List rare diseases

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List rare diseases starting with a figure

11-beta-hydroxylase, deficit in
standard 11-beta-hydroxystéroïde déshydogénase 2, deficit in
17-alpha-hydroxylase, deficit in
17-beta-hydroxystéroïde déshydrogénase, deficit in
18-hydroxylase, deficit in
21-hydroxylase, deficit in
2,4-@diénoyl-CoA réductase, deficit in
2,8 dihydroxy-adénine urolithiase
3-beta-hydroxystéroïde déshydrogénase, deficit in
3C syndrome
3-hydroxy 3-méthylglutaryl-CoA (HMG) synthétase, deficit in
3-hydroxy 3-méthylglutaryl-CoA lyase, deficit in
3-hydroxyacyl-CoA déshydrogénase of the fatty-acids with short chain, deficit in
3-hydroxyacyl-CoA déshydrogénase of the fatty-acids with long chain, deficit in
3-méthylcrotonyl-CoA carboxylase, deficit in
3-méthylcrotonyl glycinurie
3-méthylglutaconyl-CoA hydratase, deficit in
47 XXX syndrome
47 XXY syndrome
47 xyy syndrome
48 xxxx syndrome
48 XXXY syndrome
48 xxyy syndrome
49 xxxxx syndrome
49 xxxxy syndrome
4-alpha-hydroxyphénylpyruvate hydroxylase, deficit in
5-alpha-réductase of the type 2, deficit in
5-oxoprolinase, deficit in
6-pyruvoyl-tétrahydroptérine synthase, deficit in
7-déhydrocholestérol réductase, deficit in

List diseases starting with a letter

With

Aagenaes, syndrome of
Aarskog like, syndrome
Aarskog dares pande, syndrome of
Aarskog, syndrome of
Aase Smith syndrome of
Aase, syndrome of
Abcd, cortico-sensitive syndrome
aseptic Abcès
Abdallat Davis Farrage, syndrome of
Abêtalipoprotéinémie
Ablépharie macrostomia
Abruzzo Erickson, syndrome of
congenital Absence of uterus and of vagina
Absence of nasal lashes, forms family
Abuelo-Forman-Rubin, syndrome
Acanthocytose chorée
Acanthocytose central nervous system disorders
Acanthosis-hirsutisme-diabetes
Acanthosis nigricans
Acanthosis nigricans cramps ends bouffies
hereditary Acatalasémie
Cerebral vascular accident
Acéruléoplasmine
Acétyl-CoA alpha-glucosaminide-NR-ACÉTYl transférase, deficit in
Achalasie-addisonisme-alacrimie
Achalasie alacrimy syndrome
Achalasie family microcephalus
Achalasie œsophagienne
Acheiropodie syndrome
Achondrogenèse
Achondroplasie
Achondroplasie-agammaglobulinémie, type Swiss
Achromatopsie supplements
Achromatopsie incomplete, related to X
isovaleric Acidémie
Acidémie methylmalonic with homocystinurie
Acidémie methylmalonic isolated, sensitive B12 vitamin
Acidémie pipecolic
propionic Acidémie
succinic Acidémie
Acide phytanic oxydase, deficit in
Amino-acid aromatic décarboxylés, double valproïque deficit in
Acid, exposure anténatale to the
family primitive distal Acidosis
infantile congenital Lactic acidosis
renal Acidosis tubular progressive deafness
distal tubular Acidosis
tubular Acidosis proximale
Acidurie 2-hydroxyglutaric
Acidurie 3-hydroxy-3-methylglutaric
Acidurie 3 hydroxy-isobutyric
Acidurie 3-methylglutaconic
hydroxy-butyric Acidurie 4
Acidurie argininosuccinic
Acidurie D-glycérique
Acidurie ethylmalonic
Acidurie formiminoglutamic
fumaric Acidurie
standard glutaric Acidurie 1
standard glutaric Acidurie 2
standard glutaric Acidurie 3
malonic Acidurie
Acidurie methylmalonic with homocystinurie
Acidurie methylmalonic isolated, resistant B12 vitamin, drove-zero
Acidurie methylmalonic isolated, sensitive B12 vitamin
Acidurie methylmalonic microcephalus mevalonic cataract
Acidurie
hereditary Acidurie orotic
Acidurie oxoglutaric
Acidurie pyroglutamic
Acitrétine, exposure anténatale to the
Ackerman syndrome
Aconitase, deficit in
Acranie
Acro-callous syndrome, standard Schinzel
Acrocephalie stenose pulmonary backwardness
Acro-céphalo-syndactylie (generic term)
Acro cranio facial dysostose
Acro-dento-osteo-dysplasie
Acrodermatite enteropathic
Acro dysostose
Acrodysplasie axial scoliosis
Acro facial dysostose post type richieri costa
standard Acrofaciale dysostose preis
standard Acro facial dysostose weyers
Acrokératoélastoïdose of Costa
Acromégalie
Acromegalie cuti-reactions gyrata
Acromegaloide facies
Acromegaloide hypertrichose syndrome
neurogenic Acroosteolyse
standard Acro osteolysis dominating
Acro pectoro renal anomaly
Acro pectoro vertebral dysplasy
Acropigmentation de Dohi
Acrorenal recessive syndrome
Acro reno mandibulaire syndrome
Acro reno ocular syndrome
Acro-scypho-dysplasie métaphysaire
ACTH, resistance to the
Activité continues muscle fiber
Acyl-CoA déshydrogénase of the fatty-acids with short chain, deficit in
Acyl-CoA déshydrogénase of the fatty-acids with average chain, deficit in
Acyl-CoA déshydrogénase of the fatty-acids with very long chain, deficit in
Acyl-CoA oxydase, deficit in
Adactylie unilateral
Adamantinome
Adams nance syndrome of
Adams oliver syndrome D
Addison related to X, disease of
Adenolipomatose de Launois-Bensaude
family Adenoma surrénalien
Adenosine désaminase, deficit in
Adenosine monophosphate désaminase, deficit in
Adenosine phosphoribosyltransférase, deficit in
Adénylosuccinase, deficit in
Adénylosuccinate lyase, deficit in
Adipose painful
Adrénoleucodystrophie dependant with X
Adrénoleucodystrophie néonatale autosomic
Adrénomyéloneuropathie (AMN)
Adreno myo dystrophy
Adult episodical syndrome
Adynamie of hereditary Gamstorp
Adysplasie urogenital
Aec syndrome
Afibrinogénémie family
Agammaglobulinémie related to X
standard Agammaglobulinémie alymphocytosic
standard Agammaglobulinémie autosomic recessive
bilateral Sterility of the vas deferenses
Sterility of the pancreatic cells beta with diabetes néonatal
Sterility of the pulmonary valves
diaphragmatic Sterility
Sterility of the body callous-anomaly choriorétinienne
Sterility of the callous body related to X, with changes in the gene Alpha 4
Sterility of the pancreas
gonadic Sterility
Sterility isolated from the callous body
dominant bilateral renal Sterility
renal Sterility myelomeningocele structures mulleriennes absent
crowned Sterility
splenic Sterility
Sterility tibiale polydactyly
cold Agglutinins, disease of the
Agnathie holoprosencephalie situs inversus
Agonadie
diaphragmatic Agonadisme dextrocardie hernia
Agyrie pachygyrie polymicrogyrie
Ahn - Lerman-Sagie, syndrome of
Aicardi-Goutières, syndrome of
Aicardi, syndrome of
Akesson syndrome of
Akinesie fetale fetal sequence
Akinesie syndrome binds to X
Alagille, syndrome of
Alanine-glyoxylate aminotransférase, deficit in (hyperoxalurie standard 1)
Al awadi farag teebi syndrome of
Al awadi teebi farag syndrome D
Albers-Schonberg, disease of
Albinism with surdi muteness
cutaneous Albinism phenotype hermine
immunizing Albinism-deficit
ocular Albinism
ocular Albinism late sensory deafness
oculo-cutaneous Albinism
Albrecht schneider belmont syndrome of
Albright like syndrome
Alcalose hypokaliemic with hypercalciurie
Alcaptonurie
fetal Alcoholism, syndrome of
Aldolase has muscular, deficit in
Aldostérone synthase, deficit in
Aldostérone synthétase, deficit in
Aleucocytose congenital
Alexander, disease of
Al frayh facharzt haque syndrome of
Al gazali hirschsprung vascular disease of
Algie of the face
Allain babin dissociate syndrome of
Allan-Herndon, syndrome of
Allanson pantzar mcleod syndrome D
Allgrove, syndrome of
Aloi tomasini isaia syndrome of
Alopecie anosmia deafness hypogonadism
Alopecie circumscribed congenital polydactyly
Alopécie, been dependant on X
Alopecie diminish nanism backwardness
immunizing Alopecie deficit
macular Alopecie degeneration small size
Alopecie epilepsy olegophrenie
Alopecie epilepsy pyorrhee backwardness
Alopecie congenital focal distance megalencephalie
Alopecie hyperkeratose palmoplantaire
Alopecie hypogonadism syndrome extrapyramidal
Alopecie backwardness
Alopecie backwardness hypogonadism
acid Alpha-1,4-glucosidase, deficit in
Alpha-1 antitrypsin, deficit in
Alpha-cétoglutarate déshydrogénase, deficit in
Alpha-D-MANNOSIDASe lysosomale, deficit in
Alpha-galactosidase has, deficit in
Alpha-L-FUCOSIDASe, deficit in
Alpha-L-IDURONIDASe, deficit in
Alpha-mannosidose
Alpha methyl acétoacétyl-CoA thiolase, deficit in
Alpha-NR-ACÉTYL-GALACTOSAMINIDASe, deficit in
Alpha-sarcoglycanopathie
Alport, with leucocytic inclusions and macrothrombocytopénie, syndrome of
Alport with léiomyomatose, syndrome of
Alport, with giant plates, syndrome of
Alport, syndrome of
Alstrom, syndrome of
allergic Alveolite extrinsic
Alves back santos castello syndrome
Alzheimer (family form), disease of
Amaurose congenital of Leber
Amaurose hypertrichose
Ambras, syndrome of
Amélie
Amelie dysmorphie facial
Amelie ectodermal dysplasy
Amélo-cérébro-hypohidrotique, syndrome
standard Amelogenese imperfect dominant hypoplasic
Amelogenese imperfect dependant has L X
Amelogenese imperfect nephrocalcinose
Amelo onycho hypohidrotic syndrome
Amibiase with free amoebas
Amibiase in Entameba histolytica
Standard dibasic amino-aciduria 1
standard dibasic Amino-aciduria 2
Aminoptérine, exposure anténatale to the Amniotic
, disease
Amylo-1,6-glucosidase, deficit in
Amyloïdose
Amylopectinose
Amylose
Amyoplasie oculomelic
Amyotrophie bulbo-spinale, related to X
Amyotrophie neuralgic of the shoulder
Amyotrophie spinale proximale
Amyotrophie greasy fabric fetal anomaly
Anadysplasie metaphysaire
Anasarque fetal
Anasarque anemia immunizing deficit inch hypoplasic
Anasarque fetal idiopathic
Andermann syndrome of
Andersen, disease of
Andersen, syndrome of
Anderson, disease of
Anemia with sickle-shaped red blood corpuscles
Anemia of Cooley
Anemia of Fanconi
Anemia due to the adenosine deficit triphosphatase
congenital dyserythropoietic Anemia
acquired, auto-immune haemolytic Anemia
lethal haemolytic Anemia genital anomalies
congenital megaloblastic Anemia
megaloblastic, thiamin-sensitive Anemia
progressive pernicious Anemia
triphalangic Anemia inch
sideroblastic Anemia
sideroblastic Anemia, been dependant on X, with ataxia
Anencéphalie
Anencéphalie-spina bifida, been dependant on X
corneal Anesthesia retinal anomalies deafness
Aneuploidie in mosaic microcephalus syndrome D
arteriovenous Aneurism pulmonary
Aneurism of the abdominal aorta, forms family
Anevrisme of the vein of galien
Anévrisme of the sine of left Valsalva
ventricular Anevrisme fetal
craniaux Anevrismes multiple anomalies
milliary Anévrysme of Leber
allergic Angéite granulomateuse
Angelman, syndrome of
Angioedème
Angiokératose de Fabry
Angiomatose cavernous of the brain
Angiomatose cutaneous and digestive
cystic Angiomatose of the bones, diffuses
cystic Angiomatose syndrome of seip
hereditary Angiomatose neurocutanee
Anguillulose
Aniridie renal sterility psychomotor delay
Aniridie, cérébelleuse ataxia, with backwardness
crystalline Aniridie luxation backwardness
Aniridie ptosis backwardness obesity
Aniridie backwardness syndrome of
Aniridie kneecap sporadic absence
Aniridie
Aniridie-tumor of Wilms
standard Aniridie 2
Anisakiose
Ankyloblepharon ectodermal anomalies slit labiopalatine
Ankyloblepharon palatine slit
dental Ankylosis
Ankylosis of the inches brachydactylie backwardness
Ankylostomiase
Anomaly acrorenale ectodermal dysplasy diabetes
Anomaly of Axenfeld-Rieger with hydrocéphalie and abnormal skeleton
Anomalies of the channel of muller renal galactosemy
Anomalies genital middle ear
Anonychie onychodystrophie brachydactylie standard B ectrodactylism
Anonychie hypoplasic distal phalanges
clinical Anophtalmie
Anophtalmie pulmonary hypoplasy
Anophtalmie - insufficiency hypothalamo-hypophyseal
Anophtalmie plus syndrome of
genetic Anorexia nervosa, forms
Anotie
glomerular Antibody basal anti-membrane (MBG), disease of the
tricyclic Antidepressants, acute intoxication by the
Antigen-peptide-to transport, deficit in
Antinolo nieto borrego syndrome of
Antiphospholipides, syndrome of the
Antisynthétases, syndrome of the
Antithrombine, congenital deficit in
Antley-Bixler, syndrome of
Anyane yeboa syndrome of
Aorta face anomalies backwardness
Aortic annulo-ectasiante, disease
Apeced syndrome
Appert like polydactyly syndrome
Appert, syndrome of
Aphalangie hemivertebres
Aphalangie syndactylie microcephalus
cutaneous Aplasie circumscribed of the vertex
recessive autosomic congenital Aplasie cutaneous
congenital cutaneous Aplasie dermoides epibulbaires
congenital cutaneous Aplasie of the members forms recessive
cutaneous Aplasie congenital intestinal lymphangiectasy
cutaneous Aplasie palatine slit epidermolyse
cutaneous Aplasie myopia
medullary Aplasie
Aplasie moniliforme
radial Aplasie foot split
Apo AI, deficit in
Apolipoprotéine B-100, family deficiency in
Apolipoprotéine C-II, deficit in
Apple peel standard syndrome
ocular Apraxie cogan
Aprosencephalie cerebelleuse disgenesis
Arachnodactylie abnormal ossification backwardness
Arbovirose
Arc branchial syndrome binds has L X
abnormal Aortic arcs
Arc syndrome
Aredyld syndrome D
Arginine: glycine amidinotransférase, deficit in
Argininémie
Argininosuccinate synthétase, deficit in
Arginosuccinase, deficit in
Arhinie
Arhinie atresy of the choanes microphtalmy
Arnold-Chiari, malformation of
Aromatase, deficit in
pulmonary Artery, absence of a
pulmonary Artery being born from the aorta
Arteritis with giant cells
temporal Arteritis
youthful temporal Arteritis
youthful Chronic arthritis
idiopathic youthful Arthritis
psoriatic Arthritis
reactional Arthritis
Youthful arthritis rhumatoïde
Arthrogrypose amyotrophie spinale
Arthrogrypose renal anomalies cholestase
standard multiple Arthrogrypose congenital neurogenic
Arthrogrypose of the hand dependant deafness
Arthrogrypose distal has L X
Arthrogrypose distal standard 1
standard Arthrogrypose distal 2
standard Arthrogrypose distal moore weaver
Arthrogrypose renal dysfonction cholestase
Arthrogrypose like syndrome
Arthrogrypose multiple congenital hypoplasy pulmonary
Arthrogrypose multiple face of whistling
multiple Arthrogrypose lethal cerebral calcifications
Arthrogrypose ophtalmoplegie retinopathy
Arthrogrypose by muscular dystrophy
hereditary Arthro-ophtalmoplégie progressive
infantile Arthropathie camptodactylie
Arthropathie pseudorhumatoide progressive
Arylsulfatase has, deficit in
Arylsulfatase B, deficit in
Asbestose
Ascite gelatinous
Ascites chyleuses
Aspartoacylase, deficit in
Aspartylglucosaminidase, deficit in
Aspartylglucosaminurie
Asped syndrome
To sprinkle, syndrome of
allergic Aspergillose
bronchopulmonary Aspergillose
Astrocytome
Asymetrie of the cry
Ataxie lactic acidosis 1
Ataxie driving apraxia oculo
Ataxie atrophies optical deafness
cerebelleuse Ataxie areflexie hollow foot atrophies optical and neurosensory deafness
dominant autosomic cérébelleuse Ataxie
recessive autosomic cérébelleuse Ataxie
Ataxie cérébelleuse autosomic recessive type III
cerebelleuse Ataxia with hypogonadism
cerebelleuse Ataxia ectodermal dysplasy
cérébelleuse Ataxia, related to X
cerebelleuse Ataxia early with conservation of the tendineux reflexes
Ataxia of Friedreich
Ataxia retinal degeneration tapeto
Ataxia of harding
Ataxia higher deviation of the eyes
Ataxia diabetes goiter gonadic insufficiency
episodical Ataxia with standard myokymy
episodical Ataxia 1
standard episodical Ataxia 2
Ataxia, Friedreich-like, by deficit in vitamin E
Ataxie hypogonadism infantile dystrophy choroidienne
Ataxie with hypomyelination diffuses central nervous system
macular Ataxie myoclonies degeneration
Ataxie myosis congenital
Ataxie pancytopenie
family paroxystic Ataxie
spastic Ataxie of type Charlevoix-Saguenay
spinocerebelleuse Ataxie dysmorphie
infantile spinocérébelleuse Ataxie
Ataxie deafness atrophies optical lethalite
Ataxie deafness backwardness
standard Ataxie deafness reardon
Ataxie telangiectasy
standard Atelencephalie
Atélostéogenèse 1
Atélostéogenèse of the standard type 2
Atélostéogenèse 3
Atherosclerose diabetes epilepsy deafness
Atkin flaitz patil smith syndrome D
Atransferrinemie
Atrésie colic
Atrésie of the esophagus
Atrésie of the urethra
Atresie of the choanes deafness cardiopathy
Atrésie of the bile ducts
Atrésie of the mitral hail
Atrésie of the larynx
Atresie duodenale
Atresie jejunal
Atresie
Atresie œsophagienne malformations associated
pulmonary Atrésie with communication interventriculaire
Atrésie tricuspide
posterior cortical Atrophy
Atrophy dentato-rubro-pallido-luysienne
Atrophy with the fibula parkinsonism ptosis strabism
Atrophy gyrée with the retina
progressive Atrophy hemifaciale
cerebral Atrophy lobaire
congenital microvilleuse Atrophy
muscular spinale and bulbar Atrophy
optical Atrophy
optical Atrophy with Leber
Atrophies optical ophthalmoplegie ptosis deafness optical myopathy
Atrophie deafness neuropathy
dominant Atrophie spinale benign
Aughton syndrome
Auriculo-ostéo-dysplasie
Auro cephalo syndactylie
Autisme, genetic forms
Ayasi syndrome of
Azoospermie lung infections sinusitis

B

Babésiose
Bader syndrome of
Balantidiase
Balantidiose
Ballard syndrome of
To ball gerold syndrome of
Ballinger-Wallace syndrome
Bamforth syndrome
Bangstad syndrome
Bannayan-Riley-Ruvalcaba, syndrome of
Baraitser rodeck garner syndrome of
Baraitser-Winter, syndrome of
To bore say syndrome of
Bardet-Biedl syndrome of
Barth, syndrome of
Bart pumphrey syndrome of
Bartsocas dads syndrome
Bartter, syndrome of
Bassan syndrome of
Bassoe syndrome
Battaglia-Neri, syndrome of
Baughman syndrome
Bazex-Dupre-Christol, syndrome of
Bbb syndrome
Bbb syndrome binds to X
Beals-Hecht, syndrome of
Bean, syndrome of
Beare stevenson syndrome
Bébé collodion, syndrome of
Beckwith-Wiedemann, syndrome of
Beemer ertbruggen syndrome of
Beemer langer syndrome of
Behçet, disease of
Behr syndrome of
Bellini-Chiumello-Rinoldi, syndrome of
Bencze syndrome of
Bennion Patterson syndrome of
Benson, syndrome of
Berardinelli-Seip, syndrome of
Berdon, syndrome of
Berger, disease of
Bernard-Shoe, chronic disease of
Berylliosis
Besnier-Boeck-Schaumann, disease of
Best, disease of
Beta-cétothiolase, deficit in
Beta-galactosidase, deficit in
Beta-glucuronidase, deficit in
Beta-mannosidase lysosomale, deficit in
Beta-mannosidose
aortic Beta-sarcoglycanopathie
valvular Bicuspidie
BIDS syndrome
Biemond syndrome
Biermer, disease of
Bietti, disease of
Bilharziose
Bilirubine uridinediphosphate glucuronosyltransférase, deficit in
Billiards toutain maheut syndrome of
Bindewald ulmer muller syndrome of
Birt-Hogg-Dubé, syndrome of
Bixler Christian gorlin syndrome of
Björnstadt, syndrome of
Bk-mole syndrome
Blackfan-Diamond, weakens
Blau, syndrome of
Blepharochalasis lip doubles
Blepharo cheilo dontic syndrome
Blepharo facio skeletal syndrome
Blepharo naso facial syndrome
Blépharophimosis-ptosis-épicanthus
standard Blepharophimosis syndrome ohdo
Blepharophimosis telecanthus microstomy
Blepharoptosis myopia ectopia of the crystalline lens
family progressive cardiac Bloc
Blomstrand syndrome of
Bloom, syndrome of
Blount, disease of
Bod syndrome
Boeck, disease of
Bonneau-Beaumont, syndrome of
Bonneman meinecke reich syndrome of
Bonnemann meinecke syndrome of
Book syndrome of
Boomerang dysplasy
Borjeson-Forssman-Lehmann, syndrome of
Bork stender Schmidt syndrome of
Borréliose
BOR syndrome
Botulism
To stop neuhauser syndrome of
Bourneville, syndrome of
Bowen conradi syndrome of
Bowen syndrome of
Bowen syndrome of the type hutterite
Boyadjiev - Jabs, syndrome of
Brachmann-in Lange, syndrome of
Brachycephaly
Brachycephaly deafness cataract backwardness
Brachy cephalo fronto nasal dysplasy
Brachydactylie absence of distal phalanges
Brachydactylie clinodactylie
Brachydactylie elbows wrists dysplasy
Brachydactylie arterial hypertension
standard Brachydactylie preaxiale hallux varus
Brachydactylie A1
standard Brachydactylie A2
standard Brachydactylie A3
standard Brachydactylie A4
standard Brachydactylie A5
standard Brachydactylie A6
standard Brachydactylie B
standard Brachydactylie C
standard Brachydactylie D
standard Brachydactylie E
standard Brachydactylie Mohr wriedt
Brachydactylie types B and E combine
standard Brachydactylie temtamy
renal Brachymesomelie syndrome
Brachymesophalangie members short mesomelic bones anomalies
standard Brachymesophalangie 2
Brachymesophalangie standards 2 and 5
Brachymorphisme onchodysplasy dysphalangism syndrome
Brachyolmie
Brachytelephalangie $kalman syndrome
Braddock Jones superneau syndrome of
Branchiale dysplasy backwardness hernia
Branchio oculo facial syndrome
Branchio-otic, Branchio-Oto-Renal syndrome
, syndrome
Branchio squeletto genital syndrome
Braun Bayer syndrome of
Bride poplitee syndrome of the
Bride poplitee syndrome forms lethal
Brocq, cicatricial alopecia of
Brodie chole griffin syndrome of
Bronchiectasies oligospermy
Bronspiegel zelnick syndrome of
Brucellose
Bruck, syndrome of
Brugada, syndrome of
Brunner-Winter, syndrome of
Bruyn scheltens syndrome of
Buckley, syndrome of
Budd-Chiari, syndrome of
Buerger, disease of
Bull nixon syndrome of
Burn goodship syndrome of
Buschke-Fischer-Brauer, syndrome of
Buschke-Ollendorff, syndrome of
Bustos simosa pinto cisternas syndrome of
Buttiens fryns syndrome of
Butyryl-cholinestérase, deficit in

C

CACH syndrome
CADASIL
Caffey, disease of
generalized arterial Calcification, infantile form
Calcifications of the plexus choroid forms infantile
Calcinosis universalis
Calderon gonzalez cantu syndrome
Calpaïnopathie
Camera lituania cohen syndrome
Camfak standard syndrome
Campomelie cumming
Camptobrachydactylie
Camptocormie
Camptocormisme
Camptodactylie advances staturoponderal dysmorphie
Camptodactylie of Goodman
Camptodactylie osseous dysplasy
standard Camptodactylie taurinurie
Camptodactylie will guadalajara standard 2
standard Camptodactylie guadalaraja standard 1
Camurati engelmann syndrome of
Canal atrioventriculaire complete
partial Channel atrioventriculaire
Carpel tunnel, syndrome of the
Canale-Smith, syndrome of
Channels of Müller, syndrome of persistence of the
Canavan, disease of
Cancer anaplasic of thyroid the
hereditary Cancer colorectal without polypose
Cancer of the prostate, forms family
Cancer of the stomach of the type Borrmann 4
Cancer of the stomach, family
Cancer of parathyroid the
Cancer of the colon nonpolyposic
Breast cancer and of the ovary
Breast cancer, family
medullary Cancer of thyroid
family pancreatic Cancer
papillary Cancer of thyroid the
renal, family papillary Cancer
chronic Candidose family
Candidose cutanéomuqueuse idiopathic
Cantrell to haul ravitsch syndrome of
Cantu sanchez corona fragoso syndrome of
Cantu sanchez corona hernandes syndrome of
Capos syndrome
Carbamyl-phosphate synthétase, deficit in
Carboxylases, multiple deficit in
Carcinome of the gall bladder
follicular Carcinome of thyroid the
Carcinome nasopharyngé
family renal Carcinome
Cardiaque anomaly hamartomes of the language polysyndactylie
Cardio acro facial syndrome
cranial Cardio standard syndrome pfeiffer
Cardio facio cutaneous syndrome
genital Cardio syndrome
Cardiomelique Spanish standard syndrome
standard Cardiomelique syndrome stratton
auricular Cardiomyopathie with cardiac block
Cardiomyopathie cataract pelvic anomalies spondylo
Cardiomyopathie-diabetes-deafness
Cardiomyopathie dilated with deficit of family conduction
Cardiomyopathie dilated
Cardiomyopathie dilated idiopathic, mitochondriale
hypertrophic Cardiomyopathie family
infantile Cardiomyopathie fatal, been dependant on X
Cardiomyopathie-deafness standard Tarn-lily transferred
standard Cardiopathie anomaly of the members 2
Cardiopathie anomalies of laterality
Cardiopathie blepharophimosis radius anomaly
Cardiopathie congenital short members
Cardiopathie conotroncale family
Cardiopathy round face small size
Carey fineman ziter syndrome
Carnevale canum mendoza syndrome of
Carnevale hernandez castillo syndrome of
Carnevale krajewska fischetto syndrome of
Carney, complex of
Carnitine-acylcarnitine translocase, deficit in
cellular Carnitine, defect of collecting of the
Carnitine palmitoyltransférase I, deficit in
Carnitine palmitoyltransférase II, deficit in
Carnosinase, deficit in
Carnosinémie
Caroli, disease of
Carrington, syndrome of
Castleman, disease of
Castro gago pomto novo syndrome of
Catalase, deficit in
Cataracte alopecie sclerodactylie
dominant polar former Cataracte
Cataracte ataxia deafness
Cataracte cardiomyopathy
Cataracte cerebellum atrophies myopathy backwardness
congenital Cataracte
congenital Cataracte with microphtalmy
congenital Cataracte, dysmorphie facial and neuropathy
Cataracte oral brakes delay of growth
Cataract-glaucome
Cataract-hyperferritinémie
Cataracte ichtyose syndrome
Cataract-microcornée
Cataracte microphtalmy cardiopathy
Cataracte nephropathy encephalopathy
Cataracte abnormal skeleton
standard Cataracte hutterite
standard Cataracte volkmann
dominant Cataracte zonulaire
Catarate backwardness hypogonadism
WRESTLING 22
Catel manzke syndrome of
Cat-eye, syndrome
Cavernomes cerebral
Cayler syndrome of
CCA syndrome
Ccge syndrome
CDG syndrome
Cecato of filed pinheiro syndrome of
cortical Cecite backwardness polydactyly
Cécité of the rivers
stationary congenital night Cécité
Cellules with inclusions, disease of the
Cellulite dissecting of the scalp
thoracic Célosomie
Cenani Lenz syndactylie
Céphalopolysyndactylie
Cephalosquelettique dysplasy
Céramidase, deficit in
Cerebro costo mandibulaire syndrome
Cerebro facio thoracic dysplasy
Cérébro-hépato-renal, syndrome
skeletal Cerebro oculo dento auriculo syndrome
Cerebro reno digital syndrome
Céroïde-lipofuscinose neuronal
Cerebellum aplasia hydrocephalie
Cerebellum hypoplasy
Cervico oculo acoustic syndrome
Céto-acid décarboxylase, deficit in
Ceto acidurie backwardness ataxia deafness
CFC syndrome
Chagas, disease of
Chanarin, disease of
Chands syndrome
Chang davidson carlson syndrome of
Charcot, disease of
Charcot-Marie-Tooth, disease of
Charcot Marie tooth disease of deafness forms dominant
Charcot Marie tooth disease of deafness forms recessive
Charcot Marie tooth disease of deafness backwardness
Standard Charcot Marie tooth 1 cutaneous aplasia
Douglas Tank dungan syndrome of
LOAD association
Load like syndrome
LOAD syndrome
Charlevoix disease of
Tank, syndrome of
Chediak-Higashi like, syndrome of
Chediak-Higashi, syndrome of
glandular Cheilite
Chérubinisme
Cherubinisme fibromatose gingival backwardness
Chérubisme
Hair null and void anagenes, disease of the
ringed Hair, disease of the
Hair anomalies photosensitivity backwardness
Hair bamboos, syndrome of the
breakable Hair backwardness
crisp Hair hypotrichose lips eversees ears decollees
Hair planks ankyloblepharon dysplasy of the nails
Hair incoiffables, syndrome of the
woolly Hair keratosis palmoplantaire cardiopathy
woolly Hair, syndrome of the
Ankle anomalies small size
CHILD syndrome
Chitayat miller hodgkinson syndrome of
Chitayat moore LED bigio syndrome of
Chitty hall baraitser syndrome
toxic Choc staphylococcic
Cholangite sclerosing
Cholémie familale
Choléra
Cholestase lymphoedeme
pigmentary Cholestase retinopathy palatine slit
Cholestases intrahepatic family progressive
tubular Cholostase impaired renal function
articular Chondrocalcinose
Chondrodysplasie with giant cells
Chondrodysplasie lethal type Moerman
Chondrodysplasie lethal standard Seller
standard Chondrodysplasie lethal of the recessive Vault
Chondrodysplasie métaphysaire
Chondrodysplasie métaphysaire standard Jansen
Chondrodysplasie métaphysaire standard McKusick
Chondrodysplasie métaphysaire standard Schmid
Chondrodysplasie punctuated dominant related to X
Chondrodysplasie punctuated nonrhizomelic
standard Chondrodysplasie punctuated rhizomelic
Chondrodysplasie pseudohermaphrodism
Chondrodysplasie recessive lethal
Chondrodysplasie situs inversus anus imperfore standard polydactyly
Chondrodysplasie Blomstrand
standard Chondrodysplasie Grebe
Chondrodystrophie calcifying congenital
Chondrosarcome
Chorde split dorsal, syndrome of the
Benign Chordome
Choree acanthocytose
Chorée de Huntington
Choree family
Choreo acanthocytose amyotrophic
Choréoathétose and spasticity, episodical
paroxystic Choreoathetose family
Chorioretine dysplasy microcephalus backwardness
standard Choriorétinopathie Birdshot
Choroïdérémie
Choroideremie obesity deafness
Christian of myer franken syndrome of
Christian johnson angenieta syndrome of
Christianson fourie syndrome of
Christ-Siemens-Touraine, syndrome of
Chromosome 10 out of ring
Chromosome 12 out of ring
Chromosome 14 out of ring
Chromosome 17 out of ring
Chromosome 18 out of ring
Chromosome 19 in ring
Chromosome 1 out of ring
Chromosome 20 out of ring
Chromosome 21 out of ring
Chromosome 22 out of ring
Chromosome 4 out of ring
Chromosome 6 out of ring
Chromosome 7 out of ring
Chromosome 8 out of ring
Chronique, Infantile, Neurologique, Cutané, Articulaire, syndrome
Chudley lowry hoar syndrome
Chudley rozdilsky syndrome
Churg-Strauss, syndrome of
Cilliers beighton syndrome of
long Cils backwardness
CINCA syndrome
primitive biliary Cirrhose
Citrullinémie
Clarkson, disease of
Clayton smith gave syndrome of
Cleidocranial dysplasy micrognathism inches absent
Cleido rhizomelic syndrome
Clouston, syndrome of
MVC, infection anténatale with the
Coach aortic syndrome
Coarctation, atypical form
Coarctation of the abdominal aorta
Coarctation of L aorta has dominant transmission
Coats, disease of
Cocaïne, exposure anténatale to the
Cockayne, syndrome of
Cockayne-Touraine, disease of
Codas syndrome
Cœliaque, disease
Cœur with ventricles intersected
Cross heart
Whetstone sheath-Lowry, syndrome of
Whetstone sheath-Siris, syndrome of
Cofs syndrome
Cogan, syndrome of
Cohen, syndrome of
Colchicine, intoxication by the
Adhesive-Carpenter, syndrome of
collagenous Colite
cutaneous, family Collagénome
Collins pope syndrome of
Colobome with nephropathy
Colobome hair anomaly
Colobome chorioretinien aplasia vermis cerebelleux
Colobome of mackled brachydactylie
Colobome-slit mental labiopalatine-delay
ocular Colobome
Colobome eyepiece-anus imperforé
inter-auricular Communication
inter-auricular Communication with disorder of inter-ventricular conduction
Communication
Complex Complement c2 deficit in
1 of the respiratory chain mitochondriale, deficit in
Complex 2 of the respiratory chain mitochondriale, deficit in
Complex 4 of the respiratory chain mitochondriale, deficit in
Complex sarcosin déshydrogénase, deficit in
premature chromosomal Condensation with microcephalus and backwardness
gonococcal Conjunctivitis
mixed Connectivity
Connexine 26, anomaly of the
Conradi-Hünermann-Happle, pericardial syndrome of
Constriction delay of growth
Diminish Congenital-Arachnodactylie
Contractures congenital lethal, syndrome of (LCCS) the
Contractures ectodermal dysplasy slit labiopalatine
Diminish hyperkeratose lethalite
Contractures multiple, standard Finnish, syndrome of the
family benign infantile Convulsions
infantile Convulsions and choréoathétose
family benign Convulsions néonatales
Cooks, syndrome of
Cooper wang jabs hereditary syndrome of
Coproporphyrie
Coqueluche
vocal Cords family dysjonction
Cornee cerebellum syndrome of
Cornee dystrophy fragile deafness
Cornee syndrome of the
Cornelia de Lange, syndrome of
Corneo dermato osseous syndrome
callous Corps sterility cataract immunodeficience
callous Corps sterility microcephalus small size
callous Corps sterility neuropathy
Corps callous sterility polysyndactylie
callous Corps dependant recessive sterility has L X
callous Corps agenesis blepharophimosis sequence of Robin
Corticostérone methyl-oxydase (CMO), deficit in
Cortico-surrénalome
Costello syndrome of
Côtes short-polydactyly, syndrome of the
short Cotes type beemer syndrome
Cousin walbraum will cegarra syndrome of
Covesdem syndrome of
Cowden, syndrome of
Coxo auricular syndrome
Coxo podo patellar syndrome
Crandall, syndrome of
Crane out of clover
Crane out of clover osseous dysplasy generalisee
Crane out of clover micromelie thoracic dysplasy
Cranio-cérébello-cardiac Crane heise syndrome
, dysplasy
Cranio diaphysaire dysplasy
Cranio digital anomalies backwardness
ectodermal Cranio dysplasy
Craniofaciale dysostose facial hyperplasy diaphysaire
Cranio dyssynostose
Craniofacial deafness hand syndrome
Cranio facio cardio skeletal syndrome
Cranio facio digito genital syndrome
Cranio fronto nasal standard syndrome teebi
Cranio metaphysaire dominant dysplasy
Cranio metaphysaire recessive dysplasy
Cranio osteo arthropathy
Craniostenose cardiopathy backwardness
Craniostenose cataract
Craniostenose backwardness cardiac anomalies
Craniostenose backwardness slit
Craniosténoses (generic term)
standard Craniostenose fountain
standard Craniostenose maroteaux fonfria
Craniosynostose radial aplasia
Craniosynostose arthrogrypose palatine slit
Craniosynostose brachydactylie
Craniosynostose dandy Walker hydrocephalie
Craniosynostose exostoses naevus cysts dermoides
Craniosynostose forms dominant autosomic
standard Craniosynostose warman
Craniosynostosis hydrancephalie telencephalic aplasia of the inch
Cranio dysplasy
Craniotubulaire, syndrome
cerebral Créatine, deficit in
Creutzfeldt-Jakob, disease of
Cri of the cat, syndrome of the
Crigler-Najjar, syndrome of
Crisponi syndrome of
Criss-cross-country race
Criswick-Schepens, syndrome of
Crohn, disease of
slow Croissance of the hair
Cronkhite Canada syndrome of
Cross-country race syndrome of
Crouzon, disease of
Crow-Fukase, syndrome of
Cryoglobulinémie
Cryptococcosis
Cryptomicrotie brachydactylie dermatoglyphes anomalies
Cryptophtalmie-syndactylie, syndrome
Cryptosporidiose
C syndrome
Cubito-mammaire, syndrome
Ulna and fibula anomalies absence of the severe members
Ulna family hypoplasy
Copper benign deficiency in
Copper disease transport of
Culler Jones syndrome of
Currarino, triad of
Curry hall syndrome of
Curry Jones syndrome of
Cushing, family, syndrome of
Cutaneo cardio osteoarticulaire standard syndrome borrone
Cuti-reactions gyrata acanthosis nigricans craniosynostose
Cuti-reactions laxa
Cuti-reactions laxa corneal opacity backwardness
Cuti-reactions laxa osteoporosis
Cuti-reactions marmorata telangiectatica congenita
Cuti-reactions verticis gyrata backwardness
Cuti-reactions verticis gyrata thyroid aplasia backwardness
low Cutler romshe syndrome of
Cylindromatose de Poncet-Spiegler
Cystathionine beta-synthase, deficit in
Cystathioninurie
Cysticercosis
Cystinose
Cystinurie
Cystinurie-lysinurie
Cytochrome C oxydase, deficit in
Cytomegalovirus, infection anténatale with the
Cytopathies mitochondriales (generic term)
Czeizel brooser syndrome of
Czeizel losonci syndrome of
Czeizel syndrome of

D

Dahlberg borer newcomer syndrome of
Daish hardman lamont syndrome of
Dandy facial Walker hemangiome
Dandy Walker macrocephaly
Dandy-Walker, malformation of
Dandy Walker polydactyly postaxiale
Dandy Walker syndrome of recessive
Dandy Walker dependant recessive transmission has L X
Davy Daneman mancer syndrome of
Danon, disease of
Darier, disease of
Da silva syndrome of
Davenport donlan syndrome of
David syndrome of
Davis lafer syndrome of
Deal barratt dillon syndrome
Of barsy syndrome of
occipital Detachment of retina encephalocele
Defect of lateralization
immunizing Deficit with nanism with short members
immunizing Deficit severe compound with hyperéosinophilie
immunizing Deficit severe compound with leucopenia
immunizing Deficit severe compound of type alymphocytose
immunizing Deficit severe compound, related to an adenosine deficit désaminase
immunizing Deficit severe compound owing to lack of expression of molecules HLA of class 2
immunizing Deficit severe compound T B
immunizing Deficit severe compound, T B+, related to X
immunizing Deficit severe compound, T B+, related to a deficit in JAK3
common immunizing Deficit variable
cortico-basal Degeneration
hépato-lenticular Degeneration
youthful macular Degeneration
youthful macular Degeneration hypotrichie
macular Degeneration related to the macular age
Degeneration vitelliforme
retinal Degeneration microphtalmy glaucome
spongy Degeneration of the central nervous system
family Degeneration striatale
striato-nigric Degeneration
vitréo-retinal Degeneration of Wagner
Of hauwere leroy adriaenssens syndrome
Déhydratase, deficit in
Dekaban-Arima, syndrome of
Of the Vault, syndrome of
Deletion 10p
Deletion 10pter
Deletion 10q
Délétion 11p
Deletion 11p11 p12
Délétion 11q
Deletion 12p12 p11
Deletion 12p13
Deletion 13q
Deletion 13q14
Deletion 13q22
Deletion 13q32
Deletion 14q11
Deletion 14q31
Deletion 14q partial partial duplication 14p
Deletion 14qter
Deletion 15q1
Deletion 15q25
Deletion 17q23 q24
Deletion 18p
Deletion 18q
Deletion 18q23
Deletion 1p
Deletion 1p22 p13
Deletion 1p31 p22
Deletion 1p32
Deletion 1p34 p32
Deletion 1p36
Deletion 1q21 q25
Deletion 1q25 q32
Deletion 1q32 q42
Deletion 1q4
Deletion 20p
Deletion 21q22
Délétion 22q13.3
Deletion 2p22
Deletion 2pter p24
Deletion 2q
Délétion 2q24
Deletion 2q37
Deletion 2q duplication 1p
Deletion 3p
Deletion 3p14 p11
Deletion 3p25
Deletion 3q13
Deletion 3q21 23
Deletion 3q27
Délétion 4p
Deletion 4p14 p16
Deletion 4q
Deletion 4q32
Délétion 5p
Délétion 5q35
Deletion 6p23
Deletion 6q
Deletion 6q1
Deletion 6q13 q15
Deletion 6q16 q21
Deletion 6q2
Deletion 7
Deletion 7q21
Deletion 7q3
Délétion 8p
Délétion 8p23.1
Deletion 8q
Deletion 8q12 21
Deletion 8q21 q22
Deletion 9p
Délétions of Y
Deletion xp22 pter
Deletion xq28
Deletion there partial
Delleman-Oorthuys, 5-carboxylate syndrome of
Delta-1-pyrroline déshydrogénase, deficit in (standard hyperprolinemy 2)
5-carboxylate Delta-1-pyrroline synthétase, deficit in
Delta-sarcoglycanopathie
Insanity with body of Lewy
hereditary dysphasic Insanity
fronto-temporal Insanity
fronto-temporal Insanity and Parkinsonisme, related to the chromosome 17
hereditary multiple cerebral Insanity-infarctions
De Morsier, syndrome of
Tooth and nail syndrome of the
Dentine imperfect dysplasy osteosclerose
Dentinogenèse of type 1
Tooth, disease of
Denys-Drash, syndrome of
Déplétions of the DNA mitochondrial
Dercum, disease of
Immunizing Disordered state, Polyendocrinopathie, Entéropathie, related to X (IPEX)
Derived mülleriens persistent
DER kaloustian jarudi khoury syndrome from
DER kaloustian mcintosh silver syndrome
Dermatite herpétiforme
Dermatochalazie granulomateuse
lenticular Dermatofibrose disseminated with ostéopoécilie
milliary Dermatoglyphes syndactylie absence
Dermatoleucodystrophie
Dermatomyosite
standard Dermato osteolysis feverish Kirgiz
Dermatosis neutrophile acute
erosive pustuleuse Dermatosis of the scalp
pustuleuse Dermatosis under-cornea
Dermatostomatite, standard Stevens Johnson
Dermoides corneal small size
Dermo odonto lethal dysplasy
Dermopathie restrictive
Of sanctis cacchione syndrome of
Desbuquois, syndrome of
Déshydrogénases to FAD, multiple deficit of the
Desmostérolose
De Vaal, disease of
Devriendt legius fryns syndrome of
Devriendt vendenberghe fryns syndrome of
Dextrocardie
Dextrocardie microphtalmy palatine slit backwardness
D-glycérate déshydrogénase, deficit in (hyperoxalurie standard 2)
D-glycérate kinase, deficit in
Diabetes, youthful form
insipid Diabetes of central origin
insipid Diabetes nephrogenic
Diabetes lipoatrophic
Diabetes néonatal
Diabetes noninsulino-dependant with deafness
Diabetes-deafness on maternal transmission
Diagete hypogonadism deafness backwardness
Diamond-Blackfan, disease of
chlorinated, congenital Diarrhée
chronic Diarrhee with atrophy villositaire
Diarrhee polyendocrinopathy dependant infections has L X
Diastematomyelie
DIDMOAD syndrome
Diencephalique syndrome
Die smulders vles fryns syndrome of
Diéthylstilbestrol, exposure anténatale to
DiGeorge, syndrome of
Digitaliques, intoxication by the
pedal Digito syndrome
Digito reno cerebral syndrome
Dihydrolipoamide déshydrogenase, deficit in (DLD)
Dihydroptéridine réductase, deficit in
Dihydropyrimidinase, deficit in
Dihydropyrimidine déshydrogénase, deficit in
Dihydropyrimidinurie
idiopathic Dilatation of the right auricle
Dincsoy salih patel syndrome of
Diomedi bernardi placidi syndrome
Dionisis vici sabetta will gambarara syndrome of
Diphénylhydantoïne, exposure anténatale to the
facial Diphtérie
Diplégie congenital
infantile standard spastic Diplegie
Dipygus
Disaccharides, intolerance with the
isolated ventriculo-arterial Discordance
pigmentary Disomie uniparentale
Dispersion, syndrome of
family aortic Dissection
arterial Dissection with lentiginose
Distichiasis vascular anomalies cardio
Distomatose
Diverticule of the heart
Dk phocomelie syndrome
Gave barrow syndrome of
Donohue, syndrome of
Door syndrome
Dopamine beta-hydroxylase, deficit in
Double discordance
Double atrio-ventricular and ventriculo-arterial discordance
Double there
Dracunculose
Drash, syndrome of
Dravet, syndrome of
Drépanocytose
Duane, anomaly of - myopathy - scoliosis, syndrome
Duane, syndrome of
Dubin-Johnson, syndrome of
Dubowitz, syndrome of
Duchenne and Becker, myopathy of
Duhring-Brocq, disease of
Duplication 10p
Duplication 10pter p13
partial Duplication 10q
Duplication 12p
Duplication 12q
Duplication 13
Duplication 13p
Duplication 13q
Duplication 14q partial partial deletion 14p
Duplication 14qprox
Duplication 14qter
Duplication 15q
Duplication 16p
Duplication 16q
Duplication 17p
Duplication 17p11 2
Duplication 18
Duplication 18p
Duplication 18q
Duplication 19q
Duplication 1p21 p32
Duplication 1q12 q21
Duplication 1q32 qter
Duplication 1q42 11 q42 12
Duplication 1q42 qter
Duplication 20p
Duplication 22
Duplication 22q11 q13
Duplication 2p
Duplication 2p13 p21
Duplication 2pter p24
Duplication 2q
Duplication 2q37
Duplication 3p
Duplication 3p25
Duplication 3q
Duplication 3q13 2 q25
Duplication 4p
Duplication 4q
Duplication 4q21
Duplication 4q25 qter
Duplication 5p
Duplication 5pter p13 3
Duplication 5q
Duplication 6p
Duplication 6q
Duplication 7p
Duplication 7p13 p12 2
Duplication 7q
Duplication 8p
Duplication 8q
Duplication 9p partial
Duplication 9q21
Duplication 9q32
caudal Duplication
Duplication of the urethra
Duplication xp3
Duplication xpter xq13
Duplication xq
Duplication xq13 1 q21 1
Duplication xq25
Dyggve-Nickel silver-Clausen, syndrome of
Dykes markes to grip syndrome of
Dysautonomie family
Dyschondrostéose
Dyschondrosteose nephropathy
symmetrical Dyschromatose of the ends
family Dysentery ciliaire
Dysequilibrium syndrome
Dysfibrinogénémie
family Dysfunction vestibulocochleaire progressive
family caudal Disgenesis
gonadic Disgenesis multiple anomalies
gonadic Disgenesis dermoide epibulbaire
standard gonadic Disgenesis xx deafness
gonadic Disgenesis XY
hypergonadotrophic Disgenesis ovarienne
reticular Disgenesis
Dysgerminome
Dyskératose congenital
follicular Dyskératose
Dyskinésie ciliaire primitive
Dyskinésie ciliaire primitive, standard Kartagener
Dyskinesie oro facial
Dyskinésie late
Dyslipoprotéinémie with “broad-beta”
Dysmorphie colobome callous body sterility
Dysmorphie multiple malformations
Dysosteosclerose
Dysostose acrale dyserythropoietic
Dysostose acrofaciale sexual ambiguity
Dysostose acrofaciale form catane
standard Dysostose acrofaciale postaxiale
Dysostose acro-facial Nager
standard Dysostose acrofaciale palagonia
standard Dysostose acrofaciale rodriguez
Dysostose acro fronto facio nasal
Dysostose cleido-cranial
Dysostose craniofaciale dental genital anomalies cardiac
Dysostose craniofaciale standard Crouzon
Dysostose faciocranienne hypomandibulaire
Dysostose fronto facio nasal
Dysostose humero spinale facial cardiopathy
Dysostose oculo maxillo
peripheral Dysostose
Dysostose spondylocostale
Dysostose spondylo costal form dominant
standard Dysostose stanescu
Dysphasie congenital family
Acromesomelic Dysplasy standard Campailla Martinelli
Dysplasie acromesomelic standard Grebe
Dysplasie acromesomelic standard Hunter-Thompson
Dysplasie acromesomelic standard Maroteaux
Dysplasie acromicric
artério-hepatic Dysplasie
Dysplasie atrio-digital
Dysplasie campomelic
Dysplasie chondroectodermic
Dysplasie cleido cranial
Dysplasie cranio-fronto-nasal
Dysplasie cranio-lenticulo-suturale
Dysplasie diaphysaire weakens
Dysplasie diaphysaire progressive
Dysplasie diastrophic
Dysplasie of the skeleton brachydactylie
Dysplasie of the thorax and of the members standard
ectodermal Dysplasie alopecie ectodermal polydactyly preaxiale
Dysplasie will rivet anhidrotic labial slit
ectodermal Dysplasie anhidrotic related to X
Dysplasie ectodermal blindness
ectodermal Dysplasie dermatoglyphes absent
ectodermal Dysplasie ectrodactylism macular dystrophy
ectodermal Dysplasie euhidrotic
ectodermal Dysplasie facial
ectodermal Dysplasie hidrotic standard christianson fourie
ectodermal Dysplasie hypohidrose hypothyroidism
ectodermal Dysplasie hypohidrotic, dominant form
ectodermal Dysplasie hypohidrotic, recessive form
ectodermal Dysplasie hidrotic related to X
Dysplasie ectodermal cyst adrenal
ectodermal Dysplasie odonto micronychiale
ectodermal Dysplasie backwardness malformation of the snc
ectodermal Dysplasie backwardness syndactylie
ectodermal Dysplasie neurosensory deafness
ectodermal Dysplasie (generic term)
standard ectodermal Dysplasie bartalos
ectodermal Dysplasie standard Berlin
Standard ectodermal Dysplasy margarita
standard ectodermal Dysplasie tricho odonto onychial
Dysplasie epiphysaire hemimelic
Dysplasie epiphysaire microcephalus nystagmus
Dysplasie épiphysaire multiple type recessive
Dysplasie épiphysaire multiple type dominant
Dysplasie épiphysaire early multiple-diabetes
Dysplasie epiphyso phalangeal
Dysplasie fibrous of the bones
Dysplasie fronto metaphysaire
Dysplasie fronto-nasal
Dysplasie fronto nasal acromelic
Dysplasie fronto nasal klippel feil syndrome
Dysplasie gnatho-diaphysaire
Dysplasie immuno osseous of schimke
Dysplasie iridal hypertelorism lethal deafness
Dysplasie kyphomelic
Dysplasie standard Greenberg
standard Dysplasie macroepiphysaire mcalister coe
Dysplasie maxillo-nasal
Thai standard Dysplasie mesomelic
Dysplasie metaphysaire cubital
Dysplasie metaphysaire of metatropic pyle
Dysplasie metaphysaire without hypotrichose
Dysplasie
hereditary Dysplasie mucoepitheliale
neuro-ectodermal Dysplasie standard CHIME
Dysplasie oculo-auriculo-vertebral (OAV)
Dysplasie oculo dento osseous recessive
Dysplasie olfactogénitale of standard Morsier
Dysplasie osseous lethal holmgren forsell
standard Dysplasie osseous néonatale 1
Dysplasie osseous osteosclerotic lethal
Dysplasie oto-spondylo-mégaépiphysaire
Dysplasie panostotic fibrous
Dysplasie polyépiphysaire
Dysplasie pseudo achondroplasic
Dysplasie pseudo achondroplastic
Dysplasie renal renal anomaly of the members
Dysplasie retinal aplasia
Dysplasie renal diffuse, recessive
Dysplasie renal megalocyste sirenomelie
Dysplasie renal multikystic, diffuses
Dysplasie retinal dependant has L X
Dysplasie septooptic septo-optics
Dysplasie anomalies of the fingers
standard Dysplasie spinale anhalt
Dysplasie spondylo enchondrale
Dysplasie spondylo-épimétaphysaire
Dysplasie spondylo-épiphysaire
Dysplasie spondyloepiphysaire progressive arthropathy
Dysplasie spondyloépiphysaire pseudo-achondroplasique
Dysplasie spondylo epiphysaire nephrotic syndrome
Dysplasie spondylo-huméro-femoral
Dysplasie spondylo-métaphysaire
Dysplasie spondylométaphysaire with immunizing deficit compound
Dysplasie spondylo peripheral ulna short
skeletal Dysplasie epilepsy standard small size
skeletal Dysplasie moore
standard skeletal Dysplasie san diego
thoracic Dysplasie thanatophore
Dysplasie hydrocephalie
Dysplasie tricuspide
tubular Dysplasie trochléenne
Dysplasie
valvular Dysplasie of the ventricular child
Dysplasie right-hand side arythmogene
Dysprothrombinémie
Dyssegmentaire standard dysplasy silverman handmaker
dope-sensitive Dystonie
Dystonie idiopathic family
muscular Dystonie deforming
Dystonie-Parkinsonisme, related to X
Dystonie progressive with diurnal fluctuation
macular standard hereditary Dystrophy bulleuse
corneal Dystrophy
crystalline Dystrophy of Bietti
dermo-chondro-corneal Dystrophy of François
dominant Dystrophy of the cones late form
Dystrophy of the cones and the sticks
Dystrophy of the cones and sticks amelogenese imperfect
Dystrophy of the cones, related to X
pure macular Dystrophy
recessive autosomic Dystrophy muscular, related to a bulleuse épidermolyse
congenital muscular Dystrophy with deficit in intégrine
congenital muscular Dystrophy with deficit in mérosine
muscular Dystrophy congenital cataract hypogonadism
congenital muscular Dystrophy, without deficit in mérosine
congenital, standard muscular Dystrophy 1C
muscular Dystrophy of Duchenne and Becker
muscular Dystrophy of Emery-Dreifuss, dominant
muscular Dystrophy of Emery-Dreifuss, related to X
muscular of Emery-Dreifuss, recessive Dystrophy
muscular Dystrophy belts
muscular Dystrophy of the belts autosomic dominant with cardiac, standard attack 1B, related to the 1
muscular Dystrophy of the belts autosomic dominant with deficit in cavéoline, standard 1C
muscular Dystrophy of the belts autosomic dominant, standard 1A, related to the 5
muscular Dystrophy of the belts autosomic dominant, standard 1D
muscular Dystrophy of the belts autosomic dominant, standard 1E
muscular Dystrophy of the belts autosomic dominant, standard 1F
muscular Dystrophy of the belts autosomic dominant, standard 1G
muscular Dystrophy of the belts with deficit in muscular alpha-sarcoglycane
Dystrophy of the belts with deficit in muscular beta-sarcoglycane
Dystrophy of belts with deficit in muscular delta-sarcoglycane
Dystrophy of the belts with deficit in muscular gamma-sarcoglycane
Dystrophy of the belts 2A type, standard Erb
muscular Dystrophy of the belts 2B type, standard Miyoshi, related to the 2
muscular Dystrophy of the belts muscular type 2G
Dystrophy of the belts type 2:00, standard Hutterite
muscular Dystrophy of the belts muscular type 2I
Dystrophy facio-scapulo-humérale (FSH)
muscular Dystrophy oculo gastrointestinale
oculo-pharyngée muscular Dystrophy
muscular Dystrophy standard Fukuyama
myotonic Dystrophy of Steinert
myotonic Dystrophy proximale
myotonic Dystrophy, type 1
myotonic Dystrophy, type 2
infantile Dystrophy neuroaxonale (DNAI)
late Dystrophy neuroaxonale
retinal Dystrophy in honeycomb
muscular Dystrophies of the belts (generic term)
thoracic Dystrophy asphyxiating of the thrombocytic newborn
Dystrophy hémorragipare
Dystrophy vitelliforme
Dystrophinopathie

E

Eales, disease of
Ebola, disease with virus
Ebstein, anomaly of
alveolar Echinococcose
Ecp syndrome
Ectopie of the crystalline lens chorioretine dystrophy myopia
Ectopie of the crystalline lens forms family
Ectrodactylie cardiopathy dysmorphie
Ectrodactylie ectodermal dysplasy
Ectrodactylism-dysplasie ectodermal-slit labiopalatine
Ectrodactylie palatine slit
Ectrodactylie diaphragmatic hernia callous body sterility
Ectrodactylie spastic paraplegia backwardness
Ectrodactylie polydactyly
Ectrodactylie spina bifida cardiopathy
lower Ectropion slit labiopalatine
Eczema-thrombocytopenia-immunodéficience
Edinburgh syndrome
Edwards patton dilly syndrome of
EEC syndrome
Eec syndrome without slit labiopalatine
Eem syndrome
standard Ehlers-Danlos arthro-chalasic, syndrome of
standard Ehlers-Danlos traditional, syndrome of
standard Ehlers-Danlos cypho-scoliotic, standard syndrome of
Ehlers-Danlos dermato-sparaxis, standard syndrome of
Ehlers-Danlos hypermobile, syndrome of
standard Ehlers-Danlos vascular, syndrome of
Ehrlichiose
Electron Transfer Flavoprotéine, deficit in
Electron Transfer Flavoprotéine Ubiquinone Oxydoréductase, deficit in
Elejalde, syndrome of
Elliott ludman teebi hereditary syndrome of
Elliptocytose
Ellis-Van Creveld, syndrome of
Ellis yale winter syndrome
Email hypoplasy cataract hydrocephalie
renal Email syndrome of
Embryofœtopathie with the acitrétine
Embryofœtopathie with cocaine
Embryofœtopathie with the aminoptérine
Embryofœtopathie with the rubeolic indometacine
Embryofœtopathie with the diéthylstilbestrol
Embryofœtopathie with the méthimazole
Embryofœtopathie
Embryopathie with cytomegalovirus
Embryopathie with the valproïque acid
Embryopathie with the diphénylhydantoïne
Embryopathie with thalidomide
Embryopathie with the trimethadione
Embryopathie with warfarin
alcoholic Embryopathie
Embryopathy with the isotrétinoine
Embryopathie with parvovirus
Embryopathie with the methyl mercury
Embryopathie with the minoxidil
Embryopathie with phenobarbital
Embryopathie with toluene
Embryopathie with the virus of hyperphenylalaninemic chicken pox
Embryopathie with the entérovirus
Embryopathie diabetic
Embryopathie herpetic
Embryopathie
Embryopathie by phenylcetonuric infection with the toxoplasme
Embryopathie
Emerinopathie
Emery nelson syndrome D
Emphysema-anomaly mental genital-deafness-delay
congenital Emphysema lobaire
Encéphalite with ticks
Encéphalite herpetic focal distance of Rasmussen
Encéphalite
former Encephalocele
frontal Encephalocele
Encephalomyopathie mitochondriale aminoacidopathy
Encéphalomyopathie necrosing subacute
Encephalopathie intracerebral calcification retinal degeneration
early Encéphalopathie infantile epileptic
ethylmalonic Encéphalopathie
Encephalopathy-ganglion early basal-calcification
myoclonic Encephalopathie
Encéphalopathie myo-neuro-gastrointestinale
progressive Encephalopathie atrophies optical
infantile recurring Encephalopathie
subacute spongiform Encéphalopathie standard Gerstmann-Straussler
transmissible spongiform Encéphalopathies (generic term)
Enchondromatose
Enchondromatose nanism deafness
Engelhard yatsiv syndrome of
Eng strom syndrome D
Enolase, deficit in
Entérovirus, infection anténatale with the
Envenimation by bothrops lanceolatus
Envenimation by the spearhead viper
bifunctional Enzyme, deficit in
connecting Enzyme, deficit in
disconnecting Enzyme, deficit in
Shoulder and thorax malformation congenital cardiopathy
Ependymome
Epidermodysplasie verruciforme of Lutz-Lewandowsky
Epidermolyse bulleuse acquired
Epidermolyse bulleuse dermolytic
Epidermolyse bulleuse intraepidermic
Epidermolyse bulleuse jonctionnelle
Epilepsy-absences of the child
Epilepsy with central-temporal points
Epilepsy with occipital points
Epilepsy with myoclono-astatic crises
Epilepsy-calcifications cœliaque occipital-disease
imperfect Epilepsy-insanity-amélogenèse
Epilepsy mental deterioration Finnish type
Epilepsy generalized with feverish convulsions more (GEFS+)
family benign infantile Epilepsy
skeletal Epilepsy-microcephalus-dysplasie
myoclonic Epilepsy with red fibers in scraps
myoclonic Epilepsy with “ragged-red-fibers”
youthful myoclonic Epilepsy
standard progressive myoclonic Epilepsy 1
standard progressive myoclonic Epilepsy 2
progressive myoclonic Epilepsy standard Unverricht-Lundborg
severe myoclonic Epilepsy of the infant
benign Epilepsy néonatale
Scandinavian Epilepsy
family partial Epilepsy
migrant partial Epilepsy
pyridoxino-dependant Epilepsy
Epilepsy genetic reflex
family rolandic Epilepsy
Epilepsy telangiectasy
Epiphyses punctuated osteoclastic hyperplasy syndrome
Epstein, syndrome of
Exhaustion chronic by immunizing dysfunction, syndrome of
Erdheim-Chester, disease of
Erdheim, disease of
Eronen to summon gustafsson syndrome of
winter Erythème keratolytic
nodular Erythemes digital anomalies
Erythroblastopénie
Erythrodermie congenital ichtyosiforme bulleuse
Erythrodermie congenital ichtyosiforme dries
Erythrodermie congenital lethal
Erythrodermie desquamative of Leiner-Moussous
Erythrokeratodermie ataxia
Erythrokératodermie progressive and symmetrical of variable Gottron
Erythrokératodermie of Mendes da Costa
primary education Erythromelalgie family
Escher hort syndrome of
Esters of cholesterol, disease of storage in
Esthésioneuroblastome
Ethylene glycol, intoxication by the
family Eunuchoidisme
Evans syndrome
Ewing, sarcome of
apparent Excess mineralocorticoid
Exner, syndrome of
Exostoses anetodermy brachydactylie standard E
Exostoses multiples, disease of the
Extrasystoles small size hyperpigmentation microcephalus
ventricular Extrasystoles perodactylie sequence of Robin

F

Fabry, disease of
Face anomalies osseous arthrogrypose old advances
fixed Face deafness polydactyly
Face grossiere hypotonia constipation
Face punt microstomy ear anomaly
Faces syndrome
Facial dysmorphism macrocephaly myopia dandy Walker
Faciès sulky person, syndrome of the
Facio cardio melic syndrome
Facio cardio renal syndrome
Facio-digito-genital syndrome, related to X
Facio digito genital syndrome recessive
Facio oculo acoustico renal syndrome
Facio thoraco genital syndrome
Facteur Hageman, deficit congenital in
Facteur II, deficit acquired in
Facteur II, congenital deficit in
intrinsic Factor, congenital deficit in
peptide Growth factors deficit in
Stuart Factor, congenital deficit in
Factors V and VIII, deficit combined in
Factor V, congenital deficit in
Factor VII, congenital deficit in
Factor X, congenital deficit in
Factor XI, congenital deficit in
Factor XII, congenital deficit in
Factor XIII, congenital deficit in
Fahr syndrome of
Family rectal bread
Fanconi bickel syndrome
Fanconi, hereditary, primitive, disease of
Fanconi, pancytopénie of
Fanconi, renal, with néphrocalcinose and renal calculi, syndrome of
Fara chlupackova syndrome of
Farber, disease of
Fasciite with eosinophilic
FAS, deficit in
chronic Tiredness, syndrome of
Favism
Faye petersen ward carey syndrome of
Fazio-Londe, disease of
Fechtner, syndrome of
Feigenbaum Bergeron syndrome of
Feingold, syndrome of
Felty, syndrome of
Feminization testiculaire, syndrome of
Femur bifide ectrodactylism monodactyle
short Femur dysmorphie facial
labial Slit with or without slit palatine
median labial Slit colobome eyelid retinal degeneration
median labial Slit callous body lipome cutaneous polyps
labial Slit retinopathy
Slit labio palatine cardiopathy intestinal malrotation
palatine Slit labio ectropion of the eyelid conical teeth
Slit labiopalatine-dents of the lower lip
Slit labio palatine malrotation cardiopathy
palatine Slit labio corneal opacities backwardness
palatine Slit labio inches anomaly microcephalus
Slit labio palatine deafness lipome sacring
dominant Slit laryngee
Slit laryngo tracheo œsophagienne pulmonary hypoplasy
Slit malformation of the heart of the members
median Slit of the lower lip
Slit narinaire telecanthus
palatine Slit
palatine Slit cardiopathy ectrodactylism
palatine Slit carpotarsales anomalies oligodontie
palatine Slit colobome deafness
palatine Slit large ears small size
palatine Slit small size vertebrae anomalies
palatine Slit synechies side syndrome
Ferlini ragno calzolari syndrome
Ferrocalcinose cerebrovasculaire
Ffu syndrome
FG syndrome
Muscle fibers congenital disproportion
family auricular Fibrillation
idiopathic ventricular Fibrillation
Fibrinogen, congenital deficit in
Fibrochondrogenèse
muscular Fibrodysplasie arterial
Fibrodysplasie ossifying progressive
Fibroélastose endomyocardic
Fibrofolliculome with trichodiscome and let us acrochordons
malignant Fibrohistiocytome
Fibromatose aggressive
Fibromatose gingival with dominant transmission
Fibromatose gingival dysmorphie facial
Fibromatose gingival hepatosplenomegalie other anomalies
Fibromatose gingival hypertrichose
Fibromatose gingival deafness
youthful Fibromatose hyaline
Fibromyalgie
Fibrosarcome
congenital Fibrosis of the muscles oculo-engines
hepatic Fibrosis renal cysts backwardness
idiopathic diffuse interstitial Fibrosis
cystic Fibrosis of the pancreas
idiopathic pulmonary Fibrosis
Fibrosis rétropéritonéale
Fiessinger-Leroy-Reiter, syndrome of
Fever with arbovirus
Fever with hantavirus
Fever caused by the bites of hemorrhagic rat
Fever with renal syndrome
viral hemorrhagic Fever
family Mediterranean Fever
Fever periodical-stomatitis aphthous-pharyngitis-adenopathy, syndrome
Recurrent fever, standard Marshall
recurring Fever with hyper-IgD
lymphatic Filariose
Filariose S (generic term)
Filippi syndrome of
Fine lubinsky syndrome of
Finlay markes syndrome of
Fish-odor syndrome
pulmonary Dent aorta-artery
cerebral arteriovenous Dent
pulmonary arteriovenous Dent
congenital Dent bronchobiliaire
Dent tracheo phagienne hypospadias
Fitzsimmons-Guilbert, syndrome of
Fitzsimmons-McLachlan-Gilbert, syndrome of
Fitzsimmons walson mellor syndrome of
Floating harbor syndrome
auricular Flutter idiopathic of the newborn
Flynn aird syndrome of
Fetus Harlequin, syndrome of the
Folliculite décalvante of Quinquaud
Folliculite dissecting of the scalp
Folliculite depilating of Forest Quinquaud
, disease of
Forney robinson pascoe syndrome of
Fountain syndrome of
Fragilité osseous-diminish articular
osseous-craniosynostose-proptose-hydrocéphalie Fragilité
Fragoso cid garcia hernandez syndrome of
François dyscephalic syndrome of
Frarek bocker kahlen syndrome of
Fraser jequier chen syndrome
Fraser like syndrome
Fraser, syndrome of
Frasier, syndrome of
FRA-X syndrome
Freeman Sheldon, syndrome of
Freire maia pinheiro opitz syndrome of
Freire maia Russian syndrome of
Frenkel syndrome of
Friedreich, ataxia of
Frieman Goodman syndrome of
Froster huch syndrome of
Froster iskenius waterson syndrome of
Fructokinase, deficit in
Fructose-1,6 diphosphatase, deficit in
Fructose-1-phosphate aldolase, hereditary deficit in
Fructose, congenital intolerance with the
Fructosémie
Fructosurie essential
Frydman cohen karmon syndrome
Fryns-Aftimos, syndrome of
Fryns dereymacker haegeman syndrome of
Fryns hofkens fabry syndrome of
Fryns, syndrome of
FSH, deficit isolated in
Fucosidose
Fuhrman rieger from sousa capillary syndrome from
Escape, syndrome of
Fukuda miyanomae nakata syndrome of
Fumarase, deficit in
Fumaryl acéto-acétase, deficit in
Fundus albipunctatus
Furlong kurczcynski hennessy syndrome of
Furukawa takagi nakao syndrome of
Fusion of the cervical vertebrae
splenogonadic Fusion members transverse anomaly
vertebral Fusions blepharoptosis

G

G6PD, deficit in
Gaba transaminase deficit in
Galactocérébrosidase, deficit in
Galactosamine-6-sulfatase, deficit in
Galactosémie
Galactosialidose
Galloway syndrome of
Gamborg nielsen syndrome of
Range friedman aminobutyric paradice syndrome of
Gamma acid transaminase deficit in
Gamma-cystathionase, deficit in
Gamma-glutamylcystéine synthétase, deficit in
Gamma-glutamyl transpeptidase, deficit in
Gamma-sarcoglycanopathie
GAMT, deficit in
Gangliosidose with GM1
Gangliosidose with GM2, variable O
Gapo syndrome of
Gardner silengo wachtel syndrome of
Gardner, syndrome of
Garret trip hypertrophic syndrome of
Gastrite eosinophilic giantess
Gastro enterite
Gastroschisis
Left-handed person-like, disease of
Left-handed, Gay disease of
feinmesser cohen syndrome of
Gélineau, disease of
Gemss syndrome
Genoa syndrome of
Géniospasme
Genital anomaly cardiomyopathy
Genito palato cardiac syndrome
Génodermatose scléroatrophiante keratodermic of the ends of Huriez
Gerhardt syndrome of
German syndrome of
Gerodermie osteodysplastic
Gershonibaruch leibo syndrome
Gerstmann-Straussler-Scheinker, syndrome of
Ghosal syndrome of
cerebral Gigantism
standard cerebral Gigantism nevo
Gigantism partial-hémihypertrophie-macrocephaly
Gilbert, syndrome of
Gilles of Tourette, prominent disease of
Gillespie, syndrome of
Gitelman, syndrome of
Glabelle microcephalus small size
Glass chapman hockley syndrome of
Glastre cochat herdsman syndrome of
congenital Glaucome of Peters
Glaucome articular ectopia spherophakie stiffness small size
hereditary Glaucome
Glaucome by iridogoniodysgenesy
Glaucome pauses respiratory syndrome
Glioblastome
Gliome of the optical ways
Glomérulonéphrite mésangiocapillaire
Glomerulopathie hypotrichie telangiectasies
segmentary focal distance, family Glomérulosclérose
Glucocérébrosidase, deficit in
Glucocorticoïdes, family deficit isolated in
Glucose-6-phosphatase, deficit in
Glucose-6-phosphate déshydrogénase, deficit in
Glucose-6-phosphate translocase, deficit in
Glucose-galactose, malabsorption of the
Glut 2 deficit in
Glutamate-aspartate, defect of transport of the
Glutamate-cystein ligase, deficit in
Glutamate decarboxylase deficit
Glutamate formiminotransférase, deficit in
Glutaryl-CoA déshydrogénase, deficit in
Glutaryl-CoA oxydase, deficit in
Glutathion synthétase, deficit in
Gluten, intolerance with the
Glycéraldehyde-3-phosphate déshydrogénase, deficit in
Glycerol-kinase, deficit in
Glycinémie with ketosis
Glycine synthase, deficit in
Glycogen synthétase hepatic, deficit in
Glycogenose of bickel fanconi
Glycogénose due to the deficit in hepatorenal LAMP-2
Glycogénose
Glycogénose lysosomale with normal acid maltase activity
standard Glycogénose 0
standard Glycogénose 1
standard Glycogénose 2
standard Glycogénose 3
standard Glycogénose 4
standard Glycogénose 5
standard Glycogénose 6A, by deficit in phosphorylase hepatic kinase
standard Glycogénose 6B, by hepatic deficit in phosphorylase
standard Glycogénose 7
Glycoprotéines defective in, syndrome carbohydrates of the
GM2-gangliosidose, variable B, B1, AB
Gms syndrome
cystic Goiter multinodulaire kidney polydactyly
Goiter-deafness
Golabi-Rosen, syndrome of
Goldberg, syndrome of
Goldblatt viljoen syndrome of
Goldblatt wallis syndrome of
Goldenhar, syndrome of
Goldmann-Favre, syndrome of
Goldstein hutt syndrome of
Gollop syndrome of
Gollop Wolfgang syndrome of
Goltz, syndrome of
Gombo syndrome
Gonadotropine family deficiency
Goniodysgenesie backwardness small size
Gonzales LED angel syndrome of
Goodpasture, pneumo-renal syndrome of
Gordon, syndrome of
hairy Throat syndrome
Gorham-Stout disease of
Gorlin bushkell jensen syndrome of
Gorlin chaudry moss syndrome of
Gorlin, syndrome of
Gougerot-Sjögren, syndrome of
GRACILE, syndrome
Graham boyle troxell Large syndrome of
kaine fulling syndrome of
Grant syndrome of
Granulations laryngees and eyepieces in the Indian children
Granulomatose with cells of Langerhans
chronic Granulomatose
Granulomatose lipophagic intestinal
Granulome chalazodermic
Graft against the host, disease of the
Gregersen petersen syndrome
Greig, syndrome of
Claws of the cat, disease of the
Griscelli, Large disease of
Groll hirschowitz syndrome of
syndrome of
Grubben of cock borghgraef syndrome
G syndrome
GTP cyclohydrolase, deficit in
Guanidinoacétate méthyltransférase, deficit in
Guillain-Barred, syndrome of
Guizar vasquez luengas syndrome
Gunal seber basaran syndrome of
Gupta patton syndrome of
Gurrieri sammito bellussi syndrome of
Gusher, syndrome of

H

Haas to chir robinson syndrome of
Hagemoser weinstein bresnick syndrome of
HAIRAN syndrome
Hajdu cheney syndrome of
Halal setton wang syndrome of
Hall berg rudolph syndrome of
Hallermann streiff François syndrome of
Hallermann streiff like syndrome
Hallervorden-Spatz, syndrome of
Hall riggs syndrome of with backwardness
Hallux varus polysyndactylie preaxiale
Hamanishi ueba tsuji syndrome of
Hamann zankl schimrigk syndrome of
Hamartoblastome hypothalamique-polydactyly
lymphoid Hamartome
Hamartome sébacé of Jadassohn
Hamartomes hypothalamic
Hamartomes multiples
Hip standard dysplasy beukes
Hanot, syndrome of
Hantavirose
Hapnes boman skeie syndrome of
HARDWARE syndrome
Harrod doman keele syndrome of
Harrod syndrome of
Hartnup, disease of
Haspelagh fryns muelenaere syndrome of
Hawkinsinurie
Hay wells syndrome
Hecht beals syndrome of
Hecht scott syndrome
Hec syndrome
Helmerhorst heaton crossen syndrome of
hypertrophic Hémangiectasie
Hémangiomes facial pseudo umbilical scar known
Hémangiomes crowned multiple congenital anomalies
Hémangiome thrombocytopenia syndrome
Hémangiopéricytome
HEM dysplasy
essential congenital Hemeralopia
Hemi 3 syndrome
Hémidysplasie congenital with erythrodermy ichtyosiforme and anomalies of the members
Hemihypertrophie
Hemimelie tibiale alternating slit labiopalatine
Hémiplégie
Hémochromatose family
Hémochromatose néonatale
Hémoglobinose C
Hémoglobinose E
paroxystic Hémoglobinurie night
Haemolytic and uremic syndrome, atypical form
Hemophilia
Hennekam beemer syndrome
Hennekam syndrome of
Héparane sulfamidase, deficit in
autoimmune chronic Hepatitis
fulminant Viral hepatitis
Hépatoblastome
Hépatocarcinome
Hérédopathie ataxic polynevritic
true Hermaphrodisme xx
Hernandez fragoso diaphragmatic syndrome of
Hernia
diaphragmatic Hernia anomaly of the members
diaphragmatic Hernia radial aplasia omphalocele
Hernia abnormal diaphragmatic-facies
diaphragmatic Hernia omphalocele callous body sterility
cutaneous Herpes repeating and dilapidating idiopathic
Herpes simplex, neuroinvasion of the virus
Herpes virus, infection anténatale with the
Herrmann opitz craniosynostose
Herva, progressive disease of
Hétéroplasie osseous
Hétérotaxie of dominant autosomic transmission
Hétérotaxie related to X
Hétérotaxies (generic term)
Hexosaminidase has, deficit in
Hexosaminidases has and B, deficit in
Hidradénite suppurée
Hinson-Pepys, disease of
Hirschsprung brachydactylie
Hirschsprung, disease of
Hirschsprung nails hypoplasy dysmorphie
Hirschsprung polydactyly deafness
mental Hirschsprung-delay, syndrome
Hirsutisme skeletal dysplasy backwardness
Hirsutisme gingival hyperplasy
Histidase, deficit in
Histidinémie
Histidinurie renal
pulmonary Histiocytose langerhansienne
Histiocytose langerhansienne of the adult
Histiocytose X
Histoplasmose
Hmc syndrome
HM syndrome
HNPCC
Hodgkin, disease of
Hoepffner dreyer reimers syndrome of
Holmes benacerraf syndrome
Holmes hakes syndrome
Holmes gang syndrome of
Holmes spencer borden syndrome of
Holoprosencéphalie
Holoprosencephalie renal cardiac radial anomalies
Holoprosencephalie craniosynostose
Holoprosencephalie deletion 2p
Holoprosencephalie axial polydactyly post
Holt-Oram, syndrome of
Holzgreve Wagner rehder syndrome of
Man of stone, disease of the
Man XX, syndrome
Homocarnosinase, deficit in
traditional Homocarnosinose
Homocystinurie by deficit in cystathionine beta-synthase
Homocystinurie by disorders of the remethylation (cbl E)
Homocystinurie by disorders of the remethylation (cbl G)
Homocystinurie by disorders of the remethylation, deficit in MTHFR
Homogentisicase, deficit in
chronic Hoquet
Hordnes engebretsen knudtzon hypophyseal syndrome of
Hormone, multiple deficit in
Horton, disease of
Houlston iraggori murday syndrome of
Houlston ironton temple syndrome of
Hoyeraal hreidarsson syndrome of
Hoyeraal syndrome of
Hunter jurenka Thompson syndrome of
Hunter, disease of
Hunter mcalpine syndrome of
Hunter mcdonald syndrome of
Hunter rudd Hoffmann syndrome of
Hunter thomson reed syndrome of
Huntington, disease of
To howl, syndrome of
To howl, pseudo-polydystrophie of
Hurst hallam hockey syndrome of
Hutchinson-Gilford, systemic syndrome of
Hyalinose lethal small size
fistulo-vegetating Hydatidose
warted Hydradénome
Hydranencephalie
Hydrocéphalie dysplasy costovertebrale sprengel anomaly of
Hydrocéphalie palatine slit articular stiffness
Hydrocéphalie fibroelastoses cataract
Hydrocéphalie big autosomic size hyperlaxite
Hydrocéphalie related to X
Hydrocéphalie recessive
sclerotic Hydrocéphalie blue nephropathy
Hydrocéphalie skeleton anomalies
Hydrolethalus syndrome
Hydrometrocolpos congenital polydactyly
Hydronéphrose
Hydronéphrose facial expression particuliere
cystic Hydrops fetalis
Hygroma
standard family Hyperaldostéronisme 1
standard family Hyperaldostéronisme 2
Hyperaminoacidurie dicarboxylic
standard Hyperandrogénie-insulino-resistance-acanthosis nigricans
Hyperbilirubinémie 1
standard Hyperbilirubinémie 2
standard Hyperbilirubinémie Rotor
Hypercalcémie family benign
Hypercalcémie hypocalciuric family
Hypercalciurie colobome of the family retina
Hypercalciurie idiopathic
Hypercholestérolémie
Hypercholestérolémie by defect of receiver LDL
Hypercholestérolémie by Arg3500 change of Apo B-100
Family Hyperchylomicronemy
Hyperekplexie
Hyperéosinophilique idiopathic, syndrome
Hyperglycérolémie
Hyperglycinémie without ketosis
Hyper-IgD, syndrome
Hyper-IgM syndrome, related to X
Hyper-IgM syndrome, recessive standard autosomic
Hyperimidodipeptidurie
Hyperimmunoglobulinémie D with recurrent fever
Hyperimmunoglobulinémie E
Hyperimmunoglobulinémie E-syndrome of recurring infection
congenital Hyperinsulinisme of the child
Hyperinsulinisme and hyperammoniemy, syndrome of
Hyperkaliémie-hypertension, Gordon syndrome
Hyperkératose epidermolytic
Hyperkératose palmoplantaire acanthokeratolytic
Hyperkératose palmoplantaire epidermolytic
Hyperkératose palmoplantaire and gingival
plantar Hyperkeratose palmo spasticite
Hyperkeratose palmo plantar deafness
Hyperkeratosis lenticularis perstans of Flegel
Hyperlipidémie family combined
standard Hyperlipoprotéinémie 1 and type 5
Hyperlipoprotéinémie standard 3
standard Hyperlipoprotéinémie 4
Hyperlysinémie
Hyperornithinémie
Hyperornithinémie-hyperammoniémie-homocitrullinurie
Hyperostose cortical deforming youthful
Hyperostose cortical generalisee
infantile Hyperostose cortical
Hyperostose cortical syndactylie
standard Hyperostose endosteale worth
Hyperostose generalisee striee
Hyperostose vertebral ankylosante
Hyperoxalurie
Hyperparathyroïdie family primitive
Hyperparathyroïdie primitive néonatale
Hyperphénylalaninémie related to the deficit in 6-pyruvoyl-tétrahydroptérine synthase
Hyperphénylalaninémie related to the deficit in déhydratase
Hyperphénylalaninémie related to the deficit in dihydroptéridine réductase
Hyperphénylalaninémie related to the deficit in GTP cyclohydrolase
Hyperphénylalaninémie related to the deficit in pterin-4-alpha-carbinolamine déhydratase
Hyperphénylalaninémie congenital nursery school
Hyperpipécolatémie
Hyperplasie of the suprarenals
ganglionic Hyperplasie angiofolliculaire
Hyperplasie hemifaciale strabism
nodular Hyperplasie regenerative
Hyperprolinémie
Hypersomnie idiopathic
Hypertelorisme hypospadias polysyndactylie
Hypertelorisme hypospadias syndrome
Hypertelorisme microtie facial slit
essential arterial Hypertension
family arterial Hypertension
primitive pulmonary arterial Hypertension
family hyperkaliemic Hypertension
family hypokaliemic Hypertension
hypokaliemic, recessive Hypertension
infrahepatic Hypertension portale per block
Hypertension sensitive to the dexaméthasone
Hypertension sensitive to the glucocorticoïdes
malignant Hyperthermie
malignant Hyperthermie arthrogrypose stiff neck
Hyperthyroïdie family by change of the receiver of the left TSH
ventricular Hypertrabeculation
Hypertrichose cervical cubital neuropathy
Hypertrichose dependant small size
Hypertrichose generalisee has L X
Hypertrichose lanuginous acquired
Hypertrichose lanuginous congenital
Hypertrichose skin atrophies ectropion congenital macrostomia
Hypertrichose universal
gingival Hypertrophie corneal dystrophy
Hypertryptophanémie family
Hypoadrenocorticisme hypoparathyroidism moniliase
congenital Hypoaldostéronisme
Hypoalphalipoprotéinémie family
Hypo-alphalipoprotéinémies (generic term)
Hypobêtalipoprotéinémie family
Hypobêtalipoprotéinémies (generic term)
Hypocalcémie autosomic dominant
Hypochondroplasie
Hypodontie
Hypodontie family disgenesis ungueale
Hypofibrinogénémie
Hypogonadisme cardiomyopathy
Hypogonadisme cataract
congenital Hypogonadisme with ichtyose
Hypogonadisme hypogonadotrophic
Hypogonadisme hypogonadotrophic alopecie
Hypogonadisme hypogonadotrophic by change of the receiver of the gonadolibérine, GnRH
Hypogonadisme binds has L X gynecomastie backwardness
primary education Hypogonadisme alopecie partial
Hypogonadisme backwardness skeleton anomalies
Hypogonadisme pigmentary retinite
Hypomagnésémie with hypocalciurie
Hypomagnésémie with normocalciurie
Hypomagnésémie hypercalciurie family
Hypomagnésémie intestinal with secondary hypocalcemy
Hypomagnésémie by selective magnesium malabsorption
primary education Hypomagnésémie family (generic term)
Hypomélanose de Ito
Hypoparathyroïdie auto-immune
mental-dysmorphie Hypoparathyroïdie-delay
Hypoparathyroïdie-deafness-nephropathy
family Hypoparathyroidisme insulates
Hypoparathyroidisme binds has L X
Hypoparathyroïdisme-small size-delay mental-convulsions
intestinal-microcôlon-hydronéphrose Hypopéristaltisme
Hypophosphatasie
standard Hypopigmentation oculocerebral syndrome cross-country race
Hypopigmentation-deafness
family Hypopituitarisme
Hypopituitarisme microphtalmy
Hypopituitarisme axial polydactyly post
Hypoplasie " cartilage-cheveux"
Hypoplasie cerebelleuse degeneration tapetoretinienne
Hypoplasie congenital of the suprarenals, related to X
Hypoplasie dermic in surfaces
Hypoplasie of the cells of Leydig
Hypoplasie of the left heart
Hypoplasie of the ulna backwardness
Hypoplasie of the nose hypogonadism
Hypoplasie of the fibula and the ulna, with brachydactylie
Hypoplasie of the inch alopecie pigmentation foveal anomaly
Hypoplasie of the radius inches triphalanges hypospadias progenie
Hypoplasie cataract pre senile
Hypoplasie hematopoietic generalized
Hypoplasie olivopontocerebelleuse lethal
pancreatic Hypoplasie diabetes cardiopathy
Hypoplasie fibula ulna renal anomalies
pulmonary Hypoplasie family primitive
Hypoplasie renal oligomeganephronic
ventricular Hypoplasie isolated right-hand side
Hypoproconvertinémie
Hypoprotéinémie hypercatabolic
Hypoprothrombinémie
Hypoprothrombinémie acquired
Hypospadias-dysphagie, syndrome
Hypospadias, family form
Hypospadias périnéoscrotal pseudovaginal
standard Hypospadias backwardness goldblatt
Hypotelorisme palatine slit hypospadias
idiopathic orthostatic Hypotension
spontaneous periodic Hypothermia
Hypothyroïdie congenital
Hypothyroïdie congenital by insufficiency/excess of contribution out of iodine
Hypothyroidie palatine slit
milliary Hypotrichose congenital
hereditary Hypotrichose of Marie Unna
Hypotrichose simple
alveolar Hypoventilation congenital power station
Hypoxanthine guanine phosphoribosyltransférase, deficit in

I

IBIDS syndrome
ICCA syndrome
Ice syndrome
ICF syndrome
Ichtyose alopecie backwardness ectropion
Ichtyose biliary atresy
Ichtyose with trichothiodystrophie
Ichtyose bulleuse of Siemens
Ichtyose congenital, autosomic recessive
Ichtyose congenital standard baby collodion
Ichtyose congenital standard fetus Harlequin
Ichtyose de Curth-Macklin
Ichtyose spindle-shaped fingers median labial furrow
Ichtyose exfoliative
follicular Ichtyose atrichie photophobia syndrome
Ichtyose hepatosplenomegalie cerebelleuse degeneration
male Ichtyose hypogonadism
Ichtyose keratitis deafness
lamellate Ichtyose
Ichtyose related to X
Ichtyose backwardness nanism renal anomaly
asymptomatic Ichtyose backwardness spasticite
standard Ichtyose backwardness devriendt
Iduronate 2-sulfatase, deficit in
Ifap syndrome
IGDA syndrome
It syndrome of
Ilyina amoashy grygory syndrome
Imaizumi kuroki syndrome of
Imerslund-Gräsbeck, disease of
Iminoglycinurie
Immotilité ciliaire, standard Kartagener
Immunodeficience primitive in cells T
bulleux Impétigo
Impossible syndrome
primitive basilaire Impression
higher central Incisor single
Incisors mandibulaires fusion
microvilleuses Inclusions disease of the
family Incompetence velopharyngienne
Incontinentia pigmenti
Incontinentia pigmenti achromians
congenital Incurvation long bones
serpentine Incurvation of the fibula
Indometacine, exposure anténatale to the
congenital Infection with the cytomegalovirus
Infection disseminated by the cytomegalovirus, idiopathic
idiopathic Infection by the BCG or atypical mycobacteries
cutaneous lymphocytary Infiltration of Inhibiting Jessner-Kanof
1 of the activator of plasminogene, congenital deficit in
Insensibility to the pain with anhydrose
family fatal Insomnia prion
articular Instability syndrome D
Instability centromérique-immunodéficience-dysmorphie
mitotic Instability not disjunction
antéhypophysaire Insufficiency of standard genetic cause
Insulino-resistance A-acanthosis nigricans
standard Insulino-resistance B
Interruption of the aortic stick
Internal atresies multiple
Intolerance with dibasic proteins with lysinurie
Intoxication with asbestos
Iridogoniodysgénésie, dominant form
Isaacs mertens syndrome of
Ischion hypoplasy kidney anomaly immunodeficience supernumerary polydactyly
Isochromosome 12p
Isochromosome 18p
Isotretinoine like syndrome
Isotrétinoine syndrome
Isovaléryl-CoA déshydrogénase, deficit in
Itin, syndrome of
Ivic syndrome D

J

Jabs houk bias syndrome of
Jackson barr syndrome of
Jackson-Weiss, syndrome of
Jacobsen, syndrome of
Jacobs syndrome of
Jadassohn-Lewandowsky, syndrome of
Jagel holmgren hofer syndrome of
Jalili syndrome of
Jambe hypoplasy cataract
Jancar syndrome of
Jankovic will rivet syndrome of
Jarcho-Levin, syndrome of
hyperbilirubinemic Jaunisse neonatale transitory
Jensen syndrome of
Jervell and Lange-Nielsen, syndrome of
Jeune, syndrome of
Job, syndrome of
Johansson-Blizzard, syndrome of
Johnson mcmillin syndrome of
Johnson munson syndrome of
Jones syndrome of
retinal Joubert with colobome, syndrome of
Joubert-Boltshauser, syndrome of
Juberg hayward syndrome of
Juberg-Marsidi, syndrome of

K

Kabuki, syndrome of
Kahler, disease of
Kaler garrity stern syndrome of
Kallin syndrome of
$kalman, syndrome of
Kaplan plauchu fitch syndrome of
Kapur toriello syndrome of
Karsck neugebauer syndrome of
Kartagener, syndrome of
Kasabach-merritt syndrome of
Kawasaki, disease of
Kawashima tsuji syndrome of
Kbg syndrome
Kearns-Sayre, syndrome of
Kennedy, disease of
Kennerknecht, syndrome of
Kenny caffey syndrome of
Kenny hereditary syndrome of
Keratitis
Keratitis-ichtyose-deafness, syndrome
family Kératoacanthome
Kératocône
Keratocone malformations associated
Kératodermie aïnhumoïde and mutilating
Kératodermie de Meleda
Keratodermie palmoplantaire adenocarcinomist colic
Kératodermie palmoplantaire with cardiomyopathy arythmogene
Kératodermie palmoplantaire with cysts with the eyelids, hypodontie and hypotrichose
Kératodermie palmoplantaire diffuses, standard Bothnian
Kératodermie palmoplantaire epidermolytic, standard Vorner
Keratodermie palmoplantaire and periorificielle of Olmsted
Keratodermie palmoplantaire and periorificielle mutilating
Kératodermie palmoplantaire papulous
Kératodermie palmoplantaire-periodontopathy
Keratodermie palmoplantaire periodontopathy onychogrypose
Kératodermie palmoplantaire striated or of bands
follicular Keratose nanism atrophies cerebral
follicular Kératose spinulosa decalvans of Siemens
Kérion de Celse
Khalifa graham syndrome of
KID syndrome
Kikuchi, disease of
Kimura, disease of
Kininogène of high molecular weight, congenital deficit in
“Kinky to hate” syndrome
Kinsbourne syndrome
Kleeblattschaedel syndrome of
Kleine-Levin, syndrome of
Kleiner holmes syndrome of
Klein-Waardenburg, syndrome of
Klinefelter, syndrome of
Klippel feil anomaly of deafness absence of vagina
Klippel feil syndrome
Klippel trenaunay weber syndrome of
Kniest, dysplasy of
Kniest like lethal dysplasy
Knobloch to bush-hammer syndrome of
Kohler disease of
Kohlschutter-Tonz, syndrome of
Kok disease of
Komar, syndrome of
Konisgsmark knox hussels syndrome of
Kopysc barczyk krol syndrome of
Korula Wilson Solomon syndrome of
Kostmann, syndrome of
Kosztolanyi syndrome of
Kousseff syndrome of
Kowarski, syndrome of
Kozlowski celermajer syndrome
Krabbe, disease of
Krasnow qazi syndrome of
Krieble bixler syndrome of
Kugelberg-Welander, disease of
KUMAR levick syndrome of
Kunze riehm syndrome of
Kurczynski casperson syndrome of
Kuskokwim disease of
Kuster majewski hammerstein syndrome of
Kuzniecky syndrome of
orbital Cyst arachnoidien
Cyst with cerebral malformations and dermic hypoplasy in surfaces
multiple Cysts sebaces
Cystic Cyst trichilemmal proliferating
of medullary, autosomic dominant, Cystic disease
of medullary, autosomic recessive, disease

L

Laband syndrome of
Lacrimo auriculo dento digital syndrome
Lactase, deficit in, congenital
muscular Lactate déshydrogénase, deficit in]]
Ladd, syndrome of
Lafora, disease of
Lagophtalmie palatine slit labio
Lambert-Eaton, syndrome myasthenic of
Lambert syndrome of
Landing, disease of
Landouzy-Dejerine, myopathy of
Langer-Giedion, syndrome of
Langer nishino yamaguchi syndrome of
Laparoschisis
Peyronie, syndrome of
Laplane fountain lagardere syndrome of
Larbish
Laron, syndrome of
Larsen like syndrome forms lethal
Larsen syndrome craniosynostose
Larsen, syndrome of
Larva migrans cutaneous
Laryngomalacie congenital dominant form
Laryngo onycho cutaneous syndrome
Larynx anomaly cardiopathy small size
Larynx paralysis backwardness
Lassueur-Graham-Little, syndrome of
Lateralite anomalies forms dominant
Lathostérolose
Laurence-Moon, syndrome of
Laurin sandrow syndrome of
Laxova brown hogan syndrome of
LCAT, deficit in
LCHAD, deficit in
Learman syndrome of
Leber, amaurose congenital of
Leber, hereditary optical neuropathy of
Lecithin-Cholesterol-Acyl-Transférase, deficit in
Lee root fenske syndrome of
Legg-Calve-Perthes, disease of
Légionellose
Lehman syndrome of
Leichtman-Wood-Rohn, syndrome of
Leigh to maternal heredity, syndrome of
Leigh, family disease of
Léïomyomatose
orbital Léiomyome
Leishmaniose
Leisti hollister rimoin, syndrome of
Lenègre, cardiomyopathic disease of
Lennox-Gastaut, syndrome of
Lentiginose
Lenz, microphtalmy of
Leopard, syndrome
Leprosy
Lepréchaunisme
Leptospirosis
Leri-Weill, syndrome of
Lesch-Nyhan, syndrome of
acute Leukemia lymphoblastic
megacaryoblastic acute Leukemia
monoblastic acute Leukemia
myeloblastic acute Leukemia with maturation
myeloblastic acute Leukemia without standard maturation
myeloblastic acute Leukemia 1
standard myeloblastic acute Leukemia 2
standard myeloblastic acute Leukemia 3
standard myeloblastic acute Leukemia 4
standard myeloblastic acute Leukemia 5
standard myeloblastic acute Leukemia 6
standard myeloblastic acute Leukemia 7
acute Leukemia myélomonocytaire
acute Leukemia promyélocytaire
Leukemia myéloïde chronic
acute Leukemias myéloïdes (generic term)
nonlymphoblastic acute Leukemias (generic term)
Leucinose
Leucodystrophie megalencephalic
Leucodystrophie metachromatic
Leucodystrophie réunionnaise
sclerosing Leucoencephalitis subacute
Leucoencéphalopathie with loss of white substance
Leucoencéphalopathie megalencephalic with sub-cortical cysts
Leuconychie cysts sebaces renal calculi
Leukomelanoderme backwardness hypotrichosis
Levic stefanovic nicolic, syndrome of
Levine-Critchley, syndrome of
Levin, syndrome
Levy hollister syndrome
Lewandowski kikolich syndrome of
Lewis-Sumner, syndrome of
Lhrh deficit in
bulleux Lichen
follicular Lichen
sclerous Lichen
Lichen scleroatrophic
Lichtenstein, syndrome of
Liddle, syndrome of
Li-Fraumeni, syndrome of
Ligament costocoracoide congenital shortening
Line of centers anomalies
Lindsay burn gastric syndrome
Linite
plastic Linite of the acid stomach
Lipase lysosomale, deficit in
Lipidose with triglyceride overload
Lipoamide déshydrogenase, deficit in (STABLE-LAD)
Lipodystrophie intestinal
Lipodystrophie - backwardness - deafness, syndrome
Lipodystrophie rieger anomaly diabetes
standard Lipodystrophie Berardinelli
Lipomatose benign
Lipomatose of the pancreas, congenital power station non-encapsulee
Lipomatose cervical family
Lipomatose encephalo cranio cutaneous
Lipomatose mesosomatic of Roch-Leri
symmetrical Lipomatose family
Lipomes naso palpebral colobome syndrome
Lipoprotein lipase, deficit in
Lipoprotéinose d' Urbach-Wiethe
Lisker garcia ramos syndrome of
Lison kornbrut feinstein syndrome of
Lissencéphalie with genital anomalies
Lissencéphalie, related to the chromosome 17
Lissencéphalie suitable for paving
Lissencéphalie (generic term)
standard Lissencéphalie 1, due to the anomalies of standard LILY 1
Lissencéphalie 1, due to the changes of double-cortine gene (DCX)
standard 1, unexplained Lissencéphalie
Lissencéphalie, type 1, related to X
standard Lissencéphalie 1, related to X, with sterility of the callous body
standard Lissencéphalie 2
xanthic Listeriosis
Lithiasis
LMNH
Loase
thick Ear lobe, deafness of conduction
Lobstein, disease of
Locked-in syndrome
Logic syndrome
Longman-Tolmie, syndrome of
Lopes gorlin, syndrome of
Lou-Gehrig, disease of
Louis-Bar, syndrome of
Lowe kohn cohen syndrome of
Lowe, syndrome of
Lowry maclean syndrome of
Lowry Wood syndrome of
Lowry yong syndrome of
Lubani Al saleh teebi syndrome
Lubinsky syndrome of
Lucey driscoll syndrome
Lujan-Fryns, syndrome of
Lupus family anticoagulant
cutaneous érythémateux Lupus
érythémateux Lupus disseminated
systemic érythémateux Lupus
Lutz richner landolt syndrome of
Luxation of the hip dysmorphie
Lyell, syndrome of
Lyme, standard disease of
Lymphangiectasies lymphoedeme hennekam
Lymphangioléïomyomatose
Lymphangiome
Lympho-cutanéo-mucous , syndrome
stripped Lymphocytes, syndrome of the
primary education congenital Lymphœdème
Lymphœdeme hypoparathyroidism
Lymphœdeme ptosis
eosinophilic Lymphogranulome
Lymphohistiocytose family
Lymphoma anaplasic with large cells
Lymphoma with small not cleaved cells
benign Lymphoma
primary education cerebral Lymphoma
cutaneous Lymphoma
Lymphoma of Burkitt
Lymphoma of the cavities
Lymphoma of Sézary
diffuse Lymphoma with large cells B
follicular Lymphoma
Lymphoma hodgkinien
Ki-1 Lymphoma
lymphoblastic Lymphoma
primitive pulmonary Lymphoma
malignant Lymphomas not Hodgkiniens (generic term)
Lymphoprolifératif with autoimmunity, syndrome
Lymphoproliférative, related to X, disease
Lysin alpha-cétoglutarate réductase, deficit in

M

Mac dermot patton Williams syndrome of
Mac dermot winter syndrome of
Jaw opening limitee small size epiphyses in cone
Macias flora garcia cruz syndrome of
Mackay shek carr syndrome of
dominant Macrocephaly
Macrocephaly members short deafness
Macrocephaly pigmentation anomalies ends large
Macrocephaly backwardness dysmorphie facial
Macroglossie dominant
Macropolyadénomatose surrénalienne
Macrosomia microphtalmy palatine slit
Macrosomia obesity macrocephaly ocular anomalies
Macrothrombocytopénie with leucocytic inclusions
Macrothrombocytopenie progressive deafness
congenital Maculae hypopigmentees hyperpigmentees
Madelung, deformation of
Madelung, disease of
Maffucci, syndrome of
Maghazaji syndrome of
split Hand and foot nystagmus
split Hand absence of tibia
split Hand uropathy spina bifida diaphragm anomaly
Hand foot uterus syndrome
Hands and feet deformation face facial punt
Hands and feet out of mirror anomalies of the nose
Hands and feet
Hands and feet dysostose mandibulo
Hands and feet hypoplasy mandibulaire
Malakoplakie
Malakoplasie
Badly of Meleda
Malformation adenomatoide of the lung
Malformation anorectale
cardiac Malformation conotroncale
cerebral cavernous Malformation
mitral Malformation congenital
intracranial venous Malformations arterio
family venous Malformations
Malonyl-CoA décarboxylase, deficit in
Malouf syndrome of
vascular Malposition
Malpuech demeocq palcoux syndrome of
Malrotation intestinal dysmorphie facial family type
acid Maltase, deficit in
family supernumerary Nipples
Mandibulo acrale Maniaco-depressive dysplasy
, disease (genetic forms)
Mansonellose
Marchiafava-Micheli, disease of
Marden Walker like syndrome
Marden Walker syndrome of
Marfanoide syndrome with craniosynostose
Marfanoide syndrome recessive standard backwardness
Marfan, syndrome of
Marinesco sjogren like syndrome of
Marinesco-Sjogren, syndrome of
Markel vikkula mulliken syndrome of
Marles greenberg persaud syndrome of
Maroteaux cohen solal bonaventure syndrome of
Maroteaux fonfria syndrome of
Maroteaux-Lamy, disease of
Maroteaux stanescu cousin syndrome of
Maroteaux verloes stanescu syndrome of
Marshall-Smith, syndrome of
Marshall, syndrome of
Marsolf syndrome of
MASSED syndrome
Mastocytose, small size, systemic deafness
Mastocytose
CHECHMATE, deficit in
Mathieu of broca bony syndrome of
Matthew Wood syndrome
Maumenee syndrome
MCAD, deficit in
Mcalister coe white syndrome of
Mc Ardle, disease of
McCune-Albright, syndrome of
Mcdonough syndrome of
Mcdowal syndrome of
Mckusick kaufman syndrome of
Mcpherson clemens syndrome of
Mcpherson robertson cammarano syndrome of
Meadows, syndrome of
MEB (Muscle-Eye-Brain) syndrome
white Wicks multiple anomalies
Médulloblastome
Mégaduodénum-mégavessie, syndrome
Megalencephalie family
cystic Mégalencéphalie-leucodystrophie
Megarbane - Loiselet, syndrome of
congenital Megaloureter
Meier blumberg imahorn syndrome of
pancreatic Mélanome-cancer, syndrome
Mélanome choroïdien
cutaneous, family malignant Mélanome
Melanose neurocutanee
INTERFERED syndrome
Mélioïdose
Melkersson rosenthal syndrome
Melnick-Needles, syndrome of
Melorhéostose
Membres anomaly cardiopathy
Membres anomalies micrognatism
Membres cranium scalp anomalies
Upper limb anomaly deficit oculoauriculaire
Upper limb hypoplasy anomalies mulleriennes
Ménétrier, disease of
Ménière, disease of
Méningiome
Méningite with méningocoque
Méningite with pneumococcus
Menkes, syndrome of
early Ménopause of origin genetics
Merlob grunebaum reisner syndrome of
MERRF syndrome
Mesomelie synostoses
Mesomelique dysplasy isolee of L before arm
Mesothelioma
Metacarpus 4 and 5 amalgamate
Métachondromatose
Metageria
Metaphysaire standard chondrodysplasy spahr
Metaphysaire dysostose backwardness deafness
Metaphysaire dysplasy hypertelorism hypospadias
Metaphysaire dysplasy hypoplasy jawbone brachydactylie
Méthanol, intoxication by the
Méthémoglobinémie congenital recessive
Méthimazole, infection anténatale with the
Méthionine synthase, deficit in
Methyl-cobalamine (cbl E), deficit in
Methyl-cobalamine (cbl G), deficit in
Méthylènetétrahydrofolate réductase, deficit in
Méthylmalonyl-coenzyme has mutase, deficit in
Methyl mercury exposure antenatale to the
Mévalonate kinase, deficit in
Michelin baby disease of the
Michels syndrome of
Micrencephalie olivopontocerebelleuse hypoplasy
Microbrachycephalie ptosis labial slit
Microcephalia will vera and microcephalus with model gyral simplified
Microcephalie albinism digital anomalies
autosomic Microcephalie dominating
Microcephalie intracranial calcifications
Microcephalie cardiomyopathy
Microcephalie cardiopathy pulmonary malsegmentation
Microcephalie rare hair backwardness epilepsy
Microcephalie retinal dysplasy chorio recessive type
Microcephalie vertebral cervical fusions
Microcephalie hypogammaglobulinemy abnormal immunity
small Microcephalie hypogonadism hypergonadotropic cut
Microcephalie cerebral hypoplasy spasticite
Microcephalie pontocerebelleuse hypoplasy dyskinesy
Microcephalus-immunodéficience-lymphoréticulome
Microcephalie lymphœdeme chorioretine dysplasy
Microcephalie lymphœdeme syndrome
Microcephalie microphtalmy blindness
Microcéphalie - oculo-digito-œsophago-duodénal, syndrome (MODED)
Microcéphalie - backwardness - dent trachéo-œsophagienne
Microcephalie backwardness spasticite epilepsy
Microcephalie deafness
Microcephalie syndactylie brachymesophalangie
nephrotic Microcephalie syndrome scleroses mesangiale
Microcorie congenital
Microdélétion 22q11
Microgastrie anomaly of the members
Microlissencéphalie
Microlissencéphalie - micromélie, syndrome
Micromelique dysplasy luxation of the radius
Microphtalmie
Microphtalmie-anomalies of the members
Microphtalmie dermic aplasia sclerocornee
Microphtalmie colobomateuse cataract
Microphtalmie
standard Microphtalmie Lenz
Microphthalmie backwardness
Microsomie hémifaciale
Microsomie hemifaciale radial anomalies
Microspherophakie dysplasy metaphysaire
Microsporidiose
Micro syndrome
Microtie
Microtie atresy of the meatus dominant deafness
Microtie skeleton anomalies small size
Midas syndrome
Mietens syndrome of
family hemiplegic Migraine
Mikati najjar sahli syndrome of
Miller syndrome of
MILLETS syndrome
Minkowski-Roadhog, disease of
Minoxidil exposure antenatale to the
congenital Miosis
Mirhosseini holmes Walton syndrome
Mitochondriales of nuclear origin, diseases
Mitochondriales, diseases (generic term)
Mls syndrome
MNGIE syndrome
MODY syndrome
Moebius, syndrome of
Moerman vandenberghe fryns syndrome
Moeschler claren syndrome of
Mohr-Tranebjaerg, syndrome of
Molar pyramidal glaucome abnormal upper lip
Molecules HLA of class 1, deficit of expression of the
Molecules HLA of class 2, deficit of expression of the
Mollica pavone antener syndrome of
Molybdenum-cofacteur, deficit in
Momo syndrome
Monilethrix
Monoamine oxydase, deficit in
Monochromatisme with inner cones
Monodactylie tetramelic
Mononen karnes senac syndrome
Monosomie 10p
Monosomie 10pter
Monosomie 10q
Monosomie 11p11 p12
Monosomie 11q partial
Monosomie 12p12 p11
Monosomie 12p13
Monosomie 13q
Monosomie 13q14
Monosomie 13q22
Monosomie 13q32
Monosomie 14q11
Monosomie 14q31
Monosomie 14qter
Monosomie 15q1
Monosomie 15q25
Monosomie 17q23 q24
Monosomie 18p
Monosomie 18q
Monosomie 18q23
Monosomie 1p
Monosomie 1p22 p13
Monosomie 1p31 p22
Monosomie 1p32
Monosomie 1p34 p32
Monosomie 1p36
Monosomie 1q21 q25
Monosomie 1q25 q32
Monosomie 1q32 q42
Monosomie 1q4
Monosomie 1qter
Monosomie 20p
Monosomie 21
Monosomie 21q22
Monosomie 2p22
Monosomie 2pter p24
Monosomie 2q
Monosomie 2q24
Monosomie 2q37
Monosomie 2q duplication 1p
Monosomie 3p
Monosomie 3p14 p11
Monosomie 3p25
Monosomie 3q13
Monosomie 3q21 23
Monosomie 3q27
Monosomie 4p
Monosomie 4p14 p16
Monosomie 4q
Monosomie 4q32
Monosomie 5p
Monosomie 5q35
Monosomie 6p23
Monosomie 6q
Monosomie 6q1
Monosomie 6q13 q15
Monosomie 6q16 q21
Monosomie 6q2
Monosomie 7
Monosomie 7q21
Monosomie 7q3
Monosomie 8p
Monosomie 8p23 1
Monosomie 8q
Monosomie 8q12 21
Monosomie 8q21 q22
Monosomie 9p
Monosomie X
Monosomie xp22 pter
Monosomie xq28
Moore federman syndrome of
Moore smith weaver syndrome of
Moore weaver syndrome of
Morava-Mehes, syndrome of
Morquio, disease of
Morse rawnsley sargent syndrome of
Mort neonatale immunizing deficit
Morvan, disease of
Mounier-Kuhn, syndrome of
Mount reback syndrome
Mowat-Wilson, syndrome of
Moya-Moya, disease of
Moynahan syndrome of
Mpo deficit in
MTHFR, deficit in
Muckle-Wells, standard syndrome of
Mucolipidose 1
standard Mucolipidose 2
standard Mucolipidose 3
standard Mucolipidose 4
standard Mucopolysaccharidose 1
standard Mucopolysaccharidose 2
standard Mucopolysaccharidose 3
standard Mucopolysaccharidose 4
standard Mucopolysaccharidose 6
standard Mucopolysaccharidose 7
Mucosulfatidose
Mucoviscidose
Mucoviscidose gastrite weakens megaloblastic
Muir-Torre, syndrome of
Mulibrey nanism
Mulvihill smith syndrome of
MURCS association
Muscle atrophies pigmentary ataxia retinite diabetes
Muscle-eye-brain, syndrome
Myasthenia climbed
Myasthénie acquired
congenital Myasthénique, syndrome
Mycétome
Mycosis fongoïde
Myélinolyse power station diffuses
cerebelleux Myelo syndrome
Myélodysplasiques, syndromes
Myélofibrose multiple primitive
Myélome
Myéloméningocèle
Myeloperoxidase deficit in
Myhre ruvalcaba graham syndrome of
Myhre ruvalvaba kelley syndrome of
spongy Myocarde
Myocardiopathie gravidic primitive
Myoclonie ataxia
Myoclonie cerebelleuse ataxia deafness
Myoclonies atrophies muscular distal
Myofasciite with macrophages
infantile Myofibromatose
Myoglobinurie
Myopathie with cytoplasmic bodies
Myopathie with hyaline bodies
Myopathie with inclusions - disease of Paget - fronto-temporal insanity
Myopathie with multisystemic lipidic overload
Myopathie with tubular aggregates
excessive Myopathie with autophagie
Myopathie with overload out of desmine
Myopathie cardiosquelettique-neutropenia
Myopathie cataract hypogonadism
congenital Myopathie with central sticks
congenital Myopathie with cores
congenital Myopathie with multi-minicores
congenital Myopathie with cytoplasmic inclusions
congenital Myopathie centronucléaire
congenital Myopathie myotubulaire
Myopathy of the type Bethlem
distal Myopathy with weakness of the vocal cords
distal Myopathy of type Markesbery-Griggs
distal Myopathy of type Miyoshi
distal Myopathy of type Nonaka
distal Myopathy of type Welander, type Swedish
distal Myopathy (generic term)
benign dominant Myopathy
Myopathy and diabetes sweetens
Myopathie mitochondriale with lactic acidosis
Myopathie mitochondriale with sideroblastic anemia
Myopathie mitochondriale with cataract
lactic Myopathie mitochondriale-encephalopathy-acidosis
Myopathie Moebius Robin syndrome
myotonic Myopathie proximale
Myopathie némaline
pharmacogenetic Myopathie of the anesthesia
Myopathie tibiale of Udd
Myopathy, standard Brody
standard Myopathy Hutterite
vacuolar Myopathy
family visceral Myopathy
family visceral Myopathy ophtalmoplegie external
Myophosphorylase, deficit in
severe Myopia
Myosite with inclusions
Myosite ossifying focal distance
Myosite progressive
Myotiline, deficit in
Myotonie worsened by potassium
Myotonie chondrodystrophic
Myotonie congenital of Thomsen and Becker
Myotonie backwardness skeletal anomalies
auricular Myxome
Myxome-hyperpigmentation-hyperactivity endocrinienne

NR

N5-méthylhomocystéine transférase, deficit in
N-acétyl-alpha-glucosaminidase, deficit in
N-acétylglucosamine-1-phosphotransférase, deficit in
N-acétylglucosamine-6-sulfate sulfatase, deficit in
N-Acétylglutamate synthase, deficit in
NADH-Cock réductase, deficit in
NADH-cytochrome b5 réductase, deficit in
NADH diaphorase, deficit in
NADH-méthémoglobine réductase, deficit in
Naegeli syndrome of
Naevi family multiples
baso-cellular Naevomatose
atypical Naevus
Naevus basocellulaire - anodontie - abnormal mineralization
épidermique Naevus resistant rickets vitamino
épidermique Naevus, syndrome of the
giant Naevus
Naevus sébacé of Jadassohn
To swim, syndrome of
Naguib syndrome of
Nail patella like renal disease
Nail-patella syndrome
Naito-Oyanagi, disease of
Nakajo syndrome of
NAME syndrome
Nance-Horan, syndrome of
Nanisme 3M
Nanisme acromesomelic standard campailla martinelli
Nanisme has head D standard bird Montreal
Nanisme campomelic
Nanisme diastrophic
Nanisme fingers block
Nanisme geleophysic dysgammaglobulinemy
Nanisme
osseous old lethal Nanisme advances
lethal Nanisme standard Al gazali
Nanisme mega epiphysaire
Nanisme mesomelic palatine slit camptodactylie
standard Nanisme mesomelic langer
standard Nanisme mesomelic nievergelt
standard Nanisme mesomelic reinhardt pfeiffer
Nanisme metatropic
standard paramount Nanisme microcephalic osteodysplastic 1
standard paramount Nanisme microcephalic osteodysplastic 2
Nanisme micromelie tibiae absent very short fingers
standard Nanisme micromelic fryns
standard paramount Nanisme osteodysplasic toriello
Nanisme osteoglophonic
Nanisme by qualitative anomaly of the parastremmatic growth hormone
Nanisme
Nanisme by deficit combined in growth hormone
Nanisme by deficit isolated in growth hormone
Nanisme by deficit isolated in growth hormone, associated with a hypogammaglobulinemy related to X
Nanisme by resistance to the growth hormone
pituitary Nanisme
paramount Nanisme
paramount Nanisme, microdontie, opalescent teeth and without root
articular Nanisme stiffness ocular anomalies
Nanisme backwardness eye anomalies
Nanisme Robin slit jawbone club-foot anomalies of the hands
Nanisme syndesmo dysplasic
standard Nanisme thanatophore
Nanisme Lenz majewski
standard Nanisme robinow
Nanisme vertebrae anomalies multiple coarse facies
Nanisme high vertebrae
Nanisme walt disney
Nanophtalmie
Narcolepsie-cataplexie
NARP syndrome
NASH syndrome
Naso digito acoustic syndrome
Nasu-Hakola, disease of
Nathalie syndrome of
Naxos, badly of
Néoplasie endocrinienne multiple type 1
Néoplasie endocrinienne multiple type 2
Nephroblastomatose ascite fetal macrosome tumor of wilms
standard Néphroblastome
Néphrolithiase 1
standard Néphrolithiase 2
Néphronophtise autosomic dominant
Néphronophtise autosomic recessive
Nephropathy in IgA
hereditary Nephropathy with early drop
Nephropathy Finnish deafness hyperparathyroidie
Néphrose congenital
Nephrose abnormal neuronal migration
Nephrose deafness urinary tracts and fingers anomalies
Nephrotic congenital Finnish type, syndrome
Nephrotic, cortico-resistant, family, syndrome
Nerve intercostal, syndrome of the
Netherton, syndrome of
Neuhauser daly magnelli syndrome of
Neuhauser eichner opitz syndrome of
Neu laxova syndrome of
Neuraminidase beta-galactosidase, deficit in
Neuraminidase, deficit in
Neurinome of acoustics
Neuroacanthocytose
Neuroblastome
cutaneous Neuro standard syndrome abdallat
Neurodégénerescence with accumulation of iron in the brain
Neuro-ectodermal syndrome, standard Zunich
endocrine Neuroectodermique syndrome
Neuroectodermique mélanolysosomale, disease
Neuroépithéliome
Neuro facio digito renal syndrome
Neuroferritinopathie
Neurofibromatose-Noonan, standard syndrome
Neurofibromatose 1 (NF-1)
Neurofibromatose type 2 (NF-2)
standard Neurofibromatose 6
Neurolipomatose
Neurological paraneoplasic, syndromes
Neuro musculo skeletal Cypriot standard syndrome
Neuropathy with giant axons
Pigmentary Neuropathy-Ataxia-Retinite
hereditary Neuropathy with over-sensitiveness with the pressure
distal driving Neuropathy
driving Neuropathy multifocale with block of conduction
driving Neuropathy peripheral dysautonomy
recessive sensitive radicular Neuropathy
standard hereditary Neuropathy sensitive and autonomic 3
sensitive and autonomic Neuropathy standard 1
sensitive and autonomic Neuropathy standard 2
sensitive and autonomic Neuropathy standard 4
sensory Neuropathy congenital neurotrophic keratitis
sensory Neuropathy and standard hereditary motor coach lom
sensory Neuropathy hereditary spastic paraplegia
standard Neuropathy sensorimotrice 1 cutaneous aplasia
standard Neuropathy tomaculaire
Neuropathy 2 deafness backwardness
severe congenital Neutropenia
cyclic Neutropenia
Neutropenia and hyperlymphocytose with large granulous lymphocytes
Nevo syndrome of
Névralgie pudendale
Nez sterility
Nez bifide
Nezelof syndrome of
NF 1
Niemann-Pick has and B, disease of
Niemann-Pick C, disease of
Nievergelt syndrome of
Niikawa-Kuroki, syndrome of
Nijmegen breakage syndrome
NISCH syndrome
Nocardiose
callous Nodosites leuconychie deafness hyperkeratose palmoplantaire
Nodule of the upper lip
Named
Non left ventricular compaction
Noonan like syndrome
Noonan, syndrome of
Norrie, disease of
Norum, disease of
Novak syndrome of
NR syndrome
congenital Nystagmus

O

Ochoa hereditary syndrome of
Ochronose
Oculo auriculo fronto nasal syndrome
Oculocerebral standard hypopigmentation syndrome cross-country race
Oculocerebral hypopigmentation standard syndrome preus
Oculo-cérébro-cutaneous, syndrome
Oculo cerebro facial standard syndrome kaufman
Oculo-cérébro-renal, dental syndrome
Oculo standard syndrome rutherfurd
Oculo dento digital standard dysplasy dominating
Oculo dento osseous standard dysplasy dominating
Oculo-digito-œsophago-duodénal, syndrome (ODED)
Oculo facio cardio dental syndrome
Oculo osteo cutaneous syndrome
Oculo oto radial syndrome
Oculo palato cerebral nanism
Oculo palato skeletal syndrome
Oculo cerebelleux reno syndrome
Oculo tricho anal syndrome
Oculo tricho dysplasy
O doherty syndrome
O donnell dads syndrome D
Odontomatose aorta and esophagus stenose
Odonto onycho dermic dysplasy
Odonto trichomelic hypohidrotic angioneurotic dysplasy
Edema (OAN)
Oeis complex
Oerter friedman anderson syndrome of
Esophagus of Barrett
Ohaha syndrome of
Ohdo madokoro sonoda syndrome D
Ohtahara, syndrome of
Okamoto will satomura syndrome of
Oligodactylie postaxiale tetramelic
Oligodendrogliome
Oligodontie taurodontie rare hair
Oligoméganéphronie
Oliver macfarlane syndrome of
Oliver syndrome D
Ollier, disease of
Omenn, syndrome of
Omodysplasie
Omodysplasie form recessive
Omoplate heightening
Omphalocèle
Omphalocele exstrophie anal imperforation
Omphalocele palatine slit
Omphalocèle-macroglossie-gigantism
Onat syndrome of
Onchocercose
Ondine, syndrome of
yellow Ongles syndrome of the
Onycho-ostéo-dysplasie
Onycho tricho dysplasy leucopenia
Oochs syndrome
Ophtalmo-acromélique, syndrome
Ophtalmo mandibulo melic dysplasy
external Ophtalmoplégie progressive
Ophtalmoplegie backwardness language scrotale
Ophthalmoplegie hypoacusia ataxia
Opioïdes, intoxication acute by
Opitz-Frias, syndrome of
Opitz mollica sorge syndrome of
Opitz syndrome binds to X
Opitz trigonocephalie syndrome
Opsismodysplasie
Optique atrophy polyneuropathy deafness
Ormond, disease of
Ornithine amino-transférase, deficit in
Ornithine carbamyl transférase, deficit in
Oro cranio digital syndrome
Orofacial standard syndrome thurston
Oro-facio-digital, with retinal anomalies, syndrome
Oro-facio-digital syndrome with aplasia fibulaire
Oro-facio-digital type 1, syndrome
Oro-facio-digital type 2, syndrome
Oro-facio-digital type 3, syndrome
Oro-facio-digital type 4, Oro-facio-digital syndrome
type 6, syndrome
Oro-facio-digital type 8, syndrome
Oromandibulaire members hypoplasy
Oroticacidurie
Orotidylique décarboxylase, deficit in
Os of glass, disease of the
Osebold remondini syndrome of
Oslam syndrome of
family ectopic Ossification
Ostéites aseptic (generic term)
primary or idiopathic hypertrophic Osteoarthropathy
Ostéochondrite deforming
Osteochondrite dissecting
Osteochondrodysplasie hypertrichose
Osteochondrodysplasie thrombocytopenia hydrocephalie
Osteochondromatose carpotarsienne
Osteochondrose deforming of the tibia
standard Osteo cranio stenose
Osteodysplasie family anderson
Ostéodysplasie polykystic lipomembraneuse with sclerosing leucoencephalopathy
Hereditary Ostéodystrophie of Albright
Osteo family ectasis
imperfect Ostéogenèse
imperfect Osteogenese microcephalus cataract
Osteolyse facial anomalies nephropathy
recessive Osteolyse carpo tarsienne
distal Osteolyse small size backwardness
massive Ostéolyse
multicentric Osteolyse
Ostéolyse talo-patello-scaphoïde, syndrome of
Osteomesopycnose
Ostéomyélite multifocale chronic repeating of the child
Osteopathie striee hyperpigmentation matches white
Osteopathie striee cranial sclerosis
Osteopenie backwardness hypotrichose
Ostéopétrose autosomic dominant of type 2
Ostéopétrose with tubular renal acidosis
Ostéopétrose dominant of type 1
Ostéopétrose lethal
Osteopétrose by carbonic deficit in anhydrase II
malignant Ostéopétrose recessive
Ostéopétroses (generic term)
Ostéopoécilie
Osteoporosis cutaneous hypopigmentation oculo
axial Osteoporosis pseudogliome syndrome
Ostéosarcome
Osteosarcome anomalies of the members macrocytose erythroide
Osteosclerose
Osteosclerose meningocele large turcic saddle
standard Osteosclerose stanescu
standard Osteosclerose worth autosomic dominant
Ostravik lindemann solberg dental syndrome
Oto dysplasy
Oto facio cervical syndrome
Oto onycho peroneal Oto-palato-digital syndrome
, syndrome
Otospongiose, family form
Working billson syndrome of
Ovaries polykystic, family disease
Oxalose
Oxydoreduction of alcohols of fatty-acids, deficit of

P

Pachydermie plicaturée of the scalp
Pachydermie vorticellée of the scalp
Pachydermopériostose
Pachygyrie backwardness congenital epilepsy
Pachyonychie
Pacman syndrome of
Paget disease of extramammaire
Paget youthful disease of form
PAGOD syndrome
PAGOD, syndrome
Feeds levkoff syndrome of
Pallister-Hall, syndrome of
Pallister-Killian, syndrome of
Pallister W, syndrome of
Palmitoyl-protein thioestérase, deficit in
annular Paludisme
Pancréas
chronic Pancréatite family
Pancréatoblastome
sclerosing Panencéphalite subacute
Panhypopituitarisme
Pantothénate kinase, neurodégénérescence associated with the
Papilloma of the plexuses choroids
Butterfly-Leage-Psalm, syndrome of
Butterfly-Lefèvre, syndrome of
Papulose atrophying malignant of hereditary Degos
Paragangliome
progressive bulbar Paralysis of the child
Paralysis of beautiful
Paralysis of the muscles of the larynx
hyperkaliemic periodic Paralysis
hypokaliemic periodic Paralysis
normokaliemic periodic Paralysis
Paralysis periodic, potassium-sensitive, with cardiac dysrythmy
progressive Paralysis supranucléaire
Paramyotonie d' Eulenburg
Parana syndrome of
Paraparesie amyotrophie of the hands and feet
spasmodic Paraparésie
spastic Paraparesie deafness
Paraplegia-brachydactylie-épiphyses in cone
mental-hyperkératose Paraplegia-delay
spastic Paraplegia epilepsy backwardness
family spastic Paraplegia
family spastic Paraplegia of spastic type 1
Paraplegia glaucome backwardness
spastic Paraplegia nephropathy deafness
spastic Paraplegia neuropathy spastic poikilodermy
Paraplegia pigmentation anomalies
spastic Paraplegia vitiligo early hair white
Paraquat, intoxication by the
Park syndrome
unilateral partial facial Paresis
spastic Paresis glaucome early puberty
congenital Paresis suprabulbaire
Parkes weber syndrome of
family Parkinson-insanity
Parkinson, genetic forms, early disease of
Parkinsonisme backwardness
Parry romberg syndrome of
Parsonage-Turner, syndrome of
Partington anderson syndrome of
Parvovirus, infection anténatale with the
Pascuel castroviejo syndrome of
Passwell Goodman siprkowski syndrome of
Patau, syndrome of
Patterson stevenson syndrome of
Paucité of the bile ducts, forms nonsyndromic
Paucité of the bile ducts, forms syndromic
Paupières, anomalies of - corneal dystrophy and choriorétinienne, syndrome
Paupiere higher abnormal absence of lashes
Pearson, syndrome of
Peau déciduale
wrinkled Peau syndrome of the
Peau ridee syndrome of the
Pectus excavatum macrocephaly dysplasy ungueale
Peho syndrome
total Skinwool
universal Skinwool
Pelizaeus-Merzbacher, disease of
Pellagra like syndrome
Pelvi scapular bulleuse dysplasy
Pemphigoïde
deep Pemphigus
vulgar Pemphigus
Pena to shokeir standard syndrome 1
Pena to shokeir standard syndrome 2
Pendred, syndrome of
Pentalogie of cantrell
Pentasomie X
Pentosurie
knotty Periarteritis
Pericardium, congenital anomaly of the
Periodic Pericardite
, disease
Periodic syndrome, associated with receiver 1 of the TNF
Peritoneum, gelatinous disease of the
Perlman syndrome of
Perniola krajewska carnevale syndrome of
Fibula aplasia brachydactylie
Fibula ulna duplication tibia radius polykystic absence
Fibula in serpentine kidney
Fibula hypoplasy femur incurvation olygodactylie
Perrault syndrome of
Persistence of the arterial channel
Persistence of the arterial channel with dysmorphie facial and anomalies of the fifth hereditary finger
Persistence of fetal hemoglobin
congenital renal Loss of magnesium, syndrome of
Plague
Peters, anomaly of
Peters-plus syndrome
Small size dysmorphie dysplasy pelvo scapular
Small size microcephalus Small cardiopathy
cut microcephalus epilepsy deafness
cardiac Small size valvulopathy facies characteristic
Petit fryns syndrome of
Peutz-Jeghers, syndrome of
PFAPA, syndrome
Pfeiffer palm teller syndrome of
Pfeiffer, syndrome of
PHACE syndrome
Phaoke sharma agarawal syndrome of
Phaver syndrome
Phénobarbital, exposure anténatale to the
Phénylalanine hydroxylase, partial deficit in
Phénylalanine hydroxylase, partial deficit in
Phénylalanine hydroxylase, total deficit in
Phénylcétonurie traditional (or typical)
standard Phénylcétonurie 2
Phéochromocytome
Phocomalie thrombocytopenia encephalocoele
Phocomelie diminish inches absent
Phocomelie ectrodactylism deafness standard arrhythmia
Phocomelie schinzel
standard Phocomelie zimmer
acid Phosphatase, deficit in
Phosphoénolpyruvate carboxykinase (PEPCK), deficit in
muscular Phosphoéthanolaminurie
Phosphofructokinase, deficit in
Phosphoglucomutase, deficit in
Phosphoglucose isomérase, deficit in
Phosphoglycérate kinase, deficit in
Phosphoglycéromutase, deficit in
Phosphoribosylpyrophosphate synthétase, overactivity in
muscular Phosphorylase kinase, deficit in
Phosphosérine phosphatase, deficit in
cutaneous Photosensibilite lethal colitis
Phytostérolémie
PIBIDS syndrome
Picardi-Lassueur-Little, syndrome of
Pick, disease of
Piebaldism
Pierre Robin cardiopathy club-feet
Pierre Robin, sequence of
Pierre Robin sequence of faciodigitale anomaly
Pierre Robin syndrome chondrodysplasy
Pierre Robin, syndrome of
Pierre Robin syndrome of hyperphalangie clinodactylie
Pierre Robin syndrome of oligodactylie
abnormal Pigment ectrodactylism hypodontie
Pili annulati
Pili bifurcati
Pili canulati
Pili torti
Pili torti sensory deafness neuro
Pili trianguli and canaliculi
Pillay dental syndrome of
Pilo dysplasy
Pinsky di george harley syndrome of
Pitt-rogers-danks syndrome of
Pitt Williams brachydactylie of
Pityriasis will rubra pilar
Piussan lenaerts Mathieu syndrome of
Plagiocéphalie
gray Plaquettes, syndrome of the
giant blood Plaquettes, syndrome of the
Plasminogène, congenital deficit in
Platispondylie amelogenese imperfect
Pleonosteose
Plott serious syndrome of
Pneumococcie idiopathic
Pneumocystose
Pneumonie necrosing staphylococcic
idiopathic acute Pneumopathie with eosinophilic
idiopathic chronic Pneumopathie with eosinophilic
Pneumopathie of over-sensitiveness
cryptogenic organized Pneumopathie
family spontaneous Pneumothorax
POEMS syndrome
Poïkilodermie acrokeratosic of Weary
Poikilodermie alopecie retrognathism slit palatine
Poïkilodermie de Kindler
Poïkilodermie de Rothmund-Thomson
continuous Spikes and waves of sleep (POCS), syndrome of the
Poland syndrome of
Poliodystrophie sclerosing progressive of Alpers
Poliomyelitis
microscopic Polyangéite
Polyatresie intestinal
Polychondrite atrophying
cross Polydactyly
Polydactyly palatine slit labio psychomotor delay
Polydactyly myopia
Polydactyly postaxiale
Polydactyly postaxiale median labial slit
Polydactyly postaxiale backwardness
Polydactyly preaxiale
Polydactyly (generic term)
standard auto-immune Polyendocrinopathie 1
Polyglobulie de Vaquez
hepatic Polykystose
standard Polykystose renal dominating
recessive standard Polykystose renal
Polymicrogyrie
Polymyosite
family starch Polyneuropathy
family Polyneuropathy camptodactylie
Polypose adénomateuse
youthful Polypose gastrointestinale
Polypose palatine hamartomateuse-slit
Polypose acute hyperpigmentation alopecie onychodystrophie
Polyradiculonévrite démyélinisante inflammatory
inflammatory Polyradiculonévrite démyélinisante chronic
Polysyndactylie cross cardiopathy
Polysyndactylie
standard Polysyndactylie haas
Pump, empty disease of
Pool, plate disease of the
Porencéphalie family
Porencephalie cerebelleuse hypoplasy malformations
Porokératose de Mibelli
Porokératose palmoplantaire and disseminated
Post-poliomyelitic Porphyrie
, syndrome
Potocki-Shaffer, syndrome of
long Inch brachydactylie syndrome
Inches absent small size immunizing deficit
Inches in adduction - arthrogrypose, standard Christian
Inches in adduction - arthrogrypose, standard Dundar
Inch triphalange brachyectrodactylie
Inch triphalange big toe duplication
Inch triphalange polysyndactylie syndrome
Inch triphalange kneecap luxation
Powell buist stenzel syndrome of
Powell venencie Gordon syndrome of
Prader-Willi, syndrome of
Predisposition mendélienne to the mycobacterial infections
ventricular Préexcitation family, syndrome of
Prékallicréine, congenital deficit in
Prieto badia mulas syndrome of
Primrose syndrome of
Proconvertine, deficit constitutional in
Progeria
Progeria small size naevi pigment
Progeroide syndrome neonatal
standard Progeroide syndrome of barsy
Prognathisme dominating
Prolactinome, family
mitral, family valvular Prolapsus
Prolidase, deficit in
Proline oxydase, deficit in (standard hyperprolinemy 1)
Properdine, deficit in
Propionyl-CoA carboxylase, deficit in
Propping zerres syndrome of
Protée, syndrome of
Protéine C, congenital deficit in
Protéine kinase associated with the chain zeta, deficit in
Protein R, deficit in
leucocytic Proteins of adhesion deficit of expression of the
Protein S, deficit acquired in
Protein S, deficit congenital in
trifonctionnelle Protein mitochondriale, deficit in
pulmonary alveolar Protéinose
Prothrombine, deficit in
Protoporphyrie erythropoietic
“Plum belly” syndrome
Pseudo-achondroplasie
Pseudo-adrénoleucodystrophie néonatale
Pseudo anodontie jawbone hypoplasy genu valgum
Pseudo-deficit in arylsulfatase has
Pseudo-Left-handed person
female Pseudohermaphrodisme
male Pseudohermaphrodisme by deficit in 17-beta-hydroxystéroïde déshydrogénase
male Pseudohermaphrodisme by deficit in 5-alpha-réductase of the type 2
Male Pseudohermaphrodism by insensitivity to the androgens
male Pseudohermaphrodisme by resistance to the LH
Pseudohermaphrodisme backwardness
Pseudo hermaphrodism skeleton anomalies
standard Pseudohyperaldostéronisme
Pseudohypoaldostéronisme 1
standard Pseudohypoaldostéronisme 2
Pseudo leprechaunism of Patterson
Pseudo-myxome péritonéal
chronic, idiopathic intestinal Pseudo-obstruction
Pseudo standard intestinal obstruction neuronal
Pseudo edema of the papilla blepharophimosis hand anomaly
Pseudoprogeria
Pseudotoxoplasmose syndrome
Pseudo trisomy 13 syndrome
Pseudo-Turner , syndrome
Pseudo-Willebrand
elastic Pseudoxanthome
Pterygium antecubital syndrome of the
Pterygium colli backwardness anomalies of the fingers
Pterygium multiples, lethal form, syndrome of the
Pterygium multiples, syndrome of the
Pterygium backwardness dysmorphie facial
mental Ptosis-colobome-delay
Ptosis strabism diastasis of the rights
PTS2, deficit in
central early Puberty
early Puberty depending on the gonadotrophines
early Puberty independent of the gonadotrophines at the early boy
Puberty limited to the boys
Puretic, syndrome of
Purin nucleoside phosphorylase, deficit in
Purpura de Henoch-Schoenlein
Purpura fulminans
Purpura rhumatoïde
autoimmune Purpura thrombopenic
Purpura thrombopenic idiopathic
Purpura thrombotic thrombocytopenic (PTT)
vascular Purpura
Purtilo, syndrome of
Pycnoachondrogenese
Pycnodysostose
Pyle disease of
phagedenic Pyoderma gangrenosum
Pyodermite
Pyomyositis
Pyrimidin 5 ' nucléotidase, deficit in
Pyrimidinémie family
Pyropoikilocytose
Pyruvate carboxylase, deficit in
Pyruvate decarboxylase deficit in
Pyruvate déshydrogénase (PD), deficit in
Pyruvate kinase, deficit in

Q

family QT long, syndrome of the
Quebec, plate syndrome of the

R

214 diseases

Rabson-Mendenhall, syndrome of
Rachis rigid cardiomyopathy
vitamino-resistant Rachitisme
Radiculomegalie of the canines congenital cataract
Radio digito facial dysplasy
Radio renal syndrome
Radius absence genital anomalies ano
Radius aplasia small size inch bifide facies anomaly
Rage
Grooves syndrome of
Rajab - Spranger, syndrome of
Rambaud gallian touchard syndrome of
Ramer ladda syndrome of
Ramon syndrome of
Ramos stream clark syndrome of
Ramsay hunt syndrome
Rapadilino syndrome
Rapp hodgkin syndrome of
Rasmussen johnsen thomsen syndrome of
Rathburn, disease of
Rayner lampert rennert syndrome of
radial Ray sterility
radial Ray hypoplasy atresy of the choanes
Ray peterson scott syndrome of
Reardon hall slaney syndrome of
Reardon Wilson cavanagh Receiving syndrome of
of the interféron gamma, deficit in
Recklinghausen, hemorrhagic disease of
Rectocolite
Refetoff, syndrome of
Refsum forms infantile, disease of
Refsum, disease of
Reginato schiapachasse syndrome of
caudal Régression, sequence of
Regression testiculaire syndrome of
Rein out of sponge
Rein out of horseshoe
Reinhardt pfeiffer thoracic syndrome of
Kidney vertebral fusions
Renal dysplasy mesomelie fusion radio humerale
Returned-Osler, disease of
To disavow gabreels to marble syndrome of
Reno ano genital syndrome
Reno hepato pancreatic dysplasy dandy Walker
Renotubulaire disgenesis
Resistance to the LH
Resistance to the TSH
Resistance to the androgens, syndrome of
Resistance to the glucocorticoïdes
Resistance to the thyroid hormones, syndrome of
Resistance to the receivers of the estrogens, hereditary syndrome of
Résistance to the anti-vitamin K
Résistance ovarienne to the gonadotrophines
Retard of growth alopecie pseudoanodontie atrophies optical
Retard of growth, amino-aciduria, cholestase, overload out of iron, lactic acidosis, and dead néonatale early
standard Retard of growth and mental myhre
Retard of growth hydrocephalie lungs hypoplasy
Retard of growth hypoplasy malaire micrognathism
Retard of growth sensitivity to the mitomycine
Retard of development hypotonia hypotrophie of the ends
Retard of language facial asymmetry strabism incisure of the lobe
Retard D ossification of membranous cranium
Backwardness arachnodactylie hyptonie telangiectasy
Backwardness arachnodactylie stiffnesses
Backwardness athetose microphtalmy
Backwardness baldness luxation of the kneecap acromicrie
Backwardness cataract house of L ear calcifies myopathy
Backwardness dysmorphie hyperlaxite
Backwardness dysmorphism hypogonadism diabetes sweetens
Backwardness skeletal dysplasy paralysis
Retard endocrine mental-epilepsy-anomalies
Backwardness epilepsy bulbous nose
Backwardness unusual face feet hands anomalies
Backwardness facies anomalies type davis lafer
Backwardness particular facies hypothyroidism
Retard mental-facies private individual-delay of growth
Backwardness standard particular facies ampola
Backwardness gynecomastie obesity binds has L X
Backwardness hypocupremy hypobetalipoproteinemy
Backwardness nasal hypoplasy obesity genital hypoplasy
Backwardness hypotonia hyperpigmentation
Backwardness hypotrichie brachydactylie
unexplained Backwardness
dependant Backwardness to X, with convulsions, small size and hypoplasy of the average stage of the face
Backwardness bind has L X dysmorphie atropie cerebral
Backwardness binds has L X epilepsy psoriasis
Backwardness related to X, habitus marfanoïde
Backwardness binds has L X microcephalus club-feet
Backwardness related to X, nonspecific
Backwardness binds has L X small size obesity
Backwardness related to X, psychosis, macroorchidism
Backwardness related to X, standard Allan-Herndon
Backwardness binds has L X type atkin
Backwardness binds has L X type brooks
Backwardness binds has L X type of silva
Backwardness binds has L X type gu
Backwardness binds has L X type hamel
Backwardness related to X, standard Juberg-Marsidi
Backwardness related to X, standard Martinez
Backwardness binds has L X type Raynaud
Backwardness binds has L X type schutz
Backwardness binds has L X type snyder
Backwardness binds has L X type wittner
Backwardness limits dregs has L X anomaly of maoa
Backwardness luxation of hip g6pd variable
Backwardness microcephalus phalangeal and facial anomalies
Backwardness microcephalus particular facies
Backwardness thinness colobome
Backwardness myopathy small size defect endocrinien
Backwardness nanism deafness genital anomalies
Backwardness nevi multiple
Backwardness osteosclerose
Backwardness nasal papillomatosis
Backwardness progressive spastic paraplegia
Backwardness small size articular ocular anomalies
Backwardness small size heart skeleton anomalies
Backwardness small size abnormal ulna
Backwardness small size particular facies
Backwardness small size palatine slit particular facies
Backwardness small size hypertelorism syndrome binds has L X
Backwardness small size hypogonadism binds has L X
Backwardness small size hands diminish
Backwardness small size microcephalus eye anomaly
Backwardness small size phalanges absence
Retard mental-polydactyly-hair incoiffables
severe Backwardness binds has L X type gustavson
Backwardness standard Buenos Aires
standard Backwardness mietens weber
Backwardness standard smith fineman myers
Backwardness standard Wolf
Rétention of will chylomicrons
pigmentary Retine backwardness deafness
Retine telangiectasies pigmentary hypogammaglobulinemy
Rétinite
pigmentary Retinite backwardness
Rétinite pigmentary-deafness
Rétinite pigmentary-deafness-hypogénitalisme
punctuated Rétinite albescente
Rétinoblastome
Retino dominant vitreous choroidopathy
Retino hepato endocrinological syndrome
Retinopathie weakens cns anomalies
medullary Retinopathie aplasia neurological anomalies
Rétinoschisis with early hemeralopia
youthful Rétinoschisis
Rétinoschisis related to X
abnormal pulmonary venous Retour
abnormal systemic venous Retour
under-valvular aortic Rétrécissement
valvular aortic Rétrécissement of the child
Rett like syndrome
Rett, syndrome of
Revesz debuse syndrome of
Reye, syndrome of
Reynolds, syndrome of
Rhabdomyome cardiopathy genital anomalies
Rhabdomyosarcome
Rhizomelique syndrome
acute Rheumatoid arthritis
Richards rundle syndrome of
Richiera costa guion almeida nanism of
Richieri costa colletto otto syndrome of
Richieri-Costa-Colletto, syndrome of
Richieri costa da silva syndrome of
Richieri costa gorlin syndrome of
Richieri costa guion almeida acrofaciale dysostose of
Richieri costa guion almeida cohen syndrome of
Richieri costa guion almeida ramos syndrome of
Richieri costa guion almeida rodini syndrome of
Richieri costa orquizas syndrome
Richieri costa will silveira will pereira syndrome of
Ricker, syndrome of
Rickettsiose
Rieger, syndrome of
Riley-Day, syndome of
Rippberger aase syndrome of
Ritscher-Schinzel, syndrome of
Rivera will perez salted syndrome of
Roberts, syndrome of
Robinow, dominant form, syndrome of
Robinow like syndrome
Robinow sorauf syndrome of
Robinow syndrome of recessive form
Robin sequence of oligodactylie
Robinson miller bensimon syndrome of
Rodini richieri costa syndrome of
Roifman - Melamed, syndrome of
Rokitansky, sequence of
Romano-Ward, syndrome of
Rombo syndrome of
Rommen mueller sybert syndrome of
Rosenberg chutorian syndrome of
Rosenberg lohr syndrome of
Rothmund-Thomson, poikilodermy of
Rotor, syndrome of
Rotule aplasia coxa will vara synostose tarsienne
Hypolasic kneecap skeletal malformations
Kneecap hypoplasy backwardness
Roussy levy disease of
maroteaux Roy kremp syndrome of
Rozin hertz Goodman syndrome
malformative congenital Rubella
congenital Rubella, syndrome of
Rubinstein-Taybi like, syndrome of
Rubinstein-Taybi, syndrome of
Rudd klimek syndrome of
Rudiger, syndrome of
Russell weaver bulldozer syndrome of
Rutherfurd syndrome of
Rutledge friedman harrod syndrome of
Ruvalcaba churesigaew myhre syndrome of
Ruvalcaba syndrome of
Ruzicka goerz anton syndrome of
Rate/rhythm disorders myopia

S

353 diseases

Saal bulas syndrome of
Saal greenstein syndrome of
Sabinas syndrome of
Sabouraud, syndrome of
Saccharopine déshydrogénase, deficit in
Saccharopinurie
Sackey sakati aur syndrome of
Sacrum sterility of the
Sacrum former anomaly
Saethre-Chotzen, syndrome of
Saito kuba tsuruta syndrome of
Sakati nyhan syndrome of
Salcedo syndrome of
Salerno - Andria, syndrome of
Salted, disease of
Sallis beighton syndrome of
Salmonellose
Salti salem syndrome of
Sammartino decreccio syndrome of
Samson gardner syndrome of
Samson viljoen syndrome of
Sanderson fraser syndrome of
Sandhaus Ben friendly syndrome of
Sandhoff, disease of
Sandrow sullivan steel syndrome of
Sanfilippo, disease of
Sanjad-Sakati, syndrome of
Santavuori, disease of
Santos mateus leal syndrome of
SAPHO syndrome
Sarcocystose
Sarcoidosis
Sarcome de Kaposi
Sarcome d' Ewing
Sarcome osteogenetic
Sarcosinémie
Sarcosporidiose
Sato-Ilida, syndrome of
Satoyoshi syndrome of
Saul wilkes stevenson syndrome of
Say to bore hobbs syndrome of
Say to bore miller syndrome of
Say carpenter syndrome of
Say field coldwell syndrome of
Say meyer syndrome of
SCAD, deficit in
iliaque Scaphocéphalie
Scapulo dysostose
Scarf syndrome
staphylococcic Scarlet fever
Schaap Taylor baraitser syndrome of
SCHAD, deficit in
Scheie, disease of
Scheuermann disease of dominant
Schiel stengel rutkowski syndrome of
Schimke syndrome of
Schindler, disease of
Schinzel-Giedion, syndrome of
Schinzel, syndrome of
Schisis association
Schizencéphalie
Schizophrenia, forms
Schizophrenia backwardness deafness retinite
Schlegelberger grote syndrome of
Schmidt syndrome of
Schmitt gillenwater kelly syndrome of
Schneckenbecken dysplasy of
Schnitzler, syndrome of
Schofer beetz bohl syndrome of
Scholte begeer van essen syndrome of
Schopf-Schulz-Passarge, syndrome of
Schrander stumpel theunissen hulsmans syndrome of
Schroer hammer mauldin syndrome of
malignant Schwannome
Schwartz-Jampel, syndrome of
Schwartz newark syndrome of
Schweitzer kemink malcolm syndrome of
Sclerocornee syndactylie sexual ambiguity
Scleroderma

Multiple sclerosis
Multiple sclerosis ichtyose deficit in factor 8

amyotrophic side Sclérose
primitive side Sclérose
Sclérose mésangiale diffuses
Sclérose tuberose of Bourneville
Sclerosteose
Scoditti geminiani colonna syndrome of
idiopathic Scoliose of the teenager
SCOT, deficit in
Scott bryant graham syndrome of
Scott, syndrome of
Scott taor syndrome of
SC phocomélie
Seaver cassidy syndrome of
Sebastian, syndrome of
Sébocystomatose
standard Seckel like syndrome buebel
standard Seckel like syndrome majoor krakauer
Seckel, syndrome of
Seemanova lesny syndrome of
Seemanova syndrome of the type 2
Segawa, syndrome of
Seghers syndrome of
Segmentation costovertebrale anomaly mesomelie
Selig benacerraf greene syndrome of
Sellars beighton succinic syndrome of
Semialdéhyde déshydrogénase, deficit in
Séminome
Semmekrot haraldsson weemaes syndrome of
Sengers hamel otten syndrome of
Sengers, syndrome of
Senior loken syndrome of
Senior syndrome of
Sensenbrenner syndrome
Senter syndrome of
Seow najjar syndrome
Sequeiros sack syndrome of
Sequence D anomalies of the lower mesoderme
vascular Sequence of disruption
Sequence of potter slit pulmonary cardiopathy
Sequestration
Sérotoninergique, syndrome
Setleis syndrome of
Sézary, syndrome of
Shapiro, syndrome of
Sharma kapoor ramji syndrome
Sharp, syndrome of
Shigellosis
Shith filkins syndrome of
Shokeir syndrome of
Shorts syndrome
Shprintzen Goldberg craniosynostose syndrome
Shprintzen omphalocele syndrome
Shulman, syndrome of
cerebral arteriovenous Shunt
Shwachman-Diamond, syndrome of
Shy-Drager, syndrome of
Sialidose types 1 and 2
standard Sialurie French
Sidransky feinstein Goodman syndrome of
Siegler brewer carey syndrome of
Silengo lerone pelizza syndrome
Silence syndrome of
Silver-Russell, syndrome of
Simosa syndrome
Simpson-Golabi-Behmel, syndrome of
Singh chhaparwal dhanda syndrome of
Singh - Williams McAlister, syndrome of
Sipple, syndrome of
Sirenomelie
Maple syrup, disease of the
Sitostérolémie
Situs inversus-cardiopathy
Situs inversus related to X
Sjogren larsson like syndrome
Sjögren-Larsson, syndrome of
Skin peeling syndrome
Slavotinek hurst syndrome of
Sly, disease of
Smith fineman myers syndrome of
Smith-Lemli-Opitz, syndrome of
Smith-Magenis, syndrome of
Smith Martin dodd syndrome
Sneddon, syndrome of
Sneddon-Wilkinson, disease of
Sohval soffer syndrome of
Solomon, syndrome of
To summon hines syndrome of
To summon rathbun battles syndrome of
To summon Young wee frye syndrome of
Sondheimer syndrome of
Sonoda syndrome of
Sorsby syndrome of
Sotos, syndrome of
Eyebrows duplication syndactylie
Eyebrows and lashes absence of backwardness
infantile Spasms
infantile Spasms broad inches
multiple Spasticite exostoses
Spasticite backwardness
Spellacy gibbs Watts hereditary syndrome of
Sphérocytose
Spherophakie brachymorphie
Cerebelleuse Sphingomyélinase, deficit in
Spina bifida
Spina bifida hypospadias
Spino degeneration corneal dystrophy
Spino cerebelleuse standard degeneration book
Splénomégalie myéloïde
Spondylarthrite ankylosante
Spondylo camptodactylie syndrome
Sporotrichosis
Sprengel nontropical anomaly of
Sprue secondary
cardiac Squeletto syndrome with thrombocytopenia
Stalker chitayat syndrome of
Country rock sorensen syndrome of
Stargardt, disease of
STAR protein, deficit in
Steatocystome teeth neonatales
nonalcoholic Stéatohépatite
Steele-Richardson-Olszewski, disease of
Steinert, disease of
Steinfeld syndrome of
Stein-leventhal syndrome of
Sténose congenital of the cervical medullary canal
Sténose of the aqueduct of Sylvius, related to X
Sténose of the pulmonary branches
Stenose of the pulmonary veins
Sténose pulmonary-spots coffee with milk
Stenoses multiples brachydactylie
under-pulmonary Sténose
Stenose subaortic small size
aortic Sténose supravalvulaire
pulmonary Stenose supra valvular
pulmonary valvular Sténose
male Sterility by délétions of Y
Stern lubinsky durrie syndrome of
Sternum malformation vascular dysplasy
Steroid deshydrogenase dental anomalies deficit in
Steroid sulfatase, deficit in
Sterol 27-hydroxylase, deficit in
C5 Sterol - désaturase, deficit in
Sterol-delta8-isomérase, deficit in
Stevens-Johnson, syndrome of
Stickler, syndrome of
Stiff baby syndrome
Stiff-man syndrome
Still of the adult, disease of
Stimmler syndrome of
Stoelinga of koomen davis syndrome of
Stoll alembik dott syndrome of
Stoll alembik finck syndrome of
Stoll geraudel chauvinistic syndrome of
Stoll kieny dott syndrome of
Stoll levy Frankfurt hereditary syndrome of
Stomatocytose with dehydrated red blood corpuscles
hereditary Stomatocytose with hyperhydratées red blood corpuscles
Stormorken sjaastad langslet syndrome of
Stratton garcia Young syndrome of
Stratton Parker Strümpell-Lorraine syndrome of
, disease of
Stuccokératose
Sturge weber anomaly of
Stuve wiedemann syndrome of
white Substance hypoplasy callous body sterility backwardness
Succinate coenzyme Q réductase, deficit in
Succinic acidemy congenital lactic acidosis
Succinyl-CoA acétoacétate transférase, deficit in
Invert sugar-isomaltase, deficit in
Sugarman syndrome of
Sugio-Kajii, syndrome of
Sujansky leonard syndrome of
Sulfatases, multiple deficit in
youthful Sulfatidose standard Austin
Sulphite and xanthine oxydase, deficit in
Sulphite oxydase, deficit in
Summit syndrome of
SUNCT, syndrome
Overload in free acid sialic, disease of
Deafness-acidosis tubular-weakens
Surdite alopecie hypogonadism
Surdite atrophies optical
Surdite atrophies optical insanity
branchiogenic Surdité
Surdite blindness hypopigmentation
Surdite hair depigmentes diminish
congenital Surdite onychodystrophie recessive
Surdite of conduction micrognathy
Surdite of conduction outer ear anomaly
Surdité of nonsyndromic perception, dominant, DFNA
Surdité of perception nonsyndromic, recessive, DFNB
Surdite diverticulose neuropathy
Surdite dysplasy epiphysaire small size
Surdite skeletal dysplasy lip anomaly
Deafness-dystonie-atrophies optical, syndrome
Surdite email hypoplasy punctuated nails anomaly
Deafness goiter epiphyses
Deafness hypogonadism
Deafness hypospadias synostose metacarpus and metatarses
Surdite insensitivity has L aldosterone
isolated Surdité, of transmission mitochondriale
Surdité related to X, DFN
Surdité related to X, DFN3
Surdite lymphœdeme mixed leukemia
Surdité with perilymphatic dent, been dependant on X
Surdite mixed backwardness brachydactylie
pituitary Surdite nanism
Surdite nephritis rectal malformation ano
peripheral Surdite neuropathy arteriopathy
nonsyndromic neurosensory Surdité, dominant, DFNA
nonsyndromic neurosensory Surdité, recessive, DFNB
nonsyndromic Surdité, related to the connexine 26
standard Surdite oligodontie
Surdite onychodystrophie dominating
Surdite abnormal ear facial paralysis
progressive Surdite cataract forms autosomic dominant
progressive Surdité due to the ankylosis of the ossicles
Surdite ptosis skeleton anomalies
Surdite symphalangism
Surdite mitral valve skeleton anomalies
Surdite vitiligo achalasy
Surfactant SP-B, protein congenital deficit of the
Surtide cranio facial syndrome deafness
Susac syndrome of
Susceptibilité to the chronic infections by the virus of Epstein-Barr
Sutherland haan syndrome
Sweet syndrome of
Swyer, syndrome of
Sybert smith syndrome of
Symcamptodactylie asymmetry scoliosis
Symphalangie anomalies multiple hands and feet
Symphalangisme brachydactylie
Symphalangisme brachydactylie craniosynostose
distal Symphalangisme
family Symphalangisme proximal
Symphalangisme standard small size
Symphalangisme cushing
Syndactylie cataract backwardness
Syndactylie ectodermal dysplasy palatine slit labio
Syndactylie between 4 and 5
abnormal Syndactylie-polydactyly-lobe of the ear
Syndactylie (generic term)
standard Syndactylie 1
standard Syndactylie 1 microcephalus backwardness
standard Syndactylie 2
standard Syndactylie 3
standard Syndactylie 4
standard Syndactylie 5
standard Syndactylie cenani Lenz
Syngnathie multiple anomalies
Syngnathie palatine slit
Synostose coronale syndactylie jejunal atresy
Synostose humero radial
Synostose humero radio cubital
Synostose lambdoide family
Synostose microcephalus dominant scoliosis
Synostose radio-cubital
Synostose radiocubitale backwardness hypotonia
pigmentary Synostose radiocubitale retinite
Synostoses multiples disease of the
Synostose spondylo carpo tarsienne
Synovialosarcome
Synovite-Acne-Pustulose-Hyperostose-Ostéite
Synovite uveite cranial neuropathy
Synpolydactylie
congenital Synspondylisme
Synthese of the plasmalogenes deficit isolates from the congenital
Syphilis
Syringocystadénome papillifère
Syringomes teeth neonatales oligodontie
Syringomyélie
Syringomyelie hyperkeratose

T

312 diseases

Tabatznik syndrome of
Spot of wine naevus hydrocephalie
Spots coffee with milk, disease of the
Tachyarythmie atriale with interval short PR
chaotic Tachycardia atriale
Tachycardia hisienne
Tachycardia hypertension microphtalmy hyperglycinurie
ceaseless ventricular Tachycardia of the newborn
catecholergic polymorphic ventricular Tachycardia
Tajara pinheiro syndrome of
Takayasu, arteritis of
Tamari Goodman syndrome of
Tang hsi ryu syndrome of
Tangier, disease of
TAP, deficit in
TAR syndrome
Tarui, disease of
Taurodontisme
Tau syndrome
Taybi linder syndrome of
Taybi, syndrome of
Tay-Sachs, disease of
Tay, syndrome of
Teebi Al saleh hassoon syndrome of
Teebi kaurah syndrome of
Teebi naguib alawadi syndrome of
Teebi shaltout syndrome of
Teebi syndrome of
hemorrhagic Télangiectasie family
Télangiectasie retinal congenital
Telecanthus anomalies associated
Telecanthus hypertelorism strabism pes cavus
Telfer sugar jaeger syndrome with
Such hashomer camptodactylie
Temtamy shalash syndrome of
Tendons bungee cords of the fingers anomaly of the
Tératome
Teratome dandy diaphragmatic Walker hernia
For the third time haar hamel hendricks syndrome of
Ter haar syndrome of
Testotoxicose
Tétanos
Tetra amelie pulmonary hypoplasy
Tetra amelie multimalformations
Tetra-amelie-syrinx
Tétralogie of Hand lantern
Tetralogie of hand lantern small size backwardness
Tetraploidie
Tétrasomie 12p
Tetrasomie 15q
Tétrasomie 18p
Tetrasomie 21q
Tetrasomie 5p
Tetrasomie 9p
Tetrasomie X
Thakker gave syndrome of
Thalamique degeneration
Thalassémie alpha
Thalassémie alpha related to X, with backwardness
Thalassémie beta
Thanos stewart zonana syndrome of
Theile syndrome of
Theodor hertz Goodman syndrome of
Thiemann disease of
Thies-Reis, syndrome of
Thiolase, deficit in
Thiopurine S methyltransferase deficit in
Thomas jewtt groove syndrome of
Thomas syndrome of
Thomas Soulier syndrome of
Thompson baraitser syndrome of
Douglas Thong shoeing syndrome of
abdominal Thoraco syndrome
Thoraco laryngo pelvic dysplasy
Thoraco pelvic dysostose
obliterating Thrombasthénie of Glanzmann
Thromboangéite
Thrombocytémie essential
Thrombocytopathie asplenie miosis
Thrombocytopenie absence of ulna
Thrombocytopenie amegacaryocytaire
Thrombocytopenie congenital anomalies multiple
Radial Thrombocytopenia-Aplasia
Thrombocytopenie chromosomal breaks
Thrombocytopenie cerebelleuse hypoplasy small size
Thrombocytopenie hones Robin syndrome of
Thrombomoduline, genetic anomalies of the
Thrombopénie de May-Hegglin
Thrombopénie family, related to X
Thrombopénie induced by materno-fetal heparin
Thrombopénie and néonatale hello-immune
Thrombopénie Paris-Trousseau
Thrombophilie (of genetic cause)
Thrombophilie by change of the factor V
Thrombose of the portal vein
Thrombose portale
Thymus kidney anus lung dysplasy
Thyro cerebro renal syndrome
Thyroide kidney fingers anomalies
Thyroïdite de Hashimoto
Tibia absent polydactyly cyst arachnoidien
Tibia aplasia ectrodactylism
Tibia aplasia ectrodactylism hydrocephalie
Tibia and radii osteopenie fractures
Tibia hypoplasy polydactyly inch triphalange
Tietz, syndrome of
conjunctive Fabric standard dysplasy spellacy
Fabric under cutaneous thick coarse facies macrocephaly
Tollner horst manzke syndrome of
Toluene brown exposure antenatale to the
Tome cheese burden syndrome of
Toni-Debré-Fanconi, disease of
Tonoki will ohura niikawa syndrome of
Toriello carey syndrome of
Toriello lacassy droste syndrome
Toriello syndrome of
Torres aybar syndrome of
Twist-of-points to short coupling, syndrome
Torticollis cheloides cryptorchidism
arterial Tortuosite
Tosti misciali barbareschi syndrome
Tourette, syndrome of
Townes-Brocks, syndrome of
Toxic with stabilizing effect of membrane, acute intoxication by the
Toxocarose
Toxopachyosteose diaphysaire
Toxoplasmose
Toxoplasmose congenital
Trachea chondro-osteoplastic sterility
Trachéobronchomégalie
Trachéopathie
Tranebjaerg svejgaard sydome of
Transcobalamine II, cerebral deficit in
Conveying of the carnitine, Conveying deficit in
of creatin, Conveying deficit in
of cystine, deficit in
corrected Transposition
Transposition of the large vessels
TRAPS syndrome
Treacher-Hakes, syndrome of
Treft sanborn carey syndrome of
Family essential tremor
essential Tremblement nystagmus ulcerates
Trevor disease of
Trichinellose
Trichinose
Tricho dental syndrome
Tricho dento osseous syndrome standard 1
Trichodermal syndrome backwardness
Tricho dermo dental syndrome
Trichodysplasie multiple xerodermy
Trichoépithéliome family
Trichofollicullome
Tricho-hepato-enteric syndrome
Trichomalacie
Trichomegalie cataract spherocytose
Trichomegalie retina degeneration delay of growth
Tricho oculo dermo vertebral syndrome of
Tricho odonto onychial dysplasy
Tricho odonto onycho dermal syndrome
Tricho odonto onycho dominant dysplasy syndactylie
Tricho retino dento digital syndrome
Tricho-rhino-phalangeal type 1, syndrome
Tricho-rhino-phalangeal type 2, syndrome
Tricho-rhino-phalangeal type 3, syndrome
Trichostasis spinulosa
Trichothiodystrophie with photosensitivity
Trichothiodystrophies (generic term)
standard Trichothiodystrophie B
standard Trichothiodystrophie D
standard Trichothiodystrophie E
standard Trichothiodystrophie F
standard Trichothiodystrophie G
Trigonocéphalie
Trigonocephalie anomalies of the ends
Trigonocephalie osseous dysplasy generalisee
Trigonocephalie nose bifide anomalies of the ends
Trigonocephalie small size delay of growth
Trigonocephalie ptosis colobome
Trigonocephalie ptosis backwardness
Trigonomacrocephalie tibia anomaly polydactyly
Trihydroxycholestanoyl-CoA oxydase, deficit isolated in
Trimethadione exposure antenatale to the
Triméthylaminurie
Triopie
Triose phosphate-isomérase, deficit in
Triple has syndrome
Triple H (HHH) syndrome
Triple X
Triploïdie
Trismus pseudo camptodactylie syndrome
Trisomie 10p
Trisomie 10pter p13
partial Trisomie 10q
Trisomie 12 in mosaic
Trisomie 12p
Trisomie 12q
Trisomie 13
Trisomie 13p
Trisomie 13q
Trisomie 14 in mosaic
Trisomie 14qprox
Trisomie 14qter
Trisomie 15 in mosaic
Trisomie 15q
Trisomie 16 in mosaic
Trisomie 16p
Trisomie 16q
Trisomy 17 in mosaic
Trisomy 17p
Trisomy 17p11 2
Trisomy 17q22
Trisomy 18
Trisomy 18 in mosaic
Trisomy 18p
Trisomy 18q
Trisomy 19q
Trisomy 1 in mosaic
Trisomy 1p21 p32
Trisomy 1q12 q21
Trisomy 1q32 qter
Trisomy 1q42 11 q42 12
Trisomy 1q42 qter
Trisomy 20 in mosaic
Trisomy 20p
Trisomy 21
Trisomy 22
Trisomie 22q11 q13
Trisomie 2 in mosaic
Trisomie 2p
Trisomie 2p13 p21
Trisomie 2pter p24
Trisomie 2q
Trisomy 2q37
Trisomy 3 in mosaic
Trisomy 3p
Trisomy 3p25
Trisomy 3q
Trisomy 3q13 2 q25
Trisomy 4p
Trisomy 4q
Trisomy 4q21
Trisomy 4q25 qter
Trisomy 5p
Trisomy 5pter p13 3
Trisomy 5q
Trisomy 6p
Trisomy 6q
Trisomy 7 in mosaic
Trisomy 7p
Trisomy 7p13 p12 2
Trisomy 7q
Trisomy 8
Trisomy 8p
Trisomy 8q
Trisomy 9 in mosaic
partial Trisomy 9p
Trisomy 9q21
Trisomy 9q32
Trisomy X
Trisomy xp3
Trisomy xpter xq13
Trisomy xq
Trisomy xq25
Trochlee of L humerus aplasia
common arterial Trunk
Disorder of cardiac conduction family
Turbid bipolar (genetic forms)
Turbid of the hormono-synthesis with or without goître
Trueb burg bottani syndrome
Trypanosomose African
Trypanosomose American
Tsao ellington syndrome of
Tsukahara azuno kajii syndrome of
Tsukahara kajii syndrome of
Tsukuhara syndrome of
Tube neural, anomaly of, related to X
Tube neural, anomalies of closing of the
Tuberculosis
Tubulopathie proximale diabetes sweetens cerebelleuse ataxia
Tucker syndrome of
Tuffli laxova syndrome of
Tularemie
Tumeur of the peak neurale
Tumeur of the sexual cords and the stroma
Tumeur desmoïde
Tumeur of Wilms
Tumeur of Wilms-pseudohermaphrodisme
Tumeur of the heart of the adult
Tumeur of the heart of the child
Tumeur of the vitelline bag
Tumeur of the endodermal sine
Tumeur of the cerebral trunk
epithelial Tumeur of the thymus
malignant Tumor ovarienne germinal
neuro-ectodermal Tumeur neuroendocrine
primitive Tumeur
Tumeurs of the bones (generic term)
Tumeurs of the soft parts (generic term)
Tumors of the brain (generic term)
malignant germinal Tumors (generic term)
malignant mesenchymateuses Tumors (generic term)
Tumor stromale gastrointestinale
Tumor virilizing of the ovary
Tungland savage bellman syndrome of
Tungose
Tunnel ventricle left-aorta
Turcot, syndrome of
Turner-Kieser, syndrome of
Turner, syndrome of
Tyrosin hydroxylase, deficit in
standard Tyrosinémie 1
standard Tyrosinémie 2
Tyrosin oxydase, transitory deficit in
Tyrosin transaminase, deficit in

U

Uhl, anomaly of
Ulbright hodes syndrome D
Ulick, syndrome of
Upington disease D
Urban rogers meyer syndrome D
Urban schosser spohn syndrome of
Uridine monophosphate synthase, deficit in
Urofacial chronic syndrome
Urticaria with macroglobulinemy
family Urticaria cold
pigmentary Urticaria
renal Urticaria-deafness-amylose
Usher, syndrome of
Uterus renal double-hemivagin-sterility

V

VACTERL association
Vacterl hydrocephalie
Van buchem disease of
Van of berghe dequeker syndrome of
Van DER bosch syndrome of
Van Der Woude, syndrome of
Varadi-PAP, syndrome of
congenital Chicken pox
cryoglobulinemic Vascularity
cutaneous Vascularity
systemic Vascularities (generic term)
hypocomplementemic Vascularity urticarienne of Mac Duffie
viral Vascularity nonrelated to viruses HBV and retinal HCV
Vasculopathie cerebro
Vasquez hurst sotos syndrome of
VATER association
Vater-like, syndrome, with pulmonary hypertension, anomalies of the ears, and delay of growth
Veino-occlusive hepatic, disease
Veino-occlusive pulmonary, disease
Bicycle-cardio-facial, syndrome
Bicycle facio skeletal right syndrome
Ventricle with double exit
left Ventricle with double exit
Ventruto catani syndrome of
Burgundian Verloes syndrome of
Verloes David syndrome of
Verloes - Deprez, syndrome of
Verloes gillerot fryns syndrome
Verloes van maldergem marneffe syndrome of
Verloove van horick brubakk syndrome of
cérébelleux Vermis, sterility of the
Verneuil disease of
standard premature Ageing okamoto
Vitiligo
Vitiligo backwardness facial dysmorphism urethral duplication
Family exsudative Vitreoretinopathy
VLCAD, deficit in
Vogt-Koyanagi-Harada, disease of
Vohwinkel, syndrome of
bile Ducts anomaly impaired renal function
Von Gierke, disease of
Von Hippel-Lindau, disease of
Dome of the skull absence
Vuopala, disease of

W

Waaler aarskog syndrome of
Waardenburg, syndrome of (generic term)
standard Waardenburg 1, standard syndrome of
Waardenburg 2, standard syndrome of
Waardenburg 3, syndrome of
standard Waardenburg 4, syndrome of
Wagner, disease of
WAGR syndrome
Waldenström, macroglobulinemy of
Waldmann, disease of
Walker dyson syndrome of
Walker-Warburg, syndrome of
Wallis zieff goldblatt syndrome of
Warburg sjo fledelius syndrome
Warburg thomsen syndrome
Warburton anyane yeboa syndrome of
Warfarin exposure antenatale to the
Warman mulliken hayward syndrome of
Watson, syndrome of
Weaver syndrome of
Weaver Williams syndrome of
Wegener, disease of
Weill marchesani syndrome of
Weismann netter stuhl syndrome of
Weissenbacher zweymuller syndrome
Wellesley carman french syndrome of
Wells jankovic syndrome of
Wells, syndrome of
Werdnig-Hoffman, disease of
Wermer, syndrome of
Werner, syndrome of
Westerhof beemer cormane syndrome of
Westphal, disease of
West, syndrome of
Weyers acrofacial dysostose
WHIM, syndrome
White murphy syndrome of
Wieacker-Wolf, syndrome of
Wiedemann-Beckwith, syndrome of
Wiedemann oldigs oppermann syndrome of
Wiedemann rautenstrauch syndrome of
Wildervanck syndrome of
Wilkie Taylor scambler syndrome of
Willebrand, disease of
Williams-Beuren, syndrome of
Williams, syndrome of
Willi-Prader, syndrome of
Wilson, disease of
Wilson turner syndrome of
Winchester disease of
Winkelmann bethge pfeiffer syndrome of
Winship viljoen leary syndrome of
Wisconsin syndrome of
Wiskott-Aldrich, syndrome of
Wissler-Fanconi, syndrome of
Witkop syndrome of
Wl syndrome
Wolcott-Rallison, syndrome of
Wolf-Parkinson-White, syndrome of
Wolf Zimmermann syndrome of
Wolf-Hirschhorn, syndrome of
Wolfram, syndrome of
Wolman, disease of
Woodhouse sakati syndrome of
Woods black norbury syndrome of
Worster drought syndrome
Worth syndrome of
W syndrome
Wt members blood syndrome

X

Xanthine déshydrogénase, deficit in
Xanthinurie
cérébrotendineuse Xanthomatosis
hereditary Xérocytose
fragile Xeroderma pigmentosum
X, syndrome of the
Xylitol déshydrogénase, deficit in

Y

Yersiniose
Cats eyes, syndrome of the
Eyes of fish, disease of the
Yorifuji okuno, syndrome of
Young madders, syndrome of
Young mc keever squier, syndrome of
Young, syndrome of
Yunis varon, syndrome of

Z

Zadik barak levin, syndrome of
ZAP70, deficit in
Zellweger, syndrome of
Zimmer Taub Sova syndrome of
Zinsser-Adhesive-Engman, syndrome of
Zlotogora, syndrome of
Zollinger-Ellison, syndrome of
Zori Stalker Williams, syndrome of
Zunich-Kaye, syndrome of

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