| ( | |
| () | |
| -ii deficiency | |
| / | |
| // | |
| 1d | |
| 2c | |
| 3-M | |
| 3-methylcrotonyl-coa | |
| 3-methylglutaconic | |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like | |
| 3MC | |
| 3c | |
| 3p- | |
| A | |
| ABCD | |
| ACCES | |
| ADN | |
| ADOCBL | |
| ADULT | |
| AIT | |
| AMED | |
| Aarskog-Scott | |
| Abdominal | |
| Abdominal obesity-metabolic | |
| Ablepharon-macrostomia | |
| Abruzzo-Erickson | |
| Achalasia-addisonianism-alacrimia | |
| Achille | |
| Acrocallosal | |
| Acropectoral | |
| Adams-Oliver | |
| Addison | |
| Advance | |
| Advance sleep phase | |
| Advanced | |
| Advanced sleep phase | |
| Advanced sleep-phase | |
| Agenesis | |
| Agenesis of corpus callosum, cardiac, ocular, and genital | |
| Aicardi | |
| Aicardi-Goutieres | |
| Al | |
| Al Kaissi | |
| Al-Gazali | |
| Al-Gazali-Bakalinova | |
| Al-Raqad | |
| Alacrima | |
| Alacrima, achalasia, and impaired intellectual development | |
| Alagille | |
| Alazami | |
| Alazami-Yuan | |
| Albinism-deafness | |
| Alkuraya-Kucinskas | |
| Allan-Herndon-Dudley | |
| Alopecia | |
| Alopecia, neurologic defects, and endocrinopathy | |
| Alopecia-intellectual | |
| Alopecia-intellectual disability | |
| Alpha-thalassemia | |
| Alpha-thalassemia myelodysplasia | |
| Alpha-thalassemia/impaired | |
| Alpha-thalassemia/impaired intellectual development | |
| Alpha-thalassemia/mental | |
| Alpha-thalassemia/mental retardation | |
| Alport | |
| Alstrom | |
| Alzahrani-Kuwahara | |
| Alzheimer | |
| Amelia | |
| Amelia, posterior, with pelvic and pulmonary hypoplasia | |
| Amelogenesis | |
| Amelogenesis imperfecta, type IG (enamel-renal | |
| Andersen | |
| Angelman | |
| Antiphospholipid | |
| Antley-Bixler | |
| Apert | |
| Arboleda-Tham | |
| Arnold-Chiari | |
| Aromatase | |
| Aromatase excess | |
| Arterial | |
| Arterial tortuosity | |
| Arts | |
| Asperger | |
| Ataxia | |
| Ataxia, intention tremor, and hypotonia | |
| Ataxia-pancytopenia | |
| Atelis | |
| Athabaskan | |
| Athabaskan brainstem dysgenesis | |
| Atrioventricular | |
| Atrioventricular septal defect, partial, with heterotaxy | |
| Au-Kline | |
| Auriculocondylar | |
| Autoimmune | |
| Autoimmune lymphoproliferative | |
| Autoimmune polyendocrinopathy | |
| Autoinflammation | |
| Autoinflammation, antibody deficiency, and immune dysregulation | |
| Autoinflammation, panniculitis, and dermatosis | |
| Autoinflammatory | |
| Autoinflammatory-pancytopenia | |
| Axenfeld-Rieger | |
| Ayme-Gripp | |
| B1 | |
| B2 | |
| B6 | |
| B9 | |
| BDV | |
| Bachmann-Bupp | |
| Bainbridge-Ropers | |
| Baker-Gordon | |
| Baller-Gerold | |
| Bamforth-Lazarus | |
| Baraitser-Winter | |
| Baralle-Macken | |
| Barber-Say | |
| Bardet-Biedl | |
| Bare | |
| Bare lymphocyte | |
| Bart-Pumphrey | |
| Barth | |
| Bartter | |
| Basal | |
| Basal cell nevus | |
| Basan | |
| Basel-Vanagait-Smirin-Yosef | |
| Basilicata-Akhtar | |
| Bazex | |
| Beare-Stevenson | |
| Beare-Stevenson cutis gyrata | |
| Beaulieu-Boycott-Innes | |
| Beck-Fahrner | |
| Beckwith-Wiedemann | |
| Behr | |
| Bell | |
| Bent | |
| Bent bone dysplasia | |
| Berger | |
| Bernard-Soulier | |
| Best | |
| Biliary | |
| Biliary, renal, neurologic, and skeletal | |
| Birk-Barel | |
| Birk-Landau-Perez | |
| Birt-Hogg-Dube | |
| Bjornstad | |
| Blau | |
| Blepharocheilodontic | |
| Blepharophimosis-impaired | |
| Blepharophimosis-impaired intellectual development | |
| Bloom | |
| Bohring-Opitz | |
| Bone | |
| Bone marrow failure | |
| Bone marrow failure and diabetes mellitus | |
| Bor-Duane | |
| Bor-Duane hydrocephalus contiguous gene | |
| Borjeson-Forssman-Lehmann | |
| Bosch-Boonstra-Schaaf | |
| Bosch-Boonstra-Schaaf optic atrophy | |
| Bosley-Salih-Alorainy | |
| Bosma | |
| Bosma arhinia microphthalmia | |
| Boucher-Neuhauser | |
| Boudin-Mortier | |
| Bowen-Conradi | |
| Brachydactyly-syndactyly | |
| Braddock-Carey | |
| Brain | |
| Brain tumor-polyposis | |
| Branchial | |
| Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism | |
| Branchiooculofacial | |
| Branchiootic | |
| Branchiootorenal | |
| Brittle | |
| Brittle cornea | |
| Brooke-Spiegler | |
| Brown-Vialetto-Van | |
| Brown-Vialetto-Van Laere | |
| Bruck | |
| Brugada | |
| Brunet-Wagner | |
| Brunet-Wagner neurodevelopmental | |
| Brunner | |
| Bryant-Li-Bhoj | |
| Bryant-Li-Bhoj neurodevelopmental | |
| Budd-Chiari | |
| Buratti-Harel | |
| Burn-McKeown | |
| Buschke-Ollendorff | |
| C | |
| C2-C3 | |
| CAE | |
| CAPOS | |
| CARASIL | |
| CATIFA | |
| CATSHL | |
| CBH | |
| CD4+ | |
| CD8+ | |
| CDAGS | |
| CEBALID | |
| CHAND | |
| CHARGE | |
| CHILD | |
| CHIME | |
| CHOPS | |
| CIMDAG | |
| CINCA | |
| CK | |
| CLAPO | |
| CLOVE | |
| COACH | |
| CODAS | |
| COMMAD | |
| CPK | |
| CRASH | |
| Camptodactyly-arthropathy-coxa | |
| Camptodactyly-arthropathy-coxa vara-pericarditis | |
| Cardiac | |
| Cardiac arrhythmia | |
| Cardiac-urogenital | |
| Cardiofaciocutaneous | |
| Cardiofacioneurodevelopmental | |
| Cardiospondylocarpofacial | |
| Carey-Fineman-Ziter | |
| Carpal | |
| Carpal tunnel | |
| Carpenter | |
| Caspase | |
| Caspase 8 lymphadenopathy | |
| Cat | |
| Cat eye | |
| Catel-Manzke | |
| Caudal | |
| Caudal regression | |
| Cayler | |
| Cayler cardiofacial | |
| Cenani-Lenz | |
| Cenani-Lenz syndactyly | |
| Central | |
| Central hypoventilation | |
| Cerebellar | |
| Cerebellar ataxia, impaired intellectual development and dysequilibrium | |
| Cerebellar ataxia, impaired intellectual development, and dysequilibrium | |
| Cerebellar ataxia, impaired intellectual development, and dysquilibrium | |
| Cerebellar ataxia, neuropathy, and vestibular areflexia | |
| Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium | |
| Cerebellar, ocular, craniofacial, and genital | |
| Cerebellofaciodental | |
| Cerebral | |
| Cerebral creatine deficiency | |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma | |
| Cerebral-cerebellar-coloboma | |
| Cerebrocostomandibular | |
| Cerebrooculofacioskeletal | |
| Chanarin-Dorfman | |
| Char | |
| Chediak-Higashi | |
| Chilton-Okur-Chung | |
| Chilton-Okur-Chung neurodevelopmental | |
| Chitayat | |
| Cholestasis-lymphedema | |
| Chopra-Amiel-Gordon | |
| Chromosome | |
| Chromosome 10q22.3-q23.2 deletion | |
| Chromosome 10q26 deletion | |
| Chromosome 11p13 deletion | |
| Chromosome 11p15-p14 deletion | |
| Chromosome 13q14 deletion | |
| Chromosome 13q33-q34 deletion | |
| Chromosome 14q11-q22 deletion | |
| Chromosome 15q11.2 deletion | |
| Chromosome 15q13.3 microdeletion | |
| Chromosome 15q14 deletion | |
| Chromosome 15q25 deletion | |
| Chromosome 15q26-qter deletion | |
| Chromosome 16p11.2 deletion | |
| Chromosome 16p11.2 duplication | |
| Chromosome 16p12.1 deletion | |
| Chromosome 16p12.2-p11.2 deletion | |
| Chromosome 16p13.3 deletion | |
| Chromosome 16p13.3 duplication | |
| Chromosome 16q12 duplication | |
| Chromosome 16q22 deletion | |
| Chromosome 17p13.1 deletion | |
| Chromosome 17p13.3 duplication | |
| Chromosome 17q11.2 deletion | |
| Chromosome 17q11.2 duplication | |
| Chromosome 17q12 deletion | |
| Chromosome 17q12 duplication | |
| Chromosome 17q21.31 duplication | |
| Chromosome 17q23.1-q23.2 deletion | |
| Chromosome 17q23.1-q23.2 duplication | |
| Chromosome 18p deletion | |
| Chromosome 18q deletion | |
| Chromosome 19p13.13 deletion | |
| Chromosome 19p13.13 duplication | |
| Chromosome 19q13.11 deletion | |
| Chromosome 1p35 deletion | |
| Chromosome 1p36 deletion | |
| Chromosome 1p36.33 duplication | |
| Chromosome 1q21.1 deletion | |
| Chromosome 1q21.1 duplication | |
| Chromosome 1q41-q42 deletion | |
| Chromosome 22q11.2 deletion | |
| Chromosome 22q11.2 microduplication | |
| Chromosome 22q13 duplication | |
| Chromosome 2p12-p11.2 deletion | |
| Chromosome 2p16.1-p15 deletion | |
| Chromosome 2q31.1 duplication | |
| Chromosome 2q31.2 deletion | |
| Chromosome 2q37 deletion | |
| Chromosome 3q13.31 deletion | |
| Chromosome 3q29 microdeletion | |
| Chromosome 3q29 microduplication | |
| Chromosome 4q21 deletion | |
| Chromosome 4q32.1-q32.2 triplication | |
| Chromosome 5p13 duplication | |
| Chromosome 5q12 deletion | |
| Chromosome 5q14.3 deletion | |
| Chromosome 6pter-p24 deletion | |
| Chromosome 6q11-q14 deletion | |
| Chromosome 6q25-q25 deletion | |
| Chromosome 7q11.23 deletion | |
| Chromosome 7q11.23 duplication | |
| Chromosome 8p11 myeloproliferative | |
| Chromosome 8q21.11 deletion | |
| Chromosome 9p deletion | |
| Chromosome Xp11.23-p11.22 duplication | |
| Chromosome Xp11.3 deletion | |
| Chromosome Xp21 deletion | |
| Chromosome Xq13 duplication | |
| Chromosome Xq26.3 duplication | |
| Chromosome Xq27.3-q28 duplication | |
| Chromosome Xq28 duplication | |
| Chudley-McCullough | |
| Chung-Jansen | |
| Cleft | |
| Cleft lip/palate-ectodermal dysplasia | |
| Cockayne | |
| Cocoon | |
| Coffin-Lowry | |
| Coffin-Siris | |
| Cohen | |
| Cohen-Gibson | |
| Cold-induced | |
| Cold-induced sweating | |
| Cole-Carpenter | |
| Combined | |
| Combined osteogenesis imperfecta and Ehlers-Danlos | |
| Cone-rod | |
| Cone-rod synaptic disorder | |
| Congenital | |
| Congenital anomalies of kidney and urinary tract | |
| Congenital heart defects and skeletal malformations | |
| Congenital short bowel | |
| Conotruncal | |
| Conotruncal anomaly face | |
| Contractures | |
| Contractures, pterygia, and spondylocarpostarsal fusion | |
| Contractures, pterygia, and spondylocarpotarsal fusion | |
| Cornelia | |
| Cornelia de Lange | |
| Costello | |
| Cousin | |
| Cowchock | |
| Cowden | |
| Craniofacial | |
| Craniofacial anomalies and anterior segment dysgenesis | |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development | |
| Craniofacial-deafness-hand | |
| Craniofacioskeletal | |
| Crigler-Najjar | |
| Crohn | |
| Crouzon | |
| Culler-Jones | |
| Currarino | |
| Curry-Jones | |
| Cushing | |
| Cutaneous | |
| Cutaneous telangiectasia and cancer | |
| D3 | |
| DEEAH | |
| DEGCAGS | |
| DOORS | |
| Dalton | |
| Dandy-Walker | |
| De | |
| De Sanctis-Cacchione | |
| Delayed | |
| Delayed sleep phase | |
| Delpire-McNeill | |
| Dentici-Novelli | |
| Dentici-Novelli neurodevelopmental | |
| Denys-Drash | |
| Desanto-Shinawi | |
| DiGeorge | |
| Dias-Logan | |
| Diencephalic-mesencephalic | |
| Diencephalic-mesencephalic junction dysplasia | |
| Diets-Jongmans | |
| Diffuse | |
| Diffuse gastric and lobular breast cancer | |
| Donnai-Barrow | |
| Donohue | |
| Down | |
| Dravet | |
| Duane | |
| Duane retraction | |
| Duane-radial | |
| Duane-radial ray | |
| Dubin-Johnson | |
| Dursun | |
| Dworschak-Punetha | |
| Dworschak-Punetha neurodevelopmental | |
| E | |
| EDICT | |
| EEC | |
| EEG | |
| EMG | |
| ENDOVE | |
| ERG | |
| Ebstein | |
| Ectodermal | |
| Ectodermal dysplasia-syndactyly | |
| Ectodermal dysplasia/short stature | |
| Ectodermal dysplasia/skin fragility | |
| Ectrodactyly | |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate | |
| Ehlers-Danlos | |
| Eiken | |
| Ellis-van | |
| Ellis-van Creveld | |
| Elsahy-Waters | |
| Emanuel | |
| Emberger | |
| Enhanced | |
| Enhanced S-cone | |
| Epidermolysis | |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic | |
| Episodic | |
| Episodic ataxia/myokymia | |
| Episodic pain | |
| Escobar | |
| Even-plus | |
| Exfoliation | |
| FAV | |
| FG | |
| FILS | |
| FINCA | |
| Facial | |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth | |
| Fallot | |
| Familial | |
| Familial apolipoprotein gene cluster deletion | |
| Familial cold autoinflammatory | |
| Familial cold inflammatory | |
| Fanconi | |
| Fanconi renotubular | |
| Fanconi-Bickel | |
| Faundes-Banka | |
| Feingold | |
| Ferguson-Bonni | |
| Ferguson-Bonni neurodevelopmental | |
| Filippi | |
| Floating-Harbor | |
| Focal | |
| Focal segmental glomerulosclerosis and neurodevelopmental | |
| Fontaine | |
| Fontaine progeroid | |
| Forsythe-Wakeling | |
| Fragile | |
| Fragile X | |
| Fragile X tremor/ataxia | |
| Frank-ter | |
| Frank-ter Haar | |
| Fraser | |
| Frasier | |
| Frias | |
| Fuhrmann | |
| G | |
| GAND | |
| GAPO | |
| GH | |
| GLOW | |
| GLUT1 | |
| GLUT1 deficiency | |
| GRACILE | |
| Gabriele-de | |
| Gabriele-de Vries | |
| Galloway-Mowat | |
| Gardner | |
| Gastrointestinal | |
| Gastrointestinal defects and immunodeficiency | |
| Gastrointestinal stromal tumor/GIST-plus | |
| Genitopatellar | |
| Genitourinary | |
| Genitourinary and/or/brain malformation | |
| Ghosal | |
| Ghosal hematodiaphyseal | |
| Gilbert | |
| Gilles | |
| Gilles de la Tourette | |
| Gillespie | |
| Gillessen-Kaesbach-Nishimura | |
| Gitelman | |
| Glass | |
| Goeminne | |
| Goeminne TKCR | |
| Goldberg-Shprintzen | |
| Goldberg-Shprintzen megacolon | |
| Grange | |
| Gray | |
| Gray platelet | |
| Greig | |
| Greig cephalopolysyndactyly | |
| Griscelli | |
| Groupe | |
| Gustavson | |
| Guttmacher | |
| HARP | |
| HELIX | |
| HELLP | |
| Haim-Munk | |
| Hajdu-Cheney | |
| Halperin-Birk | |
| Hamamy | |
| Hand-foot-uterus | |
| Hao-Fountain | |
| Hardikar | |
| Harel-Yoon | |
| Hartsfield | |
| Hay-Wells | |
| Heart | |
| Heart and brain malformation | |
| Heart-hand | |
| Heimler | |
| Helsmoortel-van | |
| Helsmoortel-van der Aa | |
| Hemolytic | |
| Hemolytic uremic | |
| Hengel-Maroofian-Schols | |
| Hennekam | |
| Hennekam lymphangiectasia-lymphedema | |
| Hermansky-Pudlak | |
| Heyn-Sproul-Jackson | |
| Hiatt-Neu-Cooper | |
| Hiatt-Neu-Cooper neurodevelopmental | |
| Hirschsprung | |
| Histiocytosis-lymphadenopathy | |
| Histiocytosis-lymphadenopathy plus | |
| Hodgkin | |
| Holt-Oram | |
| Huriez | |
| Hyaline | |
| Hyaline fibromatosis | |
| Hydrolethalus | |
| Hyper-IgD | |
| Hyper-IgE | |
| Hyper-IgE recurrent infection | |
| Hypereosinophilic | |
| Hyperferritinemia-cataract | |
| Hyperimmunoglobulin | |
| Hyperimmunoglobulin G1 | |
| Hyperinsulinism-hyperammonemia | |
| Hyperornithinemia-hyperammonemia-homocitrullinemia | |
| Hyperparathyroidism-jaw | |
| Hyperparathyroidism-jaw tumor | |
| Hyperphosphatasia | |
| Hyperphosphatasia with impaired intellectual development | |
| Hypersensitivity | |
| Hypertension | |
| Hypertension and brachydactyly | |
| Hypertrichotic | |
| Hypertrichotic osteochondrodysplasia (Cantu | |
| Hypocalcemia | |
| Hypocalcemia, autosomal dominant, with Bartter | |
| Hypogonadotropic | |
| Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann | |
| Hypoparathyroidism-retardation-dysmorphism | |
| Hypoplastic | |
| Hypoplastic left heart | |
| Hypotonia | |
| Hypotonia, ataxia, and delayed development | |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect | |
| Hypotonia-cystinuria | |
| Hypotrichosis-lymphedema-telangiectasia | |
| Hypotrichosis-lymphedema-telangiectasia-renal | |
| Hypotrichosis-lymphedema-telangiectasia-renal defect | |
| Hz | |
| I | |
| IFAP | |
| II | |
| III | |
| IMAGE | |
| IMAGE-I | |
| IRM | |
| IV | |
| IVIC | |
| IX | |
| Ichthyosis | |
| Ichthyosis prematurity | |
| Ichthyosis, follicular, with atrichia and photophobia | |
| IgE | |
| IgG | |
| IgM | |
| Imagawa-Matsumoto | |
| Imerslund-Grasbeck | |
| Immune | |
| Immune dysregulation and systemic hyperinflammation | |
| Immunodeficiency-centromeric | |
| Immunodeficiency-centromeric instability-facial anomalies | |
| Infantile | |
| Infantile liver failure | |
| Intellectual | |
| Intellectual disability and myopathy | |
| Intellectual disability-hypotonic facies | |
| Intestinal | |
| Intestinal dysmotility | |
| Ischiocoxopodopatellar | |
| Jaberi-Elahi | |
| Jackson-Weiss | |
| Jacobsen | |
| Jalili | |
| Jansen | |
| Jansen de Vries | |
| Jawad | |
| Jervell | |
| Jervell and Lange-Nielsen | |
| Johanson-Blizzard | |
| Joubert | |
| Juberg-Hayward | |
| Juvenile | |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia | |
| KBG | |
| KINSSHIP | |
| Kabuki | |
| Kagami-Ogata | |
| Kahrizi | |
| Kaufman | |
| Kaufman oculocerebrofacial | |
| Kaya-Barakat-Masson | |
| Keipert | |
| Kenny-Caffey | |
| Keppen-Lubinsky | |
| Keratitis-ichthyosis-deafness | |
| Keratoderma-ichthyosis-deafness | |
| Keutel | |
| Khan-Khan-Katsanis | |
| Kilquist | |
| Kindler | |
| King-Denborough | |
| Kleefstra | |
| Klippel-Feil | |
| Klippel-Trenaunay-Weber | |
| Knobloch | |
| Kohlschutter-Tonz | |
| Kondoh | |
| Koolen-De | |
| Koolen-De Vries | |
| Kosaki | |
| Kosaki overgrowth | |
| Kowarski | |
| Kufor-Rakeb | |
| Kury-Isidor | |
| LADD | |
| LCR | |
| LEOPARD | |
| LIG4 | |
| Lamb-Shaffer | |
| Langerhans | |
| Larsen | |
| Larsen-like | |
| Lateral | |
| Lateral meningocele | |
| Laurence-Moon | |
| Laurin-Sandrow | |
| Leber | |
| Legius | |
| Leri | |
| Leri pleonosteosis chromosome duplication | |
| Lesch-Nyhan | |
| Lessel-Kreienkamp | |
| Lessel-Kubisch | |
| Lethal | |
| Lethal congenital contractural | |
| Lethal congenital contracture | |
| Leukemia | |
| Leukemia, megakaryoblastic, with or without Down | |
| Leukemia, transient, of Down | |
| Leukoencephalopathy | |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression | |
| Leukoencephalopathy, motor delay, spasticity, and dysarthria | |
| Levy-Shanske | |
| Li-Campeau | |
| Li-Fraumeni | |
| Li-Ghorgani-Weisz-Hubshman | |
| Liang-Wang | |
| Liberfarb | |
| Lichtenstein-Knorr | |
| Liddle | |
| Liebenberg | |
| Limb-mammary | |
| Loeys-Dietz | |
| Long | |
| Long QT | |
| Lopes-Maciel-Rodan | |
| Lowe | |
| Lowry-Wood | |
| Lujan-Fryns | |
| Lung | |
| Lung disease, immunodeficiency, and chromosome breakage | |
| Luo-Schoch-Yamamoto | |
| Luscan-Lumish | |
| Lymphedema-distichiasis | |
| Lymphoproliferative | |
| Lynch | |
| MASA | |
| MASS | |
| MEDNIK | |
| MEHMO | |
| MEND | |
| MIRAGE | |
| Macrocephaly/autism | |
| Macrocephaly/megalencephaly | |
| Majeed | |
| Malan | |
| Malouf | |
| Mammary-digital-nail | |
| Mandibular | |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy | |
| Mandibuloacral | |
| Mandibuloacral dysplasia progeroid | |
| Manitoba | |
| Manitoba oculotrichoanal | |
| Marbach-Rustad | |
| Marbach-Rustad progeroid | |
| Marbach-Schaaf | |
| Marbach-Schaaf neurodevelopmental | |
| Marden-Walker | |
| Marfan | |
| Marfan lipodystrophy | |
| Marinesco-Sjogren | |
| Marshall | |
| Marshall-Smith | |
| Marsili | |
| Martin-Probst | |
| Martsolf | |
| Mast | |
| McCune-Albright | |
| McKusick-Kaufman | |
| McLeod | |
| Meacham | |
| Meckel | |
| Medulloblastoma | |
| Medulloblastoma predisposition | |
| Meester-Loeys | |
| Mega-corpus-callosum | |
| Megacystis-microcolon-intestinal | |
| Megacystis-microcolon-intestinal hypoperistalsis | |
| Megalencephaly-capillary | |
| Megalencephaly-capillary malformation-polymicrogyria | |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus | |
| Meier-Gorlin | |
| Melanocytic | |
| Melanocytic nevus | |
| Melanoma | |
| Melanoma and neural system tumor | |
| Melanoma-pancreatic | |
| Melanoma-pancreatic cancer | |
| Melkersson-Rosenthal | |
| Melnick-Needles | |
| Menke-Hennekam | |
| Mesomelia-synostoses | |
| Metabolic | |
| Microcephaly | |
| Microcephaly, developmental delay, and brittle hair | |
| Microcephaly, epilepsy, and diabetes | |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia | |
| Microcephaly-capillary | |
| Microcephaly-capillary malformation | |
| Microcephaly-micromelia | |
| Microphthalmia/coloboma | |
| Microphthalmia/coloboma and skeletal dysplasia | |
| Miller | |
| Miller-Dieker | |
| Miller-Dieker lissencephaly | |
| Mismatch | |
| Mismatch repair cancer | |
| Mitchell | |
| Mitchell-Riley | |
| Mitochondrial | |
| Mitochondrial DNA depletion | |
| Mitochondrial recessive ataxia | |
| Moebius | |
| Mohr-Tranebjaerg | |
| Monosomy | |
| Monosomy 7 myelodysplasia and leukemia | |
| Morgagni-Stewart-Morel | |
| Mosaic | |
| Mosaic variegated aneuploidy | |
| Mowat-Wilson | |
| Muckle-Wells | |
| Mucopolysaccharidosis-plus | |
| Muenke | |
| Muir-Torre | |
| Mulchandani-Bhoj-Conlin | |
| Mullegama-Klein-Martinez | |
| Multicentric | |
| Multicentric carpotarsal osteolysis | |
| Multiple | |
| Multiple congenital anomalies-hypotonia-seizures | |
| Multiple congenital anomalies-neurodevelopmental | |
| Multiple mitochondrial dysfunctions | |
| Multiple pterygium | |
| Multiple synostoses | |
| Multisystemic | |
| Multisystemic smooth muscle dysfunction | |
| Mungan | |
| Muscular | |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency | |
| Myasthenic | |
| Myelodysplasia | |
| Myelodysplastic | |
| Myhre | |
| Myoectodermal | |
| Myoectodermal gonadal dysgenesis | |
| Ménétrier | |
| NESCAV | |
| NOR | |
| NOR polyagglutination | |
| Nabais | |
| Nabais Sa-de Vries | |
| Nablus | |
| Nablus mask-like facial | |
| Naegeli-Franceschetti-Jadassohn | |
| Nail-patella | |
| Nance-Horan | |
| Neisseria | |
| Nephrogenic | |
| Nephrotic | |
| Nestor-Guillermo | |
| Nestor-Guillermo progeria | |
| Netherton | |
| Neu-Laxova | |
| Neurocardiofaciodigital | |
| Neurodevelopmental | |
| Neurodevelopmental, jaw, eye, and digital | |
| Neurodevelopmental-craniofacial | |
| Neurofacioskeletal | |
| Neurofibromatosis-Noonan | |
| Neuroocular | |
| Neurooculocardiogenitourinary | |
| Nicolaides-Baraitser | |
| Nijmegen | |
| Nijmegen breakage | |
| Nikolsky | |
| Nivelon-Nivelon-Mabille | |
| Nizon-Isidor | |
| Noonan | |
| O'Donnell-Luria-Rodan | |
| Occipital | |
| Occipital horn | |
| Oculoauricular | |
| Oculoectodermal | |
| Oculogastrointestinal | |
| Oculogastrointestinal neurodevelopmental | |
| Oculoskeletodental | |
| Ogden | |
| Ohdo | |
| Okur-Chung | |
| Okur-Chung neurodevelopmental | |
| Oligodontia-colorectal | |
| Oligodontia-colorectal cancer | |
| Oliver-McFarlane | |
| Olmsted | |
| Omenn | |
| Onychodysplasia | |
| Onychodystrophy | |
| Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures | |
| Opitz | |
| Opitz GBBB | |
| Opitz-Kaveggia | |
| Optic | |
| Optic atrophy plus | |
| Orofaciodigital | |
| Osteootohepatoenteric | |
| Osteoporosis-pseudoglioma | |
| Ota | |
| Otodental | |
| Otodental dysplasia chromosome deletion | |
| Otofaciocervical | |
| Otopalatodigital | |
| Ovarian | |
| Ovarian hyperstimulation | |
| PCWH | |
| PEA | |
| PEHO | |
| PERCHING | |
| PEV | |
| Paganini-Miozzo | |
| Pallister-Hall | |
| Pallister-Hall-like | |
| Pallister-Killian | |
| Panic | |
| Panic disorder | |
| Papillon-Lefevre | |
| Papillorenal | |
| Parenti-Mignot | |
| Parenti-Mignot neurodevelopmental | |
| Partington | |
| Pectus | |
| Peeling | |
| Peeling skin | |
| Pelger-Huët | |
| Pendred | |
| Periodic | |
| Periodic fever, immunodeficiency, and thrombocytopenia | |
| Perlman | |
| Perrault | |
| Perry | |
| Persistent | |
| Persistent Mullerian duct | |
| Peters-plus | |
| Pettigrew | |
| Peutz-Jeghers | |
| Pfeiffer | |
| Phelan-McDermid | |
| Pick | |
| Pierpont | |
| Pierre | |
| Pierre Robin | |
| Pierson | |
| Pigmentosum | |
| Pilarowski-Bjornsson | |
| Pitt-Hopkins | |
| Pitt-Hopkins like | |
| Pitt-Hopkins-like | |
| Poirier-Bienvenu | |
| Poirier-Bienvenu neurodevelopmental | |
| Polycystic | |
| Polycystic ovary | |
| Polyendocrine-polyneuropathy | |
| Polyposis | |
| Pontocerebellar | |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency | |
| Popliteal | |
| Popliteal pterygium | |
| Poretti-Boltshauser | |
| Potocki-Lupski | |
| Potocki-Shaffer | |
| Prader-Willi | |
| Premature | |
| Premature aging | |
| Prieto | |
| Primordial | |
| Primordial dwarfism-immunodeficiency-lipodystrophy | |
| Primrose | |
| Proliferative | |
| Proliferative vasculopathy and hydranencephaly-hydrocephaly | |
| Proteasome-associated | |
| Proteasome-associated autoinflammatory | |
| Proteus | |
| Proud | |
| Prune | |
| Prune belly | |
| Pseudo-TORCH | |
| Quincke | |
| RAPADILINO | |
| RAS-associated | |
| RAS-associated autoimmune lymphoproliferative | |
| RHYNS | |
| RIDDLE | |
| ROSAH | |
| Rabin-Pappas | |
| Rabson-Mendenhall | |
| Radiation | |
| Radiation sensitivity/chromosome instability | |
| Radio-Tartaglia | |
| Rafiq | |
| Rahman | |
| Raine | |
| Rapp-Hodgkin | |
| Rauch-Steindl | |
| Raynaud-Claes | |
| Renal | |
| Renal cysts and diabetes | |
| Renpenning | |
| Restless | |
| Restless legs | |
| Retinal | |
| Retinal disease in Usher | |
| Retinal dystrophy, iris coloboma, and comedogenic acne | |
| Retinal dystrophy, juvenile cataracts, and short stature | |
| Rett | |
| Revesz | |
| Reynolds | |
| Rhabdoid | |
| Rhabdoid tumor predisposition | |
| Rieger | |
| Rigidity | |
| Rigidity and multifocal seizure | |
| Ring | |
| Ring chromosome 14 | |
| Ritscher-Schinzel | |
| Roberts-SC | |
| Roberts-SC phocomelia | |
| Robinow | |
| Robinow-Sorauf | |
| Roifman | |
| Roifman-Chitayat | |
| Rothmund-Thomson | |
| Roussy-Levy | |
| Rubinstein-Taybi | |
| Ruijs-Aalfs | |
| S-sulfocystéine | |
| SAOS | |
| SBBYSS | |
| SERKAL | |
| SESAME | |
| SHORT | |
| SIMHA | |
| SLA | |
| SNC | |
| SNP | |
| STAR | |
| Saethre-Chotzen | |
| Salt | |
| Salt and pepper developmental regression | |
| Sandestig-Stefanova | |
| Saul-Wilson | |
| Scalp-ear-nipple | |
| Scanner | |
| Scapuloperoneal | |
| Schaaf-Yang | |
| Schimmelpenning-Feuerstein-Mims | |
| Schinzel-Giedion | |
| Schinzel-Giedion midface retraction | |
| Schopf-Schulz-Passarge | |
| Schuurs-Hoeijmakers | |
| Schwartz-Jampel | |
| Scott | |
| Sd(a) | |
| Sd(a) polyagglutination | |
| Seckel | |
| Segawa | |
| Seizures | |
| Seizures, cortical blindness, microcephaly | |
| Seizures, scoliosis, and macrocephaly | |
| Sengers | |
| Senior-Loken | |
| Sessile | |
| Sessile serrated polyposis cancer | |
| Sezary | |
| Shaheen | |
| Shashi-Pena | |
| Short | |
| Short QT | |
| Short stature-micrognathia | |
| Shprintzen-Goldberg | |
| Shukla-Vernon | |
| Shwachman-Diamond | |
| Sick | |
| Sick sinus | |
| Siddiqi | |
| Sifrim-Hitz-Weiss | |
| Silver | |
| Silver spastic paraplegia | |
| Silver-Russell | |
| Simpson-Golabi-Behmel | |
| Singleton-Merten | |
| Sjogren-Larsson | |
| Skin | |
| Skin fragility-woolly hair | |
| Skraban-Deardorff | |
| Smith-Kingsmore | |
| Smith-Lemli-Opitz | |
| Smith-Magenis | |
| Sneddon | |
| Snijders | |
| Snijders Blok-Campeau | |
| Snijders Blok-Fisher | |
| Sotos | |
| Split-hand/foot | |
| Split-hand/foot malformation 3, gene duplication | |
| Spondylocarpotarsal | |
| Spondylocarpotarsal synostosis | |
| Spondyloocular | |
| Sprengel | |
| Stankiewicz-Isidor | |
| Steel | |
| Stevens-Johnson | |
| Stickler | |
| Stiff | |
| Stiff skin | |
| Stormorken | |
| Stromme | |
| Structural | |
| Structural heart defects and renal anomalies | |
| Sturge-Weber | |
| Stuve-Wiedemann | |
| Sudden | |
| Sudden infant death | |
| Sudden infant death with dysgenesis of the testes | |
| Suleiman-El-Hattab | |
| Supernumerary | |
| Supernumerary der(22)t(8-22) | |
| Sweeney-Cox | |
| TARP | |
| TSH | |
| Takenouchi-Kosaki | |
| Tarsal-carpal | |
| Tarsal-carpal coalition | |
| Tatton-Brown-Rahman | |
| Teebi | |
| Teebi hypertelorism | |
| Temple | |
| Temple-Baraitser | |
| Temtamy | |
| Temtamy preaxial brachydactyly | |
| Tenorio | |
| Tessadori-van | |
| Tessadori-van Haaften neurodevelopmental | |
| Tetra-amelia | |
| Tetraamelia | |
| Thauvin-Robinet-Faivre | |
| Thiamine | |
| Thiamine metabolism dysfunction | |
| Thiamine-responsive | |
| Thiamine-responsive megaloblastic anemia | |
| Thoracoabdominal | |
| Thrombocytopenia-absent | |
| Thrombocytopenia-absent radius | |
| Tietz | |
| Tietz albinism-deafness | |
| Timothy | |
| Tn | |
| Tn polyagglutination | |
| Tolchin-Le | |
| Tolchin-Le Caignec | |
| Tonne-Kalscheuer | |
| Tourette | |
| Townes-Brocks | |
| Townes-Brocks branchiootorenal-like | |
| Traboulsi | |
| Treacher | |
| Treacher Collins | |
| Treacher-Collins | |
| Trichodontoosseous | |
| Trichohepatoenteric | |
| Trichohepatoneurodevelopmental | |
| Trichorhinophalangeal | |
| Triokinase | |
| Triokinase and FMN cyclase deficiency | |
| Triphalangeal | |
| Triphalangeal thumb-polysyndactyly | |
| Trismus-pseudocamptodactyly | |
| Troyer | |
| Tukel | |
| Tumor | |
| Tumor predisposition | |
| Turner | |
| Turnpenny-Fry | |
| UV-sensitive | |
| Ulnar-mammary | |
| Uncombable | |
| Uncombable hair | |
| Urofacial | |
| Uruguay | |
| Uruguay faciocardiomusculoskeletal | |
| Usher | |
| Usmani-Riazuddin | |
| VBIH | |
| VEXAS | |
| VII | |
| VIII | |
| VISS | |
| Van | |
| Van Esch-O'Driscoll | |
| Van Maldergem | |
| Van den Ende-Gupta | |
| Vasculitis | |
| Vasculitis, autoinflammation, immunodeficiency, and hematologic defects | |
| Velocardiofacial | |
| Ventricular | |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency | |
| Verheij | |
| Vertebral | |
| Vertebral, cardiac, renal, and limb defects | |
| Ververi-Brady | |
| Vici | |
| Vissers-Bodmer | |
| Vohwinkel | |
| Vulto-van | |
| Vulto-van Silfout-de Vries | |
| WAGRO | |
| WHIM | |
| Waardenburg | |
| Wagner | |
| Waisman | |
| Warburg | |
| Warburg micro | |
| Warburg-Cinotti | |
| Warsaw | |
| Warsaw breakage | |
| Watson | |
| Weaver | |
| Webb-Dattani | |
| Weill-Marchesani | |
| Weill-Marchesani 4 | |
| Weiss-Kruszka | |
| Werner | |
| West | |
| White-Kernohan | |
| White-Sutton | |
| Wieacker-Wolff | |
| Wiedemann-Rautenstrauch | |
| Wiedemann-Steiner | |
| Williams | |
| Williams-Beuren | |
| Wilms | |
| Wilms tumor, aniridia, genitourinary anomalies and mental retardation | |
| Wilson-Turner | |
| Winchester | |
| Wiskott-Aldrich | |
| Witteveen-Kolk | |
| Wolcott-Rallison | |
| Wolf-Hirschhorn | |
| Wolff-Parkinson-White | |
| Wolfram | |
| Wolfram-like | |
| Woodhouse-Sakati | |
| Woods-Black-Norbury | |
| Wrinkly | |
| Wrinkly skin | |
| XFE | |
| XFE progeroid | |
| XI | |
| XII | |
| XII:c | |
| Xeroderma | |
| Xeroderma pigmentosum, group G/Cockayne | |
| Xeroderma pigmentosum, type F/Cockayne | |
| Xia-Gibbs | |
| Xp11.22 | |
| Xp11.22 microduplication | |
| Xq21 | |
| Xq21 deletion | |
| Xq25 | |
| Xq25 duplication | |
| Yao | |
| Yoon-Bellen | |
| Yoon-Bellen neurodevelopmental | |
| You-Hoover-Fong | |
| Yuan-Harel-Lupski | |
| Yunis-Varon | |
| ZTTK | |
| Zaki | |
| Zimmermann-Laband | |
| a1 | |
| a1 and b | |
| a10 | |
| a3 | |
| a4 | |
| aarskog-scott | |
| abiotrophie | |
| abnormal | |
| abnormal hair | |
| abruzzo-erickson | |
| acampomelic campomelic | |
| acanthosis | |
| accelerated | |
| acetazolamide-responsive | |
| acetyl-coa | |
| achondrogenesis ib | |
| aciduria with | |
| acne | |
| acral punctate | |
| acrocapitofemoral | |
| acrochordon préauriculaire | |
| acrochordon périauriculaire | |
| acrodermatitis | |
| acrodysostosis | |
| acrofacial dysostosis | |
| acromegaloid | |
| acromicric | |
| acropectoral | |
| acropectorovertebral dysplasia | |
| acth-independent macronodular | |
| acth-secreting | |
| acute | |
| acute febrile | |
| acute lymphoblastic | |
| acute lymphoblastic leukemia | |
| acute myeloid | |
| acute nonlymphocytic | |
| acute promyelocytic | |
| acyl-coa | |
| acétabula | |
| adams-oliver | |
| adductor paralysis | |
| adelaide type | |
| adenine dinucleotide synthetase deficiency | |
| adenine phosphoribosyltransferase | |
| adenomatous polyposis | |
| adenosine | |
| adenosine deaminase | |
| adenosyltransferase i/iii | |
| adenylosuccinase | |
| adiponectin | |
| adrenal adenoma somatic | |
| adrenal hyperplasia | |
| adrenal hypoplasia | |
| adrenal insufficiency | |
| adrenocorticotropic | |
| adult | |
| adult onset | |
| adult-onset | |
| agammaglobulinemia | |
| agammaglobulinemia 8b | |
| agammaglobulinémie | |
| age-related cortical susceptibility to | |
| age-related hearing | |
| agenesis of | |
| aggrecan | |
| agnathia-otocephaly | |
| aiblesse | |
| aica-ribosiduria | |
| aicardi | |
| ain-naz | |
| akinesia | |
| al kaissi | |
| al-gazali | |
| al-gazali-bakalinova | |
| al-raqad | |
| alagille | |
| albinism with sensorineural deafness | |
| alcohol dependence | |
| alcohol-induced | |
| alexander disease | |
| alkaline | |
| alkuraya-kucinskas | |
| allan-herndon-dudley | |
| allergic | |
| allo-immunisation fœtomaternelle | |
| alopecia | |
| alopecia areata | |
| alpha-b crystallin-related | |
| alpha-fetoprotein | |
| alpha-methylacetoacetic aciduria | |
| alpha-methylacyl-coa racemase | |
| alpha-thalassemia myelodysplasia | |
| alpha-thalassemia/impaired | |
| alpha-thalassemia/mental retardation | |
| alport | |
| alstrom | |
| alternating hemiplegia | |
| alternating hemiplegia of childhood | |
| alveolar capillary dysplasia with misalignment | |
| alzahrani-kuwahara | |
| alzheimer disease- | |
| ambras | |
| amelogenesis | |
| amelogenesis imperfecta and skeletal | |
| amincissement choriorétinien | |
| amino-acidurie | |
| aminoacidurie | |
| aminoacidurie généralisée | |
| aminoacylase | |
| amish | |
| amorph | |
| amyotrophic lateral | |
| amyotrophic lateral sclerosis | |
| amyotrophic lateral sclerosis-parkinsonism/dementia | |
| anauxetic dysplasia | |
| and | |
| and acne | |
| and autistic features | |
| and autoimmunity | |
| and congenital heart defects | |
| and diabetes | |
| and enteropathy | |
| and episodic | |
| and genital | |
| and immunodeficiency | |
| and impaired | |
| and limb | |
| and myopia | |
| and nail | |
| and neurodegeneration | |
| and palmoplantar keratoderma | |
| and respiratory insufficiency | |
| and sclerosing | |
| and spasticity | |
| and symptomatic | |
| and testicular | |
| androgen | |
| anemie | |
| aneurysmal bone cysts | |
| angelman | |
| angiomatoid | |
| angiopathic | |
| angiotensin i-converting enzyme | |
| anisomastia | |
| ankyrin-b-related | |
| anneau de kayser-fleischer | |
| annular epidermolytic | |
| anomalie choriorétinienne | |
| anophtalmie | |
| anterior maxillary | |
| antibody deficiency | |
| antihélix anormal | |
| antithrombin iii | |
| antitragus | |
| antley-bixler | |
| aortic | |
| aortic valve disease | |
| apert | |
| aplasia cutis congenita | |
| aplastic | |
| apolipoprotein | |
| apolipoprotein c-iii | |
| apolipoprotein gene cluster deletion | |
| arboleda-tham | |
| argininosuccinic aciduria | |
| armfield | |
| arnold-chiari | |
| aromatic l-amino acid decarboxylase | |
| arrhythmogenic right ventricular | |
| arrhythmogenic right ventricular dysplasia | |
| arrhythmogenic right ventricular dysplasia with mild palmoplantar keratoderma and woolly hair | |
| arriérations mentales | |
| arthrite juvénile | |
| arthrochalasia | |
| arthrogrypose | |
| ary-épiglottiques | |
| aréflexie | |
| aspartate aminotransferase serum level of | |
| asperger | |
| aspirin-induced | |
| asthma | |
| asthma-related | |
| atad3 gene cluster | |
| ataxia-pancytopenia | |
| ataxia-telangiectasia | |
| ataxia-telangiectasia-like disorder | |
| atelis | |
| athabascan | |
| atresie biliaire | |
| atrioventricular septal | |
| atrioventricular septal defect | |
| atrophie choriorétinienne | |
| attenuated | |
| auditory | |
| auditory canal | |
| auditory neuropathy and optic | |
| auriculaire hypoplasique/petit | |
| auriculocondylar | |
| autoinflammatory | |
| autoinflammatory-pancytopenia | |
| avellino | |
| axillary | |
| b | |
| bachmann-bupp | |
| baker-gordon | |
| baller-gerold | |
| band | |
| bardet-biedl | |
| bart | |
| bart-pumphrey | |
| basan | |
| basilicata-akhtar | |
| bazex | |
| beaulieu-boycott-innes | |
| beck-fahrner | |
| becker | |
| beckwith-wiedemann | |
| behavioral abnormalities and neuropsychiatric | |
| bent bone dysplasia | |
| benzene toxicity | |
| bernard-soulier | |
| beta-2-adrenoreceptor | |
| bethlem myopathy | |
| bietti crystalline corneoretinal | |
| bilateral | |
| bilateral frontoparietal | |
| bilateral perisylvian | |
| biliary cirrhosis | |
| billuart | |
| biotin-responsive | |
| biotinidase deficiency | |
| birbeck | |
| birk-landau-perez | |
| bjornstad | |
| bladder | |
| bladder cancer | |
| blastome pleuropulmonaire | |
| blau | |
| blepharocheilodontic | |
| blomstrand | |
| bmiq11 | |
| bombay | |
| bone marrow failure and diabetes mellitus | |
| boomerang | |
| bor-duane hydrocephalus | |
| borjeson-forssman-lehmann | |
| bornholm eye disease | |
| borochowitz-cormier-daire | |
| bosma arhinia microphthalmia | |
| bothnia retinal | |
| boucher-neuhauser | |
| brachydactyly-syndactyly | |
| brainstem dysgenesis | |
| branched-chain keto acid dehydrogenase kinase | |
| branchiootic | |
| breast | |
| breast cancer | |
| breast-ovarian | |
| brittle cornea | |
| brody | |
| brooke-spiegler | |
| brown-vialetto-van laere | |
| bruck | |
| brunet-wagner neurodevelopmental | |
| brunner | |
| buratti-harel | |
| burn scar-related | |
| burst-suppression | |
| buruli | |
| buschke-ollendorff | |
| butterfly-shaped | |
| butyrylcholinesterase deficiency | |
| c1s | |
| c2 | |
| c7 deficiency | |
| cabezas | |
| caffey disease | |
| calcanéum | |
| calcific | |
| campomelic | |
| camptodactylie | |
| camptodactylie du majeur | |
| camptodactylie métacarpophalangienne | |
| camptodactylie partielle | |
| camptodactylie sévère | |
| camptodactyly | |
| camptodactyly-arthropathy-coxa vara-pericarditis | |
| camptothecin-resistant | |
| canal atrio-ventriculaire | |
| canal atrio-ventriculaire commun | |
| canal atrioventriculaire | |
| canal auriculoventriculaire | |
| canal carcinoma | |
| canal lacrymo-nasal | |
| canal vertébral | |
| canavan disease | |
| cap myopathy | |
| carbamazepine-induced | |
| carbamoylphosphate synthetase i deficiency | |
| carboxypeptidase | |
| carcinoma | |
| cardiac | |
| cardiac arrhythmia | |
| cardiac arrhythmias | |
| cardiac valvular | |
| cardiac valvular dysplasia | |
| cardiac-urogenital | |
| cardiofacioneurodevelopmental | |
| carey-fineman-ziter | |
| carnitine-acylcarnitine | |
| carotid intimal medial | |
| carotid intimal medial thickness | |
| carpal | |
| carpus curvus | |
| cataract | |
| catecholaminergic | |
| catel-manzke | |
| catifa | |
| catshl | |
| cayler cardiofacial | |
| cbla | |
| cblb | |
| cblf | |
| cblj | |
| cdags | |
| cebalid | |
| cenani-lenz syndactyly | |
| centronuclear | |
| centronuclear myopathy | |
| centrotemporal epilepsy | |
| cerebellar | |
| cerebellar ataxia | |
| cerebellar ataxia brain abnormalities and cardiac | |
| cerebellar ataxia deafness | |
| cerebellar ataxia neuropathy | |
| cerebellar atrophy with seizures and | |
| cerebellar hypoplasia | |
| cerebellar hypoplasia/atrophy epilepsy | |
| cerebral | |
| cerebral arteriopathy with subcortical infarcts and | |
| cerebral creatine deficiency | |
| cerebral dysgenesis | |
| cerebral-cerebellar-coloboma | |
| cerebrocostomandibular | |
| cerebrooculofacioskeletal | |
| cerebroretinal microangiopathy with calcifications and | |
| cerebroretinal microangiopathy with calcifications and cysts | |
| cerebrovascular | |
| cervical carcinoma | |
| chambre antérieure | |
| chanarin-dorfman | |
| chand | |
| charcot-marie-tooth | |
| charcot-marie-tooth disease | |
| charcot-marie-tooth disease axonal | |
| charcot-marie-tooth disease foot | |
| charles osborne | |
| charlevoix-saguenay | |
| chediak-higashi | |
| cheyne-stokes | |
| chilblain | |
| childhood | |
| childhood-onset | |
| childhood-onset stress-induced | |
| chitotriosidase | |
| cholestasis-lymphedema | |
| cholesteryl | |
| chondrodysplasie métaphysaire | |
| chopra-amiel-gordon | |
| chops | |
| choroid plexus | |
| choréo-athetoïdes | |
| choréo-athétose | |
| christ-siemens-touraine | |
| christianson | |
| chromosome 6pter-p24 deletion | |
| chung-jansen | |
| ciliary | |
| cinca | |
| cincinnati | |
| cisplatin-induced | |
| ck | |
| claes-jensen | |
| clapo | |
| claude bernard-horner | |
| cleft palate proliferative retinopathy and developmental | |
| cleft palate with | |
| clinodactylie | |
| clouston | |
| clumped | |
| clumsy | |
| cockayne | |
| cofactor ii | |
| cohen-gibson | |
| col du fémur | |
| colchicine | |
| colobome choriorétinien | |
| colobome choroïdien | |
| colobome de la paupière | |
| colobome de la paupière inférieure | |
| colobome irien | |
| colobome oculaire | |
| combined | |
| combined immunodeficiency and megaloblastic anemia with or | |
| combined immunodeficiency with microcephaly growth retardation | |
| compartement stéréotypique | |
| compton-north | |
| congenital | |
| congenital amaurosis | |
| congenital amegakaryocytic | |
| congenital anomalies-hypotonia-seizures | |
| congenital anomalies-neurodevelopmental | |
| congenital bilateral | |
| congenital cataract | |
| congenital cataracts | |
| congenital generalized | |
| congenital heart defects | |
| congenital myopathy with excess of muscle spindles | |
| congenital nuclear | |
| congenital short bowel | |
| congenital stationary | |
| congenital with brain and eye | |
| congenital with impaired | |
| congenital with inner ear | |
| congenital with structured cores | |
| congenital without impaired | |
| conotruncal anomaly | |
| conotruncal heart | |
| contractural arachnodactyly congenital | |
| coralliform | |
| corne ventrale | |
| cornelia de lange | |
| cornée | |
| coronary artery | |
| coronary artery disease | |
| cortex cérébral petit | |
| costo-chondrales | |
| coumarin resistance | |
| cpt ii | |
| cranioectodermal dysplasia | |
| craniofacial | |
| craniofacial-deafness-hand | |
| craniofacial-skeletal-dermatologic | |
| craniolenticulosutural | |
| craniometaphyseal | |
| craniosynostosis with radiohumeral | |
| creatine phosphokinase | |
| creutzfeldt-jakob | |
| creutzfeldt-jakob disease | |
| crigler-najjar | |
| crohn | |
| crohn disease | |
| crohn disease-associated growth | |
| crouzon | |
| cryohydrocytosis with neurologic | |
| crâniosynostose | |
| crâniosynostose prématurée | |
| culler-jones | |
| currarino | |
| curry-jones | |
| curth-macklin | |
| cystic fibrosis | |
| cystoid | |
| cysts 2a | |
| cytochrome-c oxydase | |
| czech | |
| céphaline | |
| d-glyceric aciduria | |
| dandy-walker | |
| danon | |
| darier | |
| davignon-chauveau | |
| ddb-negative subtype | |
| deafness autosomal recessive | |
| debrisoquine | |
| decreased urinary activity | |
| defaillance cardiaque | |
| dehydrated hereditary | |
| delpire-mcneill | |
| delta-beta thalassemia | |
| dentatorubral-pallidoluysian | |
| dentin | |
| dentinogenesis | |
| denys-drash | |
| dermatite exfoliatrice | |
| dermite | |
| desanto-shinawi | |
| desbuquois dysplasia | |
| desmoid disease | |
| developmental delay | |
| developmental delay with short stature | |
| di rocco | |
| diabète juvénile | |
| diamond blackfan | |
| diamond-blackfan | |
| diamètre antéro-postérieur | |
| diaphyseal medullary stenosis with malignant fibrous | |
| digenic | |
| digenic form | |
| digenic gjb2/ | |
| dihydrolipoamide dehydrogenase | |
| dihydropyrimidine dehydrogenase | |
| dilated 1b | |
| dilated cardiomyopathy with woolly hair | |
| dimethylglycine dehydrogenase | |
| dimélie fibulaire | |
| disordered | |
| disordered steroidogenesis | |
| disseminated superficial actinic | |
| distichiasis | |
| dminnution | |
| donnai-barrow | |
| donohue | |
| dowling-degos | |
| doyne honeycomb degeneration of retina | |
| dravet | |
| drug | |
| drug-induced liver injury | |
| dubin-johnson | |
| ductus | |
| dursun | |
| dyschromatosis | |
| dyskeratosis | |
| dysostose mandibulo-faciale | |
| dysostosis | |
| dysostosis multiplex | |
| dysplasia progeroid | |
| dysplasia with congenital | |
| dyssegmental | |
| dystonia | |
| dystonia-parkinsonism | |
| dystrophie choriorétinienne | |
| dysérythropoïèse congénitale | |
| dégénérescence choriorétinienne progressive | |
| e55 | |
| east texas | |
| ectodermal | |
| ectodermal dysplasia | |
| ectodermal dysplasia-syndactyly | |
| ectodermal dysplasia/short stature | |
| ectopia lentis | |
| edict | |
| eeg anormal | |
| electromyogramme anormal | |
| electrorétinogramme | |
| ellis-van creveld | |
| emg | |
| emphysema due to aat | |
| enamel-renal | |
| encephalopathy | |
| encephalopathy with neuropsychiatric features | |
| encéphalographie gazeuse | |
| endocrine-cerebroosteodysplasia | |
| endothelial | |
| enlarged vestibular | |
| enlarged vestibular aqueduct | |
| epicanthus | |
| epidermodysplasia | |
| epidermolytic hyperkeratosis | |
| epilépsie | |
| epiphyses | |
| episodic | |
| episodic kinesigenic dyskinesia | |
| erg aboli | |
| erg anormal | |
| erythrokeratodermia variabilis | |
| escobar | |
| esophageal | |
| estrogen | |
| ethylmalonic | |
| ewing | |
| exocrine pancreatic insufficiency | |
| extraoral halitosis | |
| exudative vitreoretinopathy | |
| f95 - tics | |
| fabry disease | |
| facial paresis | |
| facioscapulohumeral | |
| factor xi | |
| factor xiiia | |
| fanconi | |
| fanconi renotubular | |
| fascioscapulohumeral | |
| fast-channel | |
| fatty liver acute | |
| faundes-banka | |
| fazio-londe | |
| feingold | |
| female-limited | |
| female-specific] | |
| fente labio-palatine | |
| fente palatine submuqueuse | |
| fente palatine/labiale | |
| ferguson-bonni neurodevelopmental | |
| ferritinémie | |
| fetal | |
| fibrocalculous pancreatic | |
| fibromuscular | |
| fibrosis lung | |
| fibula rudimentaire | |
| finca | |
| finkel | |
| finnish | |
| fissure palatine | |
| fleck | |
| fleck retina | |
| fletcher factor | |
| follicular lymphoma | |
| fontaine progeroid | |
| fosse postérieure | |
| frank-ter haar | |
| fraser | |
| frasier | |
| freeman-sheldon | |
| french-canadian | |
| frias | |
| friedreich | |
| friedreich ataxia | |
| friedreich ataxia with retained | |
| frontotemporal | |
| frontotemporal dementia and/or | |
| frontotemporal lobar degeneration | |
| frontotemporal lobar degeneration with ubiquitin-positive | |
| fuchs | |
| fuhrmann | |
| fumarase deficiency | |
| fundus | |
| fémur | |
| galactokinase deficiency with | |
| galactosemia iv | |
| gand | |
| gapo | |
| gastric | |
| gastric adenocarcinoma and proximal polyposis of the | |
| gastrointestinale | |
| gelatinous drop-like | |
| geleophysic dysplasia | |
| geniospasm | |
| geroderma osteodysplasticum | |
| gerstmann-straussler disease | |
| gh-secreting | |
| giant axonal | |
| gilles de la tourette | |
| gillessen-kaesbach-nishimura | |
| gitelman | |
| glaucoma 1a | |
| glaucoma 1b | |
| glaucoma 1c | |
| glaucoma 1d primary open angle | |
| glaucoma 3a | |
| globoside | |
| glomerulopathy with fibronectin | |
| glomuvenous | |
| glomérulopathie | |
| glucocorticoid | |
| glucocorticoid-remediable | |
| glutaric acidemia | |
| glutaric acidemia iia | |
| glutaric aciduria iii | |
| glutathione synthetase | |
| glycerol | |
| glycine | |
| glycine encephalopathy with normal serum | |
| glycoprotein iv | |
| glycosylphosphatidylinositol | |
| glycosylphosphatidylinositol biosynthesis defect | |
| glyoxalase ii | |
| glénoïde hypoplasique | |
| goeminne tkcr | |
| goldberg-shprintzen megacolon | |
| gpapp | |
| graft-versus-host | |
| granulomatosis with polyangiitis | |
| gray platelet | |
| greenberg skeletal | |
| greig cephalopolysyndactyly | |
| griscelli | |
| guttmacher | |
| hackman-di donato | |
| hailey-hailey | |
| haim-munk | |
| hair | |
| hajdu-cheney | |
| halperin-birk | |
| hamamy | |
| hamartomas of tongue | |
| hardikar | |
| harel-yoon | |
| harp | |
| hartnup | |
| hartsfield | |
| hashimoto thyroiditis | |
| hearing | |
| heart block | |
| heimler | |
| helicobacter | |
| helsmoortel-van der aa | |
| hemihypertrophy | |
| hemolytic anemia | |
| hemolytic uremic | |
| hemophagocytic lymphohistiocytosis | |
| hemophilia | |
| hemophilia b | |
| hemorrhagic | |
| hemorrhagic diathesis | |
| hemorrhagic telangiectasia | |
| hengel-maroofian-schols | |
| hennekam lymphangiectasia-lymphedema | |
| hepatic | |
| hepatic adenoma somatic | |
| hepatic fibrosis susceptibility | |
| hepatocellular | |
| hepatorenocardiac degenerative | |
| hereditary | |
| hereditary benign | |
| hereditary benign intraepithelial | |
| hereditary congenital | |
| hereditary fibrosing | |
| hereditary hemorrhagic | |
| hereditary motor | |
| hereditary neuralgic | |
| hereditary sensory | |
| herpes-specific | |
| heyn-sproul-jackson | |
| hiatt-neu-cooper neurodevelopmental | |
| high | |
| hirschsprung | |
| hispanic gamma-delta-beta | |
| hiv | |
| hiv/aids | |
| hodgkin | |
| holocarboxylase synthetase deficiency | |
| holoprosencephaly | |
| holt-oram | |
| homocystinuria due to mthfr | |
| homocystinuria-megaloblastic | |
| homocystinurie | |
| hsd10 | |
| humerofemoral hypoplasia with radiotibial ray | |
| hunter-thompson | |
| huntington | |
| huriez | |
| hutchinson-gilford | |
| hyaline fibromatosis | |
| hydatidiform | |
| hydranencephaly with abnormal genitalia | |
| hydro-uretère | |
| hydrocephalus with congenital | |
| hydrocephalus with hirschsprung | |
| hydrolethalus | |
| hygrome kystique | |
| hyperammoniémie légère | |
| hyperekplexie héréditaire | |
| hyperferritinemia-cataract | |
| hyperhidrosis palmaris | |
| hyperimmunoglobulin g1 | |
| hyperinsulinism-hyperammonemia | |
| hyperkeratotic cutaneous capillary-venous | |
| hypermethioninemia with deficiency of | |
| hyperostosis | |
| hyperparathyroidism-jaw | |
| hyperphosphatasia with impaired intellectual development | |
| hyperplasia | |
| hyperplastic primary | |
| hyperréflexie | |
| hypersensitivity | |
| hypertonie | |
| hypertrichosis | |
| hypertrichotic osteochondrodysplasia | |
| hypertriglyceridemia | |
| hypertrophic | |
| hypocalciuric | |
| hypofonctionnement surrenal | |
| hypogonadotropic hypogonadism | |
| hypogonadotropic hypogonadism with | |
| hypogonadotropic hypogonadism with or | |
| hypogonadotropic hypogonadism with or without anosmia | |
| hypogonadotropic hypogonadism without | |
| hypohidrose | |
| hypohidrotic/hair/nail | |
| hypohidrotic/hair/tooth | |
| hypohidrotic/hair/tooth/nail | |
| hypokalemic tubulopathy and | |
| hypomimie | |
| hypomyelinating | |
| hypopigmentation | |
| hypopigmentation rétienne | |
| hypoplasie | |
| hypoplasie foetale | |
| hypoplasie glénoïdienne | |
| hypoplasie maxillaire légère | |
| hypoplasie maxillozygomatique | |
| hypoplasie médullosurrénalienne | |
| hypoplasie odontoïde | |
| hypoplasie olivo-ponto-cérébelleuse | |
| hypoplasie pontocérébelleuse | |
| hypoplastic | |
| hypoplastic left heart | |
| hypoplastic or aplastic tibia with | |
| hyporéflexie | |
| hyporéflexie/aréflexie | |
| hypotonia-cystinuria | |
| hypotrichosis-lymphedema-telangiectasia | |
| hypotrichosis-lymphedema-telangiectasia-renal defect | |
| ichthyosis | |
| ichthyosis prematurity | |
| igf1 | |
| igg2 | |
| ii | |
| iiic | |
| ikegawa | |
| imagawa-matsumoto | |
| imerslund-grasbeck | |
| immunodeficiency | |
| immunodeficiency 1a | |
| immunodeficiency 1b mycobacterial and viral | |
| immunodeficiency 3a with defective | |
| immunodeficiency 3b with defective | |
| immunodeficiency 3c with defective | |
| immunodeficiency 5a | |
| immunodeficiency 7a | |
| immunodeficiency 7b | |
| immunodeficiency and | |
| immunodeficiency and autoimmunity | |
| immunodeficiency and hyperinflammation | |
| immunodeficiency and hypertrophic | |
| immunodeficiency due to defect in | |
| immunodeficiency with | |
| immunodeficiency with autoimmunity and developmental | |
| immunodeficiency with hypogammaglobulinemia and | |
| immunodeficiency with pulmonary | |
| immunodeficiency with systemic | |
| immunodeficiency-centromeric instability-facial anomalies | |
| immunoglobulin | |
| immunoglobulin a deficiency | |
| immunoskeletal dysplasia with neurodevelopmental | |
| impaired | |
| impaired expressive language | |
| impaired intellectual | |
| impaired language and dysmorphic | |
| impaired language and gait | |
| impaired language epilepsy | |
| impaired responsiveness to | |
| impaired speech | |
| impdh2 | |
| infantile cerebellar-retinal degeneration | |
| infantile onset | |
| infantile-onset | |
| infantile-onset multisystem | |
| infection-induced | |
| inflammatory | |
| inhibitor deficiency | |
| insulin resistance | |
| insulin resistance-related | |
| insulin-dependent | |
| insulin-dependent neonatal | |
| insulin-resistant | |
| interleukin- | |
| intervertebral | |
| intolerance | |
| intracranial berry | |
| intrahepatic | |
| intrapulmonaire récidivente | |
| isidor-toutain | |
| Iso Kikuchi | |
| isolated congenital | |
| isovaleric acidemia | |
| iv | |
| ivic | |
| jackson-weiss | |
| jacobsen | |
| james | |
| jansen de vries | |
| john-milton-hagen | |
| joubert | |
| juberg-hayward | |
| junctional 1a | |
| junctional 1b | |
| junctional 2a | |
| junctional 2b | |
| junctional 2c | |
| junctional 3a | |
| junctional 3b | |
| junctional 5a | |
| junctional 5b | |
| juvenile myelomonocytic | |
| juvenile myoclonic | |
| juvenile recurrent | |
| juvenile-onset | |
| k25 | |
| k42 | |
| k65 | |
| kaeser | |
| kallmann | |
| kantaputra type | |
| kanzaki | |
| keipert | |
| kenny-caffey | |
| keppen-lubinsky | |
| keratoconus | |
| keratoendothelitis fugax | |
| keratosis | |
| keutel | |
| khan-khan-katsanis | |
| kimberley | |
| kindler | |
| kininogen | |
| kininogène | |
| kleefstra | |
| klippel-feil | |
| klippel-trenaunay-weber | |
| knobloch | |
| knops | |
| kohlschutter-tonz | |
| kondoh | |
| kosaki overgrowth | |
| kowarski | |
| krabbe | |
| krakow | |
| kufor-rakeb | |
| kyphoscoliotic | |
| l-2-hydroxyglutaric aciduria | |
| l-ferritin | |
| l03 - phlegmon | |
| l50 | |
| l68 | |
| l83 | |
| laing | |
| lambert | |
| laron dwarfism | |
| laurence-moon | |
| laurin-sandrow | |
| lchad | |
| legg-calve-perthes | |
| legius | |
| lenz-majewski hyperostotic | |
| leri pleonosteosis | |
| lesch-nyhan | |
| lessel-kubisch | |
| lethal congenital | |
| lethal congenital contractural | |
| leucoplasie buccale | |
| leukocyte | |
| leukoencephalopathy with dystonia and motor | |
| leukoplasie | |
| levy-shanske | |
| lewy | |
| leyden-moebius | |
| li-campeau | |
| li-ghorgani-weisz-hubshman | |
| liang-wang | |
| liddle | |
| lig4 | |
| lipoma | |
| lipoprotein | |
| liposarcome myxoïde | |
| lipoyltransferase | |
| lissencephaly | |
| lissencephaly with cerebellar | |
| liver | |
| liver disease severe congenital | |
| lopes-maciel-rodan | |
| lowe | |
| lower extremity-predominant | |
| lowry-wood | |
| lumbar | |
| lung | |
| lung cancer | |
| lung disease | |
| luo-schoch-yamamoto | |
| lupus | |
| luscan-lumish | |
| luteinizing | |
| lutheran | |
| lymphangiectasie | |
| lymphangiectasie pulmonaire | |
| lymphangiome | |
| lymphatic | |
| lymphedema-distichiasis | |
| lymphoid hyperplasia and | |
| lynch | |
| lysinuric protein | |
| lysyl hydroxylase | |
| lèvre inférieure éversée | |
| légère splénomégalie | |
| léiomyome utérin | |
| m10 - goutte | |
| machado-joseph disease | |
| macrothrombocytopenia and granulocyte inclusions with or | |
| macular | |
| macular degeneration | |
| malan | |
| male | |
| male infertility | |
| malignant hyperthermia susceptibility | |
| mandibular | |
| mandibuloacral | |
| mandibulofacial dysostosis guion-almeida | |
| mandibulofacial dysostosis with | |
| manitoba | |
| mantle cell | |
| marbach-rustad progeroid | |
| marden-walker | |
| marfan | |
| marfan lipodystrophy | |
| marinesco-sjogren | |
| maroteaux-lamy | |
| marshall | |
| marshall-smith | |
| martin-probst | |
| masp2 | |
| mast | |
| maxillary | |
| mcardle disease | |
| mccune-albright | |
| meacham | |
| mean | |
| meconium | |
| meconium ileus in cystic | |
| mednik | |
| meesmann | |
| meesmann corneal | |
| meester-loeys | |
| megacystis-microcolon-intestinal hypoperistalsis | |
| megaloblastic | |
| meier-gorlin | |
| melanocytic | |
| melanoma-pancreatic | |
| melkersson-rosenthal | |
| melnick-needles | |
| mend | |
| menke-hennekam | |
| menton | |
| merkel | |
| merosin | |
| merosin-positive | |
| mesomelic dysplasia | |
| metacarpal 4- fusion | |
| metachromatic | |
| metatarsus adductus | |
| metatropic | |
| methionine adenosyltransferase | |
| methylmalonate semialdehyde dehydrogenase | |
| methylmalonic aciduria | |
| methylmalonic aciduria and homocysteinemia cblx | |
| methylmalonic aciduria and homocystinuria | |
| methylmalonic aciduria and homocystinuria cbld | |
| mevalonic aciduria | |
| microcephalic osteodysplastic | |
| microcephaly | |
| microcephaly-micromelia | |
| microcoria | |
| micrognathie | |
| microsope | |
| microtia with nasolacrimal duct imperforation | |
| midface hypoplasia | |
| miller | |
| miller-dieker lissencephaly | |
| mineralocorticoid | |
| minicore myopathy with external | |
| missouri | |
| mitchell | |
| mitchell-riley | |
| moebius | |
| mohr-tranebjaerg | |
| molybdenum cofactor deficiency | |
| molybdenum cofactor deficiency b | |
| molybdenum cofactor deficiency c | |
| monocarboxylate | |
| monochromatisme | |
| morgagni-stewart-morel | |
| mowat-wilson | |
| mucoepithelial | |
| mucopolysaccharidosis | |
| mucopolysaccharidosis ih/s | |
| mucopolysaccharidosis ii | |
| mucopolysaccharidosis is | |
| mucopolysaccharidosis iva | |
| mucopolysaccharidosis vii | |
| muir-torre | |
| mulchandani-bhoj-conlin | |
| mullerian duct | |
| multicentric carpotarsal osteolysis | |
| multicentric osteolysis | |
| multinucleated | |
| multivitamin transporter | |
| mungan | |
| murk jansen | |
| musculocontractural | |
| musculoskeletal defects | |
| myasthenia gravis with thymus hyperplasia | |
| myasthenic | |
| myeloperoxidase deficiency | |
| myoclonic 2a | |
| myoclonic-atonic | |
| myoectodermal gonadal dysgenesis | |
| myofibrillar myopathy | |
| myogenic | |
| myokymies faciales | |
| myopathy | |
| myopathy with | |
| myopathy with early-onset paget disease with or without frontotemporal | |
| myopathy with early-onset paget disease without frontotemporal | |
| myopathy with fiber-type | |
| myopathy with lactic | |
| myopathy with lactic acidosis hereditary | |
| myopathy with myalgia | |
| myopia | |
| myopia- | |
| myopic | |
| myosin | |
| myotonia | |
| myotonia congenita | |
| myotonia congenita atypical | |
| myotonic | |
| myxoedème | |
| myxoid liposarcoma | |
| myélodysplasie hypoplasique | |
| méga-uretère | |
| mélanocytose | |
| métacarpien | |
| métacarpiens courts | |
| métaphyse tibiale | |
| métaphyse ulnaire | |
| métaphyses humérales | |
| metaphysal | |
| n18 | |
| nabais | |
| nablus mask-like facial | |
| nail-patella | |
| nanophthalmos | |
| nanophthalmos- | |
| narines antéversées | |
| narines hypoplasiques | |
| naxos disease | |
| nemaline myopathy | |
| neonatal | |
| neonatal severe | |
| nephropathy | |
| nestor-guillermo progeria | |
| neu-laxova | |
| neuroblastoma with hirschsprung | |
| neurocardiofaciodigital | |
| neurocognitive phenotype | |
| neurocutaneous melanosis | |
| neurodevelopmental | |
| neurodevelopmental delay | |
| neurodevelopmental-craniofacial | |
| neurofibromatosis-noonan | |
| neurogenic | |
| neurologic | |
| neurooculocardiogenitourinary | |
| neurosensoriel congénital | |
| neutrophilic dermatosis | |
| nevi flammei | |
| newfoundland rod-cone | |
| nicolaides-baraitser | |
| nijmegen breakage | |
| nivelon-nivelon-mabille | |
| nizon-isidor | |
| nonaka | |
| nonerythroid | |
| nongoitrous | |
| nonimmune chronic | |
| noninsulin-dependent | |
| noninsulin-dependent late | |
| nonspecific | |
| noonan | |
| nor polyagglutination | |
| norman-roberts | |
| north carolina | |
| northern epilepsy | |
| nystagmus | |
| nævus simplex | |
| néphrolithiase oxalique | |
| néphrolithiase oxalo-calcique | |
| néphrolithiase oxalocalcique | |
| néphronophthise juvénile | |
| occiput | |
| ocular | |
| oculocutaneous | |
| oculogastrointestinal neurodevelopmental | |
| oculomotor apraxia | |
| odontochondrodysplasia | |
| of pregnancy | |
| ogden | |
| oguchi | |
| ohdo | |
| okt4 epitope | |
| okur-chung neurodevelopmental | |
| oligodontia-colorectal cancer | |
| oliver-mcfarlane | |
| olmsted | |
| omphalocele | |
| onychodysplasie | |
| opitz-kaveggia | |
| ornithine transcarbamylase deficiency | |
| orofaciodigital | |
| osteogenesis | |
| osteoglophonic | |
| osteosclerotic metaphyseal | |
| otopalatodigital | |
| otospondylomegaepiphyseal | |
| ovarian | |
| ovarian carcinoma | |
| ovarian dysgenesis | |
| oxoglutarate dehydrogenase | |
| oxycéphalie | |
| p1pk | |
| pachyonychia congenita | |
| paganini-miozzo | |
| palais haut | |
| palais hypoplasique | |
| pallister-hall | |
| pallister-hall-like | |
| palmo-plantaire | |
| palmoplantar | |
| palmoplantar hyperkeratosis | |
| palmoplantar hyperkeratosis with squamous cell | |
| palmoplantar keratoderma and woolly hair | |
| palmoplantar keratoderma nagashima | |
| palmoplantar keratoderma with congenital | |
| pancreatic | |
| pancreatic agenesis | |
| pancreatic agenesis and congenital heart defects | |
| pancreatic and cerebellar | |
| pancreatic cancer | |
| pancreatic carcinoma somatic | |
| pancreatic lipase | |
| papillon-lefevre | |
| papillorenal | |
| paragangliomas | |
| paramyotonia congenita | |
| paraparésie | |
| parastremmatic dwarfism | |
| parathyroid | |
| parathyroid adenoma | |
| parathyroid adenoma with cystic | |
| parenti-mignot neurodevelopmental | |
| parietal foramina | |
| parietal foramina with cleidocranial | |
| parkinson | |
| parkinson disease | |
| parkinsonism-dystonia infantile | |
| paroxysmal extreme pain | |
| paroxysmal nocturnal hemoglobinuria | |
| paroxysmal nonkinesigenic | |
| paroxysmal nonkinesigenic dyskinesia | |
| pcwh | |
| peho | |
| pelger-huet | |
| pelger-huët | |
| pelizaeus-merzbacher | |
| pelvic organ | |
| pendred | |
| penttinen | |
| pepck deficiency | |
| perinatal lethal | |
| periodontitis | |
| peripheral | |
| peripheral arterial | |
| peripheral neuropathy with | |
| periventricular heterotopia with microcephaly | |
| periventricular nodular heterotopia | |
| perlman | |
| peroxisomal acyl-coa oxidase | |
| peroxisomal fatty acyl-coa | |
| peroxisome biogenesis | |
| peroxisome biogenesis disorder 0a | |
| peroxisome biogenesis disorder 1a | |
| peroxisome biogenesis disorder 2a | |
| peroxisome biogenesis disorder 3a | |
| peroxisome biogenesis disorder 6a | |
| peroxisome biogenesis disorder 7a | |
| perrault | |
| perry | |
| pettigrew | |
| phalanges | |
| phelan-mcdermid | |
| philtrum | |
| phosphoenolpyruvate carboxykinase | |
| phosphoglycerate dehydrogenase | |
| phosphoribosylaminoimidazole carboxylase | |
| phosphoribosylpyrophosphate synthetase superactivity | |
| phosphorylase | |
| phosphoserine aminotransferase | |
| pierpont | |
| pierre robin | |
| pierson | |
| pigmented nodular adrenocortical | |
| pigmented paravenous chorioretinal | |
| pilarowski-bjornsson | |
| pitt-hopkins | |
| pitt-hopkins like | |
| pitt-hopkins-like | |
| pituitary | |
| pituitary adenoma | |
| pituitary adenoma acth-secreting | |
| pityriasis rubra | |
| pl2f/rara | |
| placental abruption | |
| plantaris | |
| plasminogen | |
| platyspondylic skeletal | |
| pleuropulmonary | |
| pml/rara | |
| pneumopnie | |
| poikiloderma with | |
| poirier-bienvenu neurodevelopmental | |
| poly)pointe-ondes | |
| polyarthrite rhumatoïde | |
| polycystic kidney disease | |
| polycystic kidney disease infantile severe | |
| polycystic kidney disease with or without polycystic liver disease | |
| polycystic lipomembranous osteodysplasia with sclerosing | |
| polycystic liver disease | |
| polycystic liver disease with or without kidney | |
| polycystic ovary | |
| pontocerebellar | |
| pontocerebellar hypoplasia | |
| popliteal | |
| poretti-boltshauser | |
| porphyria | |
| porphyria cutanea | |
| potocki-lupski | |
| potocki-shaffer | |
| prader-willi | |
| preauricular fistulae | |
| preauricular sinus | |
| preauricular tag | |
| preaxial i | |
| pregnancy | |
| pregnancy-induced | |
| preterm premature rupture of the | |
| primary closed-angle | |
| primary sclerosing | |
| primordial dwarfism-immunodeficiency-lipodystrophy | |
| primrose | |
| progeroid | |
| progressiva | |
| prolidase deficiency | |
| proliferative vasculopathy and hydranencephaly-hydrocephaly | |
| properdin | |
| prune belly | |
| pseudoautosomal | |
| pseudofolliculitis | |
| pseudohypoaldosteronism | |
| pseudohypoparathyroidism ia | |
| pseudohypoparathyroidism ib | |
| pseudohypoparathyroidism ic | |
| pseudotumeur molluscoïde | |
| pseudovaginal perineoscrotal | |
| pseudoxanthoma | |
| pseudoxanthoma elasticum-like disorder with | |
| psoriatic | |
| pterygium colli | |
| pulmonary | |
| pulmonary alveolar microlithiasis | |
| punctal pits | |
| punctate type ia | |
| punctate type ib | |
| pyle | |
| pyloric stenosis | |
| pyloric stenosis infantile | |
| pyogenic sterile arthritis | |
| pyogènes | |
| pyridoxamine -phosphate | |
| pyridoxine-dependent | |
| pyridoxine-refractory | |
| pyruvate dehydrogenase | |
| pyruvate dehydrogenase e1-beta | |
| pyruvate dehydrogenase e2 | |
| pyruvate dehydrogenase phosphatase | |
| qtl5 | |
| quadriparésie | |
| r51 - céphalée | |
| r61 - hyperhidrose | |
| rabin-pappas | |
| radioulnar synostosis | |
| radioulnar synostosis with amegakaryocytic thrombocytopenia | |
| radius incurvé | |
| rafiq | |
| rahman | |
| raine | |
| rapadilino | |
| rapp-hodgkin | |
| rauch-steindl | |
| raymond | |
| recombination rate | |
| refsum | |
| renal agenesis | |
| renal and limb | |
| renal and limb defects | |
| renal-hepatic-pancreatic dysplasia | |
| renpenning | |
| respiratory insufficiency | |
| respiratory insufficiency and brain | |
| respiratory papillomatosis | |
| reticular dysgenesis | |
| retinal arterial macroaneurysm with supravalvular pulmonic stenosis | |
| retinal cone dystrophy | |
| retinal degeneration late-onset | |
| rett | |
| revesz | |
| reynolds | |
| rh-induced | |
| rh-null | |
| rhabdoid | |
| rhabdomyosarcoma | |
| riboflavin | |
| riboflavin-responsive | |
| riddle | |
| rieger | |
| ritscher-schinzel | |
| robinow | |
| robinow-sorauf | |
| roifman | |
| roifman-chitayat | |
| rosah | |
| roussy-levy | |
| rubinstein-taybi | |
| ruijs-aalfs | |
| sacral agenesis with vertebral | |
| saethre-chotzen | |
| salih myopathy | |
| salla disease | |
| salt-sensitive | |
| sandestig-stefanova | |
| sandhoff disease infantile | |
| sanfilippo | |
| saul-wilson | |
| sbbyss | |
| scapula | |
| scapulo-péronière progressive | |
| scapuloperoneal | |
| schimke immunoosseous | |
| schistosoma mansoni | |
| schmid | |
| schneckenbecken | |
| schnyder | |
| schopf-schulz-passarge | |
| schuurs-hoeijmakers | |
| scid | |
| sclerosteosis | |
| scott | |
| scrotum | |
| scurvy | |
| secretory | |
| secretory chloride | |
| sensorineural deafness | |
| sensorineural hearing | |
| sensorineural hearing loss | |
| septooptic | |
| serkal | |
| sessile serrated | |
| severe | |
| severe congenital | |
| severe cytomegalovirus | |
| shaheen | |
| sheldon-hall | |
| short stature | |
| short-rib thoracic dysplasia | |
| short-rib thoracic dysplasia with | |
| short-rib thoracic dysplasia with or | |
| short-rib thoracic dysplasia without | |
| shprintzen-goldberg | |
| shukla-vernon | |
| shwachman-diamond | |
| sick sinus | |
| siddiqi | |
| siderius | |
| silver spastic paraplegia | |
| silver-russell | |
| silverman-handmaker | |
| simha | |
| sinus pilonidal | |
| sinus préauriculaire | |
| skeletal | |
| sleepwalking type | |
| slowed | |
| smed strudwick | |
| smith-kingsmore | |
| smith-lemli-opitz | |
| smith-magenis | |
| smith-mccort | |
| sneddon | |
| snijders blok-campeau | |
| snijders blok-fisher | |
| somatic | |
| somatic mosaic | |
| sorbitol dehydrogenase deficiency with peripheral | |
| sotos | |
| sourcils | |
| spahr | |
| spastic | |
| spastic ataxia | |
| spastic paralysis | |
| spastic paraparesis | |
| spastic paraplegia | |
| spastic paraplegia and psychomotor retardation | |
| spastic quadriplegia | |
| spastic quadriplegic | |
| spastic tetraplegia | |
| spastic tetraplegia and axial hypotonia progressive | |
| specific | |
| spermatocytic seminoma | |
| spermatogenic | |
| spermatogenic failure | |
| spheroid | |
| spinocerebellar | |
| spinocerebellar ataxia | |
| spondylocostal dysostosis | |
| spondylodysplastic | |
| spondyloepimetaphyseal | |
| squalene | |
| stankiewicz-isidor | |
| stapes ankylosis with broad thumbs and toes | |
| stein-leventhal | |
| steiner | |
| stevens-johnson | |
| stevenson cutis gyrata | |
| stocco dos santos | |
| striatal | |
| striatonigral degeneration | |
| stromme | |
| sturge-weber | |
| stuve-wiedemann | |
| subcortical laminal heterotopia | |
| subcortical laminar heterotopia | |
| subependymal | |
| succinic semialdehyde dehydrogenase | |
| succinyl coa:3-oxoacid coa transferase deficiency | |
| sudden | |
| sudden cardiac | |
| suleiman-el-hattab | |
| superoxide | |
| supravalvar aortic stenosis | |
| symoens-barnes-gistelinck | |
| syndrome- | |
| synostose astragalo-calcanéenne | |
| synostose astragalocalcanéenne | |
| synostose carpienne | |
| synostose carpométacarpienne | |
| synostose huméroradiale | |
| synostose métacarpienne | |
| synostose métacarpo-phalangienne | |
| synostose métacarpophalangienne | |
| synostose métatarsienne | |
| synostose scapulo-humérale | |
| synostose talocalcanéenne | |
| synostose tarsiennne | |
| synpolydactyly | |
| synthetase deficiency | |
| t4 basse | |
| t68 - hypothermie | |
| takenouchi-kosaki | |
| tangier disease | |
| tarsal-carpal coalition | |
| tateyama | |
| tcr-alpha/beta deficient | |
| teebi hypertelorism | |
| telomere length | |
| temple-baraitser | |
| tenorio | |
| tessadori-van haaften neurodevelopmental | |
| testicular | |
| testicular anomalies with or without congenital heart disease | |
| tetra-amelia | |
| tetraamelia | |
| tetrasomy 8p | |
| thauvin-robinet-faivre | |
| thiel-behnke | |
| thrombocythemia | |
| thrombocytopenia with | |
| thrombophilia | |
| thrombotic thrombocytopenic | |
| thyrotoxic periodic paralysis | |
| tietz albinism-deafness | |
| timothy | |
| to antithrombin pittsburgh | |
| tolbutamide poor metabolizer | |
| torrance | |
| townes-brocks | |
| townes-brocks branchiootorenal-like | |
| transcobalamin ii | |
| treacher collins | |
| treacher-collins | |
| trehalase | |
| trichiase | |
| trichilemmal cyst | |
| trichothiodystrophy | |
| troyer | |
| tsc2 angiomyolipomas | |
| tuberculosis | |
| turner | |
| tylosis with esophageal | |
| ullrich congenital | |
| uncombable hair | |
| uretère double | |
| uric | |
| uridine-cytidineuria] | |
| urocanase deficiency | |
| uruguay | |
| usher | |
| usmani-riazuddin | |
| valve mitrale | |
| valve pulmonaire | |
| van | |
| van buchem | |
| van buchem disease | |
| van den ende-gupta | |
| van der Woude | |
| van der woude | |
| van esch-odriscoll | |
| van maldergem | |
| vascular | |
| vascular disease | |
| vasculite | |
| vasovagal | |
| velocardiofacial | |
| venous | |
| ventricular | |
| ventricular arrhythmias | |
| ventricular septal defect | |
| ventriculomegaly with cystic kidney disease | |
| verheij | |
| vertebral | |
| vesicoureteral | |
| vessie neurogène | |
| vestibulo-oculaire anormal | |
| vestibulocerebellar disorder with predominant ocular signs | |
| vexas | |
| vibratory | |
| visceral | |
| visceral myopathy | |
| vissers-bodmer | |
| vitreoretinopathy with phalangeal epiphyseal | |
| vlcad | |
| von | |
| von Hippel-Lindau | |
| von hippel-lindau | |
| vries | |
| vulto-van silfout-de vries | |
| vésico-urétéral | |
| vésico-urétéro-rénal | |
| waardenburg | |
| wagner | |
| waisman | |
| warfarin | |
| warsaw breakage | |
| watson | |
| weaver | |
| weiss-kruszka | |
| welander | |
| werner | |
| white sponge | |
| white-kernohan | |
| white-sutton | |
| willebrand | |
| williams-beuren | |
| wilson disease | |
| wilson-turner | |
| winchester | |
| wiskott-aldrich | |
| with | |
| with 6xy sex | |
| with abnormal | |
| with acanthosis | |
| with amelogenesis | |
| with ataxia | |
| with atrichia and photophobia | |
| with autoimmunity | |
| with bartter | |
| with brachydactyly | |
| with cerebellar | |
| with cerebellar hypoplasia and cortical | |
| with cerebral leukoencephalopathy and systemic manifestations | |
| with chromosomal instability somatic | |
| with cochlear aplasia | |
| with congenital | |
| with congenital cataract and developmental | |
| with deafness | |
| with developmental | |
| with episodic | |
| with gingival hyperplasia | |
| with heterotaxy | |
| with hypercalciuric | |
| with hyperglycinemia | |
| with hypertrophic | |
| with hypomyelinating | |
| with impaired intellectual | |
| with impaired proprioception and touch | |
| with impaired pupillary | |
| with juvenile macular | |
| with limb | |
| with male infertility | |
| with microcephaly | |
| with microcornea | |
| with microvillus | |
| with migratory circinate | |
| with minicore | |
| with multisystem | |
| with myopathy and facial | |
| with neonatal respiratory | |
| with neurodevelopmental | |
| with neuropsychiatric features and | |
| with neuroserpin | |
| with oculomotor apraxia and hypoalbuminemia | |
| with palmoplantar | |
| with paroxysmal | |
| with peripheral neuropathy | |
| with pyloric | |
| with pyloric atresia | |
| with respiratory insufficiency and bone | |
| with skeletal | |
| with spastic | |
| with spasticity and tapetoretinal degeneration | |
| with subcortical infarcts and | |
| with tufting enteropathy congenital | |
| with woolly hair and | |
| witkop | |
| witteveen-kolk | |
| wolcott-rallison | |
| wolman disease | |
| x-linked | |
| xeroderma | |
| xia-gibbs | |
| xv | |
| yoon-bellen neurodevelopmental | |
| yuan-harel-lupski | |
| yunis-varon | |
| zimmermann-laband | |
| zollinger-ellison | |
| épiphysite vertébrale | |
| épithélioma baso-cellulaire | |
| état | |