ORPHANET DATABASE |
A
aa,
aae,
aagenaes,
aarskog,
aarskog-ose-pande,
aarskog-scott,
aase-smith,
ab,
abcb4,
abcd,
abdominal,
abductor,
aberrant,
abetalipoproteinemia,
abidi,
ablepharon,
abnormal,
abnormalities,
abnormality,
abruzzo-erickson,
abscesses,
absd,
absence,
absences,
absent,
acalvaria,
acanthamoeba,
acanthosis,
acatalasemia,
accelerated,
accessory,
accident,
aceruloplasminemia,
acetoacetyl-coa,
acetyl,
acetyl-alpha,
acetyl-coa,
acetylglutamate,
achalasia,
achalasia-addisonianism-alacrima,
acheiropodia,
achondrogenesis,
achondroplasia,
achromatopsia,
acid,
acid-responsive,
acide,
acidemia,
acidosis,
acidosis-anaemia,
aciduria,
acilia,
acitretin,
ackee,
ackerman,
aconitase,
acoustic,
acps,
acquired,
acral,
acro,
acro-dento-osteo-dysplasia,
acro-dermato-ungual-lacrimal-tooth,
acro-fronto-facio-nasal,
acro-pectoral,
acro-pectoro-renal,
acro-renal-mandibular,
acro-renal-ocular,
acrocallosal,
acrocapitofemoral,
acrocardiofacial,
acrocraniofacial,
acrocyanosis,
acrodermatitis,
acrodysostosis,
acrodysplasia,
acrodystrophy,
acrofacial,
acrokeratoelastoidosis,
acrokeratosis,
acromegaloid,
acromegaly,
acromelanosis,
acromelic,
acromesomelic,
acromicria,
acromicric,
acroosteolysis,
acropectorovertebral,
acropigmentation,
acrorenal,
acth,
actinic,
activitor,
activity,
acute,
acyl,
acyl-coa,
ad,
adactylia,
adamantinoma,
adamopoulos,
adams,
adams-oliver,
adane,
adca,
adcme,
adducted,
adem,
adenine,
adenoma,
adenomatoid,
adenomatous,
adenopathy,
adenosine,
adenosylcobalamin,
adenosylhomocysteine,
adenovirus,
adenylate,
adenylosuccinase,
adenylyl,
adiposis,
adn,
adnatum,
adolescent,
adp,
adrenal,
adrenocortical,
adrenoleukodystrophy,
adrenomyodystrophy,
adult,
advanced,
adynamy,
adysplasia,
aec,
aerata,
aeruginosa,
affecting,
african,
after,
agammaglobulinemia,
age-related,
agenesia,
agenesis,
agent,
agglutinin,
aggravated,
aggregates,
aggressive,
aglossia,
agm2,
agnathia,
agnogenic,
agonadism,
ahds,
ahmad,
ahn-lerman-sagie,
aicardi,
aicardi-goutieres,
aids,
aird,
aires,
airway,
akaba,
akinesia,
akt2,
al,
alacrima,
alagille,
alar,
albers-schonberg,
albinism,
albinism-deafness,
albipunctatus,
albright,
alcohol,
aldolase,
aldosterone,
aldred,
aleukocytosis,
alexander,
alkaptonuria,
alkylating,
allergic,
alloimmune,
alloimmunisation,
almeida,
alopecia,
alpers-huttenlocher,
alpha,
alpha-1,
alpha-galactosidase,
alpha-glucosaminide,
alpha-ketoglutarate,
alpha-mannosidosis,
alpha-methyl-acyl-coa,
alpha-sarcoglycanopathy,
alpha-thalassemia,
alport,
als,
alsg,
alternating,
alveolar,
alveolitis,
alves,
alymphocytotic,
alzheimer,
amaurosis,
ambiguous,
ambras,
ambrosi,
amegacaryocytosis,
amegakaryocytic,
amelia,
amelo-cerebro-hypohidrotic,
amelo-onycho-hypohidrotic,
amelogenesis,
american,
aminoacid,
aminoaciduria,
aminopterin,
amish,
amniotic,
amoebae,
amoebiasis,
amorphus,
ampola,
amylo-16-glucosidase,
amyloid,
amyloidosis,
amylopectinosis,
amyoplasia,
amyotrophic,
amyotrophy,
anaemia,
anal,
analbuminemia,
analgesia,
anaplastic,
ancylostomiasis,
andermann,
andersen,
anderson,
androgen,
androgen-induced,
anemia,
anencephaly,
anesthesia,
anetodermia,
aneuploidy,
aneurysm,
aneurysmal,
aneurysms,
angel-shaped,
angelman,
angio-osteohypertrophic,
angio-osteohypotrophic,
angiodysgenetic,
angioedema,
angiofollicular,
angioimmunoblastic,
angiokeratoma,
angioma,
angiomatosis,
angiostrongyliasis,
anguillulosis,
anhalt,
anhidrotic,
anhydrase,
aniridia,
aniridia-mental,
anisakiasis,
ankyloblepharon,
ankylosing,
ankylosis,
annular,
annulati,
annuloaortic,
ano,
anogenital,
anomalies,
anomalies,
anomaly,
anonychia,
anophthalmia,
anophthalmos,
anorectal,
anorexia,
anosmia,
another,
antagonists,
antecubital,
antenatal,
anterior,
anthracycline,
anti-factor,
anti-glomerular,
anti-hla,
anti-maternal,
anti-polysaccharide,
anti-vitamin,
antibodies,
antibody,
antibody-mediated,
antidepressant,
antidiuretic,
antigen-peptide-transporter,
antinolo,
antinuclear,
antiphospholipid,
antiplasmin,
antisynthetase,
antithrombin,
antitrypsin,
antley-bixler,
antley-bixler-like,
antrum,
anus,
anyane-yeboa,
aoa1,
aorta,
aorta-pulmonary,
aortic,
aortico-pulmonary,
aorto-ventricular,
apert,
aphakia,
aphalangia,
aphalangy,
aphasia,
aphtous,
apical,
aplasia,
aplasia-hypoplasia,
aplastic,
apnea,
apnoea,
apo,
apolipoprotein,
apolipoproteine,
aponeuroses,
apparatus,
apparent,
appearance,
appendage,
apple,
apraxia,
apudoma,
ar-cmt,
ar-cmt1,
arachnodactyly,
arachnoid,
arbovirosis,
arc,
arca,
arca1,
arch,
areflexic,
arena,
areolar,
argininemia,
argininosuccinase,
argininosuccinate,
argyria,
argyrophilic,
arhinia,
ari,
armfield,
arndt-gottron,
arnold-chiari,
aromatase,
aromatic,
arrhinia,
arrhythmia,
arrhythmogenic,
arrythmogenic,
arterial,
arteries,
arterio-veinous,
arteriolar,
arteriosus,
arterioveinous,
arteriovenous,
arteritis,
artery,
arthritis,
arthritis-related,
arthrogryposis,
arthroophtalmopathy,
arthropathy,
arthropathy-brachydactyly,
articular,
arts,
arylsulfatase,
asbestos,
ascending,
ascher,
ascites,
aseptic,
aspartoacylase,
aspartylglucosaminidase,
asperger,
aspergillosis,
asphyxiating,
aspiration,
aspwscr,
associated,
association,
asternia,
astley-kendall,
astrocytoma,
asymetry,
asymmetric,
asymmetry,
atactica,
ataxia,
ataxia-deafness,
ataxia-deafness-retardation,
ataxia-dementia,
ataxo-opso-myoclonus,
atelencephaly,
atelosteogenesis,
atherosclerosis,
atkin-flaitz,
atp,
atransferrinemia,
atresia,
atrial,
atrichia,
atriodigital,
atrioventricular,
atrium,
atrophia,
atrophicans,
atrophoderma,
atrophy,
atrus,
attacks,
atypical,
aughton,
aur,
aural,
auralcephalosyndactyly,
auricle,
auricular,
auriculo,
auriculoocular,
auriculoosteodysplasia,
ausems,
autism,
autoimmune,
autoimmunization,
autoinflammatory,
autonomic,
autophagy,
autosomal,
avascular,
awadi,
awadi-raas-rothschild,
axenfeld-rieger,
axial,
axonal,
ayazi,
ayber,
azoospermia,
azouz,
B
b1,
b12,
babesiosis,
bacha,
bacilliformis,
back,
bacterial,
bahemuka,
baird,
balantidiasis,
balding,
baldini,
baller-gerold,
ballooning,
bamboo,
bamforth,
bands,
banki,
bannayan-riley-ruvalcaba,
baraitser,
baraitser-brett-piesowicz,
baraitser-winter,
barakat,
barber-say,
bardet-biedl,
bare,
barnicoat,
barraquer-simons,
barratt,
barrett,
bartonella,
bartonellosis,
bartsocas-papas,
bartter,
basal,
basan,
basaran,
basel-vanagaite-sirota,
basement,
basilar,
basophilic,
bass,
bassoe,
battaglia,
baughman,
bavinck,
bayer,
bazex-dupre-christol,
bazopoulou,
bbb,
bcd,
bcg,
bd,
bean,
beare,
becker,
beckwith-wiedemann,
beec,
beemer-ertbruggen,
beetz,
behavior,
behcet,
behr,
behrens-baumann-vogel,
bellini-chiumello-rimoldi,
ben,
bencze,
benign,
bennion-patterson,
beradinelli-seip,
berdon,
berger,
berk,
berlin,
bernard-soulier,
bernardi,
bertini,
berylliosis,
besnier-boeck-schaumann,
bessel-hagen,
best,
beta,
beta-alanine,
beta-galactosidase,
beta-glucosidase,
beta-glucuronidase,
beta-hydroxylase,
beta-mannosidase,
beta-sarcoglycanopathy,
beta-thalassemia,
beta2-microglobulinic,
bickel-fanconi,
bickers-adams,
bicuspid,
biemond,
biermer,
bifid,
bifida,
bifocal,
bifunctional,
bifurcati,
bigio,
bilateral,
bile,
biliary,
bilirubin,
billard-toutain-maheut,
binder,
bindewald-ulmer-muller,
binswanger,
biotin-responsive,
bipolar,
bird,
birdshot,
birt-hogg-dube,
bitemporal,
bixler,
bjornstad,
blaichman,
blastic,
blastoma,
blasts,
blepharo,
blepharo-cheilo-dontic,
blepharo-facio-skeletal,
blepharonasofacial,
blepharophimosis,
blepharoptosis,
blethen,
blind,
blindness,
bloch-sulzberger,
block,
blomstrand,
bloom,
blount,
blue,
bocker,
bod,
boder,
bodies,
body,
body-like,
bofs,
bohl,
bohring-opitz,
boichis,
bone,
bones,
bonneau-beaumont,
bonnemann,
bonnemann-meinecke-reich,
bonnet-dechaume-blanc,
book,
boomerang,
booth,
bor,
borderline,
borer,
borjeson-forssman-lehmann,
bork,
bornholm,
borrego,
borreliosis,
borrmann,
borrone,
bosch,
bosley-salih-alorainy,
bosma,
boston,
bothnia,
bothnian,
bothriocephalosis,
bothrops,
botulism,
bourneville,
boutonneuse,
bouwes,
bowel,
bowen,
bowen-conradi,
bowing,
boyadjiev-jabs,
boylan,
bpd,
brachman,
brachycephalofrontonasal,
brachycephaly,
brachydacty,
brachydactylous,
brachydactyly,
brachyolmia,
brachysyndactyly,
brachytelephalangy,
bracq,
braddock,
bradyopsia,
brahimi,
brain,
branch,
branched,
branchial,
branchio-otic,
branchio-skeleto-genital,
branchiogenic,
braun,
braun-tinschert,
breast,
bresek,
bresnick,
brewer,
british,
brittle,
broad,
broad-betalipoproteinemia,
brocq,
brody,
bronchial,
bronchiectasis,
bronchiolitis,
bronchobiliary,
bronchogenic,
bronchopulmonary,
brooks,
brooser,
brown,
brown-vialetto-van,
bruce,
brucellosis,
bruck,
brugada,
brune,
brunner-winter,
bruyn,
buckley,
budd-chiari,
buebel,
buenos,
bulbospinal,
bullae,
bullosa,
bullous,
bundle,
buntinx,
burkitt,
burn,
burn-mckeown,
burns,
buschke-ollendorff,
buttiens-fryns,
butyrylcholinesterase,
buyse,
C
c2,
cabezas,
cacchi-ricci,
cach,
cadasil,
cafe,
caffey,
cahmr,
calcificans,
calcification,
calcifications,
calcified,
calcinosis,
calderon,
caliceal,
california,
callosities,
callosum,
calpainopathy,
calsequestrin,
calvarial,
camera,
camfak,
camos,
campomelia,
campomelic,
camptobrachydactyly,
camptocormia,
camptodactyly,
camurati,
canada,
canal,
canaliculi,
cancer,
cancer-associated,
cancrum,
candidiasis,
candidosis,
canomad,
cantagrel,
cantalamessa,
cantrell,
cantu,
canulati,
canun,
cap,
capillary,
capital,
capos,
caratolo,
carbamoylphosphate,
carbamoyltransferase,
carbohydrate,
carbonic,
carboxylase,
carcinoid,
carcinoma,
cardiac,
cardioencephalomyopathy,
cardiofaciocutaneous,
cardiogenic,
cardiogenital,
cardiomyopathic,
cardiomyopathy,
cardiopathy,
cardiovascular,
carey,
carinatum,
carnevale,
carnevale-hernandez-del,
carnevale-krajewska-fischetto,
carney,
carnitine,
carnitine-acylcarnitine,
carnosinase,
carotid,
carpal,
carpenter,
carpo,
carr,
cartilage,
cartilages,
carvajal,
casamassima-morton-nance,
castello,
castillo,
castro,
cat-eye,
catania,
cataplexy,
cataract,
cataract-glaucoma,
cataract-microcornea,
cataracts,
catarrh,
catch,
catecholergic,
catel-manzke,
caudal,
caused,
cavernous,
cavity-based,
cavus,
cayman,
cbl,
ccfdn,
cd,
cd19,
cd30-positive,
cda,
cdg,
cecato,
cednik,
celiac,
cell,
cells,
cellulitis,
celsi,
cemento-osseous,
cenani,
central,
centronuclear,
centrotemporal,
cephalo,
cephalopolysyndactyly,
ceramidase,
cerebellar,
cerebelloparenchymal,
cerebellotrigeminal,
cerebellum,
cerebral,
cerebro,
cerebro-costo-mandibular,
cerebro-oculo-genital,
cerebro-oculo-nasal,
cerebrohepatorenal,
cerebrooculofacioskeletal,
cerebroretinal,
ceroid,
cervical,
cervicooculoacoustic,
cfc,
chahine,
chain,
chang-davidson-carlson,
changes,
channel,
channelopathy-associated,
chaotic,
chapelle,
char,
characteristic,
charcot-marie-tooth,
charge,
charlevoix-saguenay,
charlie,
chat,
chavany,
chediak-higashi,
cheilitis,
chemke,
cherry-red-spot,
cherubism,
chhs,
child,
childhood,
children,
chime,
chitayat,
chitayat-meunier-hodgkinson,
chitty,
chloride,
chloroma,
choanal,
chochillon,
cholangitis,
choledochal,
cholelithiasis,
cholemia,
cholera,
cholestasis,
cholestatic,
cholesterol,
chondrocalcinosis,
chondrodysplasia,
chondrodystrophy,
chondroectodermal,
chondromalacia,
chondrosarcoma,
chordoma,
chorea,
choreoacanthocytosis,
choreoathesis,
choreoathetosis-spasticity,
chorioretinal,
chorioretinopathy,
choristoma,
choroid,
choroidal,
choroideremia,
choroido,
choroidopathy,
chp,
christ-siemens-touraine,
christian,
christian-rosenberg,
christiansen,
christianson,
christianson-fourie,
chromomycosis,
chromosomal,
chromosome,
chromosome,
chronic,
chudley,
churg-strauss,
chylous,
cicatricial,
cid,
ciliary,
cilio,
cilliers-beighton,
circumscribed,
cirrhosis,
cirrhotic,
class,
classic,
classical,
claude-bernard-horner,
clavicle,
claytonsmith-donnai,
clear,
cleft,
clefting,
cleido,
cleidocranial,
clinodactyly,
cloacal,
closed,
closure,
clouding,
clouston,
cloverleaf,
clped1,
cluster,
cmd,
cmv,
cns,
coa,
coagulation,
coalition,
coarctation,
coarse,
coats,
cobalamin,
cobb,
cobblestone,
cocaine,
cochleosaccular,
cockayne,
coenzyme,
coffin-lowry,
coffin-siris,
cogan,
cognitive,
cohen,
coif,
colchicine,
cold,
coldwell,
colitis,
collagen,
collagenoma,
collagenosis,
collagenous,
collapse,
collins,
coloboma,
colobomatous,
colon,
colonic,
colorado,
colorectal,
colourblindness,
colver,
combined,
comedonicus,
common,
communication,
complement,
complete,
complex,
condensation,
condensing,
conduction,
conductive,
cone,
cone-rod,
congenita,
congenital,
congenitally,
conjonctivitis,
conjunctiva,
conjunctival,
conjunctivitis,
conn,
connection,
connective,
conodysplasia,
conotruncal,
constipation,
context,
continuous,
contracture,
contractures,
convertase,
convulsions,
copper,
cord,
cord-stromal,
core,
corectopia,
cormier,
cornea,
corneal,
corneal-cerebellar,
corneodermatoosseous,
corona,
coronal,
coronaro-cardiac,
coronary,
corpus,
cortada,
cortical,
corticalis,
corticobasal,
costa,
costeff,
costello,
costo,
costocoracoid,
cote,
coupling,
course,
cowchock-wapner-kurtz,
cowden,
cox,
coxa,
coxo-podo-patellar,
coxoauricular,
crandall,
crane,
cranial,
cranio,
cranio-facio-digito-genital,
cranioacrofacial,
craniocerebellocardiac,
craniodiaphyseal,
craniodigital,
cranioectodermal,
craniofacial,
craniofacial-deafness-hand,
craniofrontonasal,
craniometadiaphyseal,
craniomicromelic,
craniopharyngioma,
craniorachischisis,
craniostenosis,
craniosynostosis,
craniotelencephalic,
craniotubular,
creases,
creatine,
creeping,
crest,
creutzfeldt-jakob,
cri,
crisis,
crisponi,
criss-cross,
criswick-schepens,
crohn,
cronkhite,
cross,
crossed,
crossen,
crouzon,
crow-fukase,
crying,
cryoglobulinaemia,
cryptococcosis,
cryptomicrotia,
cryptophthalmia,
cryptophthalmos-syndactyly,
cryptorchidism,
cryptosporidiosis,
csid,
cubitus,
culler,
culler-jones,
cumming,
currarino,
cushing,
cutaneous,
cutis,
cutler,
cvid,
cyclase,
cyclic,
cyclosporosis,
cylindromatosis,
cyprus,
cyst,
cystathioninuria,
cystic,
cysticercosis,
cystinosis,
cystinuria,
cystitis,
cystoid,
cysts,
cytochrome,
cytomegalovirus,
cytopathies,
cytopenia,
czeizel,
D
da,
dacryocystitis,
daentl-townsend-siegel,
dahlberg,
daish,
daly,
dandy,
dandy-walker,
daneman,
danish,
danon,
darier,
darier-gottron,
davenport,
david,
davies,
davis,
davison,
davy,
dcma,
deaf,
deafness,
deafness,
deafness-dystonia-optic,
deafness-infertility,
deafness-mental,
deafness-nephropathy,
deafness-tubular,
deal,
deaminase,
death,
decalvans,
decarboxylase,
deciduous,
deep,
defect,
defective,
defects,
deferens,
deficiencies,
deficiency,
deficiency,
deficiency,
deficiency,
deficiency,
deficient,
deficit,
deformans,
deformity,
degeneration,
degenerescence,
degos,
dehydratase,
dehydrated,
dehydrogenase,
dejerine-sottas,
dekaban,
del,
delay,
delayed,
deletion,
deletion,
deletions,
delleman-oorthuys,
delta-1-pyrroline,
delta-sarcoglycanopathy,
delta1-pyrroline-5-carboxylate,
dementia,
demodicidosis,
demyelinating,
demyer,
den,
dend,
dendritic,
dennis,
dent,
dental,
dentatorubral,
dentin,
dentinogenesis,
dento,
dentoleukoencephalopathy,
denys-drash,
dependent,
depigmentation,
depletion,
depositions,
der,
derivatives,
derived,
dermal,
dermatitis,
dermato-cardio-skeletal,
dermatofibrosarcoma,
dermatoleukodystrophy,
dermatomyositis,
dermatoosteolysis,
dermatopathia,
dermatosis,
dermo-odonto,
dermochondrocorneal,
dermoid,
dermoids,
dermopathy,
dermot,
desbuquois,
deshydrogenase,
desmin-related,
desmoplastic,
desmosterolosis,
desquamativa,
deterioration,
developement,
development,
developmental,
deviation,
devriendt,
dew,
dexamethasone,
dextrocardia,
diabetes,
diabetic,
diaper,
diaphanospondylodysostosis,
diaphragmatic,
diaphysaire,
diaphyseal,
diarrhea,
diarrhoea,
diastema,
diastematomyelia,
diastrophic,
dicarboxylicaminoaciduria,
diego,
diencephalic,
diffuse,
digestive,
digital,
digitalis,
digito,
digitorenocerebral,
dihtdropyrimidinase,
dihydantoin,
dihydrolipoamide,
dihydropteridine,
dihydropyrimidine,
dilatation,
dilated,
dilation,
dilling,
dillon,
dimelia,
dincsoy-salih-patel,
dinno,
diomedi,
diphallia,
diphallus,
diphosphoglycerate,
diphtheria,
diplegia,
diplopodia,
diprosopia,
disabilities,
disabling,
discordance,
disease,
disease,
diseases,
disomy,
disorder,
disordered,
disorders,
disorganization,
disproportion,
disruption,
dissecting,
dissection,
disseminata,
disseminated,
distal,
distal,
distal,
distal,
distichiasis,
distilbene,
distomatosis,
distress,
diutinum,
diverticula,
diverticuli,
diverticulum,
dk,
dkc,
dna,
dobrow,
dohi,
dolichocephaly,
dolicospondylic,
dolorosa,
dominant,
dominant-intermediate,
donald,
donath-landsteiner,
donlan,
donnai,
donohue,
doose,
dopa-responsive,
dopamine,
dos,
dott,
double,
doughnut,
douglas,
dowling-degos,
down,
dracunculiasis,
dravet,
dreyer,
drug-induced,
drugs,
drusen,
duane,
duane-radial,
dubin-johnson,
dubowitz,
duct,
ducts,
ductus,
due,
dumoulin,
dundar,
dungan,
dunnigan,
duodenal,
duplication,
duplication,
duplication,
duplications,
dupont,
dupuytren,
dural,
during,
dwarfism,
dyad,
dyggve-melchior-clausen,
dykes-markes-harper,
dysarthria,
dysautonomia,
dyscephalic,
dyschondrosteosis,
dyschromatosis,
dysequilibrium,
dyserythropoietic,
dysferlinopathy,
dysfunction,
dysgenesis,
dysgerminoma,
dysharmonic,
dyskeratoma,
dyskinesia,
dysmorphic,
dysmorphism,
dysosteosclerosis,
dysostosis,
dysphasic,
dysplasia,
dysplasia,
dysplasic,
dysplastic,
dysprothrombinemia,
dysraphism,
dysregulation,
dyssegmental,
dysspondyloenchondromatosis,
dyssynostosis,
dystasia,
dystonia,
dystonia-parkinsonism,
dystonias,
dystrophies,
dystrophinopathy,
dystrophy,
E
eagle-barret,
eales,
ear,
ear-patella-short,
earlobes,
early,
early-onset,
ears,
eastern,
ebd,
ebj,
ebola,
ebs,
ebs-md,
ebstein,
ecchondromata,
echinococcosis,
eclabion,
ecp,
ectasia,
ectasic,
ectodermal,
ectodermic,
ectopia,
ectopic,
ectrodactyly,
ectromelia,
ectropion,
eczema-thrombocytopenia-immunodeficiency,
edema,
edinburgh,
edmd,
eds,
edwards-patton-dilly,
effect,
ege,
ehlers-danlos,
ehrlichiosis,
eiken,
eisenmenger,
elastosis,
elbow,
elbows,
electron,
elejalde,
elevatum,
elliott,
elliptocytosis,
ellis,
emanuel,
embryofetopathy,
embryofoetopathy,
embryonal,
embryonary,
embryopathy,
emery-nelson,
emphysema,
empty,
enamel,
encephalitis,
encephalo,
encephalocele,
encephalomyelitis,
encephalopathies,
encephalopathy,
encephalophathy,
enchondromata,
enchondromatosis,
endocarditis,
endocrine,
endodermal,
endomyocardial,
endopeptidase,
endosteal,
endotheliopathy,
eng,
engelhard,
engelmann,
enolase,
entamoeba,
enteric,
enteroendocrine,
enteropathica,
enteropathy,
enteropathy-type,
enterovirus,
enthesitis,
entrapment,
envenomization,
enzyme,
eosinophilia,
eosinophilic,
ependymoma,
epibulbar,
epicanthus,
epidemic,
epidermal,
epidermodysplasia,
epidermoid,
epidermolysis,
epidermolytic,
epilepsy,
epileptic,
epimetaphyseal,
epiphyseal,
epiphysealis,
epiphyses,
epiphysis,
episodic,
epithelial,
epithelioma,
epithelium,
epstein-barr,
equine,
ercole,
erdheim-chester,
ermine,
erosive,
eruption,
erythema,
erythematosus,
erythermalgia,
erythroblastic,
erythroblastopenia,
erythrocyte,
erythroderma,
erythrokeratodermia,
erythromelalgia,
erythropoietic,
esophageal,
esophagitis,
esophagus,
esotropia,
essential,
ester,
esthesioneuroblastoma,
estrogen,
ethylene,
ethylmalonic,
euhidrotic,
eulenburg,
eunuchoidism,
evans,
everted,
ewing,
excavatum,
excess,
excessive,
exencephaly,
exfoliative,
exner,
exomphalos,
exophthalmos,
exostoses,
expansile,
expression,
exstrophy,
extensor,
external,
extracutaneous,
extramammary,
extrapyramidal,
extravasations,
extremities,
extrinsic,
eye,
eyebrow,
eyebrows,
eyelashes,
eyelids,
eyes,
F
face,
faces,
facharzt,
facial,
facies,
facio,
facio-audio-symphalangism,
facio-genito-popliteal,
faciocardiomelic,
faciocardiorenal,
faciocranial,
faciooculoacousticorenal,
facioscapulohumeral,
factor,
factor-negative,
factor-positive,
factors,
fahl,
fahr,
failure,
fairhurst,
fallot,
familial,
familial,
fanconi,
fara-chlupackova,
farag,
fardeau,
fasciitis,
fat,
fatal,
fatty,
faulk-epstein-jones,
favism,
fazio-londe,
fcd,
features,
febrile,
feet,
feingold,
feinmesser,
felty,
female,
femoral,
femoral-facial,
femur,
femur-fibula-ulna,
ferlini-ragno-calzolari,
fernhoff-blackston-oakley,
ferritinemia,
fetal,
fetalis,
fever,
fg,
fgfr3,
fiber,
fibre,
fibrillary,
fibrillation,
fibrinogen,
fibrochondrogenesis,
fibrodysplasia,
fibroelastosis,
fibrofolliculoma,
fibromatosis,
fibromuscular,
fibromyalgia,
fibronectin,
fibrosarcoma,
fibrosing,
fibrosis,
fibrous,
fibular,
fibulo,
field,
fifth,
filariasis,
filiforme,
filippi,
filtration,
final,
fineman,
finger,
fingerprint,
fingers,
fingertip,
finlay-markes,
finnish,
fish-odor,
fissure,
fistula,
fistulous,
fitzsimmons,
fitzsimmons-guilbert,
fitzsimmons-mclachlan-gilbert,
fiumara,
fixation,
fixed,
fixen,
flammei,
flavimaculatus,
flavoprotein,
flegel,
flexural,
floating-harbor,
florid,
flotch,
flutter,
flynn,
focal,
foetal,
foeto-foetal,
foix,
folate,
folinic,
follicular,
follicularis,
following,
fontaine,
foot,
foramina,
forelock,
form,
formiminoglutamic,
forms,
forney-robinson-pascoe,
foveal,
fowler-christmas-chapple,
fractures,
fragile,
fragility,
fragoso,
franceschetti-klein,
francois,
franek,
fraser,
frasier,
frayh,
free,
free-living,
freezing,
freire,
freire-maia,
french,
french-canadian,
frenula,
frias,
fried,
friedreich,
friedreich-like,
from,
frontal,
frontalis,
fronto,
frontofacionasal,
frontometaphyseal,
frontonasal,
frontotemporal,
froster-iskenius-waterson,
fructokinase,
fructose-1-phosphate,
fructose-16-bisphosphatase,
fruit,
fryns,
fryns-aftimos,
fryns-hofkens-fabry,
fryns-smeets-thiry,
fucosidase,
fukuda,
fukuhara,
fukuyama,
full,
fulminans,
fumarase,
fumarylacetoacetase,
function,
fundus,
fungoides,
furlong,
furukawa,
furuncular,
fuse,
fused,
fusion,
G
g6pd,
gaba,
gago,
gain,
gaisbock,
gait,
galactocerebrosidase,
galactosamine-6-sulfatase,
galactosaminidase,
galactosemia,
galactosialidosis,
galen,
galian,
gallbladder,
galloway-mowat,
gamborg,
game-friedman-paradice,
gamma,
gamma-glutamyl,
gamma-glutamylcysteine,
gamma-sarcoglycanopathy,
gammapathy,
gamstorp,
ganglia,
gangliocytoma,
ganglioneuroblastoma,
ganglionic,
gangliosidosis,
gangrenosum,
gapo,
garcia,
gardner,
gardner-morrison-abbott,
garret,
garrity,
gastric,
gastritis,
gastrocutaneous,
gastrointestinal,
gastroschisis,
gaucher,
gay,
gazali,
gazali-aziz-salem,
gazali-nair,
geen,
geest,
gelastic,
gelatinous,
gelehrter,
geleophysic,
gelineau,
gemignani,
gemss,
gene,
generalisata,
generalized,
genetic,
geniospasm,
genital,
genitalia,
genochondromatosis,
genuardi,
geographic,
gerhardt,
germ,
german,
germinoma,
geroderma,
gerstmann-straussler,
gestationis,
ghost,
giannika,
giant,
gigantism,
gilles,
gingival,
girdle,
gitelman,
gland,
glandularis,
glanzmann,
glaucoma,
glioblastoma,
glioma,
global,
globodontia,
globulin,
glomerulonephritis,
glomerulopathy,
glomuvenous,
glossopalatine,
glucagonoma,
glucocorticoid,
glucose-6-phosphatase,
glucose-galactose,
glucosephosphate,
glucosuria,
glucuronosyltransferase,
glut1,
glutamine,
glutaricaciduria,
glutathione,
glyceraldehyde-3-phosphate,
glycerate,
glycerol,
glycine,
glycinemia,
glycogen,
glycogenosis,
glycol,
glycoprotein,
glycosylphosphatidylinositol,
gm2,
gm2-gangliosidosis,
gms,
gnathodiaphyseal,
godman,
goiter,
goiter-deafness,
golabi-rosen,
goldberg,
goldberg-shprintzen,
goldblatt,
goldenhar,
goldmann-favre,
goldstein,
goldston,
gombo,
gonadal,
gonadotroph,
gonadotropic,
gonadotropin-dependant,
gonococcal,
gonodal,
gonzalez,
goodman,
gordon,
gorlin,
gracile,
graft,
grafts,
grain,
grant,
granular,
granulation,
granulocytic,
granuloma,
granulomatosis,
granulomatous,
gravis,
gray,
grebe,
greenberg,
greying,
grfoma,
gronblad-strandberg-touraine,
groove,
grote,
grouchy,
growth,
gtn,
gtpch,
gu,
guadalajara,
guadeloupe,
guarner,
guion,
gurrieri-sammito-bellussi,
gusher,
gustavson,
gynecomastia,
gyrata,
gyrate,
H
habitus,
had,
haemangioma,
haemangiomatosis,
haemochromatosis,
haemodialysis,
haemoglobin,
haemolytic,
haemolytic-uremic,
haemorragic,
haemorrhage,
haemosiderosis,
hagemoser,
hailey-hailey,
haim-munk,
hair,
hairan,
hairs,
hairy,
haj,
halal,
halal-setton-wang,
hall,
hallervorden-spatz,
hallux,
hamanishi,
hamano,
hamartoblastoma,
hamartoma,
hamartomas,
hamel,
hand,
handmaker,
hanot,
haque,
hard,
harding,
hardman,
hardwick,
harlequin,
harrod,
hartnup,
hartsfield,
hashimoto,
hashomer,
haspeslagh-fryns-muelenaere,
hauwere-leroy-adriaenssens,
hawkins,
hawkinsinuria,
haworth,
hayasaka,
hayden,
hbv,
hcv,
head,
headache,
headed,
hearing,
heart,
heaton,
heavy-chain,
hec,
hecht,
heckenlively,
heide,
heise,
helicoid,
helmerhorst,
hemangioendothelioma,
hemangioma,
hemangioma-thrombocytopenia,
hemangiomas,
hemangiopericytoma,
hematopoietic,
hematuria,
hemeralopia,
hemi,
hemiconvulsion-hemiplegia-epilepsy,
hemifacial,
hemihypertrophy,
hemimelia,
hemimelica,
hemiplegia,
hemiplegic,
hemivertebrae,
hemochromatosis,
hemoglobin,
hemolytic,
hemophilia,
hemorrhage,
hemorrhagic,
henkin,
hennekam,
hennekam-beemer,
henoch-schoenlein,
henselae,
heparin-induced,
hepatic,
hepatitis,
hepatoblastoma,
hepatocellular,
hepatolenticular,
hepatoportal,
hepatosplenic,
hepatosplenomegaly,
hereditarium,
hereditary,
heredopathia,
hermaphrodism,
hernandes,
hernandez,
hernandez-aguirre,
hernia,
herpes,
herpetiformis,
herrmann,
hersh-podruch-weisskopf,
herva,
heterotaxia,
heterotopia,
heterozygous,
hexokinase,
hht,
hibernian,
hiccup,
hickoc,
hid,
hidradenitis,
high,
high-molecular-weight,
hillig,
hinman,
hip,
hipopituitarism,
hippel-lindau,
hirschsprung,
hirsutism,
his,
histidase,
histidinuria,
histiocytic,
histiocytoma,
histiocytosis,
histolytica,
histoplasmosis,
hla,
hnscc,
hodgkin,
hoepffner,
holmes,
holmgren,
holoacardius,
holoprosencephaly,
holzgreve,
homocarnosinase,
homocystinuria,
hoon,
hopf,
hormonal,
hormone,
horn,
horseshoe,
host,
howard,
howell-evans,
hsd,
humeroradial,
humeroradioulnar,
humerospinal,
humeroulnar,
humerus,
hunter,
hunter-mcalpine,
hunter-rudd-hoffmann,
hunter-thompson-reed,
huntington,
huriez,
hutchinson-gilford,
hutt,
hutteroth,
hyaline,
hyalinosis,
hyaluronidase,
hydatidosis,
hyde-forster-mccarthy-berry,
hydradenoma,
hydranencephaly,
hydrocephalus,
hydrocephaly,
hydrolase,
hydrolethalus,
hydromelia,
hydrometrocolpos,
hydronephrosis,
hydrops,
hydroxykynureninuria,
hydroxylysinuria,
hydroxymethylglutaricaciduria,
hymenolepiasis,
hyper,
hyper-igd,
hyperactivity,
hyperalphalipoproteinemia,
hyperbilirubinemia,
hypercalcemia,
hypercalciuria,
hypercholesterolemia,
hypercoagulability,
hyperdibasic,
hyperekplexia,
hypereosinophilic,
hypergonadotropic,
hyperimidodipeptiduria,
hyperimmunization,
hyperinsulinemic,
hyperinsulinism-hyperammonemia,
hyperkeratosis,
hyperlaxity,
hyperlipidemia,
hyperlipoproteinemia,
hyperlymphocytosis,
hyperlysinemia,
hypermelanosis,
hypermethioninemia,
hypermobility,
hypernycthemeral,
hyperornithinemia-hyperammonemia-homocitrullinuria,
hyperostosid,
hyperostosis,
hyperostotic,
hyperoxaluria,
hyperparathyroidism,
hyperphenylalaninemia,
hyperphenylalaninemic,
hyperpigmentation,
hyperpigmented,
hyperpipecolatemia,
hyperplasia,
hyperplastic,
hyperprolinaemia,
hypersomnia,
hypertelorism,
hypertension,
hypertensive,
hyperthermia,
hyperthyroidism,
hypertrabeculation,
hypertrichosis,
hypertrichotic,
hypertriglyceridemia,
hypertrophic,
hypertrophy,
hypertryptophanemia,
hyperuricemia,
hypoaldosteronism,
hypobetalipoproteinaemia,
hypobetalipoproteinemia,
hypocalcemia,
hypocalciuria,
hypochondroplasia,
hypocomplementaemic,
hypocupraemia,
hypodermyiasis,
hypodonadotropic,
hypodontia,
hypogammaglobulinemia,
hypogenitalism,
hypoglycemia,
hypogonadism,
hypogonadotropic,
hypohidrotic,
hypokalemia,
hypokalemic,
hypokeratosis,
hypomagnesemia,
hypomandibular,
hypomelanosis,
hypomyelination,
hypoparathyroidism,
hypoparathyroidism-mental,
hypophosphatasia,
hypopigmentation,
hypopigmentation-deafness,
hypopigmented,
hypopituitarism,
hypoplasia,
hypoplastic,
hypoprothrombinemia,
hypospadias,
hypotelorism,
hypothalamic,
hypothyroidism,
hypotonia,
hypotonic,
hypotrichosis,
hypotrichosis-mental,
hypouricemia,
hypoventilation,
hystiocytic,
hystrix,
I
ia,
ib,
ibids,
ibm,
ic,
icca,
ice,
icf,
ichthyosiform,
ichthyosis,
ichthyosis-cheek-eyebrow,
id,
idi,
idiopathic,
ie,
if,
ig,
iga,
igm,
ih,
ii,
iia,
iib,
iid,
iie,
iii,
ij,
ik,
image,
imaizumi,
iminoglycinuria,
immune,
immunity,
immuno,
immunocompromised,
immunodeficiency,
immunoglobulin,
immunotactoid,
impairment,
imperfecta,
imperforate,
impetigo,
imploding,
impression,
inad,
inappropriate,
incessant,
incidentaloma,
incisor,
incisors,
inclusion,
inclusions,
incompetence,
indian,
indomethacin,
induced,
infancy,
infant,
infantile,
infants,
infection,
infections,
infectious,
inflammatory,
infrahepatic,
infundibulopelvic,
inguinal,
inherited,
inhibitor,
iniencephaly,
injection,
injury,
insensitivity,
insertion,
insipidus,
insomnia,
instability,
insufficiency,
insulin,
insulin-like,
insulin-resistance,
insulinoma,
intact,
integrin,
intellectual,
interauricular,
intercostal,
interdigitating,
interleukin-1,
intermittent,
interna,
internal,
interruption,
interstitial,
interval,
interventricular,
intestinal,
intoxication,
intracerebral,
intracranial,
intrahepatic,
intranuclear,
intraspinal,
intrinsic,
intrusion,
intubation,
inversus,
involvement,
iodine,
iosca,
iris,
iron,
irons-bhan,
ischio-spinal,
isobutyric,
isochromosome,
isolated,
isomerase,
isosporiasis,
isotretinoin,
isotretinoin-like,
isovaleric,
itin,
ito,
itp,
iv,
ivic,
J
jadassohn,
jae,
jancar,
jansen,
japanese,
jarid1c,
jaw,
jaw-winking,
jejunal,
jeune,
johanson-blizzard,
johnsen,
johnson,
joint,
jones,
judge,
jung,
jurenka,
juvenile,
juvenilis,
K
kabuki,
kaeser,
kahlen,
kaitila,
kaler,
kallmann,
kaloustian,
kapoor,
kaposiform,
karnes,
karp,
karsch,
kashani-strom-utley,
katsantoni,
kaufman,
kawasaki,
kawashima,
kbg-like,
kearns-sayre,
keloids,
kenny-caffey,
keratitis,
keratoacanthoma,
keratoconus,
keratoderma,
keratodermia,
keratolytic,
keratosis,
kerion,
kersey,
ketoaciduria,
ketotic,
keutel,
khalifa-graham,
kidney,
kidneys,
kieny,
kinase,
kinase-4,
kindler,
kininogen,
kinky,
kirghizian,
klein-waardenburg,
kleine-levin,
klinefelter,
klippel-feil,
kniest,
kniest-like,
knobloch,
known,
knuckle,
kocher-debre-semelaigne,
koomen,
koss,
koussef,
kousseff,
kowarski,
kozlowski,
kozlowski-krajewska,
krakauer,
kremp,
kudo,
kugelberg-welander,
kumar-levick,
kunze,
kuzniecky,
kyphoscoliosis,
kyrkanidou,
L
lachiewicz,
lacrimo-auriculo-dento-digital,
lactase,
lactate,
lactic,
lactotroph,
laere,
lafer,
lagoyanni,
lai,
laing,
lait,
lambdoid,
lambert-eaton,
lamellar,
lamont,
lanceolatus,
lange,
langer,
langerhans,
langslet,
lanuginosa,
large,
laron,
larsen,
larsen-like,
laryngeal,
laryngo-tracheo-esophageal,
laryngocele,
laryngomalacia,
larynx,
lassueur-graham-little,
late,
lateral,
laterality,
lathosterolosis,
laurence-moon,
laurin-sandrow,
laxa,
laxity,
laxova,
laxova-opitz,
layer,
lcat,
lch,
lchad,
ldl,
leak,
learman,
learning,
leber,
left,
leg,
legionellosis,
leiden,
leifer,
leigh,
leiomyoma,
leiomyomatosis,
leiomyosarcoma,
leipala,
leishmaniasis,
lennox-gastaut,
lentiginosis,
lentis,
lenz,
lenz-majewski,
leod,
leprosy,
leptin,
leptospirosis,
leri,
lesch-nyhan,
lesions,
letal,
lethal,
lethargica,
leucocytoclasic,
leuconychia,
leukaemia,
leukemia,
leukemic,
leukocyte,
leukodystrophy,
leukoencephalitis,
leukoencephalopathy,
leukoma,
leukonychia,
levic,
levy,
lewis-sumner,
leydig,
lgmd2k,
li-fraumeni,
liarikos,
lichen,
lichstenstein,
ligament,
ligneous,
like,
lima,
limb,
limb-blood,
limb-girdle,
limb-mammary,
limbic,
limbs,
limited,
lindsay-burn,
lineage,
linear,
linked,
linked,
lip,
lip-palate,
lip-pit,
lipidosis,
lipodystrophies,
lipodystrophy,
lipodystrophy-hiv,
lipoedema,
lipofuscinosis,
lipoma,
lipomatosis,
liposarcoma,
lisker-garcia-ramos,
lissencephaly,
listeriosis,
little,
lituania,
liver,
lobar,
lobe,
lobster-claw,
lobular,
localised,
localized,
locked,
loeys-dietz,
lohr,
loiasis,
long,
loose,
lopes,
lord,
lormans,
losonci,
loss,
louis,
low,
lowe,
lower,
lowry,
lubs-arena,
lucky,
ludman,
luis,
lujan-fryns,
lunate,
lundberg,
lung,
lupus,
lutz-lewandowsky,
luxation,
lyme,
lymphadenitis,
lymphangiectasia,
lymphangioleiomyomatosis,
lymphangioma,
lymphatic,
lymphoblastic,
lymphocyte,
lymphocytes,
lymphocytic,
lymphoedema,
lymphogranuloma,
lymphoid,
lymphoma,
lymphomas,
lymphomatoid,
lymphoplasmacytic,
lymphoproliferative,
lyngstadaas,
M
mac,
maccario,
mackay,
maclean,
macrencephaly,
macrocephaly,
macroglobulinemia,
macroglossia,
macrogyria,
macrophagic,
macrosomia,
macrostomia,
macrothrombocytopenia,
macula,
macular,
macules,
maculopathy,
mad,
madelung,
magna,
magnelli,
magnesium,
maia,
majoor,
major,
malabsorption,
malabsorptive,
malakoplakia,
malaria,
maldergem,
male,
malformation,
malformations,
malformed,
malherbe,
malignant,
mallek,
mallory,
malonic,
malposition,
malrotation,
malt,
maltase,
mammary,
mancer,
mandibular,
mandibulofacial,
mansonellosis,
mantle,
mantoux,
maoa,
marashi,
marchiafava-micheli,
marden,
marden-walker,
marec,
marfan,
marfanoid,
marginal,
marie,
marinesco-sjogren,
markesbery-griggs,
marles,
marmorata,
maroteaux,
marrow,
marshall,
martin,
martin-probst,
martinez,
masa,
massen,
mast,
mastitis,
mastocytoma,
mastocytosis,
maternal,
maternally,
matsoukas,
matsumoto,
matter,
maturation,
maturity,
maxillary,
may-hegglin,
mayer,
mazabraud,
mc,
mc4r,
mcalister,
mccune-albright,
mcgillivray,
mcintosh,
mclain,
mcops2,
mcops4,
mcpherson-hall,
mdc1a,
meacham,
mechanical,
meckel-gruber,
meconium,
medial,
median,
mediastinitis,
mediterranean,
medium,
medrano,
medullary,
medulloblastoma,
mega-cisterna,
megacalycosis,
megacaryoblastic,
megacolon,
megalencephalic,
megalencephaly,
megalo-ureter,
megaloblastic,
megalocornea,
megalocystis,
megalophthalmia,
mehmo,
meinecke,
melanocytosis,
melanoma,
melanoma-pancreatic,
melanosis,
melas,
melhem,
melioidosis,
melkersson,
mellitus,
mellor,
melnick-needles,
melorheostosis,
membrane,
membrane-stabilizing,
membranous,
men,
mena,
mendes,
mendoza,
meninge,
meningioma,
meningitis,
meningocele,
meningococcal,
mental,
mental,
mercury,
merosin,
mesangial,
mesangiocapillary,
mesenchymal,
mesenteric,
mesentery,
mesoblastic,
mesocardia,
mesodermal,
mesomelia,
mesomelic,
mesosomatous,
mesothelioma,
metabolism,
metacarpal,
metacarpals,
metachondromatosis,
metageria,
metaphyseal,
metaplasia,
metatarsal,
metatropic,
methanol,
methemoglobinemia,
methimazole,
methionine,
methotrexate,
methyl,
methylation,
methylenetetrahydrofolate,
methylmalonic,
methylmalonicaciduria,
methyltranferase,
mevalonate,
meyer,
mga,
mibelli,
michels,
mickleson,
mickulicz,
micrencephaly,
micro,
microbrachycephaly,
microcephalic,
microcephalus,
microcephaly,
microcoria,
microcornea,
microcytic,
microdeletion,
microdontia,
microgastria,
micrognathia,
micrognatia,
microlissencephaly,
microlithiasis,
micromelic,
micropenis,
microphtalmos,
microphthalmia,
microphthalmos,
microscopic,
microsomia,
microspherophakia,
microsporidiosis,
microstomia,
microtia,
midas,
middle,
midface,
midfacial,
midline,
mietens,
mievis,
migraine,
migrant,
migration,
migrational,
migrognathia,
milad,
mild,
miles-carpenter,
mimouni,
mineralocorticoid,
minkowski-chauffard,
minoxidil,
miosis,
miranda,
miras,
mirror,
misch,
mitochondrial,
mitral,
miura,
mixed,
mixed-type,
miyanomae,
miyoshi,
mngie,
moderate,
moerman,
mohr,
mole,
monilethrix,
monoamine,
monoblastic,
monochloroacetate,
monoclonal,
monocytopenia,
monodactylous,
monodactyly,
mononen,
monophosphate,
montefiore,
montreal,
moore,
morava-mehes,
morhosseini-holmes-walton,
morm,
morse,
morsier,
mosaic,
mosaicism,
motor,
mounier-kuhn,
mountain,
moya-moya,
moynahan,
mpo,
mrkh,
msa,
mseleni,
muckle-wells,
mucocutaneous,
mucoepithelial,
mucolipidosis,
mucopolysaccharidosis,
mucormycosis,
mucosae,
mucosal,
mucosulfatidosis,
mueller,
muir-torre,
mulibrey,
muller,
mullerian,
multicentric,
multicystic,
multifocal,
multilineage,
multiminicore,
multiple,
multiplex,
mulvihill-smith,
mundel,
munnich,
murine,
muscle,
muscular,
musculorum,
mutase,
mutation,
mutations,
mutilans,
myalgia,
myalgic,
myasthenia,
myasthenic,
mycetoma,
mycobacteria,
mycoplasma,
mycosis,
myelinoclastic,
myelitis,
myeloblastic,
myelodysplasia,
myelodysplastic,
myelofibrosis,
myelogenous,
myeloid,
myelokathexis,
myeloma,
myelomeningocele,
myelomonocytic,
myelopathy,
myeloproliferative,
myiasis,
myoclonic,
myoclonus,
myofasciitis,
myofibrillary,
myofibromatosis,
myoglobinuria,
myokymia,
myopathic,
myopathy,
myopia,
myositis,
myotonia,
myotonic,
myotubular,
myxoedematosus,
myxofibrosarcoma,
myxoma,
N
naegeli-franceschetti-jadassohn,
nager,
nail,
nail-patella,
nails,
nakajo,
nakamura,
nakao,
nakata,
name,
nance,
nance-horan,
nanism,
nanophthalmia,
narcolepsy,
narp,
narrow,
nasal,
nash,
naso,
nasodigitoacoustic,
nasopalpebral,
nasopharyngeal,
nasu-hakola,
natal,
natum,
natural-killer,
neck,
necks,
necrolysis,
necrosis,
necrotizing,
negative,
negrete,
nemaline,
neonatal,
neoplasia,
neovascular,
nephritis,
nephroblastoma,
nephroblastomatosis,
nephrocalcinosis,
nephrogenic,
nephroma,
nephronophtisis,
nephropathy,
nephrosis,
nephrotic,
neri,
nerve,
nervosa,
nervous,
neu-laxova,
neugebauer,
neuhauser,
neural,
neuralgic,
neuralgiform,
neurinoma,
neuroacanthocytosis,
neuroaxonal,
neurocutaneous,
neurocytoma,
neurodegeneration,
neurodegenerative,
neuroectodermal,
neuroendocrine,
neuroepithelioma,
neurofibromatosis,
neurogenic,
neuroleptic,
neurologic,
neurological,
neurometabolic,
neuromusculoskeletal,
neuromyelitis,
neuromyotonia,
neuronal,
neuronopathic,
neuronopathy,
neuropathy,
neurosensory,
neuroserpin,
neurotrophic,
neutral,
neutropenia,
neutrophil,
neutrophilic,
nevi,
nevo,
nevoid,
nevus,
newborn,
newcomer,
nichols,
nielsen,
niemann-pick,
nieto,
nievergelt,
nigricans,
nikolic,
nipples,
nk,
nk-cell,
nocardiosis,
nodal,
node,
nodosa,
nodular,
nodule,
nodulosis,
nonaka,
noncerebral,
nonpolyposis,
nonspecific,
nonspherocytic,
nonsyndromic,
noonan,
normal,
normocalciuria,
normokalemic,
norrbotten,
norrie,
nose,
not,
notch3-related,
nova,
novo,
nucleoside,
nystagmus,
O
o11,
oa-1,
obesity,
obliterans,
obstructed,
obstruction,
obstructive,
oca,
occipital,
occlusion,
occlusive,
occult,
ocular,
oculo,
oculo-osteo-cutaneous,
oculo-oto-facial,
oculo-palato-cerebral,
oculocerebral,
oculocerebrofacial,
oculocerebrorenal,
oculodentodigital,
oculogastrointestinal,
oculomaxillofacial,
oculopharyngeal,
odonto,
odonto-onycho-dermal,
odonto-tricho-ungual-digito-palmarn,
odontomaxillary,
odontomicronychial,
oedema,
oeis,
oguchi,
ohdo,
ohss,
okamoto,
oligoarthritis,
oligocone,
oligodactyly,
oligodendroglioma,
oligodontia,
oligomeganephronia,
oligophrenia,
oligospermia,
oliver,
olivopontocerebellar,
olmsted,
omenn,
omodysplasia,
omphalocele,
omphalomesenteric,
onat,
onchocerciasis,
onset,
onychial,
onychic,
onycho,
onychodysplasia,
onychodystrophy,
opacity,
opalescent,
ophryogenesis,
ophtalmomandibulomelic,
ophtalmoplegia,
ophthalmia,
ophthalmoplegia,
opioid,
opitz,
oppg,
opposable,
opsismodysplasia,
optic,
optica,
opticoacoustic,
oral,
orbital,
organ,
organizing,
orifice,
origin,
oris,
ornithine,
oro,
orofacial,
orofaciodigital,
oropharynx,
oroticaciduria,
osame,
oslam,
osler-vaquez,
osmed,
osseous,
ossificans,
ossification,
ossifying,
osteitis,
osteoarthropathy,
osteoblastoma,
osteochondrodysplasia,
osteochondrodysplatic,
osteochondromatosis,
osteochondroplastica,
osteoclastic,
osteodysplasia,
osteodysplastic,
osteodysplastica,
osteodystrophy,
osteogenesis,
osteogenic,
osteoglophonic,
osteolysis,
osteomyelitis,
osteopaenia,
osteopathia,
osteopenia,
osteopetrosis,
osteopoikilosis,
osteoporosis,
osteosclerosis,
osteosclerotic,
ota,
other,
otherwise,
otoonychoperoneal,
otopalatodigital,
otosclerosis,
outlet,
outstanding,
ouvrier,
ovarian,
overgrowth,
overgrowth-craniosynostosis-arthrogryposis,
overhydrated,
overlapping,
overload,
overriding,
oxidase,
oxycephaly,
oxydase,
oxydoreductase,
P
p2y12,
pachygyria,
pachyonychia,
paediatric,
paf,
paget,
pagon,
pai,
pain,
painful,
palagonia,
palate,
pallidoluysian,
pallister,
palm,
palmaris,
palmitoyl,
palmo-plantar,
palmoplantar,
palmoplantar-periodontopathy,
palmoplantaris,
palsy,
pan,
pancreas,
pancreatic,
pancreatitis,
pancreatoblastoma,
pancytopenia,
panencephalitis,
panniculitis,
panniculitis-like,
pantelakis,
papa,
papadakou,
papillary,
papilloma,
papillomatosis,
papular,
paracoccidioidomycosis,
paraganglioma,
paralysis,
paramyotonia,
parana,
paraneoplastic,
paraparesis,
paraplegia,
paraquat,
parastremmatic,
parathyroid,
parc,
paresis,
parietalia,
paris-trousseau,
parkinson,
parkinsonism,
paroxysmal,
partial,
partington,
partington-anderson,
parvovirus,
patella,
patella-like,
patellae,
patent,
paternal,
pathway,
patients,
patterned,
patterson,
patterson-lowry,
pauci-immune,
paucity,
pavone,
pca,
pcarp,
pearson,
pectus,
peculiar,
peel,
pellagra,
pelvic,
pelvis,
pelviscapular,
pemphigoid,
pemphigus,
penis,
penoscrotal,
pentalogy,
pentosuria,
perceptive,
perforans,
perforating,
pericardial,
pericarditis,
pericardium,
perilymphatic,
perineural,
perineurioma,
periodic,
periorificial,
peripapillary,
peripartum,
peripheral,
peritoneal,
peritumoral,
periventricular,
permagna,
permanent,
peroniere,
persaud,
persistence,
persistent,
pertussis,
pes,
pessagno,
peters,
petty,
peyronie,
pfeiffer,
phace,
phacomatosis,
phaeochromocytoma,
phalangeal,
phalanges,
phalango-epiphyseal,
pharyngitis,
phaver,
phenobarbital,
phenomenon,
phenotype,
phenotypic,
phenylketonuria,
philadelphia,
phocomelia,
phocomelic,
phosphatase,
phosphate-isomerase,
phosphate-responsive,
phosphoglucomutase,
phosphoglycerate,
phosphoribosylpyrophosphate,
phosphoribosyltransferase,
phosphorylase,
photophobia,
photosensitivity,
phytosterolemia,
pibids,
picaud,
piebald,
piebaldism,
piepkorn,
pierpont,
pierquin,
pierre,
pigment,
pigment-dispersion,
pigmentary,
pigmentation,
pigmented,
pigmentokeratotica,
pigmentosa,
pigmentosum,
pigmentovascularis,
pilaris,
pili,
pilotto,
pinheiro,
pinnae,
pitt-hopkins,
pituitary,
pityriasis,
piussan-lenaerts-mathieu,
placidi,
placoid,
plagiocephaly,
plague,
plana,
plantaris,
planus,
plasmacytoma,
plasmalogenes,
plasminogen,
platelet,
platyspondylic,
platyspondyly,
pleonosteosis,
pleuro-pulmonary,
plexus,
plummer-vinson,
pneumoblastoma,
pneumococcal,
pneumococcemia,
pneumocystosis,
pneumonia,
pneumonitis,
pneumothorax,
pneumotitis,
pods,
poikilo-dermatomyositis,
poikiloderma,
pointes,
poisoning,
poland,
poliomyelitis,
pollitt,
polyadenomatosis,
polyangiitis,
polyarteritis,
polyarthritis,
polyatresia,
polychondritis,
polycystic,
polycythaemia,
polydactyly,
polyendocrinopathy,
polymicrogyria,
polymorphic,
polymyositis,
polyneuritiformis,
polyneuropathy,
polypeptidoma,
polyploidy,
polyposis,
polyps,
polysyndactyly,
pombo,
pontocerebellar,
pope,
pophyria,
popliteal,
porencephaly,
porokeratosis,
porphyria,
portal,
post,
post-axial,
post-neonatal,
post-poliomyelitic,
post-transplant,
postaxial,
postencephalitic,
posterior,
potassic,
potassium,
potter,
powell,
pparg,
pqbp1,
pr,
prader-willi,
praecox,
preauricular,
preaxial,
precocious,
predisposition,
predominant,
preexcitation,
preeyasombat-varavithya,
pregnancy,
preis,
prekallikrein,
premature,
prematurity,
presenile,
preus,
primary,
primordial,
pro-opiomelanocortin,
procedures,
proctitis,
progeroid,
prognathism,
progrediens,
progressiva,
progressive,
prohormone,
prolapse,
prolerating,
prolymphocytic,
properdin,
proptosis,
prosencephaly,
prostate,
protein,
proteinosis,
proteins,
proteinuria,
protoporphyria,
protuberans,
proximal,
pruritus,
pseudo-pelade,
pseudo-von,
pseudo-zellweger,
pseudoachondroplasia,
pseudoarthrosis,
pseudoarylsulfatase,
pseudobulbar,
pseudodiastrophic,
pseudohermaphrodism,
pseudohermaphroditism,
pseudohyperkalaemia,
pseudohypoaldosteronism,
pseudohypoparathyroidism,
pseudoleprechaunism,
pseudomonas,
pseudoobstruction,
pseudopapilledema,
pseudorheumatoid,
pseudothalidomide,
pseudotumor,
pseudotyphus,
psoriasis,
psoriatic,
psp,
psychogenic,
psychomotor,
pterygium,
ptosis,
puberty,
pudendal,
pulmonar,
pulmonary,
pulmonic,
punctata,
punctate,
pure,
purine,
purpura,
purtilo,
pustular,
pustulosis,
pycnodysostosis,
pyknoachondrogenesis,
pyle,
pyoderma,
pyomyositis,
pyorrhea,
pyramidal,
pyridoxal,
pyridoxin-dependent,
pyruvate,
Q
qt,
qter,
quadriparesia,
quadriparesis,
quadriplegia,
quintana,
R
rabies,
rabson-mendenhall,
racemase,
rachischisis,
radial,
radiation,
radio,
radio-ulnar,
radioulnar,
radius,
rambaud,
ramji,
rapadilino,
raphe,
rapp-hodgkin,
rasmussen,
rat-bite,
rawnsley,
ray,
raynaud,
rb-ild,
re-infection,
reactive,
receptor,
receptor-associated,
receptors,
recessive,
recipients,
rectal,
recurrent,
reducing,
reductase,
reduction,
reflex,
refractory,
refsum,
regemorter,
regenerative,
regional,
regression,
rehder,
reimers,
reinhardt,
rejection,
relapsing,
related,
renal,
reno,
requiring,
resection,
resistance,
resistant,
respiratory,
restrictive,
retardation,
retardation,
retardation-dysmorphism,
retarded,
reticularis,
reticuloendotheliosis,
retina,
retinal,
retinitis,
retinoblastoma,
retinohepatoendocrinologic,
retinopathie,
retinopathy,
retinoschisis,
retraction,
retroperitoneal,
rett,
return,
reunion,
reversal,
reynolds,
rh,
rhabdoid,
rhabdomyosarcoma,
rheumatic,
rheumatoid,
rhizomelic,
rhombencephalosynapsis,
rib,
richieri,
richiericosta-pereira,
rickets,
rickettsialpox,
riedel,
rieger,
riehm,
riggs,
right,
rigid,
ring,
rings,
ripert,
rippberger,
rippling,
rivera-perez-salas,
rizzo,
robin,
robinow,
robinow-like,
robinow-sorauf,
roch-leri,
rocky,
rod,
rodriguez,
roger,
roifman-melamed,
roldan,
rolled,
rombo,
rommen,
romshe,
rootless,
rosenberg,
rosenthal,
rothmund-thomson,
rotor,
round,
roussy,
roy,
rozdilsky,
rubella,
rubinstein-taybi,
rubra,
rudiger,
rustin,
ruvalcaba,
S
saccadic,
saccharopine,
sack,
sacral,
sacrococcygeal,
saethre-chotzen,
sagittal,
sakati,
salivary,
salmonellosis,
san,
sanchez,
sanctis-cacchione,
sandford,
sandifer,
sando,
santos,
sapho,
sarcocystosis,
sarcoma,
sarcosin,
sargent,
satoyoshi,
saul,
saul-wilson,
savarirayan,
say,
scalp,
scan,
scan1,
scapula,
scarf,
scarlet,
scarring,
scheltens,
scheuermann,
schimke,
schinzel,
schinzel-giedion,
schisis,
schistosomiasis,
schizencephaly,
schizophrenia,
schlegelberger,
schmid,
schneckenbecken,
schofer,
schutz,
schwannoma,
scimitar,
sclerae,
scleroatonic,
sclerocornea,
sclerodactyly,
scleroderma,
sclerosing,
sclerosis,
sclerosis-parkinsonism-dementia,
sclerosus,
scoliosis,
scot,
scott,
scrotal,
scrotum,
scrub,
sebaceous,
sebocystomatosis,
seckel,
secreting,
secretion,
seemanova,
segment,
segmental,
segmentation,
seip,
seizures,
selective,
self-healing,
sella,
seller,
sellier,
semialdehyde,
senac,
sensitive,
sensorineural,
sensory,
sepiapterin,
sepsis,
septal,
septum,
sequeiros,
sequence,
sequestration,
serca1,
serine,
serotoninergic,
serotype,
serpiginosa,
serpiginosum,
severe,
sex,
sexual,
sgbs2,
shaltout,
shaped,
shapiro,
sharma,
shashi,
shawl,
shearer,
sheehan,
shek,
shigellosis,
shock,
short,
short-lasting,
shortened,
shortening,
shoulder,
shprintzen,
shrimpton,
shuper,
sialic,
sialidosis,
sialuria,
sibids,
sibley,
sickle,
siderius,
sideroblastic,
siegler,
siemens,
signs,
silengo,
silva,
silver,
silver-russell,
silverman,
simple,
simplex,
singh-williams-mcalister,
single,
singleton-merten,
sino-auricular,
sinopulmonary,
sinus,
sinuses,
sirenomelia,
situs,
sjaastad,
skeletal,
skeleto,
skin,
skull,
slack,
sleep,
slk,
sloan,
slow,
small,
smet-fabry-fryns,
smith-lemli-opitz,
sneddon,
snowflake,
snyder,
solar,
solitary,
somatostatinoma,
sorensen,
spahr,
spanish,
sparse,
spasms,
spastic,
spasticity,
specified,
spectrum,
speech,
spellacy,
spherophakia-brachymorphia,
sphingomyelinase,
spike-wave,
spina,
spinal,
spine,
spinocerebellar,
spinulosa,
spiral,
splenic,
splenogonadal,
split,
spondylarthritis,
spondylo,
spondylo-ocular,
spondylocarpotarsal,
spondylocostal,
spondyloenchondrodysplasia,
spondyloepimetaphyseal,
spondyloepiphyseal,
spondylohypoplasia,
spondylometaphyseal,
spondyloperipheral,
spongiform,
spongiosis,
spontaneous,
sporadic,
sporotrichosis,
spots,
spotted,
spranger,
spring,
squamous,
st,
stahl,
stampe,
stanescu,
stapes,
staphylococcal,
stature,
status,
steatocystoma,
steer,
stefanovic,
stem,
stenosis,
stephan,
stern,
sternal,
sternum,
steroid-sensitive,
steroidogenesis,
sterol,
stevenson,
stiff,
stiff-man,
stimmler,
stippling,
stocco,
stoelinga,
stoll,
stomatitis,
stomatocytosis,
storage,
stormorken,
strabismus,
straddling,
streptococcus,
striata,
striatal,
striations,
striato,
stroke,
strom,
stromal,
structural,
struma,
stuccokeratosis,
sturge-weber,
stuve-wiedemann,
subacute,
subaortic,
subarachnoid,
subcornealis,
subcutaneous,
subnormality,
subpulmonary,
subvalvular,
succinic,
sudden,
sujansky-leonard,
sulphite,
summitt,
superactivity,
superficial,
superneau,
supernumerary,
suppurativa,
suprabulbar,
supraumbilical,
supravalvar,
supravalvular,
surgery,
surgical,
susac,
susceptibility,
swedish,
swiss,
sybert,
symmetric,
symmetrical,
sympathetic,
symphalangism,
syndactylism,
syndactyly,
syndactyly-polydactyly-ear,
syndesmodysplasic,
syndrom,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndrome,
syndromes,
syndromic,
synechia,
syngnathia,
synostoses,
synostosis,
synovialosarcoma,
synovitis,
synthase,
synthesis,
synthetase,
synthetic,
system,
systemic,
systemic-onset,
T
tabatznik,
tachyarrhythmia,
tachycardia,
tags,
takagi,
takayasu,
talabani,
talipes,
tall,
tamura,
tangier,
tapetoretinal,
tar,
tarda,
tarsal,
tarsal-carpal,
taurinuria,
taurodontia,
taurodontism,
tdo,
tearing,
teebi,
teeth,
tel,
telangiectases,
telangiectasia,
telangiectatica,
telecanthus,
teller,
temporal,
temporary,
tendons,
ter,
teratoma,
terminal,
testes,
tetanus,
tetraamelia,
tetralogy,
tetramelic,
tetrasomy,
thai,
thalamic,
thalassemia,
thalidomide,
thanatophoric,
thermosensitive,
thiamin,
thickened,
thickness,
thin,
thiolase,
thiopurine,
thompson,
thomsen,
thoracic,
thoraco,
thoracolaryngopelvic,
thorax,
thost-unna,
thrive,
throat,
thrombasthenia,
thromboangiitis,
thrombocythemia,
thrombocytopenia,
thrombocytopenic,
thromboembolic,
thrombomodulin,
thrombotic,
thumb,
thumbs,
thumbs-arthrogryposis,
thurston,
thymic,
thymus,
thyroglossal,
thyroid,
thyroiditis,
thyrotoxic,
thyrotrophic,
tibia,
tibiae,
tibial,
tibio,
tick,
tick-borne,
tinnitus,
tissue,
toluene,
tome,
tongue,
tonic,
toriello,
torrance-luton,
torres,
torsade,
torti,
torticolis,
torticollis,
tortuosity,
totalis,
tourette,
townes-brocks,
toxic-shock,
toxicity,
toxocariasis,
toxopachyoteose,
toxoplasma,
toxoplasmosis,
tracheal,
tracheobronchopathia,
tracheoesophageal,
tract,
trainer,
trait,
transaminase,
transcobalamin,
transfer,
transferase,
transfusion,
transgrediens,
transient,
translocase,
transpeptidase,
transplant,
transplantation,
transport,
transporter,
transposition,
transverse,
trauma,
traumatic,
treatment,
tremor,
triad,
trianguli,
triatrial,
trichilemmal,
trichinellosis,
tricho,
tricho-hepato-enterique,
tricho-odonto-onychial,
trichodysplasia,
trichoepithelioma,
trichofolliculoma,
trichomalacia,
trichorhinophalangeal,
trichostasis,
tricuspid,
tricyclic,
trifunctional,
triglycerid,
trigonocephaly,
trihydroxycholestanoyl-coa,
trimethadione,
triolle,
triopia,
triose,
triphalangeal,
triphosphatase,
triplo,
tripp,
trochlea,
trochlear,
true,
trunk,
trypanosomiasis,
tryptophan,
tsuji,
tsukamoto,
tube,
tubercle,
tuberculosis,
tubular,
tubulointerstitial,
tubulopathy,
tufted,
tularaemia,
tumor,
tumoral,
tumors,
tumour,
tumours,
tungiasis,
tunnel,
turcica,
turner,
turnpenny,
turricephaly,
tylosis,
type,
type,
type,
type,
type,
type,
typed,
types,
typhus,
typical,
tyrosine,
tyrosinemia,
U
udpm,
ueba,
uhl,
ulceration,
ulcerative,
ulerythema,
ulna,
ulnar,
umbilical,
umbilicus,
unclassifiable,
unclassified,
unexplained,
unilateral,
uniparental,
univentricular,
universalis,
unknown,
unna,
unresponsive,
unspecified,
unusual,
upper,
upward,
urachal,
uremic,
ureteral,
urethra,
urethral,
uridinediphosphate,
urinary,
urogenital-intestinal,
urolithiasis,
urophathy,
urticaria,
used,
uterus,
uterus-hemivagina-renal,
uveae,
uveal,
uveitis,
V
vacterl,
vagina,
vaginal,
vagneur,
valgus,
valley,
valproic,
valsalva,
valve,
valvular,
vamos,
van,
vara,
variabilis,
variant,
varicella,
variegated,
varus,
vas,
vascular,
vasculitis,
vasculopathy,
vegetative,
vein,
veins,
velofacioskeletal,
velopharyngeal,
venencie,
veno-occlusive,
venoocclusive,
venous,
ventilation,
ventricle,
ventricular,
ventriculo-arterial,
verellen,
verloes,
vermiculata,
vermis,
verruciformis,
verrucous,
versus,
vertebrae,
vertebral,
vertex,
verticis,
vertigo,
very,
vessel,
vessels,
vestibulocochlear,
vetebral,
vi,
vii,
viii,
viljoen,
villonodular,
villous,
vipoma,
viral,
virilizing,
virus,
visceral,
viscerum-cardiopathy,
vitale,
vitamin,
vitamine,
vitiligo,
vitreoretinal,
vitreoretinochoroidopathy,
vitreous,
vocal,
vocalization,
voerner,
vogt-koyanagi-harada,
von,
vulgaris,
vulvovaginal,
vuopala,
W
waardenburg,
waardenburg-shah,
wachtel,
wagner,
walker,
walker-warburg,
wall,
wallis,
walson,
warm,
warts,
wasting,
weakness,
weary,
weaver,
weaver-williams,
web,
webb,
weber,
wegener,
weinstein,
weisskopf,
wenick,
werner,
west-nile,
western,
weyers,
whistling,
white,
whorled,
wieacker-wolff,
wiedemann,
wilkes,
willebrand,
wilms,
wilson,
winchester,
winkelmann,
winn,
winship,
winter,
wissler-fanconi,
with,
without,
wittebol,
wittner,
wittwer,
wolff,
wolfram,
wolman,
woolly,
wormian,
worth,
wright,
wrinkly,
wrist,
wt,
X
xanthic,
xeroderma,
xi,
xii,
xiii,
xp,
xp22,
xp3,
xpter,
xq,
xq13,
xq28,
xx,
xy,
Y
yale,
yatziv,
yellow,
yilmaz,
young,
Z
zap70,
zebra,
zinc,
ziter,
zollinger-ellison,
zone,
zorick,
|
| |
|
