List of rare diseases - E-L
This is a list of 6073 rare conditions (diseases and syndromes), compiled from different information sources (Orphanet, NORD etc.). It is not exhaustive, but can be used for educational and illustrative purposes.
 Download the list of rare diseases - click here
(English, PDF format, size 117 Kb)
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-E-
ear patella short stature syndrome
earlobes thickened conductive deafness from incudo
ebola virus disease
ebstein anomaly
ecp syndrome
ectodermal dysplasia absent dermatoglyphics
ectodermal dysplasia adrenal cyst
ectodermal dysplasia alopecia preaxial polydactyly
ectodermal dysplasia anhidrotic
ectodermal dysplasia arthrogryposis diabetes mellitus
ectodermal dysplasia bartalos type
ectodermal dysplasia berlin type
ectodermal dysplasia blindness
ectodermal dysplasia cataracts kyphoscoliosis
ectodermal dysplasia ectrodactyly macular dystrophy
ectodermal dysplasia hydrotic
ectodermal dysplasia hypohidrotic autosomal dominant
ectodermal dysplasia hypohidrotic autosomal recessive
ectodermal dysplasia hypohidrotic hypothyroidism ciliary dyskin
ectodermal dysplasia margarita type
ectodermal dysplasia mental retardation cns malformation
ectodermal dysplasia mental retardation syndactyly
ectodermal dysplasia neurosensory deafness
ectodermal dysplasia osteosclerosis
ectodermal dysplasia tricho odonto onychial type
ectodermic dysplasia anhidrotic cleft lip
ectopia lentis chorioretinal dystrophy myopia
ectopia lentis isolated
ectopic coarctation
ectopic ossification familial type
ectrodactyly cardiopathy dysmorphism
ectrodactyly cleft palate syndrome
ectrodactyly diaphragmatic hernia corpus callosum agenesis
ectrodactyly dominant form
ectrodactyly ectodermal dysplasia cleft lip palate
ectrodactyly ectrodermal dysplasia
ectrodactyly polydactyly
ectrodactyly recessive form
ectrodactyly spina bifida cardiopathy
ectropion inferior cleft lip and or palate
eczema thrombocytopenia immunodeficiency syndrome
edinburgh malformation syndrome
edwards patton dilly syndrome
eec syndrome
eec syndrome without cleft lift palate
eem syndrome
ehlers danlos syndrome classic type
ehlers danlos syndrome hypermobile type
ehlers danlos syndrome type 1
ehlers danlos syndrome type 2
ehlers danlos syndrome type 3
ehlers danlos syndrome type 4 autosomal dominant
ehlers danlos syndrome type 6
ehlers danlos syndrome type 7a
ehlers danlos syndrome type 7b
ehlers danlos syndrome type 7c
ehlers danlos syndrome vascular type
ehlers-danlos syndrome arthrochalasic type
ehlers-danlos syndrome dermatosparaxis type
ehlers-danlos syndrome kyphoscoliotic type
ehrlichiosis
eisenmenger complex
elejalde syndrome
elliott ludman teebi syndrome
elliptocytosis
ellis van creveld syndrome
ellis yale winter syndrome
emery dreifuss muscular dystrophy dominant type
emery dreifuss muscular dystrophy X linked
emery nelson syndrome
emphysema-penoscrotal web-deafness-mental retardation
enamel hypoplasia cataract hydrocephaly
enamel renal syndrome
encephalo cranio cutaneous lipomatosis
encephalocele anterior
encephalocele frontal
encephalopathy basal ganglia calcification
encephalopathy intracerebral calcification retinal degeneration
encephalopathy progressive optic atrophy
encephalopathy subacute spongiform gerstmann-straussler type
encephalophathy recurrent of childhood
Enchondromatosis
enchondromatosis dwarfism deafness
endodermal sinus tumor
endomyocardial fibroelastosis
endosteal hyperostosis worth type
eng strom syndrome
engelhard yatziv syndrome
enolase deficiency
enolase type 1deficiency
enolase type 2 deficiency
enolase type 3 deficiency
enolase type 4 deficiency
enterovirus antenatal infection
envenomization by bothrops lanceolatus
envenomization by the martinique lancehead viper
eosinophilic cellulitis
eosinophilic gastroenteritis
eosinophilic granuloma
eosinophilic idiopathic chronic pneumopathy
ependymoma
epidemic hemorragic fever
epidermal nevus vitamin d resistant rickets
epidermolysa bullosa simplex and limb girdle muscular dystrophy
epidermolysis bullosa dermolytic
epidermolysis bullosa dystrophica bart type
epidermolysis bullosa dystrophica dominant type
epidermolysis bullosa dystrophica hallopeau siemens
epidermolysis bullosa generalized atrophic benign
epidermolysis bullosa herpetiformis Dowling-Meara type
epidermolysis bullosa intraepidermic
epidermolysis bullosa junctional
epidermolysis bullosa junctional with pyloric atresia
epidermolysis bullosa of hands and feet
epidermolysis bullosa pretibial
epidermolysis bullosa simplex anodontia hair nail disorders
epidermolysis bullosa simplex koebner type
epidermolysis bullosa simplex ogna type
epidermolytic hyperkeratosis
epidermolytic palmoplantar keratoderma vorner type
epilepsy benign neonatal
epilepsy benign neonatal dominant form
epilepsy benign neonatal recessive form
epilepsy demantia amelogenesis imperfecta
epilepsy juvenile absence
epilepsy mental deterioration finnish type
epilepsy microcephaly skeletal dysplasia
epilepsy occipital calcifications
epilepsy partial familial
epilepsy progressive myoclonic type 1
epilepsy progressive myoclonic type 2
epilepsy telangiectasia
epilepsy with myoclono-astatic crisis
epilepsy, nocturnal frontal lobe type
epimetaphyseal dysplasia cataract
epimetaphyseal skeletal dysplasia
epiphyseal dysplasia dysmorphism camptodactyly
epiphyseal dysplasia hearing loss dysmorphism
epiphyseal dysplasia microcephaly nystagmus
epiphyseal dysplasia multiple
epiphyseal dysplasia multiple dominant type
epiphyseal dysplasia multiple early onest diabetes mellitus
epiphyseal dysplasia multiple myopia conductive deafness
epiphyseal stippling syndrome osteoclastic hyperplasia
epstein barr virus mononucleosis
epstein syndrome
erdheim disease
eronen somer gustafsson syndrome
erosive pustular dermatosis of the scalp
erythermalgia
erythroderma desquamativa of leiner
erythroderma lethal congenital
erythrokeratodermia ataxia
erythrokeratodermia variabilis mendes da costa type
escher hirt syndrome
escobar syndrome
esophageal atresia coloboma talipes
esthesioneuroblastoma
ethylmalonic aciduria
euhidrotic ectodermal dysplasia
eunuchoidism familial
evans syndrome
ewing sarcoma
exencephaly
exner syndrome
exomphalos macroglossia gigantism syndrome
exostoses anetodermia brachydactyly type e
exostoses multiple
exostoses multiple type 1
exostoses multiple type 2
exostoses multiple type 3
exstrophy of the bladder-epispadias
exstrophy of the bladder-epispadias complex
exsudative retinopathy familial
exsudative retinopathy familial autosomal dominant
exsudative retinopathy familial autosomal recessive
exsudative retinopathy familial x linked recessive
extensor tendons of finger anomalies
extrahepatic biliary atresia
extrasystoles short stature hyperpigmentation microcephaly
eye defects arachnodactyly cardiopathy
eyebrows and eyelashes absence mental retardation
eyebrows duplication syndactyly
eyelashes long mental retardation
Eymerynopathy
-------------------------------------------
-F-
fabry disease
faces syndrome
facial asymetry temporal seizures
facial cleft microtia asternia
facial clefting corpus callosum agenesis
facial dysmorphism macrocephaly myopia dandy walker
facial dysmorphism shawl scrotum joint laxity syndrome
facial ectodermal dysplasia
facial paresis partial unilateral
facies unusual arthrogryposis advanced skeletal maturation
facio digito genital syndrome recessive form
facio skeletal genital syndrome rippberger type
facio thoraco genital syndrome
faciocardiomelic dysplasia lethal
faciocardiorenal syndrome
faciodigitogenital syndrome
faciooculoacousticorenal syndrome
facioscapulohumeral muscular dystrophy
faciothoracoskeletal syndrome
factor 10 deficiency
factor 11 deficiency
factor 12 deficiency
factor 13 deficiency
factor 2 deficiency
factor 5 deficiency
factor 7 deficiency
factor 8 deficiency
factor 9 deficiency
fahr syndrome
fallot complex mental growth retardation
familal cholemia
familial amniotic bands
familial amyloid polyneuropathy
familial aortic dissection
familial band heterotopia
familial benign hypercalcemia
familial benign hypercalcemia type 1
familial benign hypercalcemia type 2
familial benign hypercalcemia type 3
familial combined hyperlipidemia
familial conotruncal cardiopathy
familial dysautonomia
familial glucocorticoid deficiency
familial hypertension
familial hypopituitarism
familial intestinal polyatresia syndrome
familial nasal acilia
familial non-immune hyperthyroidism
familial opposable triphalangeal thumbs duplication of the
familial partial epilepsy with variable focus
familial porencephaly
familial supernumerary nipples
familial symmetric lipomatosis
familial temporal epilepsy
familial thyroglossal duct cyst
familial variable immunodeficiency
familial veinous malformations
familial ventricular tachycardia
familial visceral myopathy
famililal adenomatous polyposis
fanconi anemia
fanconi anemia type 1
fanconi anemia type 2
fanconi anemia type 3
fanconi bickel syndrome
fanconi ichthyosis dysmorphism
fanconi like syndrome
fanconi pancytopenia
fanconi pancytopenia type 1
fanconi pancytopenia type 2
fanconi pancytopenia type 3
fanconi syndrome renal with nephrocalcinosis and renal stones
fara chlupackova syndrome
farber lipogranulomatosis
fas deficiency
faulk epstein jones syndrome
faye petersen ward carey syndrome
fechtner syndrome
feigenbaum bergeron richardson syndrome
feigenbaum bergeron syndrome
feingold syndrome
feingold trainer syndrome
female pseudohermaphrodism
female pseudohermaphrodism genuardi type
femoral facial syndrome
femur bifid monodactylous ectrodactyly
femur fibula ulna syndrome
fenton wilkinson toselano syndrome
ferlini ragno calzolari syndrome
fernhoff blackston oakley syndrome
ferrocalcinosis cerebro vascular
fetal acitretin syndrome
fetal akinesia sequence
fetal akinesia syndrome x linked
fetal alcohol syndrome
fetal aminopterin syndrome
fetal and neonatal alloimmune thrombocytopenia
fetal antihypertensive drugs syndrome
fetal brain disruption sequence
fetal cocaine syndrome
fetal cytomegalovirus syndrome
fetal diethylstilbestrol syndrome
fetal edema
fetal enterovirus syndrome
fetal face syndrome
fetal hydantoin syndrome
fetal indomethacin syndrome
fetal iodine syndrome
fetal left ventricular aneurysm
fetal methimazole syndrome
fetal methyl mercury syndrome
fetal minoxidil syndrome
fetal parainfluenza virus type 3 syndrome
fetal parvovirus syndrome
fetal phenothiazine syndrome
fetal prostaglandin syndrome
fetal rubella syndrome
fetal thalidomide syndrome
fetal trimethadione syndrome
fetal valproic syndrome
fetal varicella syndrome
fetal warfarin syndrome
fg syndrome
fibrinogen deficiency
fibrochondrogenesis
fibrodysplasia ossificans progressiva
fibrofolliculomas with trichodiscomas and acrochordons
fibromatosis gingival hepatosplenomegaly other anomalies
fibromatosis gingival hypertrichosis
fibromatosis gingival progressive deafness
fibromatosis juvenile hyaline
fibromatosis multiple non ossifying
fibromuscular dysplasia of arteries
fibrosarcoma
fibrous dysplasia of bone
fibula aplasia complex brachydactyly
fibula ulna duplication tibia radius absence
fibular aplasia ectrodactyly
fibular hypoplasia femoral bowing oligodactyly
fibular hypoplasia scapulo pelvic dysplasia absent 5th fingers
fibulo ulnar hypoplasia renal anomalies
fiessinger-leroy-reiter syndrome
filariasis
filippi syndrome
fine lubinsky syndrome
fingerprints absence syndactyly milia
fingers absence
finnish congenital nephrosis
finnish type amyloidosis
finucane kurtz scott syndrome
fish-eye disease
fistulous vegetative verrucous hydradenoma
fitzsimmons guilbert syndrome
fitzsimmons mclachlan gilbert syndrome
fitzsimmons walson mellor syndrome
flat face microstomia ear anomaly
floating harbor syndrome
flotch syndrome
flynn aird syndrome
focal alopecia congenital megalencephaly
focal dermal hypoplasia
focal dystonia
foix chavany marie syndrome
follicular atrophoderma basal cell carcinoma
follicular hamartoma alopecia cystic fibrosis
follicular ichtyosis
fontaine farriaux blanckaert syndrome
fop
forney robinson pascoe syndrome
fountain syndrome
foveal hypoplasia presenile cataract
fowler christmas chapele syndrome
fra x syndrome
fragile x syndrome
fragile x syndrome type 1
fragile x syndrome type 2
fragile x syndrome type 3
fragoso cid garcia hernandez syndrome
franceschetti klein syndrome
francheschini vardeu guala syndrome
francois dyscephalic syndrome
franek bocker kahlen syndrome
fraser jequier chen syndrome
fraser like syndrome
fraser syndrome
frasier syndrome
fraxa syndrome
fraxe syndrome
fraxf syndrome
free sialic acid storage disease
freeman sheldon syndrome
freiberg's disease
freire maia odontotrichomelic syndrome
freire maia pinheiro opitz syndrome
frenkel russe syndrome
frias syndrome
fried goldberg mundel syndrome
friedel heid grosshans syndrome
friedman goodman syndrome
friedreich ataxia
friedreich ataxia congenital glaucoma
fronto nasal malformation cloacal exstrophy
frontofacionasal dysostosis
frontofacionasal dysplasia type algazali
frontometaphyseal dysplasia
frontonasal dysplasia
frontonasal dysplasia acromelic
frontonasal dysplasia klippel feil syndrome
frontonasal dysplasia phocomelic upper limbs
frontotemporal lobe dementia
froster huch syndrome
froster iskenius waterson syndrome
fructose intolerance
fructose-1,6-biphosphatase deficiency
fructose-1-phosphate aldolase hereditary deficiency
fructosemia hereditary
fructosuria
frydman cohen ashenazi syndrome
frydman cohen karmon syndrome
fryer syndrome
fryns dereymacker haegeman syndrome
fryns fabry remans syndrome
fryns hofkens fabry syndrome
fryns smeets thiry syndrome
fryns syndrome
fucosidosis
fuhrmann rieger de sousa syndrome
fukuda miyanomae nakata syndrome
fumarase deficiency
fumaric aciduria
fumarylacetoacetase deficiency
functioning pancreatic endocrine tumor
fuqua berkovitz syndrome
furlong kurczynski hennessy syndrome
furukawa takagi nakao syndrome
Furunculous myiasis
fused mandibular incisives
-------------------------------------------
-G-
g syndrome
g6pd deficiency
gaba transaminase deficiency
galactocerebrosidase deficiency
galactokinase deficiency
galactosamine 6 sulfatase deficiency
galactose-1-phosphate uridyltransferase deficiency
galactosemia
galactosialidosis
galloway syndrome
gamborg nielsen syndrome
game friedman paradice syndrome
gamma aminobutyric acid transaminase deficiency
gamma-cystathionase deficiency
Gamma-sarcoglycanopathy
gamstorp episodic aynamy
gangliosidosis gm1
gangliosidosis gm1 type 1
gangliosidosis gm1 type 2
gangliosidosis gm1 type 3
gapo syndrome
garcia torres guarner syndrome
gardner morrisson abbot syndrome
gardner silengo wachtel syndrome
gardner syndrome
garret tripp syndrome
gastrinoma
gastritis, familial giant hypertrophic
gastro-enteropancreatic neuroendocrine tumor
gastrocutaneous syndrome
gastroschisis
gaucher disease
gaucher disease type 1
gaucher disease type 2
gaucher disease type 3
gaucher ichthyosis restrictive dermopathy
gaucher like disease
gay feinmesser cohen syndrome
geen sandford davison syndrome
geleophysic dwarfism
gelineau disease
gemignani syndrome de
gemss syndrome
generalized resistance to thyroid hormone
genes syndrome
genetic reflex epilepsy
genital anomaly cardiomyopathy
genitopalatocardiac syndrome
gerhardt syndrome
german syndrome
geroderma osteodysplastica
gershinibaruch leibo syndrome
gerstmann-straussler-scheinker syndrome
ghosal syndrome
ghose sachdev kumar syndrome
giant cell arteritis
giant pigmented hairy nevus
giant platelet syndrome
gigantism advanced bone age hoarse cry
gigantism partial nevi hemihypertrophy macrocephaly
gilbert syndrome
gilles de la tourette disease
gillespie syndrome
gingival fibromatosis dominant
gingival fibromatosis facial dysmorphism
gingival hypertrophy corneal dystrophy
girate atrophy of choroid and retina
gitelman syndrome
glanzmann thrombasthenia
glass chapman hockley syndrome de
glastre cochat bouvier syndrome
glaucoma (type 1c)
glaucoma congenital
glaucoma ecopia microspherophakia stiff joints short stature
glaucoma hereditary
glaucoma hereditary adult (type 1a)
glaucoma hereditary juvenile (type 1b)
glaucoma iridogoniodysgenesia
glaucoma primary infantile (type 3a)
glaucoma primary infantile (type 3b)
glaucoma sleep apnea
glioblastoma
glomerulonephritis sparse hair telangiectases
gloomy face syndrome
glossopalatine ankylosis cataracts digital anomalies
glossopalatine ankylosis micrognathia ear anomalies
glucagonoma
glucocerebrosidase deficiency
glucocerebrosidase deficiency type 1
glucocerebrosidase deficiency type 2
glucocerebrosidase deficiency type 3
glucocorticoid resistance
glucocorticoid sensitive hypertension
glucose-6-phosphatase deficiency
glucose-6-phosphate translocase deficiency
glucose-6-phosphate-dehydrogenase deficiency
glucosephosphate isomerase deficiency
glucosidase acid 1,4 alpha deficiency
glut2 deficiency
glutamate decarboxylase deficiency
glutamate-aspartate transport defect
glutaricacidemia
glutaricacidemia type 1
glutaricacidemia type 2a
glutaricacidemia type 2b
glutaricacidemia type 2c
glutaricaciduria
glutaricaciduria type 1
glutaricaciduria type 2a
glutaricaciduria type 2b
glutaricaciduria type 2c
glutaryl coa dehydrogenase deficiency
glutathione synthetase deficiency
gluten intolerance
glyceraldehyde-3-phosphate dehydrogenase deficiency
glycerol kinase deficiency
glycine synthase deficiency
glycinemia ketotic
glycinemia ketotic type 1
glycinemia ketotic type 2
glycogen storage disease type 1
glycogen storage disease type 1a
glycogen storage disease type 1b
glycogen storage disease type 1c
glycogen storage disease type 1d
glycogen storage disease type 2
glycogen storage disease type 3
glycogen storage disease type 4
glycogen storage disease type 5
glycogen storage disease type 6 due to phosphorylase deficiency
glycogen storage disease type 6 due to phosphorylase kinase deficiency
glycogen storage disease type 7
glycogen storage disease type 9
glycogenose type 0
gm2 gangliosidosis (0 variant)
gm2 gangliosidosis (b, b1,ab variant)
gms syndrome
goiter deafness syndrome
golabi rosen syndrome
goldberg bull syndrome
goldberg syndrome
goldblatt behari syndrome
goldblatt carman sprague syndrome
goldblatt viljoen syndrome
goldblatt wallis syndrome
goldblatt wallis zieff syndrome
goldenhar syndrome
goldskag cooks hertz syndrome
goldstein hutt syndrome
gollop coates syndrome
gollop syndrome
gollop wolfgang complex
goltz syndrome
gombo syndrome
gonadal dysgenesis mixed
gonadal dysgenesis xx type
gonadal dysgenesis xy female type
gonadal dysgenesis xy type associated anomalies
gonadotropin deficiency familial
gonadotropin independant familial sexual precocity
goniodysgenesis mental retardation short stature
gonococcal conjonctivitis
gonodal dysgenesis xx type deafness
gonzales del angel syndrome
goodman camptodactyly
goodman syndrome de
goodpasture pneumorenal syndrome
goodpasture syndrome
gordon hyperkaliemia-hypertension syndrome
gordon syndrome
Gorham-Stout disease
gorlin bushkell jensen syndrome
gorlin chaudry moss syndrome de
gorlin goltz syndrome
gorlin syndrome
gorlin syndrome
gougerot sjogren syndrome
graham boyle troxell syndrome
grand kaine fulling syndrome
grant syndrome
granulomatous allergic angiitis
granulomatous disease chronic
gray platelet syndrome
great vessels transposition
grebe chondrodysplasia
greig syndrome
griscelli disease
grix blankenship peterson syndrome
groll hirschowitz syndrome
grosse syndrome
growth deficiency brachydactyly unusual facies
growth mental deficiency syndrome of myhre
growth retardation alopecia pseudoanodontia optic atrophy
growth retardation hydrocephaly lung hypoplasia
growth retardation mental retardation phalangeal hypoplasia
grubben de cock borghgraef syndrome
gtp cyclohydrolase deficiency
guanidinoacetate methyltransferase deficiency
guibaud vainsel syndrome
guillain barre syndrome
guizar vasquez luengas syndrome
guizar vasquez sanchez manzano syndrome
gunal seber basaran syndrome
gupta patton syndrome
gurrieri sammito bellussi syndrome
gusher syndrome
-------------------------------------------
-H-
haas chir robinson syndrome
haemorragic proctocolitis
hagemann factor deficiency
hagemoser weinstein bresnick syndrome
hair defect photosensitivity mental retardation
hairy throat syndrome
hajdu cheney syndrome
hal berg rudolph syndrome
halal setton wang syndrome
halal syndrome
hall riggs mental retardation syndrome
hallermam streiff like syndrome
hallermann streiff francois syndrome
hallervorden spatz disease
hallux varus and preaxial polysyndactyly
hamanishi ueba tsuji
hamann zanki schimrigk syndrome
hamano tsukamoto syndrome
hamartoma sebaceus of jadassohn
hand and foot deformity flat facies
hand foot uterus syndrome
hanot syndrome
hans shuller christian disease
hantavirosis
hantavirus fever
hapnes boman skeie syndrome
hard skin syndrome parana type
HARD syndrome
harding ataxia
harrod doman keele syndrome
harrod syndrome
hartnup syndrome
hartsfield bixler demyer syndrome
hashimoto pritzker syndrome
hashimoto struma
haspeslagh fryns muelenaere syndrome
hawkinsinuria
hay wells syndrome dominant form
hay wells syndrome recessive type
hearing loss insensitivity to aldosterone
heart block progressive familial
heart defect round face congenital retarded development
heart defect tongue hamartoma polysyndactyly
heart defects limb shortening
heart hand syndrome spanish type
heart hand syndrome type 2
heart hypertrophy hereditary
heart situs anomaly
heart tumor of the adult
heart tumor of the child
hec syndrome
hecht beals syndrome
hecht scott syndrome
heckenlively syndrome
heide syndrome
helmerhorst heaton crossen syndrome
hemangioma-thrombocytopenia syndrome
hemangiomas cavernous of face supraumbilical midline raphe
hemangiopericytoma
hemeralopia congenital essential
hemeralopia familial
hemi 3 syndrome
hemifacial atrophy agenesis of the caudate nucleus
hemifacial atrophy progressive
hemifacial hyperplasia strabismus
hemifacial microsomia
hemifacial microsomia macrodactyly
hemihypertrophy
hemihypertrophy intestinal web corneal opacity
hemimegalencephaly
hemiplegic migraine familial
hemochromatosis familial
hemoglobin c disease
hemoglobin e disease
hemolytic anemia lethal genital anomalies
hemolytic uremic syndrome
hemophilia
hemophilia a
hemophilia b
hemorragic fever with renal syndrome
hemorrhagiparous thrombocytic dystrophy
hennekam beemer syndrome
hennekam koss de geest syndrome
hennekam syndrome
hennekam van der horst syndrome
henoch-schoenlein purpura
heparane sulfamidase deficiency
heparin-induced thrombopenia
hepatic cystic hamartoma
hepatic fibrosis renal cysts mental retardation
hepatic venoocclusive disease
hepatoblastoma
hepatolenticular degeneration
hepatorenal tyrosinemia
hereditary coproporphyria
hereditary methemoglobinemia recessive
Hereditary myopathy with intranuclear filamentous inclusions
hereditary nodular heterotopia
hereditary primary fanconi disease
hereditary resistance to anti vitamin K
hereditary sensory and autonomic neuropathy 3
hereditary xerocytosis
heredopathia atactica polyneuritiformis
herlitz pearson epidermolysis bullosa junctional
hernandez aguire negrete syndrome
hernandez fragoso syndrome
herpes virus antenatal infection
herpetic embryopathy
herpetic encephalopathy
herrmann opitz arthrogryposis syndrome
herrmann opitz craniosynostosis
hersh podruch weisskopk syndrome
Heterotaxia
heterotaxia autosomal dominant type
heterotaxy visceral x linked
heterotaxy with polysplenia or asplenia
hexosaminidase a deficiency
hexosaminidases a and b deficiency
hhh syndrome
hidradenitis suppurativa familial
hidrotic ectodermal dysplasia halal type
hidrotic ectodermal dysplasia type christianson fourie
high -molecular-weight kininogen deficiency
high scapula
hillig syndrome
hing torack dowston syndrome
hinson-pepys disease
hip dysplasia beukes type
hipo syndrome
hirschsprung disease
hirschsprung disease deafness polydactyly
hirschsprung disease ganglioneuroblastoma
hirschsprung disease polydactyly heart disease
hirschsprung disease type 1
hirschsprung disease type 2
hirschsprung disease type 3
hirschsprung disease type d brachydactyly
hirschsprung disease with pigmentary anomaly
hirschsprung microcephaly cleft palate
hirschsprung nail hypoplasia dysmorphism
hirsutism congenital gingival hyperplasia
hirsutism skeletal dysplasia mental retardation
his bundle tachycardia
histidase deficiency
histidinemia
histidinuria renal tubular defect
histiocytosis x
Histoplasmosis
hittner hirsch kreh syndrome
hm syndrome
hmc syndrome
hmg coa synthetase deficiency
hnpcc
ho kaufman podos syndrome
hodgkin disease
hodgkin lymphoma
hoepffner dreyer reimers syndrome
holmes benacerraf syndrome
holmes borden syndrome
holmes collins syndrome
holmes gang syndrome
holoacardius amorphus
holocarboxylase synthetase deficiency
holoprosencephaly
holoprosencephaly caudal dysgenesis
holoprosencephaly craniosynostosis
holoprosencephaly deletion 2p
holoprosencephaly ectrodactyly cleft lip palate
holoprosencephaly postaxial polydactyly
holoprosencephaly radial heart renal anomalies
holt oram syndrome
holzgreve wagner rehder syndrome
homocarnosinase deficiency
homocarnosinosis
homocystinuria due to cystathionine beta synthase deficiency
homocystinuria due to defect in methylation (cbl e)
homocystinuria due to defect in methylation (cbl g)
homocystinuria due to defect in methylation (mthfr deficiency)
hoon hall syndrome
hordnes engebretsen knudtson syndrome
horn kolb syndrome
hornova dlurosova syndrome
horseshoe kidney
horton disease
houlston ironton temple syndrome de
howard young syndrome
Howell-Evans syndrome
hoyeraal hreidarsson syndrome
hoyeraal syndrome
humero spinal dysostosis congenital heart disease
humeroradial synostosis
humeroradioulnar synostosis
humerus trochlea aplasia of
hunter carpenter mc donald syndrome
hunter jurenka thompson syndrome
hunter macpherson syndrome
hunter mcalpine syndrome
hunter mcdonald syndrome
hunter rudd hoffmann syndrome
hunter syndrome
hunter thomson reed syndrome
huntington chorea
huntington disease
Huriez scleroatrophic syndrome
hurler syndrome
hurst hallam hockey syndrome
hutchinson gilford progeria syndrome
hutteroth spranger syndrome
hyalinosis systemic short stature
hydantoin antenatal infection
Hydatidosis
hyde forster mccarthy berry syndrome
hydranencephaly
hydrocephalus autosomal recessive
hydrocephalus blue sclera nephropathy
hydrocephalus cataract microphthalmos
hydrocephalus cleft palate joint contractures
hydrocephalus costovertebral dysplasia sprengel anomaly
hydrocephalus craniosynostosis bifid nose
hydrocephalus endocardial fibroelastosis cataract
hydrocephalus growth retardation skeletal anomalies
hydrocephalus obesity hypogonadism
hydrocephalus skeletal anomalies
hydrocephalus x linked
hydrocephaly corpus callosum agenesis diaphragmatic hernia
hydrocephaly low insertion umbilicus
hydrocephaly tall stature joint laxity
hydrolethalus syndrome
hydronephrosis congenital
hydronephrosis peculiar facial expression
hydrops ectrodactyly syndactyly
hydrops fetalis
hydrops fetalis anemia immune disorder absent thumb
hydrops fetalis idiopathic
hydroxymethylglutaricaciduria
hygroma cervical
Hymenolepiasis
hyper igd syndrome
hyper igm syndrome x linked
hyperaldosteronism familial type 1
hyperaldosteronism familial type 2
hyperargininemia
hyperbilirubinemia rotor type
hyperbilirubinemia transient familial neonatal
hyperbilirubinemia type 1
hyperbilirubinemia type 2
hypercalciuria idiopathic
hypercalciuria macular coloboma
hypercholesterolemia due to arg3500 mutation of apo b100
hypercholesterolemia due to ldl receptor deficiency
hypercholesterolemia familial
hyperchylomicronemia, familial
hyperekplexia
hypereosinophilic syndrome
hyperferritinemia, hereditary, with congenital cataracts
hyperglycerolemia
hyperglycinemia isolated nonketotic
hyperglycinemia isolated nonketotic type 1
hyperglycinemia isolated nonketotic type 2
hypergonadotropic ovarian failure, familial or sporadic
hyperimidodipeptiduria
hyperimmunoglobinemia d with recurrent fever
hyperimmunoglobulin e - reccurrent infection syndrome
hyperimmunoglobulinemia d with periodic fever
hyperimmunoglobulinemie e
hyperinsulinism familial with pancreatic nesidioblastosis
hyperkaliemic periodic paralysis type 2
Hyperkeratosis lenticularis perstans of Flegel
hyperkeratosis palmoplantar localized acanthokeratolytic
hyperkeratosis palmoplantar localized epidermolytic
hyperkeratosis palmoplantar with palmar crease hyperkeratosis
hyperlipoproteinemia type 1 and 5
hyperlipoproteinemia type 3
hyperlipoproteinemia type 4
hyperlysinemia
hyperornithinemia
hyperornithinemia-hyperammonemia-homocitrullinuria
hyperostosid corticalis deformans juvenilis
hyperostosis cortical infantile
hyperostosis corticalis generalisata
hyperostosis corticalis generalisata
hyperostosis generalisata with striations
hyperoxaluria
hyperoxaluria type 1
hyperoxaluria type 2
hyperparathyroidism familial primary
hyperparathyroidism neonatal severe primary
hyperphalangism dysmorphy bronchomalacia
hyperphenylalalinemia due to dihydropteridine reductase deficiency
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
hyperphenylalaninemia due to dehydratase deficiency
hyperphenylalaninemia due to gtp cyclohydrolase deficiency
hyperphenylalaninemic embryopathy
hyperpipecolatemia
hyperprolinemia
hyperprolinemia type 1
hyperprolinemia type 2
hypertelorism and tetralogy of fallot
hypertelorism hypospadias polysyndactyly syndrome
hypertelorism hypospadias syndrome
hypertelorism microtia facial clefting syndrome
hypertension essential
hypertensive hyperkalemia familial
hypertensive hypokalemia familial
hypertensive hypokalemia recessive
hyperthermia induced defects
hyperthermia of anesthesia
hyperthyroidism due to mutations in tsh receptor
hypertrichosis atrophic skin ectropion macrostomia
hypertrichosis brachydactyly obesity and mental retardation
hypertrichosis congenital generalized x linked
hypertrichosis cubiti short stature
hypertrichosis lanuginosa congenita
hypertrichosis retinopathy dysmorphism
hypertrichosis universalis congenita ambras type
hypertrichotic osteochondrodysplasia
hypertrophic hemangiectasia
hypertrophic osteoarthropathy primary or idiopathic
hypertropic neuropathy of dejerine sottas
hypertryptophanemia
hypo-alphalipoproteinemia primary
hypoadrenocorticism hypoparathyroidism moniliasis
hypoaldosteronism
hypobetalipoproteinaemia ataxia hearing loss
hypobetalipoproteinemia familial
hypocalcemia autosomal dominant
hypocalciuric hypercalcemia familial
hypocalciuric hypercalcemia familial type 1
hypocalciuric hypercalcemia familial type 2
hypocalciuric hypercalcemia familial type 3
hypochondrogenesis
hypochondroplasia
Hypodermyasis
hypodonadotropic hypogonadism alopecia
hypodontia dysplasia of nails
hypodontia of incisors and premolars
hypofibrinogenemia, familial
hypoglycemia with deficiency of glycogen synthetase in the liver
hypogonadism cardiomyopathy
hypogonadism cataract syndrome
hypogonadism hypogonadotropic due to mutations in the gonadotropin-releasing
hormone receptor
hypogonadism male mental retardation skeletal anomalies
hypogonadism mitral valve prolapse mental retardation
hypogonadism primary partial alopecia
hypogonadism retinitis pigmentosa
hypogonadism, isolated, hypogonadotropic
hypogonadotropic hypogonadism anosmia
hypogonadotropic hypogonadism anosmia x linked
hypogonadotropic hypogonadism syndactyly
hypogonadotropic hypogonadism without anosmia x linked
hypokalemic alkalosis with hypercalciuria
hypokaliemic periodic paralysis type 1
hypokinetic cardiomyopathy familial dilated
hypomagnesemia primary
hypomandibular faciocranial dysostosis
hypomelanosis of ito
hypomelia mullerian duct anomalies
hypomyelination neuropathy
hypoparathyroidism familial isolated
hypoparathyroidism nerve deafness nephrosis
hypoparathyroidism short stature
hypoparathyroidism short stature mental retardation seizures
hypoparathyroidism x linked
hypophosphatasia infantile
hypophosphatemia x linked
hypopigmentation oculocerebral syndrome cross type
hypopituitarism
hypopituitarism dwarfism skeletal anomalies
hypopituitarism micropenis cleft lip palate
hypopituitarism microphthalmia
hypopituitarism postaxial polydactyly
hypoplastic left heart syndrome
hypoplastic right heart microcephaly
hypoplastic thumb mullerian aplasia
hypoplastic thumbs hydranencephaly
hypoplastic tibiae post axial polydactyly
hypoproconvertinemia
hypoprothrombinemia
hyposmia nasal hypoplasia hypogonadism
hypospadias dysphagia syndrome
hypospadias familial
hypospadias mental retardation goldblatt type
hypotelorism cleft palate hypospadias
hypothalamic dysfunction
hypothalamic hamartoblastoma syndrome
hypothalamic hamartomas
hypothyroidism cleft palate
hypothyroidism dermoid cyst cleft palate
Hypothyroidism due to iodide transport defect
hypothyroidism postaxial polydactyly mental retardation
hypotonic sclerotic muscular dystrophy
hypotrichosis
hypotrichosis mental retardation lopes type
hypoxanthine guanine phosphoribosyltransferase deficiency
-------------------------------------------
-I-
i cell disease
ibids syndrome
icf syndrome
ichthyosiform erythroderma corneal involvement deafness
ichthyosis alopecia eclabion ectropion mental retardation
ichthyosis cheek eyebrow syndrome
ichthyosis congenita biliary atresia
ichthyosis congenita collodion fetus type
ichthyosis deafness mental retardation skeletal anomalies
ichthyosis exfoliativa
ichthyosis follicularis atrichia photophobia syndrome
ichthyosis harlequin type
ichthyosis hepatosplenomegaly cerebellar degeneration
ichthyosis male hypogonadism
ichthyosis mental retardation asymptomatic spasticity
ichthyosis mental retardation devriendt type
ichthyosis mental retardation dwarfism renal impairment
ichthyosis microphthalmos
ichthyosis tapered fingers midline groove up
ichthyosis x linked
ichtyosis and male hypogonadism
ichtyosis bullosa of siemens
ichtyosis linearis circumflexa
idaho syndrome
idiopathic congenital nystagmus dominant x linked
idiopathic diffuse interstitial fibrosis
idiopathic facial palsy
idiopathic nephrotic syndrome steroid resistant
idiopathic optic atrophy autosomal recessive
idiopathic orthostatic hypotension
idiopathic thrombocytopenic purpura
idiopathic torsion dystonia
idiopathic ventricular fibrillation
iduronate 2 sulfatase deficiency
ieshima koeda inagaki syndrome
ifap syndrome
iga selective deficiency of
igda syndrome
iida kannari syndrome
illum syndrome
ilyina amoashy grygory syndrome
imaizumi kuroki syndrome
immotile cilia syndrome due to defective radial spokes
immotile cilia syndrome due to excessively long cilia
immotile cilia syndrome kartagener type
immuno osseous dysplasia schimke type
immunodeficiency with short limb dwarfism
imperforate anus
imperforate oropharynx costo vetebral anomalies
impossible syndrome
impuberism and anovulation due to resistance to LH
incisors fused
inclusion body myopathy
inclusion body myositis ibm
incontinentia pigmenti
incontinentia pigmenti type 1
incontinentia pigmenti type 2
indomethacin antenatal infection
infant epilepsy with migrant focal crisis
infantile axonal neuropathy
infantile multisystem inflammatory disease
infantile myofibromatosis
infantile onset spinocerebellar ataxia
infantile recurrent chronic multifocal osteomyolitis
infantile spasms
infantile spasms broad thumbs
infantile spasms x linked
infantile striato thalamic degeneration
infundibulopelvic stenosis multicystic kidney
insentivity to pain with anhidrosis
insomnia familial fatal
instability mitotic non disjunction
insulin resistant acanthosis nigricans type a
insulin-resistance type b
insulin-resistant acanthosis nigricans, type a
insulinoma
interferon gamma receptor 1 deficiency
internal carotid agenesis
intestinal atresia multiple
intestinal lipodystrophy
intestinal malrotation facial anomalies familial type
intestinal pseudoobstruction chronic idiopathic
intracranial aneurysms multiple congenital anomalies
intracranial arterioveinous malformation
intracranial teratoma
intrathoracic kidney vertebral fusion
intrauterine growth retardation mandibular malar hypoplasia
ioan popa fryns syndrome
iodine antenatal infection
iridogoniodysgenesis dominant
iris colobomata cataract cardiopathy
iris dysplasia hypertelorism deafness
irons bhan syndrome
isaacs mertens syndrome
ischiadic hypoplasia renal dysfunction immunodeficiency
ischiopatellar dysplasia
isochromosome 12p syndrome
isochromosome 18p
isolated lissencephaly
Isosporosiasis
isotretinoin embryopathy
isovaleric acid coa dehydrogenase deficiency
isovaleric acidemia
isthmian coarctation
ito hypomelanosis
ivemark syndrome
ivic syndrome
-------------------------------------------
-J-
jabs houk bias syndrome
jackson barr syndrome
jackson weiss syndrome
jacobs syndrome
jacobsen syndrome
jadassohn lewandowsky syndrome
jaffe campanacci syndrome
jaffer beighton syndrome
jagell holmgren hofer syndrome
jalili syndrome
jancar syndrome
jankovic rivera syndrome
jansky bielschowsky disease
jarcho lewin syndrome
jejunal atresia
jensen syndrome
jequier kozlowski skeletal dysplasia
jervell lange nielsen syndrome
jeune syndrome
jeune syndrome situs inversus
job syndrome
johanson blizzard syndrome
johnson hall krous syndrome
johnson munson syndrome
johnson neuroectodermal syndrome
johnston aarons schelley syndrome
joint instability syndrome
jones hersh yusk syndrome
jones syndrome
jorgenson lenz syndrome
joubert boltshauser syndrome
joubert syndrome bilateral chorioretinal coloboma
juberg hayward syndrome
juberg marsidi syndrome
judge misch wright syndrome
jung wolff back stahl syndrome
juvenile ankylosing spondylarthritis
juvenile cataract cerebellar atrophy myopathy mental retardation
juvenile chronic arthritis
juvenile gastrointestinal polyposis
juvenile macular degeneration hypotrichosis
-------------------------------------------
-K-
kabuti make up syndrome
kalam hafeez syndrome
kaler garrity stern syndrome
kallin syndrome
kallmann syndrome
kallmann syndrome heart disease
kallmann syndrome type 1, X linked
kallmann syndrome type 2 dominant
kallmann syndrome type 3 recessive
kalyanraman syndrome
kantaputra gorlin syndrome
kaplan plauchu fitch syndrome
kaplowitz bodurtha syndrome
kaposiform hemangio-endothelioma
kapur toriello syndrome
karandikar maria kamble syndrome
karsch neugebauer syndrome
kartagener syndrome
kasabach-merritt syndrome
kashani strom utley syndrome
kasznica carlson coppedge syndrome
katsantoni papadakou lagoyanni syndrome
katz syndrome
kaufman mckusick syndrome
kaufman oculocerebrofacial syndrome
kawasaki disease
kawashima tsuji syndrome
kbg syndrome
kearns sayre syndrome
kennedy disease
kennerknecht sorgo oberhoffer syndrome
kennerknecht vogel syndrome
kenny caffey syndrome
kenny syndrome
keratitis ichthyosis deafness
keratitis, hereditary
keratoacanthoma familial
keratoconus posticus circumscriptus
keratoderma ainhumoid and mutilans
keratoderma hypotrichosis leukonychia
keratoderma palmoplantar deafness
keratoderma palmoplantar spastic paralysis
keratoderma palmoplantaris transgrediens
keratodermia palmoplantar periorificial
keratosis focal palmoplantar gingival
keratosis follicularis
keratosis follicularis dwarfism cerebral atrophy
keratosis follicularis spinula decalvans
keratosis palmoplantar periodontopathy
keratosis palmoplantaris adenocarcinoma of the colon
keratosis palmoplantaris oesophageal colon cancer
keratosis palmoplantaris papulosa
keratosis palmoplantaris periodontopathia
keratosis pilaris
keratosis pilaris atrophicans
kerion celsi
kersey syndrome
ketoaciduria mental deficiency ataxia deafness
khalifa graham syndrome
ki 1 cell lymphoma
KID syndrome
Kimura disease
king syndrome
kinsbourne syndrome
kleeblattschaedel syndrome
klein waardenburg syndrome
kleiner holmes syndrome
Klinefelter syndrome
klippel feil deformity conductive deafness absent vagina
klippel feil sequence
klippel feil syndrome
klippel feil syndrome dominant type
klippel feil syndrome recessive type
klippel trenaunay weber syndrome
klumpke paralysis
kniest dysplasia
kniest like dysplasia lethal
knobloch layer syndrome
knuckle pods leuconychia sensorineural deafness
kobberling dunnigan syndrome
kocher debre semelaigne syndrome
kohler's disease
kohlschutter tonz syndrome
kohn elrayyes makadmah syndrome
kok disease
konigsmark knox hussels syndrome
koone rizzo elias syndrome
kopysc barczyk krol syndrome
korula wilson salomon syndrome
kostmann syndrome
kosztolanyi syndrome
kotzot richter syndrome
koussef nichols syndrome
kousseff syndrome
kowarski syndrome
kozlowski brown hardwick syndrome
kozlowski celermajer syndrome
kozlowski massen syndrome
kozlowski ouvrier syndrome
kozlowski rafinski klicharska syndrome
kozlowski tsuruta syndrome
kozlowski tsuruta taki syndrome
kozlowski warren fisher syndrome
kozlowski-krajewska syndrome
krabbe disease
krasnow qazi syndrome
krauss herman holmes syndrome
krieble bixler syndrome
kudo tamura fuse syndrome
kufs disease
kugelberg welander syndrome
kumar levick syndrome
kunze riehm syndrome
kurczynski casperson syndrome
kuskokwim disease
kuster majewski hammerstein syndrome
kuster syndrome
kuzniecky syndrome
kyphosis brachyphalangy optic atrophy
-------------------------------------------
-L-
l 2-hydroxyglutaricaciduria
laband syndrome
lachiewicz sibley syndrome
lack of subcutaneous tissue arthritis skeletal dysplasia
lacrimoauriculodentodigital syndrome
lactate dehydrogenase deficiency
lactate dehydrogenase type a deficiency
lactate dehydrogenase type b deficiency
lactate dehydrogenase type c deficiency
lactic acidosis congenital infantile
ladd syndrome
ladda zonana ramer syndrome
lafora disease
lagophthalmia cleft lip palate
LAL
lambdoid synostosis familial
lambert syndrome
lamellar ichtyosis
landau kleffner syndrome
Landau-Kleffner syndrome
landing disease
landouzy dejerine myopathy
landy donnai syndrome
langer giedion syndrome
langer nishino yamaguchi syndrome
langer sadino type achondrogenesis
langerhans cell granulomatosis
langerhans cell histiocytosis
laplane fontaine lagardere syndrome
laron syndrome
larsen like osseous dysplasia dwarfism
larsen like osseous dysplasia dwarfism
larsen like syndrome lethal type
larsen syndrome
larsen syndrome craniosynostosis
larsen syndrome dominant type
larsen syndrome recessive type
laryngeal abductor paralysis
laryngeal abductor paralysis mental retardation
laryngeal and ocular granulation in indian children
laryngeal cleft
laryngeal web congenital heart disease short stature
laryngo onycho cutaneous syndrome
laryngocele
laryngomalacia dominant congenital
laryngotracheoesophageal cleft pulmonary hypoplasia
larynx atresia
Lassueur-Graham-Little syndrome
late onset dominant cone dystrophy
lateral body wall defect
laterality defect
laterality defects dominant
lattice corneal dystrophy type 2
Launois-Bensaude adenolipomatosis
laurence moon syndrome
laurence prosser rocker syndrome
laurin sandrow syndrome
laxova brown hogan syndrome
lbwd syndrome
lcat deficiency
lchad deficiency
le marec bracq picaud syndrome
le merrer syndrome
leao ribeiro da silva syndrome
learman syndrome
leber amaurosis congenita
leber amaurosis congenita type 1
leber amaurosis congenita type 2
leber hereditary optic neuropathy
leber miliary aneurysm
lecithine-cholesterol acyltransferase deficiency (lcat)
lee root fenske syndrome
left ventricule-aorta tunnel
leg absence deformity cataract
legg calve perthes disease
legionellosis
lehman syndrome
leichtman wood rohn syndrome
leifer lai buyse syndrome
leigh disease
leiomyomatose diffuse with alport syndrome
leiomyomatosis familial
leiomyomatosis of oesophagus cataract hematuria
leipala kaitila syndrome
leishmaniasis
leisti hollister rimoin syndrome
lennox gastaut syndrome
lenz majewski hyperostotic dwarfism
lenz microphtalmia
leonard hughes syndrome
leopard syndrome
leprechaunism
leprosy
leptospirosis
leri pleonosteosis
leri weil syndrome
lesch nyhan syndrome
lethal chondrodysplasia moerman type
lethal chondrodysplasia seller type
lethal congenital contracture syndrome
lethal osteosclerotic bone dysplasia
letterer siwe disease
leucinosis
leukocyte adhesion deficiency
leukocyte adhesion deficiency type 1
leukocyte adhesion deficiency type 2
leukodystrophy reunion type
leukoencephalopathy palmoplantar keratoderma
leukoencephalopathy with vanishing white matter
leukomelanoderma mental redardation hypotrichosis
leukonychia totalis multiple sebaceous cysts renal calculi
levic stefanovic nikolic syndrome
levin syndrome
levine crichley syndrome
levy hollister syndrome
lewandowski kikolich syndrome
lewis ocular albinism (type 3)
lewis pashayan syndrome
lewy body dementia
leydig cells hypoplasia
Leydigoma
li fraumeni syndrome
lichen planus follicularis
lichstenstein syndrome
liddle syndrome
limb deficiencies distal micrognathia
limb dystonia
limb reduction defect
limb scalp and skull defects
limb transversal defect cardiac anomaly
lindsay burn syndrome
lindstrom syndrome
linear hamartoma syndrome
linear inflammatory verrucous epidermal nevus
linear nevus syndrome
lip lit syndrome
lipid storage myopathy
lipidosis with triglycerid storage disease
lipoamide dehydrogenase deficiency
lipoatrophic diabetes
lipodystrophy berardinelli type
lipodystrophy familial partial
lipodystrophy rieger anomaly diabetes
lipoid congenital adrenal hyperplasia
lipoid proteinosis of Urbach and Wiethe
lipomatosis central non-encapsulated
lipomatosis familial benign cervical
lipomatosis familial benign cervical
lipomatosis of pancreas congenital
lipoproteine lipase deficiency
lisker garcia ramos syndrome
lison kornbrut feinstein syndrome
lissencephaly immunodeficiency
lissencephaly syndrome miller dieker type
lissencephaly type 1
lissencephaly type 2
lissencephaly x linked
listeriosis
lobar atrophy of brain
lobstein disease
localized epiphyseal dysplasia
locked-in syndrome
lockwood feingold syndrome
loffredo cennamo cecio syndrome
logic syndrome
loiasis
long qt interval-deafness
long qt syndrome familial
long qt syndrome type 1
long qt syndrome type 2
long qt syndrome type 3
loose anagen hair syndrome
loose anagene syndrome
lopes gorlin syndrome
lopes marques de faria syndrome
lopez hernandez syndrome
Lou-Gehrig disease
low birth weight dwarfism dysgammaglobulinemia
lowe kohn cohen syndrome
lowe oculocerebrorenal syndrome
lowe syndrome
lower limb anomaly ureteral obstruction
lower limb deficiency hypospadias
lower limb partial duplication renal agenesis
lower mesodermal defects
lowry maclean syndrome
lowry syndrome
lowry wood syndrome
lowry yong syndrome
lubani al saleh teebi syndrome
lubinsky syndrome
lucey driscoll syndrome
lucky gelehrter syndrome
lujan fryns syndrome
lumbar malsegmentation short stature
lundberg syndrome
lung agenesis heart defect thumb anomalies
lung herniation congenital defect of sternem
lupus anticoagulant familial
lupus erythematosus systemic
lurie kletsky syndrome
luteinizing hormone releasing hormone deficiency of with ataxi
lutz richner landolt syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
lyell syndrome
lyme disease
lymphangiectasies lymphoedema type hennekam type
lymphangioleiomyomatosis
lymphangioma
lymphangiomatosis
lymphatic filariasis
lymphedema distichiasis
lymphedema hereditary type 1
lymphedema hereditary type 2
lymphedema hydrocele cardiac defects
lymphedema hypoparathyroidism syndrome
lymphedema ptosis
lymphoblastic lymphoma
lynch lee murday syndrome
Lynch syndrome
lynch-bushby syndrome
lyngstadaas syndrome
lysine alpha-ketoglutarate reductase deficiency
lysinuric protein intolerance
lysosomal acid lipase deficiency
lysosomal alpha d mannosidase deficiency
lysosomal beta mannosidase deficiency
lysosomal glycogen storage disease with normal acid maltase activity
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