the testes syndrome
spinocerebellar ataxia 11
retinitis pigmentosa 51
cardiomyopathy, dilated, 1g
cardiomyopathy, familial hypertrophic, 9
distal myopathy markesbery-griggs type
hereditary myopathy with early respiratory failure
muscular dystrophy, limb-girdle, type 2j
myopathy, early-onset, with fatal cardiomyopathy
amyloidosis, hereditary, transthyretin-related
dystransthyretinemic euthyroidal hyperthyroxinemia
polymicrogyria with optic nerve hypoplasia
macrothrombocytopenia, autosomal dominant, tubb1-related
polymicrogyria, symmetric or asymmetric
combined oxidative phosphorylation deficiency 4
leber congenital amaurosis 15
retinitis pigmentosa 14
mental retardation, autosomal recessive 7
saethre-chotzen syndrome with eyelid anomalies
tyrosine kinase 2 deficiency
mitochondrial neurogastrointestinal encephalopathy syndrome
oculocutaneous albinism type 1
oculocutaneous albinism type 1b
oculocutaneous albinism type 3
arthrogryposis multiplex congenita, distal, x-linked
corneal dystrophy, crystalline, of schnyder
johanson blizzard syndrome
parkinson disease 5, autosomal dominant
gilbert disease
crigler najjar syndrome, type 1
crigler najjar syndrome, type 2
hyperbilirubinemia, transient familial neonatal
glomerulocystic kidney disease with hyperuricemia and isosthenuria
hyperuricemic nephropathy, familial juvenile, 1
medullary cystic kidney disease 2
oroticaciduria 1
hemophagocytic lymphohistiocytosis, familial, 3
immunodeficiency with hyper-igm, type 5
beta-ureidopropionase deficiency
mental retardation, x-linked, syndromic 14
urocanase deficiency
porphyria, erythropoietic
poikiloderma with neutropenia
deafness, autosomal recessive 18a
usher syndrome, type 1c
usher syndrome, type ig
usher syndrome, type 2a
sertoli cell-only syndrome
cystocele
sacral defect and anterior sacral meningocele
amyotrophic lateral sclerosis 8
spinal muscular atrophy, proximal, adult, autosomal dominant
cardiomyopathy, dilated, 1w
cardiomyopathy, familial hypertrophic, 15
inclusion body myopathy with early-onset paget disease and frontotemporal dementia
vitamin d-dependent rickets, type 2a
arthrogryposis renal dysfunction cholestasis syndrome
vitamin k-dependent clotting factors, combined deficiency of, 2
dysequilibrium syndrome
myopathy, x-linked, with excessive autophagy
neuroacanthocytosis
cohen syndrome
corneal dystrophies, hereditary
keratoconus 1
microphthalmia, isolated 2
microphthalmia, isolated, with coloboma 3
von willebrand disease, type 1
von willebrand disease, type 2
von willebrand disease, type 3
neutropenia, severe congenital, x-linked
wiskott-aldrich syndrome
cranioectodermal dysplasia 2
glaucoma 1, open angle, g
pachygyria with mental retardation, seizures, and arachnoid cysts
amelogenesis imperfecta, hypomaturation type, iia3
deafness, autosomal dominant 6
arthropathy, progressive pseudorheumatoid, of childhood
neuropathy, hereditary sensory and autonomic, type iia
odontoonychodermal dysplasia
schopf-schulz-passarge syndrome
split-hand/foot malformation 6
tetra-amelia autosomal recessive
46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs
mullerian aplasia and hyperandrogenism
rokitansky kuster hauser syndrome
al awadi syndrome
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
denys-drash syndrome
frasier syndrome
meacham winn culler syndrome
nephrotic syndrome, type 4
wilson-turner x-linked mental retardation syndrome
major affective disorder 7
xanthinuria, type i
xeroderma pigmentosum, complementation group c
nephronophthisis-like nephropathy 1
charcot-marie-tooth disease, dominant intermediate c
t cell immunodeficiency primary
skeletal defects, genital hypoplasia, and mental retardation
mental retardation, x-linked 91
mental retardation, x-linked, syndromic, raymond type
corneal dystrophy, fuchs endothelial, 6
corneal dystrophy, posterior polymorphous, 3
mowat-wilson syndrome
diaphragmatic hernia 3
spastic paraplegia 15, autosomal recessive
spastic paraplegia 33, autosomal dominant
holoprosencephaly 5
heterotaxy, visceral, x-linked
acro-osteolysis
mandibuloacral dysplasia with type b lipodystrophy
nephrolithiasis, uric acid, susceptibility to
ehlers-danlos syndrome 6b
retinitis pigmentosa 58
spinocerebellar ataxia, autosomal recessive 5
seborrhea-like dermatitis with psoriasiform elements
mental retardation, x-linked 45
