feat(streamlit): #1 first iteration of webapp
Browse files- data/exception_list_anonymization.tsv +2998 -0
- data/hp_fr_en_translated_marian_review_lwg.json +0 -0
- img/CHU-montpellier.png +0 -0
- img/logo.png +0 -0
- img/logosfacmontpellier.png +0 -0
- lf_app.py +664 -0
- pyproject.toml +19 -0
data/exception_list_anonymization.tsv
ADDED
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@@ -0,0 +1,2998 @@
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
(
|
| 2 |
+
()
|
| 3 |
+
-ii deficiency
|
| 4 |
+
/
|
| 5 |
+
//
|
| 6 |
+
1d
|
| 7 |
+
2c
|
| 8 |
+
3-M
|
| 9 |
+
3-methylcrotonyl-coa
|
| 10 |
+
3-methylglutaconic
|
| 11 |
+
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like
|
| 12 |
+
3MC
|
| 13 |
+
3c
|
| 14 |
+
3p-
|
| 15 |
+
A
|
| 16 |
+
ABCD
|
| 17 |
+
ACCES
|
| 18 |
+
ADN
|
| 19 |
+
ADOCBL
|
| 20 |
+
ADULT
|
| 21 |
+
AIT
|
| 22 |
+
AMED
|
| 23 |
+
Aarskog-Scott
|
| 24 |
+
Abdominal
|
| 25 |
+
Abdominal obesity-metabolic
|
| 26 |
+
Ablepharon-macrostomia
|
| 27 |
+
Abruzzo-Erickson
|
| 28 |
+
Achalasia-addisonianism-alacrimia
|
| 29 |
+
Achille
|
| 30 |
+
Acrocallosal
|
| 31 |
+
Acropectoral
|
| 32 |
+
Adams-Oliver
|
| 33 |
+
Addison
|
| 34 |
+
Advance
|
| 35 |
+
Advance sleep phase
|
| 36 |
+
Advanced
|
| 37 |
+
Advanced sleep phase
|
| 38 |
+
Advanced sleep-phase
|
| 39 |
+
Agenesis
|
| 40 |
+
Agenesis of corpus callosum, cardiac, ocular, and genital
|
| 41 |
+
Aicardi
|
| 42 |
+
Aicardi-Goutieres
|
| 43 |
+
Al
|
| 44 |
+
Al Kaissi
|
| 45 |
+
Al-Gazali
|
| 46 |
+
Al-Gazali-Bakalinova
|
| 47 |
+
Al-Raqad
|
| 48 |
+
Alacrima
|
| 49 |
+
Alacrima, achalasia, and impaired intellectual development
|
| 50 |
+
Alagille
|
| 51 |
+
Alazami
|
| 52 |
+
Alazami-Yuan
|
| 53 |
+
Albinism-deafness
|
| 54 |
+
Alkuraya-Kucinskas
|
| 55 |
+
Allan-Herndon-Dudley
|
| 56 |
+
Alopecia
|
| 57 |
+
Alopecia, neurologic defects, and endocrinopathy
|
| 58 |
+
Alopecia-intellectual
|
| 59 |
+
Alopecia-intellectual disability
|
| 60 |
+
Alpha-thalassemia
|
| 61 |
+
Alpha-thalassemia myelodysplasia
|
| 62 |
+
Alpha-thalassemia/impaired
|
| 63 |
+
Alpha-thalassemia/impaired intellectual development
|
| 64 |
+
Alpha-thalassemia/mental
|
| 65 |
+
Alpha-thalassemia/mental retardation
|
| 66 |
+
Alport
|
| 67 |
+
Alstrom
|
| 68 |
+
Alzahrani-Kuwahara
|
| 69 |
+
Alzheimer
|
| 70 |
+
Amelia
|
| 71 |
+
Amelia, posterior, with pelvic and pulmonary hypoplasia
|
| 72 |
+
Amelogenesis
|
| 73 |
+
Amelogenesis imperfecta, type IG (enamel-renal
|
| 74 |
+
Andersen
|
| 75 |
+
Angelman
|
| 76 |
+
Antiphospholipid
|
| 77 |
+
Antley-Bixler
|
| 78 |
+
Apert
|
| 79 |
+
Arboleda-Tham
|
| 80 |
+
Arnold-Chiari
|
| 81 |
+
Aromatase
|
| 82 |
+
Aromatase excess
|
| 83 |
+
Arterial
|
| 84 |
+
Arterial tortuosity
|
| 85 |
+
Arts
|
| 86 |
+
Asperger
|
| 87 |
+
Ataxia
|
| 88 |
+
Ataxia, intention tremor, and hypotonia
|
| 89 |
+
Ataxia-pancytopenia
|
| 90 |
+
Atelis
|
| 91 |
+
Athabaskan
|
| 92 |
+
Athabaskan brainstem dysgenesis
|
| 93 |
+
Atrioventricular
|
| 94 |
+
Atrioventricular septal defect, partial, with heterotaxy
|
| 95 |
+
Au-Kline
|
| 96 |
+
Auriculocondylar
|
| 97 |
+
Autoimmune
|
| 98 |
+
Autoimmune lymphoproliferative
|
| 99 |
+
Autoimmune polyendocrinopathy
|
| 100 |
+
Autoinflammation
|
| 101 |
+
Autoinflammation, antibody deficiency, and immune dysregulation
|
| 102 |
+
Autoinflammation, panniculitis, and dermatosis
|
| 103 |
+
Autoinflammatory
|
| 104 |
+
Autoinflammatory-pancytopenia
|
| 105 |
+
Axenfeld-Rieger
|
| 106 |
+
Ayme-Gripp
|
| 107 |
+
B1
|
| 108 |
+
B2
|
| 109 |
+
B6
|
| 110 |
+
B9
|
| 111 |
+
BDV
|
| 112 |
+
Bachmann-Bupp
|
| 113 |
+
Bainbridge-Ropers
|
| 114 |
+
Baker-Gordon
|
| 115 |
+
Baller-Gerold
|
| 116 |
+
Bamforth-Lazarus
|
| 117 |
+
Baraitser-Winter
|
| 118 |
+
Baralle-Macken
|
| 119 |
+
Barber-Say
|
| 120 |
+
Bardet-Biedl
|
| 121 |
+
Bare
|
| 122 |
+
Bare lymphocyte
|
| 123 |
+
Bart-Pumphrey
|
| 124 |
+
Barth
|
| 125 |
+
Bartter
|
| 126 |
+
Basal
|
| 127 |
+
Basal cell nevus
|
| 128 |
+
Basan
|
| 129 |
+
Basel-Vanagait-Smirin-Yosef
|
| 130 |
+
Basilicata-Akhtar
|
| 131 |
+
Bazex
|
| 132 |
+
Beare-Stevenson
|
| 133 |
+
Beare-Stevenson cutis gyrata
|
| 134 |
+
Beaulieu-Boycott-Innes
|
| 135 |
+
Beck-Fahrner
|
| 136 |
+
Beckwith-Wiedemann
|
| 137 |
+
Behr
|
| 138 |
+
Bell
|
| 139 |
+
Bent
|
| 140 |
+
Bent bone dysplasia
|
| 141 |
+
Berger
|
| 142 |
+
Bernard-Soulier
|
| 143 |
+
Best
|
| 144 |
+
Biliary
|
| 145 |
+
Biliary, renal, neurologic, and skeletal
|
| 146 |
+
Birk-Barel
|
| 147 |
+
Birk-Landau-Perez
|
| 148 |
+
Birt-Hogg-Dube
|
| 149 |
+
Bjornstad
|
| 150 |
+
Blau
|
| 151 |
+
Blepharocheilodontic
|
| 152 |
+
Blepharophimosis-impaired
|
| 153 |
+
Blepharophimosis-impaired intellectual development
|
| 154 |
+
Bloom
|
| 155 |
+
Bohring-Opitz
|
| 156 |
+
Bone
|
| 157 |
+
Bone marrow failure
|
| 158 |
+
Bone marrow failure and diabetes mellitus
|
| 159 |
+
Bor-Duane
|
| 160 |
+
Bor-Duane hydrocephalus contiguous gene
|
| 161 |
+
Borjeson-Forssman-Lehmann
|
| 162 |
+
Bosch-Boonstra-Schaaf
|
| 163 |
+
Bosch-Boonstra-Schaaf optic atrophy
|
| 164 |
+
Bosley-Salih-Alorainy
|
| 165 |
+
Bosma
|
| 166 |
+
Bosma arhinia microphthalmia
|
| 167 |
+
Boucher-Neuhauser
|
| 168 |
+
Boudin-Mortier
|
| 169 |
+
Bowen-Conradi
|
| 170 |
+
Brachydactyly-syndactyly
|
| 171 |
+
Braddock-Carey
|
| 172 |
+
Brain
|
| 173 |
+
Brain tumor-polyposis
|
| 174 |
+
Branchial
|
| 175 |
+
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism
|
| 176 |
+
Branchiooculofacial
|
| 177 |
+
Branchiootic
|
| 178 |
+
Branchiootorenal
|
| 179 |
+
Brittle
|
| 180 |
+
Brittle cornea
|
| 181 |
+
Brooke-Spiegler
|
| 182 |
+
Brown-Vialetto-Van
|
| 183 |
+
Brown-Vialetto-Van Laere
|
| 184 |
+
Bruck
|
| 185 |
+
Brugada
|
| 186 |
+
Brunet-Wagner
|
| 187 |
+
Brunet-Wagner neurodevelopmental
|
| 188 |
+
Brunner
|
| 189 |
+
Bryant-Li-Bhoj
|
| 190 |
+
Bryant-Li-Bhoj neurodevelopmental
|
| 191 |
+
Budd-Chiari
|
| 192 |
+
Buratti-Harel
|
| 193 |
+
Burn-McKeown
|
| 194 |
+
Buschke-Ollendorff
|
| 195 |
+
C
|
| 196 |
+
C2-C3
|
| 197 |
+
CAE
|
| 198 |
+
CAPOS
|
| 199 |
+
CARASIL
|
| 200 |
+
CATIFA
|
| 201 |
+
CATSHL
|
| 202 |
+
CBH
|
| 203 |
+
CD4+
|
| 204 |
+
CD8+
|
| 205 |
+
CDAGS
|
| 206 |
+
CEBALID
|
| 207 |
+
CHAND
|
| 208 |
+
CHARGE
|
| 209 |
+
CHILD
|
| 210 |
+
CHIME
|
| 211 |
+
CHOPS
|
| 212 |
+
CIMDAG
|
| 213 |
+
CINCA
|
| 214 |
+
CK
|
| 215 |
+
CLAPO
|
| 216 |
+
CLOVE
|
| 217 |
+
COACH
|
| 218 |
+
CODAS
|
| 219 |
+
COMMAD
|
| 220 |
+
CPK
|
| 221 |
+
CRASH
|
| 222 |
+
Camptodactyly-arthropathy-coxa
|
| 223 |
+
Camptodactyly-arthropathy-coxa vara-pericarditis
|
| 224 |
+
Cardiac
|
| 225 |
+
Cardiac arrhythmia
|
| 226 |
+
Cardiac-urogenital
|
| 227 |
+
Cardiofaciocutaneous
|
| 228 |
+
Cardiofacioneurodevelopmental
|
| 229 |
+
Cardiospondylocarpofacial
|
| 230 |
+
Carey-Fineman-Ziter
|
| 231 |
+
Carpal
|
| 232 |
+
Carpal tunnel
|
| 233 |
+
Carpenter
|
| 234 |
+
Caspase
|
| 235 |
+
Caspase 8 lymphadenopathy
|
| 236 |
+
Cat
|
| 237 |
+
Cat eye
|
| 238 |
+
Catel-Manzke
|
| 239 |
+
Caudal
|
| 240 |
+
Caudal regression
|
| 241 |
+
Cayler
|
| 242 |
+
Cayler cardiofacial
|
| 243 |
+
Cenani-Lenz
|
| 244 |
+
Cenani-Lenz syndactyly
|
| 245 |
+
Central
|
| 246 |
+
Central hypoventilation
|
| 247 |
+
Cerebellar
|
| 248 |
+
Cerebellar ataxia, impaired intellectual development and dysequilibrium
|
| 249 |
+
Cerebellar ataxia, impaired intellectual development, and dysequilibrium
|
| 250 |
+
Cerebellar ataxia, impaired intellectual development, and dysquilibrium
|
| 251 |
+
Cerebellar ataxia, neuropathy, and vestibular areflexia
|
| 252 |
+
Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium
|
| 253 |
+
Cerebellar, ocular, craniofacial, and genital
|
| 254 |
+
Cerebellofaciodental
|
| 255 |
+
Cerebral
|
| 256 |
+
Cerebral creatine deficiency
|
| 257 |
+
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
|
| 258 |
+
Cerebral-cerebellar-coloboma
|
| 259 |
+
Cerebrocostomandibular
|
| 260 |
+
Cerebrooculofacioskeletal
|
| 261 |
+
Chanarin-Dorfman
|
| 262 |
+
Char
|
| 263 |
+
Chediak-Higashi
|
| 264 |
+
Chilton-Okur-Chung
|
| 265 |
+
Chilton-Okur-Chung neurodevelopmental
|
| 266 |
+
Chitayat
|
| 267 |
+
Cholestasis-lymphedema
|
| 268 |
+
Chopra-Amiel-Gordon
|
| 269 |
+
Chromosome
|
| 270 |
+
Chromosome 10q22.3-q23.2 deletion
|
| 271 |
+
Chromosome 10q26 deletion
|
| 272 |
+
Chromosome 11p13 deletion
|
| 273 |
+
Chromosome 11p15-p14 deletion
|
| 274 |
+
Chromosome 13q14 deletion
|
| 275 |
+
Chromosome 13q33-q34 deletion
|
| 276 |
+
Chromosome 14q11-q22 deletion
|
| 277 |
+
Chromosome 15q11.2 deletion
|
| 278 |
+
Chromosome 15q13.3 microdeletion
|
| 279 |
+
Chromosome 15q14 deletion
|
| 280 |
+
Chromosome 15q25 deletion
|
| 281 |
+
Chromosome 15q26-qter deletion
|
| 282 |
+
Chromosome 16p11.2 deletion
|
| 283 |
+
Chromosome 16p11.2 duplication
|
| 284 |
+
Chromosome 16p12.1 deletion
|
| 285 |
+
Chromosome 16p12.2-p11.2 deletion
|
| 286 |
+
Chromosome 16p13.3 deletion
|
| 287 |
+
Chromosome 16p13.3 duplication
|
| 288 |
+
Chromosome 16q12 duplication
|
| 289 |
+
Chromosome 16q22 deletion
|
| 290 |
+
Chromosome 17p13.1 deletion
|
| 291 |
+
Chromosome 17p13.3 duplication
|
| 292 |
+
Chromosome 17q11.2 deletion
|
| 293 |
+
Chromosome 17q11.2 duplication
|
| 294 |
+
Chromosome 17q12 deletion
|
| 295 |
+
Chromosome 17q12 duplication
|
| 296 |
+
Chromosome 17q21.31 duplication
|
| 297 |
+
Chromosome 17q23.1-q23.2 deletion
|
| 298 |
+
Chromosome 17q23.1-q23.2 duplication
|
| 299 |
+
Chromosome 18p deletion
|
| 300 |
+
Chromosome 18q deletion
|
| 301 |
+
Chromosome 19p13.13 deletion
|
| 302 |
+
Chromosome 19p13.13 duplication
|
| 303 |
+
Chromosome 19q13.11 deletion
|
| 304 |
+
Chromosome 1p35 deletion
|
| 305 |
+
Chromosome 1p36 deletion
|
| 306 |
+
Chromosome 1p36.33 duplication
|
| 307 |
+
Chromosome 1q21.1 deletion
|
| 308 |
+
Chromosome 1q21.1 duplication
|
| 309 |
+
Chromosome 1q41-q42 deletion
|
| 310 |
+
Chromosome 22q11.2 deletion
|
| 311 |
+
Chromosome 22q11.2 microduplication
|
| 312 |
+
Chromosome 22q13 duplication
|
| 313 |
+
Chromosome 2p12-p11.2 deletion
|
| 314 |
+
Chromosome 2p16.1-p15 deletion
|
| 315 |
+
Chromosome 2q31.1 duplication
|
| 316 |
+
Chromosome 2q31.2 deletion
|
| 317 |
+
Chromosome 2q37 deletion
|
| 318 |
+
Chromosome 3q13.31 deletion
|
| 319 |
+
Chromosome 3q29 microdeletion
|
| 320 |
+
Chromosome 3q29 microduplication
|
| 321 |
+
Chromosome 4q21 deletion
|
| 322 |
+
Chromosome 4q32.1-q32.2 triplication
|
| 323 |
+
Chromosome 5p13 duplication
|
| 324 |
+
Chromosome 5q12 deletion
|
| 325 |
+
Chromosome 5q14.3 deletion
|
| 326 |
+
Chromosome 6pter-p24 deletion
|
| 327 |
+
Chromosome 6q11-q14 deletion
|
| 328 |
+
Chromosome 6q25-q25 deletion
|
| 329 |
+
Chromosome 7q11.23 deletion
|
| 330 |
+
Chromosome 7q11.23 duplication
|
| 331 |
+
Chromosome 8p11 myeloproliferative
|
| 332 |
+
Chromosome 8q21.11 deletion
|
| 333 |
+
Chromosome 9p deletion
|
| 334 |
+
Chromosome Xp11.23-p11.22 duplication
|
| 335 |
+
Chromosome Xp11.3 deletion
|
| 336 |
+
Chromosome Xp21 deletion
|
| 337 |
+
Chromosome Xq13 duplication
|
| 338 |
+
Chromosome Xq26.3 duplication
|
| 339 |
+
Chromosome Xq27.3-q28 duplication
|
| 340 |
+
Chromosome Xq28 duplication
|
| 341 |
+
Chudley-McCullough
|
| 342 |
+
Chung-Jansen
|
| 343 |
+
Cleft
|
| 344 |
+
Cleft lip/palate-ectodermal dysplasia
|
| 345 |
+
Cockayne
|
| 346 |
+
Cocoon
|
| 347 |
+
Coffin-Lowry
|
| 348 |
+
Coffin-Siris
|
| 349 |
+
Cohen
|
| 350 |
+
Cohen-Gibson
|
| 351 |
+
Cold-induced
|
| 352 |
+
Cold-induced sweating
|
| 353 |
+
Cole-Carpenter
|
| 354 |
+
Combined
|
| 355 |
+
Combined osteogenesis imperfecta and Ehlers-Danlos
|
| 356 |
+
Cone-rod
|
| 357 |
+
Cone-rod synaptic disorder
|
| 358 |
+
Congenital
|
| 359 |
+
Congenital anomalies of kidney and urinary tract
|
| 360 |
+
Congenital heart defects and skeletal malformations
|
| 361 |
+
Congenital short bowel
|
| 362 |
+
Conotruncal
|
| 363 |
+
Conotruncal anomaly face
|
| 364 |
+
Contractures
|
| 365 |
+
Contractures, pterygia, and spondylocarpostarsal fusion
|
| 366 |
+
Contractures, pterygia, and spondylocarpotarsal fusion
|
| 367 |
+
Cornelia
|
| 368 |
+
Cornelia de Lange
|
| 369 |
+
Costello
|
| 370 |
+
Cousin
|
| 371 |
+
Cowchock
|
| 372 |
+
Cowden
|
| 373 |
+
Craniofacial
|
| 374 |
+
Craniofacial anomalies and anterior segment dysgenesis
|
| 375 |
+
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development
|
| 376 |
+
Craniofacial-deafness-hand
|
| 377 |
+
Craniofacioskeletal
|
| 378 |
+
Crigler-Najjar
|
| 379 |
+
Crohn
|
| 380 |
+
Crouzon
|
| 381 |
+
Culler-Jones
|
| 382 |
+
Currarino
|
| 383 |
+
Curry-Jones
|
| 384 |
+
Cushing
|
| 385 |
+
Cutaneous
|
| 386 |
+
Cutaneous telangiectasia and cancer
|
| 387 |
+
D3
|
| 388 |
+
DEEAH
|
| 389 |
+
DEGCAGS
|
| 390 |
+
DOORS
|
| 391 |
+
Dalton
|
| 392 |
+
Dandy-Walker
|
| 393 |
+
De
|
| 394 |
+
De Sanctis-Cacchione
|
| 395 |
+
Delayed
|
| 396 |
+
Delayed sleep phase
|
| 397 |
+
Delpire-McNeill
|
| 398 |
+
Dentici-Novelli
|
| 399 |
+
Dentici-Novelli neurodevelopmental
|
| 400 |
+
Denys-Drash
|
| 401 |
+
Desanto-Shinawi
|
| 402 |
+
DiGeorge
|
| 403 |
+
Dias-Logan
|
| 404 |
+
Diencephalic-mesencephalic
|
| 405 |
+
Diencephalic-mesencephalic junction dysplasia
|
| 406 |
+
Diets-Jongmans
|
| 407 |
+
Diffuse
|
| 408 |
+
Diffuse gastric and lobular breast cancer
|
| 409 |
+
Donnai-Barrow
|
| 410 |
+
Donohue
|
| 411 |
+
Down
|
| 412 |
+
Dravet
|
| 413 |
+
Duane
|
| 414 |
+
Duane retraction
|
| 415 |
+
Duane-radial
|
| 416 |
+
Duane-radial ray
|
| 417 |
+
Dubin-Johnson
|
| 418 |
+
Dursun
|
| 419 |
+
Dworschak-Punetha
|
| 420 |
+
Dworschak-Punetha neurodevelopmental
|
| 421 |
+
E
|
| 422 |
+
EDICT
|
| 423 |
+
EEC
|
| 424 |
+
EEG
|
| 425 |
+
EMG
|
| 426 |
+
ENDOVE
|
| 427 |
+
ERG
|
| 428 |
+
Ebstein
|
| 429 |
+
Ectodermal
|
| 430 |
+
Ectodermal dysplasia-syndactyly
|
| 431 |
+
Ectodermal dysplasia/short stature
|
| 432 |
+
Ectodermal dysplasia/skin fragility
|
| 433 |
+
Ectrodactyly
|
| 434 |
+
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate
|
| 435 |
+
Ehlers-Danlos
|
| 436 |
+
Eiken
|
| 437 |
+
Ellis-van
|
| 438 |
+
Ellis-van Creveld
|
| 439 |
+
Elsahy-Waters
|
| 440 |
+
Emanuel
|
| 441 |
+
Emberger
|
| 442 |
+
Enhanced
|
| 443 |
+
Enhanced S-cone
|
| 444 |
+
Epidermolysis
|
| 445 |
+
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic
|
| 446 |
+
Episodic
|
| 447 |
+
Episodic ataxia/myokymia
|
| 448 |
+
Episodic pain
|
| 449 |
+
Escobar
|
| 450 |
+
Even-plus
|
| 451 |
+
Exfoliation
|
| 452 |
+
FAV
|
| 453 |
+
FG
|
| 454 |
+
FILS
|
| 455 |
+
FINCA
|
| 456 |
+
Facial
|
| 457 |
+
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth
|
| 458 |
+
Fallot
|
| 459 |
+
Familial
|
| 460 |
+
Familial apolipoprotein gene cluster deletion
|
| 461 |
+
Familial cold autoinflammatory
|
| 462 |
+
Familial cold inflammatory
|
| 463 |
+
Fanconi
|
| 464 |
+
Fanconi renotubular
|
| 465 |
+
Fanconi-Bickel
|
| 466 |
+
Faundes-Banka
|
| 467 |
+
Feingold
|
| 468 |
+
Ferguson-Bonni
|
| 469 |
+
Ferguson-Bonni neurodevelopmental
|
| 470 |
+
Filippi
|
| 471 |
+
Floating-Harbor
|
| 472 |
+
Focal
|
| 473 |
+
Focal segmental glomerulosclerosis and neurodevelopmental
|
| 474 |
+
Fontaine
|
| 475 |
+
Fontaine progeroid
|
| 476 |
+
Forsythe-Wakeling
|
| 477 |
+
Fragile
|
| 478 |
+
Fragile X
|
| 479 |
+
Fragile X tremor/ataxia
|
| 480 |
+
Frank-ter
|
| 481 |
+
Frank-ter Haar
|
| 482 |
+
Fraser
|
| 483 |
+
Frasier
|
| 484 |
+
Frias
|
| 485 |
+
Fuhrmann
|
| 486 |
+
G
|
| 487 |
+
GAND
|
| 488 |
+
GAPO
|
| 489 |
+
GH
|
| 490 |
+
GLOW
|
| 491 |
+
GLUT1
|
| 492 |
+
GLUT1 deficiency
|
| 493 |
+
GRACILE
|
| 494 |
+
Gabriele-de
|
| 495 |
+
Gabriele-de Vries
|
| 496 |
+
Galloway-Mowat
|
| 497 |
+
Gardner
|
| 498 |
+
Gastrointestinal
|
| 499 |
+
Gastrointestinal defects and immunodeficiency
|
| 500 |
+
Gastrointestinal stromal tumor/GIST-plus
|
| 501 |
+
Genitopatellar
|
| 502 |
+
Genitourinary
|
| 503 |
+
Genitourinary and/or/brain malformation
|
| 504 |
+
Ghosal
|
| 505 |
+
Ghosal hematodiaphyseal
|
| 506 |
+
Gilbert
|
| 507 |
+
Gilles
|
| 508 |
+
Gilles de la Tourette
|
| 509 |
+
Gillespie
|
| 510 |
+
Gillessen-Kaesbach-Nishimura
|
| 511 |
+
Gitelman
|
| 512 |
+
Glass
|
| 513 |
+
Goeminne
|
| 514 |
+
Goeminne TKCR
|
| 515 |
+
Goldberg-Shprintzen
|
| 516 |
+
Goldberg-Shprintzen megacolon
|
| 517 |
+
Grange
|
| 518 |
+
Gray
|
| 519 |
+
Gray platelet
|
| 520 |
+
Greig
|
| 521 |
+
Greig cephalopolysyndactyly
|
| 522 |
+
Griscelli
|
| 523 |
+
Groupe
|
| 524 |
+
Gustavson
|
| 525 |
+
Guttmacher
|
| 526 |
+
HARP
|
| 527 |
+
HELIX
|
| 528 |
+
HELLP
|
| 529 |
+
Haim-Munk
|
| 530 |
+
Hajdu-Cheney
|
| 531 |
+
Halperin-Birk
|
| 532 |
+
Hamamy
|
| 533 |
+
Hand-foot-uterus
|
| 534 |
+
Hao-Fountain
|
| 535 |
+
Hardikar
|
| 536 |
+
Harel-Yoon
|
| 537 |
+
Hartsfield
|
| 538 |
+
Hay-Wells
|
| 539 |
+
Heart
|
| 540 |
+
Heart and brain malformation
|
| 541 |
+
Heart-hand
|
| 542 |
+
Heimler
|
| 543 |
+
Helsmoortel-van
|
| 544 |
+
Helsmoortel-van der Aa
|
| 545 |
+
Hemolytic
|
| 546 |
+
Hemolytic uremic
|
| 547 |
+
Hengel-Maroofian-Schols
|
| 548 |
+
Hennekam
|
| 549 |
+
Hennekam lymphangiectasia-lymphedema
|
| 550 |
+
Hermansky-Pudlak
|
| 551 |
+
Heyn-Sproul-Jackson
|
| 552 |
+
Hiatt-Neu-Cooper
|
| 553 |
+
Hiatt-Neu-Cooper neurodevelopmental
|
| 554 |
+
Hirschsprung
|
| 555 |
+
Histiocytosis-lymphadenopathy
|
| 556 |
+
Histiocytosis-lymphadenopathy plus
|
| 557 |
+
Hodgkin
|
| 558 |
+
Holt-Oram
|
| 559 |
+
Huriez
|
| 560 |
+
Hyaline
|
| 561 |
+
Hyaline fibromatosis
|
| 562 |
+
Hydrolethalus
|
| 563 |
+
Hyper-IgD
|
| 564 |
+
Hyper-IgE
|
| 565 |
+
Hyper-IgE recurrent infection
|
| 566 |
+
Hypereosinophilic
|
| 567 |
+
Hyperferritinemia-cataract
|
| 568 |
+
Hyperimmunoglobulin
|
| 569 |
+
Hyperimmunoglobulin G1
|
| 570 |
+
Hyperinsulinism-hyperammonemia
|
| 571 |
+
Hyperornithinemia-hyperammonemia-homocitrullinemia
|
| 572 |
+
Hyperparathyroidism-jaw
|
| 573 |
+
Hyperparathyroidism-jaw tumor
|
| 574 |
+
Hyperphosphatasia
|
| 575 |
+
Hyperphosphatasia with impaired intellectual development
|
| 576 |
+
Hypersensitivity
|
| 577 |
+
Hypertension
|
| 578 |
+
Hypertension and brachydactyly
|
| 579 |
+
Hypertrichotic
|
| 580 |
+
Hypertrichotic osteochondrodysplasia (Cantu
|
| 581 |
+
Hypocalcemia
|
| 582 |
+
Hypocalcemia, autosomal dominant, with Bartter
|
| 583 |
+
Hypogonadotropic
|
| 584 |
+
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann
|
| 585 |
+
Hypoparathyroidism-retardation-dysmorphism
|
| 586 |
+
Hypoplastic
|
| 587 |
+
Hypoplastic left heart
|
| 588 |
+
Hypotonia
|
| 589 |
+
Hypotonia, ataxia, and delayed development
|
| 590 |
+
Hypotonia, ataxia, developmental delay, and tooth enamel defect
|
| 591 |
+
Hypotonia-cystinuria
|
| 592 |
+
Hypotrichosis-lymphedema-telangiectasia
|
| 593 |
+
Hypotrichosis-lymphedema-telangiectasia-renal
|
| 594 |
+
Hypotrichosis-lymphedema-telangiectasia-renal defect
|
| 595 |
+
Hz
|
| 596 |
+
I
|
| 597 |
+
IFAP
|
| 598 |
+
II
|
| 599 |
+
III
|
| 600 |
+
IMAGE
|
| 601 |
+
IMAGE-I
|
| 602 |
+
IRM
|
| 603 |
+
IV
|
| 604 |
+
IVIC
|
| 605 |
+
IX
|
| 606 |
+
Ichthyosis
|
| 607 |
+
Ichthyosis prematurity
|
| 608 |
+
Ichthyosis, follicular, with atrichia and photophobia
|
| 609 |
+
IgE
|
| 610 |
+
IgG
|
| 611 |
+
IgM
|
| 612 |
+
Imagawa-Matsumoto
|
| 613 |
+
Imerslund-Grasbeck
|
| 614 |
+
Immune
|
| 615 |
+
Immune dysregulation and systemic hyperinflammation
|
| 616 |
+
Immunodeficiency-centromeric
|
| 617 |
+
Immunodeficiency-centromeric instability-facial anomalies
|
| 618 |
+
Infantile
|
| 619 |
+
Infantile liver failure
|
| 620 |
+
Intellectual
|
| 621 |
+
Intellectual disability and myopathy
|
| 622 |
+
Intellectual disability-hypotonic facies
|
| 623 |
+
Intestinal
|
| 624 |
+
Intestinal dysmotility
|
| 625 |
+
Ischiocoxopodopatellar
|
| 626 |
+
Jaberi-Elahi
|
| 627 |
+
Jackson-Weiss
|
| 628 |
+
Jacobsen
|
| 629 |
+
Jalili
|
| 630 |
+
Jansen
|
| 631 |
+
Jansen de Vries
|
| 632 |
+
Jawad
|
| 633 |
+
Jervell
|
| 634 |
+
Jervell and Lange-Nielsen
|
| 635 |
+
Johanson-Blizzard
|
| 636 |
+
Joubert
|
| 637 |
+
Juberg-Hayward
|
| 638 |
+
Juvenile
|
| 639 |
+
Juvenile polyposis/hereditary hemorrhagic telangiectasia
|
| 640 |
+
KBG
|
| 641 |
+
KINSSHIP
|
| 642 |
+
Kabuki
|
| 643 |
+
Kagami-Ogata
|
| 644 |
+
Kahrizi
|
| 645 |
+
Kaufman
|
| 646 |
+
Kaufman oculocerebrofacial
|
| 647 |
+
Kaya-Barakat-Masson
|
| 648 |
+
Keipert
|
| 649 |
+
Kenny-Caffey
|
| 650 |
+
Keppen-Lubinsky
|
| 651 |
+
Keratitis-ichthyosis-deafness
|
| 652 |
+
Keratoderma-ichthyosis-deafness
|
| 653 |
+
Keutel
|
| 654 |
+
Khan-Khan-Katsanis
|
| 655 |
+
Kilquist
|
| 656 |
+
Kindler
|
| 657 |
+
King-Denborough
|
| 658 |
+
Kleefstra
|
| 659 |
+
Klippel-Feil
|
| 660 |
+
Klippel-Trenaunay-Weber
|
| 661 |
+
Knobloch
|
| 662 |
+
Kohlschutter-Tonz
|
| 663 |
+
Kondoh
|
| 664 |
+
Koolen-De
|
| 665 |
+
Koolen-De Vries
|
| 666 |
+
Kosaki
|
| 667 |
+
Kosaki overgrowth
|
| 668 |
+
Kowarski
|
| 669 |
+
Kufor-Rakeb
|
| 670 |
+
Kury-Isidor
|
| 671 |
+
LADD
|
| 672 |
+
LCR
|
| 673 |
+
LEOPARD
|
| 674 |
+
LIG4
|
| 675 |
+
Lamb-Shaffer
|
| 676 |
+
Langerhans
|
| 677 |
+
Larsen
|
| 678 |
+
Larsen-like
|
| 679 |
+
Lateral
|
| 680 |
+
Lateral meningocele
|
| 681 |
+
Laurence-Moon
|
| 682 |
+
Laurin-Sandrow
|
| 683 |
+
Leber
|
| 684 |
+
Legius
|
| 685 |
+
Leri
|
| 686 |
+
Leri pleonosteosis chromosome duplication
|
| 687 |
+
Lesch-Nyhan
|
| 688 |
+
Lessel-Kreienkamp
|
| 689 |
+
Lessel-Kubisch
|
| 690 |
+
Lethal
|
| 691 |
+
Lethal congenital contractural
|
| 692 |
+
Lethal congenital contracture
|
| 693 |
+
Leukemia
|
| 694 |
+
Leukemia, megakaryoblastic, with or without Down
|
| 695 |
+
Leukemia, transient, of Down
|
| 696 |
+
Leukoencephalopathy
|
| 697 |
+
Leukoencephalopathy, developmental delay, and episodic neurologic regression
|
| 698 |
+
Leukoencephalopathy, motor delay, spasticity, and dysarthria
|
| 699 |
+
Levy-Shanske
|
| 700 |
+
Li-Campeau
|
| 701 |
+
Li-Fraumeni
|
| 702 |
+
Li-Ghorgani-Weisz-Hubshman
|
| 703 |
+
Liang-Wang
|
| 704 |
+
Liberfarb
|
| 705 |
+
Lichtenstein-Knorr
|
| 706 |
+
Liddle
|
| 707 |
+
Liebenberg
|
| 708 |
+
Limb-mammary
|
| 709 |
+
Loeys-Dietz
|
| 710 |
+
Long
|
| 711 |
+
Long QT
|
| 712 |
+
Lopes-Maciel-Rodan
|
| 713 |
+
Lowe
|
| 714 |
+
Lowry-Wood
|
| 715 |
+
Lujan-Fryns
|
| 716 |
+
Lung
|
| 717 |
+
Lung disease, immunodeficiency, and chromosome breakage
|
| 718 |
+
Luo-Schoch-Yamamoto
|
| 719 |
+
Luscan-Lumish
|
| 720 |
+
Lymphedema-distichiasis
|
| 721 |
+
Lymphoproliferative
|
| 722 |
+
Lynch
|
| 723 |
+
MASA
|
| 724 |
+
MASS
|
| 725 |
+
MEDNIK
|
| 726 |
+
MEHMO
|
| 727 |
+
MEND
|
| 728 |
+
MIRAGE
|
| 729 |
+
Macrocephaly/autism
|
| 730 |
+
Macrocephaly/megalencephaly
|
| 731 |
+
Majeed
|
| 732 |
+
Malan
|
| 733 |
+
Malouf
|
| 734 |
+
Mammary-digital-nail
|
| 735 |
+
Mandibular
|
| 736 |
+
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy
|
| 737 |
+
Mandibuloacral
|
| 738 |
+
Mandibuloacral dysplasia progeroid
|
| 739 |
+
Manitoba
|
| 740 |
+
Manitoba oculotrichoanal
|
| 741 |
+
Marbach-Rustad
|
| 742 |
+
Marbach-Rustad progeroid
|
| 743 |
+
Marbach-Schaaf
|
| 744 |
+
Marbach-Schaaf neurodevelopmental
|
| 745 |
+
Marden-Walker
|
| 746 |
+
Marfan
|
| 747 |
+
Marfan lipodystrophy
|
| 748 |
+
Marinesco-Sjogren
|
| 749 |
+
Marshall
|
| 750 |
+
Marshall-Smith
|
| 751 |
+
Marsili
|
| 752 |
+
Martin-Probst
|
| 753 |
+
Martsolf
|
| 754 |
+
Mast
|
| 755 |
+
McCune-Albright
|
| 756 |
+
McKusick-Kaufman
|
| 757 |
+
McLeod
|
| 758 |
+
Meacham
|
| 759 |
+
Meckel
|
| 760 |
+
Medulloblastoma
|
| 761 |
+
Medulloblastoma predisposition
|
| 762 |
+
Meester-Loeys
|
| 763 |
+
Mega-corpus-callosum
|
| 764 |
+
Megacystis-microcolon-intestinal
|
| 765 |
+
Megacystis-microcolon-intestinal hypoperistalsis
|
| 766 |
+
Megalencephaly-capillary
|
| 767 |
+
Megalencephaly-capillary malformation-polymicrogyria
|
| 768 |
+
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
|
| 769 |
+
Meier-Gorlin
|
| 770 |
+
Melanocytic
|
| 771 |
+
Melanocytic nevus
|
| 772 |
+
Melanoma
|
| 773 |
+
Melanoma and neural system tumor
|
| 774 |
+
Melanoma-pancreatic
|
| 775 |
+
Melanoma-pancreatic cancer
|
| 776 |
+
Melkersson-Rosenthal
|
| 777 |
+
Melnick-Needles
|
| 778 |
+
Menke-Hennekam
|
| 779 |
+
Mesomelia-synostoses
|
| 780 |
+
Metabolic
|
| 781 |
+
Microcephaly
|
| 782 |
+
Microcephaly, developmental delay, and brittle hair
|
| 783 |
+
Microcephaly, epilepsy, and diabetes
|
| 784 |
+
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia
|
| 785 |
+
Microcephaly-capillary
|
| 786 |
+
Microcephaly-capillary malformation
|
| 787 |
+
Microcephaly-micromelia
|
| 788 |
+
Microphthalmia/coloboma
|
| 789 |
+
Microphthalmia/coloboma and skeletal dysplasia
|
| 790 |
+
Miller
|
| 791 |
+
Miller-Dieker
|
| 792 |
+
Miller-Dieker lissencephaly
|
| 793 |
+
Mismatch
|
| 794 |
+
Mismatch repair cancer
|
| 795 |
+
Mitchell
|
| 796 |
+
Mitchell-Riley
|
| 797 |
+
Mitochondrial
|
| 798 |
+
Mitochondrial DNA depletion
|
| 799 |
+
Mitochondrial recessive ataxia
|
| 800 |
+
Moebius
|
| 801 |
+
Mohr-Tranebjaerg
|
| 802 |
+
Monosomy
|
| 803 |
+
Monosomy 7 myelodysplasia and leukemia
|
| 804 |
+
Morgagni-Stewart-Morel
|
| 805 |
+
Mosaic
|
| 806 |
+
Mosaic variegated aneuploidy
|
| 807 |
+
Mowat-Wilson
|
| 808 |
+
Muckle-Wells
|
| 809 |
+
Mucopolysaccharidosis-plus
|
| 810 |
+
Muenke
|
| 811 |
+
Muir-Torre
|
| 812 |
+
Mulchandani-Bhoj-Conlin
|
| 813 |
+
Mullegama-Klein-Martinez
|
| 814 |
+
Multicentric
|
| 815 |
+
Multicentric carpotarsal osteolysis
|
| 816 |
+
Multiple
|
| 817 |
+
Multiple congenital anomalies-hypotonia-seizures
|
| 818 |
+
Multiple congenital anomalies-neurodevelopmental
|
| 819 |
+
Multiple mitochondrial dysfunctions
|
| 820 |
+
Multiple pterygium
|
| 821 |
+
Multiple synostoses
|
| 822 |
+
Multisystemic
|
| 823 |
+
Multisystemic smooth muscle dysfunction
|
| 824 |
+
Mungan
|
| 825 |
+
Muscular
|
| 826 |
+
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency
|
| 827 |
+
Myasthenic
|
| 828 |
+
Myelodysplasia
|
| 829 |
+
Myelodysplastic
|
| 830 |
+
Myhre
|
| 831 |
+
Myoectodermal
|
| 832 |
+
Myoectodermal gonadal dysgenesis
|
| 833 |
+
Ménétrier
|
| 834 |
+
NESCAV
|
| 835 |
+
NOR
|
| 836 |
+
NOR polyagglutination
|
| 837 |
+
Nabais
|
| 838 |
+
Nabais Sa-de Vries
|
| 839 |
+
Nablus
|
| 840 |
+
Nablus mask-like facial
|
| 841 |
+
Naegeli-Franceschetti-Jadassohn
|
| 842 |
+
Nail-patella
|
| 843 |
+
Nance-Horan
|
| 844 |
+
Neisseria
|
| 845 |
+
Nephrogenic
|
| 846 |
+
Nephrotic
|
| 847 |
+
Nestor-Guillermo
|
| 848 |
+
Nestor-Guillermo progeria
|
| 849 |
+
Netherton
|
| 850 |
+
Neu-Laxova
|
| 851 |
+
Neurocardiofaciodigital
|
| 852 |
+
Neurodevelopmental
|
| 853 |
+
Neurodevelopmental, jaw, eye, and digital
|
| 854 |
+
Neurodevelopmental-craniofacial
|
| 855 |
+
Neurofacioskeletal
|
| 856 |
+
Neurofibromatosis-Noonan
|
| 857 |
+
Neuroocular
|
| 858 |
+
Neurooculocardiogenitourinary
|
| 859 |
+
Nicolaides-Baraitser
|
| 860 |
+
Nijmegen
|
| 861 |
+
Nijmegen breakage
|
| 862 |
+
Nikolsky
|
| 863 |
+
Nivelon-Nivelon-Mabille
|
| 864 |
+
Nizon-Isidor
|
| 865 |
+
Noonan
|
| 866 |
+
O'Donnell-Luria-Rodan
|
| 867 |
+
Occipital
|
| 868 |
+
Occipital horn
|
| 869 |
+
Oculoauricular
|
| 870 |
+
Oculoectodermal
|
| 871 |
+
Oculogastrointestinal
|
| 872 |
+
Oculogastrointestinal neurodevelopmental
|
| 873 |
+
Oculoskeletodental
|
| 874 |
+
Ogden
|
| 875 |
+
Ohdo
|
| 876 |
+
Okur-Chung
|
| 877 |
+
Okur-Chung neurodevelopmental
|
| 878 |
+
Oligodontia-colorectal
|
| 879 |
+
Oligodontia-colorectal cancer
|
| 880 |
+
Oliver-McFarlane
|
| 881 |
+
Olmsted
|
| 882 |
+
Omenn
|
| 883 |
+
Onychodystrophy
|
| 884 |
+
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures
|
| 885 |
+
Opitz
|
| 886 |
+
Opitz GBBB
|
| 887 |
+
Opitz-Kaveggia
|
| 888 |
+
Optic
|
| 889 |
+
Optic atrophy plus
|
| 890 |
+
Orofaciodigital
|
| 891 |
+
Osteootohepatoenteric
|
| 892 |
+
Osteoporosis-pseudoglioma
|
| 893 |
+
Ota
|
| 894 |
+
Otodental
|
| 895 |
+
Otodental dysplasia chromosome deletion
|
| 896 |
+
Otofaciocervical
|
| 897 |
+
Otopalatodigital
|
| 898 |
+
Ovarian
|
| 899 |
+
Ovarian hyperstimulation
|
| 900 |
+
PCWH
|
| 901 |
+
PEA
|
| 902 |
+
PEHO
|
| 903 |
+
PERCHING
|
| 904 |
+
PEV
|
| 905 |
+
Paganini-Miozzo
|
| 906 |
+
Pallister-Hall
|
| 907 |
+
Pallister-Hall-like
|
| 908 |
+
Pallister-Killian
|
| 909 |
+
Panic
|
| 910 |
+
Panic disorder
|
| 911 |
+
Papillon-Lefevre
|
| 912 |
+
Papillorenal
|
| 913 |
+
Parenti-Mignot
|
| 914 |
+
Parenti-Mignot neurodevelopmental
|
| 915 |
+
Partington
|
| 916 |
+
Pectus
|
| 917 |
+
Peeling
|
| 918 |
+
Peeling skin
|
| 919 |
+
Pelger-Huët
|
| 920 |
+
Pendred
|
| 921 |
+
Periodic
|
| 922 |
+
Periodic fever, immunodeficiency, and thrombocytopenia
|
| 923 |
+
Perlman
|
| 924 |
+
Perrault
|
| 925 |
+
Perry
|
| 926 |
+
Persistent
|
| 927 |
+
Persistent Mullerian duct
|
| 928 |
+
Peters-plus
|
| 929 |
+
Pettigrew
|
| 930 |
+
Peutz-Jeghers
|
| 931 |
+
Pfeiffer
|
| 932 |
+
Phelan-McDermid
|
| 933 |
+
Pick
|
| 934 |
+
Pierpont
|
| 935 |
+
Pierre
|
| 936 |
+
Pierre Robin
|
| 937 |
+
Pierson
|
| 938 |
+
Pigmentosum
|
| 939 |
+
Pilarowski-Bjornsson
|
| 940 |
+
Pitt-Hopkins
|
| 941 |
+
Pitt-Hopkins like
|
| 942 |
+
Pitt-Hopkins-like
|
| 943 |
+
Poirier-Bienvenu
|
| 944 |
+
Poirier-Bienvenu neurodevelopmental
|
| 945 |
+
Polycystic
|
| 946 |
+
Polycystic ovary
|
| 947 |
+
Polyendocrine-polyneuropathy
|
| 948 |
+
Polyposis
|
| 949 |
+
Pontocerebellar
|
| 950 |
+
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency
|
| 951 |
+
Popliteal
|
| 952 |
+
Popliteal pterygium
|
| 953 |
+
Poretti-Boltshauser
|
| 954 |
+
Potocki-Lupski
|
| 955 |
+
Potocki-Shaffer
|
| 956 |
+
Prader-Willi
|
| 957 |
+
Premature
|
| 958 |
+
Premature aging
|
| 959 |
+
Prieto
|
| 960 |
+
Primordial
|
| 961 |
+
Primordial dwarfism-immunodeficiency-lipodystrophy
|
| 962 |
+
Primrose
|
| 963 |
+
Proliferative
|
| 964 |
+
Proliferative vasculopathy and hydranencephaly-hydrocephaly
|
| 965 |
+
Proteasome-associated
|
| 966 |
+
Proteasome-associated autoinflammatory
|
| 967 |
+
Proteus
|
| 968 |
+
Proud
|
| 969 |
+
Prune
|
| 970 |
+
Prune belly
|
| 971 |
+
Pseudo-TORCH
|
| 972 |
+
Quincke
|
| 973 |
+
RAPADILINO
|
| 974 |
+
RAS-associated
|
| 975 |
+
RAS-associated autoimmune lymphoproliferative
|
| 976 |
+
RHYNS
|
| 977 |
+
RIDDLE
|
| 978 |
+
ROSAH
|
| 979 |
+
Rabin-Pappas
|
| 980 |
+
Rabson-Mendenhall
|
| 981 |
+
Radiation
|
| 982 |
+
Radiation sensitivity/chromosome instability
|
| 983 |
+
Radio-Tartaglia
|
| 984 |
+
Rafiq
|
| 985 |
+
Rahman
|
| 986 |
+
Raine
|
| 987 |
+
Rapp-Hodgkin
|
| 988 |
+
Rauch-Steindl
|
| 989 |
+
Raynaud-Claes
|
| 990 |
+
Renal
|
| 991 |
+
Renal cysts and diabetes
|
| 992 |
+
Renpenning
|
| 993 |
+
Restless
|
| 994 |
+
Restless legs
|
| 995 |
+
Retinal
|
| 996 |
+
Retinal disease in Usher
|
| 997 |
+
Retinal dystrophy, iris coloboma, and comedogenic acne
|
| 998 |
+
Retinal dystrophy, juvenile cataracts, and short stature
|
| 999 |
+
Rett
|
| 1000 |
+
Revesz
|
| 1001 |
+
Reynolds
|
| 1002 |
+
Rhabdoid
|
| 1003 |
+
Rhabdoid tumor predisposition
|
| 1004 |
+
Rieger
|
| 1005 |
+
Rigidity
|
| 1006 |
+
Rigidity and multifocal seizure
|
| 1007 |
+
Ring
|
| 1008 |
+
Ring chromosome 14
|
| 1009 |
+
Ritscher-Schinzel
|
| 1010 |
+
Roberts-SC
|
| 1011 |
+
Roberts-SC phocomelia
|
| 1012 |
+
Robinow
|
| 1013 |
+
Robinow-Sorauf
|
| 1014 |
+
Roifman
|
| 1015 |
+
Roifman-Chitayat
|
| 1016 |
+
Rothmund-Thomson
|
| 1017 |
+
Roussy-Levy
|
| 1018 |
+
Rubinstein-Taybi
|
| 1019 |
+
Ruijs-Aalfs
|
| 1020 |
+
S-sulfocystéine
|
| 1021 |
+
SAOS
|
| 1022 |
+
SBBYSS
|
| 1023 |
+
SERKAL
|
| 1024 |
+
SESAME
|
| 1025 |
+
SHORT
|
| 1026 |
+
SIMHA
|
| 1027 |
+
SLA
|
| 1028 |
+
SNC
|
| 1029 |
+
SNP
|
| 1030 |
+
STAR
|
| 1031 |
+
Saethre-Chotzen
|
| 1032 |
+
Salt
|
| 1033 |
+
Salt and pepper developmental regression
|
| 1034 |
+
Sandestig-Stefanova
|
| 1035 |
+
Saul-Wilson
|
| 1036 |
+
Scalp-ear-nipple
|
| 1037 |
+
Scanner
|
| 1038 |
+
Scapuloperoneal
|
| 1039 |
+
Schaaf-Yang
|
| 1040 |
+
Schimmelpenning-Feuerstein-Mims
|
| 1041 |
+
Schinzel-Giedion
|
| 1042 |
+
Schinzel-Giedion midface retraction
|
| 1043 |
+
Schopf-Schulz-Passarge
|
| 1044 |
+
Schuurs-Hoeijmakers
|
| 1045 |
+
Schwartz-Jampel
|
| 1046 |
+
Scott
|
| 1047 |
+
Sd(a)
|
| 1048 |
+
Sd(a) polyagglutination
|
| 1049 |
+
Seckel
|
| 1050 |
+
Segawa
|
| 1051 |
+
Seizures
|
| 1052 |
+
Seizures, cortical blindness, microcephaly
|
| 1053 |
+
Seizures, scoliosis, and macrocephaly
|
| 1054 |
+
Sengers
|
| 1055 |
+
Senior-Loken
|
| 1056 |
+
Sessile
|
| 1057 |
+
Sessile serrated polyposis cancer
|
| 1058 |
+
Sezary
|
| 1059 |
+
Shaheen
|
| 1060 |
+
Shashi-Pena
|
| 1061 |
+
Short
|
| 1062 |
+
Short QT
|
| 1063 |
+
Short stature-micrognathia
|
| 1064 |
+
Shprintzen-Goldberg
|
| 1065 |
+
Shukla-Vernon
|
| 1066 |
+
Shwachman-Diamond
|
| 1067 |
+
Sick
|
| 1068 |
+
Sick sinus
|
| 1069 |
+
Siddiqi
|
| 1070 |
+
Sifrim-Hitz-Weiss
|
| 1071 |
+
Silver
|
| 1072 |
+
Silver spastic paraplegia
|
| 1073 |
+
Silver-Russell
|
| 1074 |
+
Simpson-Golabi-Behmel
|
| 1075 |
+
Singleton-Merten
|
| 1076 |
+
Sjogren-Larsson
|
| 1077 |
+
Skin
|
| 1078 |
+
Skin fragility-woolly hair
|
| 1079 |
+
Skraban-Deardorff
|
| 1080 |
+
Smith-Kingsmore
|
| 1081 |
+
Smith-Lemli-Opitz
|
| 1082 |
+
Smith-Magenis
|
| 1083 |
+
Sneddon
|
| 1084 |
+
Snijders
|
| 1085 |
+
Snijders Blok-Campeau
|
| 1086 |
+
Snijders Blok-Fisher
|
| 1087 |
+
Sotos
|
| 1088 |
+
Split-hand/foot
|
| 1089 |
+
Split-hand/foot malformation 3, gene duplication
|
| 1090 |
+
Spondylocarpotarsal
|
| 1091 |
+
Spondylocarpotarsal synostosis
|
| 1092 |
+
Spondyloocular
|
| 1093 |
+
Sprengel
|
| 1094 |
+
Stankiewicz-Isidor
|
| 1095 |
+
Steel
|
| 1096 |
+
Stevens-Johnson
|
| 1097 |
+
Stickler
|
| 1098 |
+
Stiff
|
| 1099 |
+
Stiff skin
|
| 1100 |
+
Stormorken
|
| 1101 |
+
Stromme
|
| 1102 |
+
Structural
|
| 1103 |
+
Structural heart defects and renal anomalies
|
| 1104 |
+
Sturge-Weber
|
| 1105 |
+
Stuve-Wiedemann
|
| 1106 |
+
Sudden
|
| 1107 |
+
Sudden infant death
|
| 1108 |
+
Sudden infant death with dysgenesis of the testes
|
| 1109 |
+
Suleiman-El-Hattab
|
| 1110 |
+
Supernumerary
|
| 1111 |
+
Supernumerary der(22)t(8-22)
|
| 1112 |
+
Sweeney-Cox
|
| 1113 |
+
TARP
|
| 1114 |
+
TSH
|
| 1115 |
+
Takenouchi-Kosaki
|
| 1116 |
+
Tarsal-carpal
|
| 1117 |
+
Tarsal-carpal coalition
|
| 1118 |
+
Tatton-Brown-Rahman
|
| 1119 |
+
Teebi
|
| 1120 |
+
Teebi hypertelorism
|
| 1121 |
+
Temple
|
| 1122 |
+
Temple-Baraitser
|
| 1123 |
+
Temtamy
|
| 1124 |
+
Temtamy preaxial brachydactyly
|
| 1125 |
+
Tenorio
|
| 1126 |
+
Tessadori-van
|
| 1127 |
+
Tessadori-van Haaften neurodevelopmental
|
| 1128 |
+
Tetra-amelia
|
| 1129 |
+
Tetraamelia
|
| 1130 |
+
Thauvin-Robinet-Faivre
|
| 1131 |
+
Thiamine
|
| 1132 |
+
Thiamine metabolism dysfunction
|
| 1133 |
+
Thiamine-responsive
|
| 1134 |
+
Thiamine-responsive megaloblastic anemia
|
| 1135 |
+
Thoracoabdominal
|
| 1136 |
+
Thrombocytopenia-absent
|
| 1137 |
+
Thrombocytopenia-absent radius
|
| 1138 |
+
Tietz
|
| 1139 |
+
Tietz albinism-deafness
|
| 1140 |
+
Timothy
|
| 1141 |
+
Tn
|
| 1142 |
+
Tn polyagglutination
|
| 1143 |
+
Tolchin-Le
|
| 1144 |
+
Tolchin-Le Caignec
|
| 1145 |
+
Tonne-Kalscheuer
|
| 1146 |
+
Tourette
|
| 1147 |
+
Townes-Brocks
|
| 1148 |
+
Townes-Brocks branchiootorenal-like
|
| 1149 |
+
Traboulsi
|
| 1150 |
+
Treacher
|
| 1151 |
+
Treacher Collins
|
| 1152 |
+
Treacher-Collins
|
| 1153 |
+
Trichodontoosseous
|
| 1154 |
+
Trichohepatoenteric
|
| 1155 |
+
Trichohepatoneurodevelopmental
|
| 1156 |
+
Trichorhinophalangeal
|
| 1157 |
+
Triokinase
|
| 1158 |
+
Triokinase and FMN cyclase deficiency
|
| 1159 |
+
Triphalangeal
|
| 1160 |
+
Triphalangeal thumb-polysyndactyly
|
| 1161 |
+
Trismus-pseudocamptodactyly
|
| 1162 |
+
Troyer
|
| 1163 |
+
Tukel
|
| 1164 |
+
Tumor
|
| 1165 |
+
Tumor predisposition
|
| 1166 |
+
Turner
|
| 1167 |
+
Turnpenny-Fry
|
| 1168 |
+
UV-sensitive
|
| 1169 |
+
Ulnar-mammary
|
| 1170 |
+
Uncombable
|
| 1171 |
+
Uncombable hair
|
| 1172 |
+
Urofacial
|
| 1173 |
+
Uruguay
|
| 1174 |
+
Uruguay faciocardiomusculoskeletal
|
| 1175 |
+
Usher
|
| 1176 |
+
Usmani-Riazuddin
|
| 1177 |
+
VBIH
|
| 1178 |
+
VEXAS
|
| 1179 |
+
VII
|
| 1180 |
+
VIII
|
| 1181 |
+
VISS
|
| 1182 |
+
Van
|
| 1183 |
+
Van Esch-O'Driscoll
|
| 1184 |
+
Van Maldergem
|
| 1185 |
+
Van den Ende-Gupta
|
| 1186 |
+
Vasculitis
|
| 1187 |
+
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects
|
| 1188 |
+
Velocardiofacial
|
| 1189 |
+
Ventricular
|
| 1190 |
+
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency
|
| 1191 |
+
Verheij
|
| 1192 |
+
Vertebral
|
| 1193 |
+
Vertebral, cardiac, renal, and limb defects
|
| 1194 |
+
Ververi-Brady
|
| 1195 |
+
Vici
|
| 1196 |
+
Vissers-Bodmer
|
| 1197 |
+
Vohwinkel
|
| 1198 |
+
Vulto-van
|
| 1199 |
+
Vulto-van Silfout-de Vries
|
| 1200 |
+
WAGRO
|
| 1201 |
+
WHIM
|
| 1202 |
+
Waardenburg
|
| 1203 |
+
Wagner
|
| 1204 |
+
Waisman
|
| 1205 |
+
Warburg
|
| 1206 |
+
Warburg micro
|
| 1207 |
+
Warburg-Cinotti
|
| 1208 |
+
Warsaw
|
| 1209 |
+
Warsaw breakage
|
| 1210 |
+
Watson
|
| 1211 |
+
Weaver
|
| 1212 |
+
Webb-Dattani
|
| 1213 |
+
Weill-Marchesani
|
| 1214 |
+
Weill-Marchesani 4
|
| 1215 |
+
Weiss-Kruszka
|
| 1216 |
+
Werner
|
| 1217 |
+
West
|
| 1218 |
+
White-Kernohan
|
| 1219 |
+
White-Sutton
|
| 1220 |
+
Wieacker-Wolff
|
| 1221 |
+
Wiedemann-Rautenstrauch
|
| 1222 |
+
Wiedemann-Steiner
|
| 1223 |
+
Williams
|
| 1224 |
+
Williams-Beuren
|
| 1225 |
+
Wilms
|
| 1226 |
+
Wilms tumor, aniridia, genitourinary anomalies and mental retardation
|
| 1227 |
+
Wilson-Turner
|
| 1228 |
+
Winchester
|
| 1229 |
+
Wiskott-Aldrich
|
| 1230 |
+
Witteveen-Kolk
|
| 1231 |
+
Wolcott-Rallison
|
| 1232 |
+
Wolf-Hirschhorn
|
| 1233 |
+
Wolff-Parkinson-White
|
| 1234 |
+
Wolfram
|
| 1235 |
+
Wolfram-like
|
| 1236 |
+
Woodhouse-Sakati
|
| 1237 |
+
Woods-Black-Norbury
|
| 1238 |
+
Wrinkly
|
| 1239 |
+
Wrinkly skin
|
| 1240 |
+
XFE
|
| 1241 |
+
XFE progeroid
|
| 1242 |
+
XI
|
| 1243 |
+
XII
|
| 1244 |
+
XII:c
|
| 1245 |
+
Xeroderma
|
| 1246 |
+
Xeroderma pigmentosum, group G/Cockayne
|
| 1247 |
+
Xeroderma pigmentosum, type F/Cockayne
|
| 1248 |
+
Xia-Gibbs
|
| 1249 |
+
Xp11.22
|
| 1250 |
+
Xp11.22 microduplication
|
| 1251 |
+
Xq21
|
| 1252 |
+
Xq21 deletion
|
| 1253 |
+
Xq25
|
| 1254 |
+
Xq25 duplication
|
| 1255 |
+
Yao
|
| 1256 |
+
Yoon-Bellen
|
| 1257 |
+
Yoon-Bellen neurodevelopmental
|
| 1258 |
+
You-Hoover-Fong
|
| 1259 |
+
Yuan-Harel-Lupski
|
| 1260 |
+
Yunis-Varon
|
| 1261 |
+
ZTTK
|
| 1262 |
+
Zaki
|
| 1263 |
+
Zimmermann-Laband
|
| 1264 |
+
a1
|
| 1265 |
+
a1 and b
|
| 1266 |
+
a10
|
| 1267 |
+
a3
|
| 1268 |
+
a4
|
| 1269 |
+
aarskog-scott
|
| 1270 |
+
abiotrophie
|
| 1271 |
+
abnormal
|
| 1272 |
+
abnormal hair
|
| 1273 |
+
abruzzo-erickson
|
| 1274 |
+
acampomelic campomelic
|
| 1275 |
+
acanthosis
|
| 1276 |
+
accelerated
|
| 1277 |
+
acetazolamide-responsive
|
| 1278 |
+
acetyl-coa
|
| 1279 |
+
achondrogenesis ib
|
| 1280 |
+
aciduria with
|
| 1281 |
+
acne
|
| 1282 |
+
acral punctate
|
| 1283 |
+
acrocapitofemoral
|
| 1284 |
+
acrochordon préauriculaire
|
| 1285 |
+
acrochordon périauriculaire
|
| 1286 |
+
acrodermatitis
|
| 1287 |
+
acrodysostosis
|
| 1288 |
+
acrofacial dysostosis
|
| 1289 |
+
acromegaloid
|
| 1290 |
+
acromicric
|
| 1291 |
+
acropectoral
|
| 1292 |
+
acropectorovertebral dysplasia
|
| 1293 |
+
acth-independent macronodular
|
| 1294 |
+
acth-secreting
|
| 1295 |
+
acute
|
| 1296 |
+
acute febrile
|
| 1297 |
+
acute lymphoblastic
|
| 1298 |
+
acute lymphoblastic leukemia
|
| 1299 |
+
acute myeloid
|
| 1300 |
+
acute nonlymphocytic
|
| 1301 |
+
acute promyelocytic
|
| 1302 |
+
acyl-coa
|
| 1303 |
+
acétabula
|
| 1304 |
+
adams-oliver
|
| 1305 |
+
adductor paralysis
|
| 1306 |
+
adelaide type
|
| 1307 |
+
adenine dinucleotide synthetase deficiency
|
| 1308 |
+
adenine phosphoribosyltransferase
|
| 1309 |
+
adenomatous polyposis
|
| 1310 |
+
adenosine
|
| 1311 |
+
adenosine deaminase
|
| 1312 |
+
adenosyltransferase i/iii
|
| 1313 |
+
adenylosuccinase
|
| 1314 |
+
adiponectin
|
| 1315 |
+
adrenal adenoma somatic
|
| 1316 |
+
adrenal hyperplasia
|
| 1317 |
+
adrenal hypoplasia
|
| 1318 |
+
adrenal insufficiency
|
| 1319 |
+
adrenocorticotropic
|
| 1320 |
+
adult
|
| 1321 |
+
adult onset
|
| 1322 |
+
adult-onset
|
| 1323 |
+
agammaglobulinemia
|
| 1324 |
+
agammaglobulinemia 8b
|
| 1325 |
+
agammaglobulinémie
|
| 1326 |
+
age-related cortical susceptibility to
|
| 1327 |
+
age-related hearing
|
| 1328 |
+
agenesis of
|
| 1329 |
+
aggrecan
|
| 1330 |
+
agnathia-otocephaly
|
| 1331 |
+
aiblesse
|
| 1332 |
+
aica-ribosiduria
|
| 1333 |
+
aicardi
|
| 1334 |
+
ain-naz
|
| 1335 |
+
akinesia
|
| 1336 |
+
al kaissi
|
| 1337 |
+
al-gazali
|
| 1338 |
+
al-gazali-bakalinova
|
| 1339 |
+
al-raqad
|
| 1340 |
+
alagille
|
| 1341 |
+
albinism with sensorineural deafness
|
| 1342 |
+
alcohol dependence
|
| 1343 |
+
alcohol-induced
|
| 1344 |
+
alexander disease
|
| 1345 |
+
alkaline
|
| 1346 |
+
alkuraya-kucinskas
|
| 1347 |
+
allan-herndon-dudley
|
| 1348 |
+
allergic
|
| 1349 |
+
allo-immunisation fœtomaternelle
|
| 1350 |
+
alopecia
|
| 1351 |
+
alopecia areata
|
| 1352 |
+
alpha-b crystallin-related
|
| 1353 |
+
alpha-fetoprotein
|
| 1354 |
+
alpha-methylacetoacetic aciduria
|
| 1355 |
+
alpha-methylacyl-coa racemase
|
| 1356 |
+
alpha-thalassemia myelodysplasia
|
| 1357 |
+
alpha-thalassemia/impaired
|
| 1358 |
+
alpha-thalassemia/mental retardation
|
| 1359 |
+
alport
|
| 1360 |
+
alstrom
|
| 1361 |
+
alternating hemiplegia
|
| 1362 |
+
alternating hemiplegia of childhood
|
| 1363 |
+
alveolar capillary dysplasia with misalignment
|
| 1364 |
+
alzahrani-kuwahara
|
| 1365 |
+
alzheimer disease-
|
| 1366 |
+
ambras
|
| 1367 |
+
amelogenesis
|
| 1368 |
+
amelogenesis imperfecta and skeletal
|
| 1369 |
+
amincissement choriorétinien
|
| 1370 |
+
amino-acidurie
|
| 1371 |
+
aminoacidurie
|
| 1372 |
+
aminoacidurie généralisée
|
| 1373 |
+
aminoacylase
|
| 1374 |
+
amish
|
| 1375 |
+
amorph
|
| 1376 |
+
amyotrophic lateral
|
| 1377 |
+
amyotrophic lateral sclerosis
|
| 1378 |
+
amyotrophic lateral sclerosis-parkinsonism/dementia
|
| 1379 |
+
anauxetic dysplasia
|
| 1380 |
+
and
|
| 1381 |
+
and acne
|
| 1382 |
+
and autistic features
|
| 1383 |
+
and autoimmunity
|
| 1384 |
+
and congenital heart defects
|
| 1385 |
+
and diabetes
|
| 1386 |
+
and enteropathy
|
| 1387 |
+
and episodic
|
| 1388 |
+
and genital
|
| 1389 |
+
and immunodeficiency
|
| 1390 |
+
and impaired
|
| 1391 |
+
and limb
|
| 1392 |
+
and myopia
|
| 1393 |
+
and nail
|
| 1394 |
+
and neurodegeneration
|
| 1395 |
+
and palmoplantar keratoderma
|
| 1396 |
+
and respiratory insufficiency
|
| 1397 |
+
and sclerosing
|
| 1398 |
+
and spasticity
|
| 1399 |
+
and symptomatic
|
| 1400 |
+
and testicular
|
| 1401 |
+
androgen
|
| 1402 |
+
anemie
|
| 1403 |
+
aneurysmal bone cysts
|
| 1404 |
+
angelman
|
| 1405 |
+
angiomatoid
|
| 1406 |
+
angiopathic
|
| 1407 |
+
angiotensin i-converting enzyme
|
| 1408 |
+
anisomastia
|
| 1409 |
+
ankyrin-b-related
|
| 1410 |
+
anneau de kayser-fleischer
|
| 1411 |
+
annular epidermolytic
|
| 1412 |
+
anomalie choriorétinienne
|
| 1413 |
+
anophtalmie
|
| 1414 |
+
anterior maxillary
|
| 1415 |
+
antibody deficiency
|
| 1416 |
+
antihélix anormal
|
| 1417 |
+
antithrombin iii
|
| 1418 |
+
antitragus
|
| 1419 |
+
antley-bixler
|
| 1420 |
+
aortic
|
| 1421 |
+
aortic valve disease
|
| 1422 |
+
apert
|
| 1423 |
+
aplasia cutis congenita
|
| 1424 |
+
aplastic
|
| 1425 |
+
apolipoprotein
|
| 1426 |
+
apolipoprotein c-iii
|
| 1427 |
+
apolipoprotein gene cluster deletion
|
| 1428 |
+
arboleda-tham
|
| 1429 |
+
argininosuccinic aciduria
|
| 1430 |
+
armfield
|
| 1431 |
+
arnold-chiari
|
| 1432 |
+
aromatic l-amino acid decarboxylase
|
| 1433 |
+
arrhythmogenic right ventricular
|
| 1434 |
+
arrhythmogenic right ventricular dysplasia
|
| 1435 |
+
arrhythmogenic right ventricular dysplasia with mild palmoplantar keratoderma and woolly hair
|
| 1436 |
+
arriérations mentales
|
| 1437 |
+
arthrite juvénile
|
| 1438 |
+
arthrochalasia
|
| 1439 |
+
arthrogrypose
|
| 1440 |
+
ary-épiglottiques
|
| 1441 |
+
aréflexie
|
| 1442 |
+
aspartate aminotransferase serum level of
|
| 1443 |
+
asperger
|
| 1444 |
+
aspirin-induced
|
| 1445 |
+
asthma
|
| 1446 |
+
asthma-related
|
| 1447 |
+
atad3 gene cluster
|
| 1448 |
+
ataxia-pancytopenia
|
| 1449 |
+
ataxia-telangiectasia
|
| 1450 |
+
ataxia-telangiectasia-like disorder
|
| 1451 |
+
atelis
|
| 1452 |
+
athabascan
|
| 1453 |
+
atresie biliaire
|
| 1454 |
+
atrioventricular septal
|
| 1455 |
+
atrioventricular septal defect
|
| 1456 |
+
atrophie choriorétinienne
|
| 1457 |
+
attenuated
|
| 1458 |
+
auditory
|
| 1459 |
+
auditory canal
|
| 1460 |
+
auditory neuropathy and optic
|
| 1461 |
+
auriculaire hypoplasique/petit
|
| 1462 |
+
auriculocondylar
|
| 1463 |
+
autoinflammatory
|
| 1464 |
+
autoinflammatory-pancytopenia
|
| 1465 |
+
avellino
|
| 1466 |
+
axillary
|
| 1467 |
+
b
|
| 1468 |
+
bachmann-bupp
|
| 1469 |
+
baker-gordon
|
| 1470 |
+
baller-gerold
|
| 1471 |
+
band
|
| 1472 |
+
bardet-biedl
|
| 1473 |
+
bart
|
| 1474 |
+
bart-pumphrey
|
| 1475 |
+
basan
|
| 1476 |
+
basilicata-akhtar
|
| 1477 |
+
bazex
|
| 1478 |
+
beaulieu-boycott-innes
|
| 1479 |
+
beck-fahrner
|
| 1480 |
+
becker
|
| 1481 |
+
beckwith-wiedemann
|
| 1482 |
+
behavioral abnormalities and neuropsychiatric
|
| 1483 |
+
bent bone dysplasia
|
| 1484 |
+
benzene toxicity
|
| 1485 |
+
bernard-soulier
|
| 1486 |
+
beta-2-adrenoreceptor
|
| 1487 |
+
bethlem myopathy
|
| 1488 |
+
bietti crystalline corneoretinal
|
| 1489 |
+
bilateral
|
| 1490 |
+
bilateral frontoparietal
|
| 1491 |
+
bilateral perisylvian
|
| 1492 |
+
biliary cirrhosis
|
| 1493 |
+
billuart
|
| 1494 |
+
biotin-responsive
|
| 1495 |
+
biotinidase deficiency
|
| 1496 |
+
birbeck
|
| 1497 |
+
birk-landau-perez
|
| 1498 |
+
bjornstad
|
| 1499 |
+
bladder
|
| 1500 |
+
bladder cancer
|
| 1501 |
+
blastome pleuropulmonaire
|
| 1502 |
+
blau
|
| 1503 |
+
blepharocheilodontic
|
| 1504 |
+
blomstrand
|
| 1505 |
+
bmiq11
|
| 1506 |
+
bombay
|
| 1507 |
+
bone marrow failure and diabetes mellitus
|
| 1508 |
+
boomerang
|
| 1509 |
+
bor-duane hydrocephalus
|
| 1510 |
+
borjeson-forssman-lehmann
|
| 1511 |
+
bornholm eye disease
|
| 1512 |
+
borochowitz-cormier-daire
|
| 1513 |
+
bosma arhinia microphthalmia
|
| 1514 |
+
bothnia retinal
|
| 1515 |
+
boucher-neuhauser
|
| 1516 |
+
brachydactyly-syndactyly
|
| 1517 |
+
brainstem dysgenesis
|
| 1518 |
+
branched-chain keto acid dehydrogenase kinase
|
| 1519 |
+
branchiootic
|
| 1520 |
+
breast
|
| 1521 |
+
breast cancer
|
| 1522 |
+
breast-ovarian
|
| 1523 |
+
brittle cornea
|
| 1524 |
+
brody
|
| 1525 |
+
brooke-spiegler
|
| 1526 |
+
brown-vialetto-van laere
|
| 1527 |
+
bruck
|
| 1528 |
+
brunet-wagner neurodevelopmental
|
| 1529 |
+
brunner
|
| 1530 |
+
buratti-harel
|
| 1531 |
+
burn scar-related
|
| 1532 |
+
burst-suppression
|
| 1533 |
+
buruli
|
| 1534 |
+
buschke-ollendorff
|
| 1535 |
+
butterfly-shaped
|
| 1536 |
+
butyrylcholinesterase deficiency
|
| 1537 |
+
c1s
|
| 1538 |
+
c2
|
| 1539 |
+
c7 deficiency
|
| 1540 |
+
cabezas
|
| 1541 |
+
caffey disease
|
| 1542 |
+
calcanéum
|
| 1543 |
+
calcific
|
| 1544 |
+
campomelic
|
| 1545 |
+
camptodactylie
|
| 1546 |
+
camptodactylie du majeur
|
| 1547 |
+
camptodactylie métacarpophalangienne
|
| 1548 |
+
camptodactylie partielle
|
| 1549 |
+
camptodactylie sévère
|
| 1550 |
+
camptodactyly
|
| 1551 |
+
camptodactyly-arthropathy-coxa vara-pericarditis
|
| 1552 |
+
camptothecin-resistant
|
| 1553 |
+
canal atrio-ventriculaire
|
| 1554 |
+
canal atrio-ventriculaire commun
|
| 1555 |
+
canal atrioventriculaire
|
| 1556 |
+
canal auriculoventriculaire
|
| 1557 |
+
canal carcinoma
|
| 1558 |
+
canal lacrymo-nasal
|
| 1559 |
+
canal vertébral
|
| 1560 |
+
canavan disease
|
| 1561 |
+
cap myopathy
|
| 1562 |
+
carbamazepine-induced
|
| 1563 |
+
carbamoylphosphate synthetase i deficiency
|
| 1564 |
+
carboxypeptidase
|
| 1565 |
+
carcinoma
|
| 1566 |
+
cardiac
|
| 1567 |
+
cardiac arrhythmia
|
| 1568 |
+
cardiac arrhythmias
|
| 1569 |
+
cardiac valvular
|
| 1570 |
+
cardiac valvular dysplasia
|
| 1571 |
+
cardiac-urogenital
|
| 1572 |
+
cardiofacioneurodevelopmental
|
| 1573 |
+
carey-fineman-ziter
|
| 1574 |
+
carnitine-acylcarnitine
|
| 1575 |
+
carotid intimal medial
|
| 1576 |
+
carotid intimal medial thickness
|
| 1577 |
+
carpal
|
| 1578 |
+
carpus curvus
|
| 1579 |
+
cataract
|
| 1580 |
+
catecholaminergic
|
| 1581 |
+
catel-manzke
|
| 1582 |
+
catifa
|
| 1583 |
+
catshl
|
| 1584 |
+
cayler cardiofacial
|
| 1585 |
+
cbla
|
| 1586 |
+
cblb
|
| 1587 |
+
cblf
|
| 1588 |
+
cblj
|
| 1589 |
+
cdags
|
| 1590 |
+
cebalid
|
| 1591 |
+
cenani-lenz syndactyly
|
| 1592 |
+
centronuclear
|
| 1593 |
+
centronuclear myopathy
|
| 1594 |
+
centrotemporal epilepsy
|
| 1595 |
+
cerebellar
|
| 1596 |
+
cerebellar ataxia
|
| 1597 |
+
cerebellar ataxia brain abnormalities and cardiac
|
| 1598 |
+
cerebellar ataxia deafness
|
| 1599 |
+
cerebellar ataxia neuropathy
|
| 1600 |
+
cerebellar atrophy with seizures and
|
| 1601 |
+
cerebellar hypoplasia
|
| 1602 |
+
cerebellar hypoplasia/atrophy epilepsy
|
| 1603 |
+
cerebral
|
| 1604 |
+
cerebral arteriopathy with subcortical infarcts and
|
| 1605 |
+
cerebral creatine deficiency
|
| 1606 |
+
cerebral dysgenesis
|
| 1607 |
+
cerebral-cerebellar-coloboma
|
| 1608 |
+
cerebrocostomandibular
|
| 1609 |
+
cerebrooculofacioskeletal
|
| 1610 |
+
cerebroretinal microangiopathy with calcifications and
|
| 1611 |
+
cerebroretinal microangiopathy with calcifications and cysts
|
| 1612 |
+
cerebrovascular
|
| 1613 |
+
cervical carcinoma
|
| 1614 |
+
chambre antérieure
|
| 1615 |
+
chanarin-dorfman
|
| 1616 |
+
chand
|
| 1617 |
+
charcot-marie-tooth
|
| 1618 |
+
charcot-marie-tooth disease
|
| 1619 |
+
charcot-marie-tooth disease axonal
|
| 1620 |
+
charcot-marie-tooth disease foot
|
| 1621 |
+
charles osborne
|
| 1622 |
+
charlevoix-saguenay
|
| 1623 |
+
chediak-higashi
|
| 1624 |
+
cheyne-stokes
|
| 1625 |
+
chilblain
|
| 1626 |
+
childhood
|
| 1627 |
+
childhood-onset
|
| 1628 |
+
childhood-onset stress-induced
|
| 1629 |
+
chitotriosidase
|
| 1630 |
+
cholestasis-lymphedema
|
| 1631 |
+
cholesteryl
|
| 1632 |
+
chondrodysplasie métaphysaire
|
| 1633 |
+
chopra-amiel-gordon
|
| 1634 |
+
chops
|
| 1635 |
+
choroid plexus
|
| 1636 |
+
choréo-athetoïdes
|
| 1637 |
+
choréo-athétose
|
| 1638 |
+
christ-siemens-touraine
|
| 1639 |
+
christianson
|
| 1640 |
+
chromosome 6pter-p24 deletion
|
| 1641 |
+
chung-jansen
|
| 1642 |
+
ciliary
|
| 1643 |
+
cinca
|
| 1644 |
+
cincinnati
|
| 1645 |
+
cisplatin-induced
|
| 1646 |
+
ck
|
| 1647 |
+
claes-jensen
|
| 1648 |
+
clapo
|
| 1649 |
+
claude bernard-horner
|
| 1650 |
+
cleft palate proliferative retinopathy and developmental
|
| 1651 |
+
cleft palate with
|
| 1652 |
+
clinodactylie
|
| 1653 |
+
clouston
|
| 1654 |
+
clumped
|
| 1655 |
+
clumsy
|
| 1656 |
+
cockayne
|
| 1657 |
+
cofactor ii
|
| 1658 |
+
cohen-gibson
|
| 1659 |
+
col du fémur
|
| 1660 |
+
colchicine
|
| 1661 |
+
colobome choriorétinien
|
| 1662 |
+
colobome choroïdien
|
| 1663 |
+
colobome de la paupière
|
| 1664 |
+
colobome de la paupière inférieure
|
| 1665 |
+
colobome irien
|
| 1666 |
+
colobome oculaire
|
| 1667 |
+
combined
|
| 1668 |
+
combined immunodeficiency and megaloblastic anemia with or
|
| 1669 |
+
combined immunodeficiency with microcephaly growth retardation
|
| 1670 |
+
compartement stéréotypique
|
| 1671 |
+
compton-north
|
| 1672 |
+
congenital
|
| 1673 |
+
congenital amaurosis
|
| 1674 |
+
congenital amegakaryocytic
|
| 1675 |
+
congenital anomalies-hypotonia-seizures
|
| 1676 |
+
congenital anomalies-neurodevelopmental
|
| 1677 |
+
congenital bilateral
|
| 1678 |
+
congenital cataract
|
| 1679 |
+
congenital cataracts
|
| 1680 |
+
congenital generalized
|
| 1681 |
+
congenital heart defects
|
| 1682 |
+
congenital myopathy with excess of muscle spindles
|
| 1683 |
+
congenital nuclear
|
| 1684 |
+
congenital short bowel
|
| 1685 |
+
congenital stationary
|
| 1686 |
+
congenital with brain and eye
|
| 1687 |
+
congenital with impaired
|
| 1688 |
+
congenital with inner ear
|
| 1689 |
+
congenital with structured cores
|
| 1690 |
+
congenital without impaired
|
| 1691 |
+
conotruncal anomaly
|
| 1692 |
+
conotruncal heart
|
| 1693 |
+
contractural arachnodactyly congenital
|
| 1694 |
+
coralliform
|
| 1695 |
+
corne ventrale
|
| 1696 |
+
cornelia de lange
|
| 1697 |
+
cornée
|
| 1698 |
+
coronary artery
|
| 1699 |
+
coronary artery disease
|
| 1700 |
+
cortex cérébral petit
|
| 1701 |
+
costo-chondrales
|
| 1702 |
+
coumarin resistance
|
| 1703 |
+
cpt ii
|
| 1704 |
+
cranioectodermal dysplasia
|
| 1705 |
+
craniofacial
|
| 1706 |
+
craniofacial-deafness-hand
|
| 1707 |
+
craniofacial-skeletal-dermatologic
|
| 1708 |
+
craniolenticulosutural
|
| 1709 |
+
craniometaphyseal
|
| 1710 |
+
craniosynostosis with radiohumeral
|
| 1711 |
+
creatine phosphokinase
|
| 1712 |
+
creutzfeldt-jakob
|
| 1713 |
+
creutzfeldt-jakob disease
|
| 1714 |
+
crigler-najjar
|
| 1715 |
+
crohn
|
| 1716 |
+
crohn disease
|
| 1717 |
+
crohn disease-associated growth
|
| 1718 |
+
crouzon
|
| 1719 |
+
cryohydrocytosis with neurologic
|
| 1720 |
+
crâniosynostose
|
| 1721 |
+
crâniosynostose prématurée
|
| 1722 |
+
culler-jones
|
| 1723 |
+
currarino
|
| 1724 |
+
curry-jones
|
| 1725 |
+
curth-macklin
|
| 1726 |
+
cystic fibrosis
|
| 1727 |
+
cystoid
|
| 1728 |
+
cysts 2a
|
| 1729 |
+
cytochrome-c oxydase
|
| 1730 |
+
czech
|
| 1731 |
+
céphaline
|
| 1732 |
+
d-glyceric aciduria
|
| 1733 |
+
dandy-walker
|
| 1734 |
+
danon
|
| 1735 |
+
darier
|
| 1736 |
+
davignon-chauveau
|
| 1737 |
+
ddb-negative subtype
|
| 1738 |
+
deafness autosomal recessive
|
| 1739 |
+
debrisoquine
|
| 1740 |
+
decreased urinary activity
|
| 1741 |
+
defaillance cardiaque
|
| 1742 |
+
dehydrated hereditary
|
| 1743 |
+
delpire-mcneill
|
| 1744 |
+
delta-beta thalassemia
|
| 1745 |
+
dentatorubral-pallidoluysian
|
| 1746 |
+
dentin
|
| 1747 |
+
dentinogenesis
|
| 1748 |
+
denys-drash
|
| 1749 |
+
dermatite exfoliatrice
|
| 1750 |
+
dermite
|
| 1751 |
+
desanto-shinawi
|
| 1752 |
+
desbuquois dysplasia
|
| 1753 |
+
desmoid disease
|
| 1754 |
+
developmental delay
|
| 1755 |
+
developmental delay with short stature
|
| 1756 |
+
di rocco
|
| 1757 |
+
diabète juvénile
|
| 1758 |
+
diamond blackfan
|
| 1759 |
+
diamond-blackfan
|
| 1760 |
+
diamètre antéro-postérieur
|
| 1761 |
+
diaphyseal medullary stenosis with malignant fibrous
|
| 1762 |
+
digenic
|
| 1763 |
+
digenic form
|
| 1764 |
+
digenic gjb2/
|
| 1765 |
+
dihydrolipoamide dehydrogenase
|
| 1766 |
+
dihydropyrimidine dehydrogenase
|
| 1767 |
+
dilated 1b
|
| 1768 |
+
dilated cardiomyopathy with woolly hair
|
| 1769 |
+
dimethylglycine dehydrogenase
|
| 1770 |
+
dimélie fibulaire
|
| 1771 |
+
disordered
|
| 1772 |
+
disordered steroidogenesis
|
| 1773 |
+
disseminated superficial actinic
|
| 1774 |
+
distichiasis
|
| 1775 |
+
dminnution
|
| 1776 |
+
donnai-barrow
|
| 1777 |
+
donohue
|
| 1778 |
+
dowling-degos
|
| 1779 |
+
doyne honeycomb degeneration of retina
|
| 1780 |
+
dravet
|
| 1781 |
+
drug
|
| 1782 |
+
drug-induced liver injury
|
| 1783 |
+
dubin-johnson
|
| 1784 |
+
ductus
|
| 1785 |
+
dursun
|
| 1786 |
+
dyschromatosis
|
| 1787 |
+
dyskeratosis
|
| 1788 |
+
dysostose mandibulo-faciale
|
| 1789 |
+
dysostosis
|
| 1790 |
+
dysostosis multiplex
|
| 1791 |
+
dysplasia progeroid
|
| 1792 |
+
dysplasia with congenital
|
| 1793 |
+
dyssegmental
|
| 1794 |
+
dystonia
|
| 1795 |
+
dystonia-parkinsonism
|
| 1796 |
+
dystrophie choriorétinienne
|
| 1797 |
+
dysérythropoïèse congénitale
|
| 1798 |
+
dégénérescence choriorétinienne progressive
|
| 1799 |
+
e55
|
| 1800 |
+
east texas
|
| 1801 |
+
ectodermal
|
| 1802 |
+
ectodermal dysplasia
|
| 1803 |
+
ectodermal dysplasia-syndactyly
|
| 1804 |
+
ectodermal dysplasia/short stature
|
| 1805 |
+
ectopia lentis
|
| 1806 |
+
edict
|
| 1807 |
+
eeg anormal
|
| 1808 |
+
electromyogramme anormal
|
| 1809 |
+
electrorétinogramme
|
| 1810 |
+
ellis-van creveld
|
| 1811 |
+
emg
|
| 1812 |
+
emphysema due to aat
|
| 1813 |
+
enamel-renal
|
| 1814 |
+
encephalopathy
|
| 1815 |
+
encephalopathy with neuropsychiatric features
|
| 1816 |
+
encéphalographie gazeuse
|
| 1817 |
+
endocrine-cerebroosteodysplasia
|
| 1818 |
+
endothelial
|
| 1819 |
+
enlarged vestibular
|
| 1820 |
+
enlarged vestibular aqueduct
|
| 1821 |
+
epicanthus
|
| 1822 |
+
epidermodysplasia
|
| 1823 |
+
epidermolytic hyperkeratosis
|
| 1824 |
+
epilépsie
|
| 1825 |
+
epiphyses
|
| 1826 |
+
episodic
|
| 1827 |
+
episodic kinesigenic dyskinesia
|
| 1828 |
+
erg aboli
|
| 1829 |
+
erg anormal
|
| 1830 |
+
erythrokeratodermia variabilis
|
| 1831 |
+
escobar
|
| 1832 |
+
esophageal
|
| 1833 |
+
estrogen
|
| 1834 |
+
ethylmalonic
|
| 1835 |
+
ewing
|
| 1836 |
+
exocrine pancreatic insufficiency
|
| 1837 |
+
extraoral halitosis
|
| 1838 |
+
exudative vitreoretinopathy
|
| 1839 |
+
f95 - tics
|
| 1840 |
+
fabry disease
|
| 1841 |
+
facial paresis
|
| 1842 |
+
facioscapulohumeral
|
| 1843 |
+
factor xi
|
| 1844 |
+
factor xiiia
|
| 1845 |
+
fanconi
|
| 1846 |
+
fanconi renotubular
|
| 1847 |
+
fascioscapulohumeral
|
| 1848 |
+
fast-channel
|
| 1849 |
+
fatty liver acute
|
| 1850 |
+
faundes-banka
|
| 1851 |
+
fazio-londe
|
| 1852 |
+
feingold
|
| 1853 |
+
female-limited
|
| 1854 |
+
female-specific]
|
| 1855 |
+
fente labio-palatine
|
| 1856 |
+
fente palatine submuqueuse
|
| 1857 |
+
fente palatine/labiale
|
| 1858 |
+
ferguson-bonni neurodevelopmental
|
| 1859 |
+
ferritinémie
|
| 1860 |
+
fetal
|
| 1861 |
+
fibrocalculous pancreatic
|
| 1862 |
+
fibromuscular
|
| 1863 |
+
fibrosis lung
|
| 1864 |
+
fibula rudimentaire
|
| 1865 |
+
finca
|
| 1866 |
+
finkel
|
| 1867 |
+
finnish
|
| 1868 |
+
fissure palatine
|
| 1869 |
+
fleck
|
| 1870 |
+
fleck retina
|
| 1871 |
+
fletcher factor
|
| 1872 |
+
follicular lymphoma
|
| 1873 |
+
fontaine progeroid
|
| 1874 |
+
fosse postérieure
|
| 1875 |
+
frank-ter haar
|
| 1876 |
+
fraser
|
| 1877 |
+
frasier
|
| 1878 |
+
freeman-sheldon
|
| 1879 |
+
french-canadian
|
| 1880 |
+
frias
|
| 1881 |
+
friedreich
|
| 1882 |
+
friedreich ataxia
|
| 1883 |
+
friedreich ataxia with retained
|
| 1884 |
+
frontotemporal
|
| 1885 |
+
frontotemporal dementia and/or
|
| 1886 |
+
frontotemporal lobar degeneration
|
| 1887 |
+
frontotemporal lobar degeneration with ubiquitin-positive
|
| 1888 |
+
fuchs
|
| 1889 |
+
fuhrmann
|
| 1890 |
+
fumarase deficiency
|
| 1891 |
+
fundus
|
| 1892 |
+
fémur
|
| 1893 |
+
galactokinase deficiency with
|
| 1894 |
+
galactosemia iv
|
| 1895 |
+
gand
|
| 1896 |
+
gapo
|
| 1897 |
+
gastric
|
| 1898 |
+
gastric adenocarcinoma and proximal polyposis of the
|
| 1899 |
+
gastrointestinale
|
| 1900 |
+
gelatinous drop-like
|
| 1901 |
+
geleophysic dysplasia
|
| 1902 |
+
geniospasm
|
| 1903 |
+
geroderma osteodysplasticum
|
| 1904 |
+
gerstmann-straussler disease
|
| 1905 |
+
gh-secreting
|
| 1906 |
+
giant axonal
|
| 1907 |
+
gilles de la tourette
|
| 1908 |
+
gillessen-kaesbach-nishimura
|
| 1909 |
+
gitelman
|
| 1910 |
+
glaucoma 1a
|
| 1911 |
+
glaucoma 1b
|
| 1912 |
+
glaucoma 1c
|
| 1913 |
+
glaucoma 1d primary open angle
|
| 1914 |
+
glaucoma 3a
|
| 1915 |
+
globoside
|
| 1916 |
+
glomerulopathy with fibronectin
|
| 1917 |
+
glomuvenous
|
| 1918 |
+
glomérulopathie
|
| 1919 |
+
glucocorticoid
|
| 1920 |
+
glucocorticoid-remediable
|
| 1921 |
+
glutaric acidemia
|
| 1922 |
+
glutaric acidemia iia
|
| 1923 |
+
glutaric aciduria iii
|
| 1924 |
+
glutathione synthetase
|
| 1925 |
+
glycerol
|
| 1926 |
+
glycine
|
| 1927 |
+
glycine encephalopathy with normal serum
|
| 1928 |
+
glycoprotein iv
|
| 1929 |
+
glycosylphosphatidylinositol
|
| 1930 |
+
glycosylphosphatidylinositol biosynthesis defect
|
| 1931 |
+
glyoxalase ii
|
| 1932 |
+
glénoïde hypoplasique
|
| 1933 |
+
goeminne tkcr
|
| 1934 |
+
goldberg-shprintzen megacolon
|
| 1935 |
+
gpapp
|
| 1936 |
+
graft-versus-host
|
| 1937 |
+
granulomatosis with polyangiitis
|
| 1938 |
+
gray platelet
|
| 1939 |
+
greenberg skeletal
|
| 1940 |
+
greig cephalopolysyndactyly
|
| 1941 |
+
griscelli
|
| 1942 |
+
guttmacher
|
| 1943 |
+
hackman-di donato
|
| 1944 |
+
hailey-hailey
|
| 1945 |
+
haim-munk
|
| 1946 |
+
hair
|
| 1947 |
+
hajdu-cheney
|
| 1948 |
+
halperin-birk
|
| 1949 |
+
hamamy
|
| 1950 |
+
hamartomas of tongue
|
| 1951 |
+
hardikar
|
| 1952 |
+
harel-yoon
|
| 1953 |
+
harp
|
| 1954 |
+
hartnup
|
| 1955 |
+
hartsfield
|
| 1956 |
+
hashimoto thyroiditis
|
| 1957 |
+
hearing
|
| 1958 |
+
heart block
|
| 1959 |
+
heimler
|
| 1960 |
+
helicobacter
|
| 1961 |
+
helsmoortel-van der aa
|
| 1962 |
+
hemihypertrophy
|
| 1963 |
+
hemolytic anemia
|
| 1964 |
+
hemolytic uremic
|
| 1965 |
+
hemophagocytic lymphohistiocytosis
|
| 1966 |
+
hemophilia
|
| 1967 |
+
hemophilia b
|
| 1968 |
+
hemorrhagic
|
| 1969 |
+
hemorrhagic diathesis
|
| 1970 |
+
hemorrhagic telangiectasia
|
| 1971 |
+
hengel-maroofian-schols
|
| 1972 |
+
hennekam lymphangiectasia-lymphedema
|
| 1973 |
+
hepatic
|
| 1974 |
+
hepatic adenoma somatic
|
| 1975 |
+
hepatic fibrosis susceptibility
|
| 1976 |
+
hepatocellular
|
| 1977 |
+
hepatorenocardiac degenerative
|
| 1978 |
+
hereditary
|
| 1979 |
+
hereditary benign
|
| 1980 |
+
hereditary benign intraepithelial
|
| 1981 |
+
hereditary congenital
|
| 1982 |
+
hereditary fibrosing
|
| 1983 |
+
hereditary hemorrhagic
|
| 1984 |
+
hereditary motor
|
| 1985 |
+
hereditary neuralgic
|
| 1986 |
+
hereditary sensory
|
| 1987 |
+
herpes-specific
|
| 1988 |
+
heyn-sproul-jackson
|
| 1989 |
+
hiatt-neu-cooper neurodevelopmental
|
| 1990 |
+
high
|
| 1991 |
+
hirschsprung
|
| 1992 |
+
hispanic gamma-delta-beta
|
| 1993 |
+
hiv
|
| 1994 |
+
hiv/aids
|
| 1995 |
+
hodgkin
|
| 1996 |
+
holocarboxylase synthetase deficiency
|
| 1997 |
+
holoprosencephaly
|
| 1998 |
+
holt-oram
|
| 1999 |
+
homocystinuria due to mthfr
|
| 2000 |
+
homocystinuria-megaloblastic
|
| 2001 |
+
homocystinurie
|
| 2002 |
+
hsd10
|
| 2003 |
+
humerofemoral hypoplasia with radiotibial ray
|
| 2004 |
+
hunter-thompson
|
| 2005 |
+
huntington
|
| 2006 |
+
huriez
|
| 2007 |
+
hutchinson-gilford
|
| 2008 |
+
hyaline fibromatosis
|
| 2009 |
+
hydatidiform
|
| 2010 |
+
hydranencephaly with abnormal genitalia
|
| 2011 |
+
hydro-uretère
|
| 2012 |
+
hydrocephalus with congenital
|
| 2013 |
+
hydrocephalus with hirschsprung
|
| 2014 |
+
hydrolethalus
|
| 2015 |
+
hygrome kystique
|
| 2016 |
+
hyperammoniémie légère
|
| 2017 |
+
hyperekplexie héréditaire
|
| 2018 |
+
hyperferritinemia-cataract
|
| 2019 |
+
hyperhidrosis palmaris
|
| 2020 |
+
hyperimmunoglobulin g1
|
| 2021 |
+
hyperinsulinism-hyperammonemia
|
| 2022 |
+
hyperkeratotic cutaneous capillary-venous
|
| 2023 |
+
hypermethioninemia with deficiency of
|
| 2024 |
+
hyperostosis
|
| 2025 |
+
hyperparathyroidism-jaw
|
| 2026 |
+
hyperphosphatasia with impaired intellectual development
|
| 2027 |
+
hyperplasia
|
| 2028 |
+
hyperplastic primary
|
| 2029 |
+
hyperréflexie
|
| 2030 |
+
hypersensitivity
|
| 2031 |
+
hypertonie
|
| 2032 |
+
hypertrichosis
|
| 2033 |
+
hypertrichotic osteochondrodysplasia
|
| 2034 |
+
hypertriglyceridemia
|
| 2035 |
+
hypertrophic
|
| 2036 |
+
hypocalciuric
|
| 2037 |
+
hypofonctionnement surrenal
|
| 2038 |
+
hypogonadotropic hypogonadism
|
| 2039 |
+
hypogonadotropic hypogonadism with
|
| 2040 |
+
hypogonadotropic hypogonadism with or
|
| 2041 |
+
hypogonadotropic hypogonadism with or without anosmia
|
| 2042 |
+
hypogonadotropic hypogonadism without
|
| 2043 |
+
hypohidrose
|
| 2044 |
+
hypohidrotic/hair/nail
|
| 2045 |
+
hypohidrotic/hair/tooth
|
| 2046 |
+
hypohidrotic/hair/tooth/nail
|
| 2047 |
+
hypokalemic tubulopathy and
|
| 2048 |
+
hypomimie
|
| 2049 |
+
hypomyelinating
|
| 2050 |
+
hypopigmentation
|
| 2051 |
+
hypopigmentation rétienne
|
| 2052 |
+
hypoplasie
|
| 2053 |
+
hypoplasie foetale
|
| 2054 |
+
hypoplasie glénoïdienne
|
| 2055 |
+
hypoplasie maxillaire légère
|
| 2056 |
+
hypoplasie maxillozygomatique
|
| 2057 |
+
hypoplasie médullosurrénalienne
|
| 2058 |
+
hypoplasie odontoïde
|
| 2059 |
+
hypoplasie olivo-ponto-cérébelleuse
|
| 2060 |
+
hypoplasie pontocérébelleuse
|
| 2061 |
+
hypoplastic
|
| 2062 |
+
hypoplastic left heart
|
| 2063 |
+
hypoplastic or aplastic tibia with
|
| 2064 |
+
hyporéflexie
|
| 2065 |
+
hyporéflexie/aréflexie
|
| 2066 |
+
hypotonia-cystinuria
|
| 2067 |
+
hypotrichosis-lymphedema-telangiectasia
|
| 2068 |
+
hypotrichosis-lymphedema-telangiectasia-renal defect
|
| 2069 |
+
ichthyosis
|
| 2070 |
+
ichthyosis prematurity
|
| 2071 |
+
igf1
|
| 2072 |
+
igg2
|
| 2073 |
+
ii
|
| 2074 |
+
iiic
|
| 2075 |
+
ikegawa
|
| 2076 |
+
imagawa-matsumoto
|
| 2077 |
+
imerslund-grasbeck
|
| 2078 |
+
immunodeficiency
|
| 2079 |
+
immunodeficiency 1a
|
| 2080 |
+
immunodeficiency 1b mycobacterial and viral
|
| 2081 |
+
immunodeficiency 3a with defective
|
| 2082 |
+
immunodeficiency 3b with defective
|
| 2083 |
+
immunodeficiency 3c with defective
|
| 2084 |
+
immunodeficiency 5a
|
| 2085 |
+
immunodeficiency 7a
|
| 2086 |
+
immunodeficiency 7b
|
| 2087 |
+
immunodeficiency and
|
| 2088 |
+
immunodeficiency and autoimmunity
|
| 2089 |
+
immunodeficiency and hyperinflammation
|
| 2090 |
+
immunodeficiency and hypertrophic
|
| 2091 |
+
immunodeficiency due to defect in
|
| 2092 |
+
immunodeficiency with
|
| 2093 |
+
immunodeficiency with autoimmunity and developmental
|
| 2094 |
+
immunodeficiency with hypogammaglobulinemia and
|
| 2095 |
+
immunodeficiency with pulmonary
|
| 2096 |
+
immunodeficiency with systemic
|
| 2097 |
+
immunodeficiency-centromeric instability-facial anomalies
|
| 2098 |
+
immunoglobulin
|
| 2099 |
+
immunoglobulin a deficiency
|
| 2100 |
+
immunoskeletal dysplasia with neurodevelopmental
|
| 2101 |
+
impaired
|
| 2102 |
+
impaired expressive language
|
| 2103 |
+
impaired intellectual
|
| 2104 |
+
impaired language and dysmorphic
|
| 2105 |
+
impaired language and gait
|
| 2106 |
+
impaired language epilepsy
|
| 2107 |
+
impaired responsiveness to
|
| 2108 |
+
impaired speech
|
| 2109 |
+
impdh2
|
| 2110 |
+
infantile cerebellar-retinal degeneration
|
| 2111 |
+
infantile onset
|
| 2112 |
+
infantile-onset
|
| 2113 |
+
infantile-onset multisystem
|
| 2114 |
+
infection-induced
|
| 2115 |
+
inflammatory
|
| 2116 |
+
inhibitor deficiency
|
| 2117 |
+
insulin resistance
|
| 2118 |
+
insulin resistance-related
|
| 2119 |
+
insulin-dependent
|
| 2120 |
+
insulin-dependent neonatal
|
| 2121 |
+
insulin-resistant
|
| 2122 |
+
interleukin-
|
| 2123 |
+
intervertebral
|
| 2124 |
+
intolerance
|
| 2125 |
+
intracranial berry
|
| 2126 |
+
intrahepatic
|
| 2127 |
+
intrapulmonaire récidivente
|
| 2128 |
+
isidor-toutain
|
| 2129 |
+
isolated congenital
|
| 2130 |
+
isovaleric acidemia
|
| 2131 |
+
iv
|
| 2132 |
+
ivic
|
| 2133 |
+
jackson-weiss
|
| 2134 |
+
jacobsen
|
| 2135 |
+
james
|
| 2136 |
+
jansen de vries
|
| 2137 |
+
john-milton-hagen
|
| 2138 |
+
joubert
|
| 2139 |
+
juberg-hayward
|
| 2140 |
+
junctional 1a
|
| 2141 |
+
junctional 1b
|
| 2142 |
+
junctional 2a
|
| 2143 |
+
junctional 2b
|
| 2144 |
+
junctional 2c
|
| 2145 |
+
junctional 3a
|
| 2146 |
+
junctional 3b
|
| 2147 |
+
junctional 5a
|
| 2148 |
+
junctional 5b
|
| 2149 |
+
juvenile myelomonocytic
|
| 2150 |
+
juvenile myoclonic
|
| 2151 |
+
juvenile recurrent
|
| 2152 |
+
juvenile-onset
|
| 2153 |
+
k25
|
| 2154 |
+
k42
|
| 2155 |
+
k65
|
| 2156 |
+
kaeser
|
| 2157 |
+
kallmann
|
| 2158 |
+
kantaputra type
|
| 2159 |
+
kanzaki
|
| 2160 |
+
keipert
|
| 2161 |
+
kenny-caffey
|
| 2162 |
+
keppen-lubinsky
|
| 2163 |
+
keratoconus
|
| 2164 |
+
keratoendothelitis fugax
|
| 2165 |
+
keratosis
|
| 2166 |
+
keutel
|
| 2167 |
+
khan-khan-katsanis
|
| 2168 |
+
kimberley
|
| 2169 |
+
kindler
|
| 2170 |
+
kininogen
|
| 2171 |
+
kininogène
|
| 2172 |
+
kleefstra
|
| 2173 |
+
klippel-feil
|
| 2174 |
+
klippel-trenaunay-weber
|
| 2175 |
+
knobloch
|
| 2176 |
+
knops
|
| 2177 |
+
kohlschutter-tonz
|
| 2178 |
+
kondoh
|
| 2179 |
+
kosaki overgrowth
|
| 2180 |
+
kowarski
|
| 2181 |
+
krabbe
|
| 2182 |
+
krakow
|
| 2183 |
+
kufor-rakeb
|
| 2184 |
+
kyphoscoliotic
|
| 2185 |
+
l-2-hydroxyglutaric aciduria
|
| 2186 |
+
l-ferritin
|
| 2187 |
+
l03 - phlegmon
|
| 2188 |
+
l50
|
| 2189 |
+
l68
|
| 2190 |
+
l83
|
| 2191 |
+
laing
|
| 2192 |
+
lambert
|
| 2193 |
+
laron dwarfism
|
| 2194 |
+
laurence-moon
|
| 2195 |
+
laurin-sandrow
|
| 2196 |
+
lchad
|
| 2197 |
+
legg-calve-perthes
|
| 2198 |
+
legius
|
| 2199 |
+
lenz-majewski hyperostotic
|
| 2200 |
+
leri pleonosteosis
|
| 2201 |
+
lesch-nyhan
|
| 2202 |
+
lessel-kubisch
|
| 2203 |
+
lethal congenital
|
| 2204 |
+
lethal congenital contractural
|
| 2205 |
+
leucoplasie buccale
|
| 2206 |
+
leukocyte
|
| 2207 |
+
leukoencephalopathy with dystonia and motor
|
| 2208 |
+
leukoplasie
|
| 2209 |
+
levy-shanske
|
| 2210 |
+
lewy
|
| 2211 |
+
leyden-moebius
|
| 2212 |
+
li-campeau
|
| 2213 |
+
li-ghorgani-weisz-hubshman
|
| 2214 |
+
liang-wang
|
| 2215 |
+
liddle
|
| 2216 |
+
lig4
|
| 2217 |
+
lipoma
|
| 2218 |
+
lipoprotein
|
| 2219 |
+
liposarcome myxoïde
|
| 2220 |
+
lipoyltransferase
|
| 2221 |
+
lissencephaly
|
| 2222 |
+
lissencephaly with cerebellar
|
| 2223 |
+
liver
|
| 2224 |
+
liver disease severe congenital
|
| 2225 |
+
lopes-maciel-rodan
|
| 2226 |
+
lowe
|
| 2227 |
+
lower extremity-predominant
|
| 2228 |
+
lowry-wood
|
| 2229 |
+
lumbar
|
| 2230 |
+
lung
|
| 2231 |
+
lung cancer
|
| 2232 |
+
lung disease
|
| 2233 |
+
luo-schoch-yamamoto
|
| 2234 |
+
lupus
|
| 2235 |
+
luscan-lumish
|
| 2236 |
+
luteinizing
|
| 2237 |
+
lutheran
|
| 2238 |
+
lymphangiectasie
|
| 2239 |
+
lymphangiectasie pulmonaire
|
| 2240 |
+
lymphangiome
|
| 2241 |
+
lymphatic
|
| 2242 |
+
lymphedema-distichiasis
|
| 2243 |
+
lymphoid hyperplasia and
|
| 2244 |
+
lynch
|
| 2245 |
+
lysinuric protein
|
| 2246 |
+
lysyl hydroxylase
|
| 2247 |
+
lèvre inférieure éversée
|
| 2248 |
+
légère splénomégalie
|
| 2249 |
+
léiomyome utérin
|
| 2250 |
+
m10 - goutte
|
| 2251 |
+
machado-joseph disease
|
| 2252 |
+
macrothrombocytopenia and granulocyte inclusions with or
|
| 2253 |
+
macular
|
| 2254 |
+
macular degeneration
|
| 2255 |
+
malan
|
| 2256 |
+
male
|
| 2257 |
+
male infertility
|
| 2258 |
+
malignant hyperthermia susceptibility
|
| 2259 |
+
mandibular
|
| 2260 |
+
mandibuloacral
|
| 2261 |
+
mandibulofacial dysostosis guion-almeida
|
| 2262 |
+
mandibulofacial dysostosis with
|
| 2263 |
+
manitoba
|
| 2264 |
+
mantle cell
|
| 2265 |
+
marbach-rustad progeroid
|
| 2266 |
+
marden-walker
|
| 2267 |
+
marfan
|
| 2268 |
+
marfan lipodystrophy
|
| 2269 |
+
marinesco-sjogren
|
| 2270 |
+
maroteaux-lamy
|
| 2271 |
+
marshall
|
| 2272 |
+
marshall-smith
|
| 2273 |
+
martin-probst
|
| 2274 |
+
masp2
|
| 2275 |
+
mast
|
| 2276 |
+
maxillary
|
| 2277 |
+
mcardle disease
|
| 2278 |
+
mccune-albright
|
| 2279 |
+
meacham
|
| 2280 |
+
mean
|
| 2281 |
+
meconium
|
| 2282 |
+
meconium ileus in cystic
|
| 2283 |
+
mednik
|
| 2284 |
+
meesmann
|
| 2285 |
+
meesmann corneal
|
| 2286 |
+
meester-loeys
|
| 2287 |
+
megacystis-microcolon-intestinal hypoperistalsis
|
| 2288 |
+
megaloblastic
|
| 2289 |
+
meier-gorlin
|
| 2290 |
+
melanocytic
|
| 2291 |
+
melanoma-pancreatic
|
| 2292 |
+
melkersson-rosenthal
|
| 2293 |
+
melnick-needles
|
| 2294 |
+
mend
|
| 2295 |
+
menke-hennekam
|
| 2296 |
+
menton
|
| 2297 |
+
merkel
|
| 2298 |
+
merosin
|
| 2299 |
+
merosin-positive
|
| 2300 |
+
mesomelic dysplasia
|
| 2301 |
+
metacarpal 4- fusion
|
| 2302 |
+
metachromatic
|
| 2303 |
+
metatarsus adductus
|
| 2304 |
+
metatropic
|
| 2305 |
+
methionine adenosyltransferase
|
| 2306 |
+
methylmalonate semialdehyde dehydrogenase
|
| 2307 |
+
methylmalonic aciduria
|
| 2308 |
+
methylmalonic aciduria and homocysteinemia cblx
|
| 2309 |
+
methylmalonic aciduria and homocystinuria
|
| 2310 |
+
methylmalonic aciduria and homocystinuria cbld
|
| 2311 |
+
mevalonic aciduria
|
| 2312 |
+
microcephalic osteodysplastic
|
| 2313 |
+
microcephaly
|
| 2314 |
+
microcephaly-micromelia
|
| 2315 |
+
microcoria
|
| 2316 |
+
micrognathie
|
| 2317 |
+
microsope
|
| 2318 |
+
microtia with nasolacrimal duct imperforation
|
| 2319 |
+
midface hypoplasia
|
| 2320 |
+
miller
|
| 2321 |
+
miller-dieker lissencephaly
|
| 2322 |
+
mineralocorticoid
|
| 2323 |
+
minicore myopathy with external
|
| 2324 |
+
missouri
|
| 2325 |
+
mitchell
|
| 2326 |
+
mitchell-riley
|
| 2327 |
+
moebius
|
| 2328 |
+
mohr-tranebjaerg
|
| 2329 |
+
molybdenum cofactor deficiency
|
| 2330 |
+
molybdenum cofactor deficiency b
|
| 2331 |
+
molybdenum cofactor deficiency c
|
| 2332 |
+
monocarboxylate
|
| 2333 |
+
monochromatisme
|
| 2334 |
+
morgagni-stewart-morel
|
| 2335 |
+
mowat-wilson
|
| 2336 |
+
mucoepithelial
|
| 2337 |
+
mucopolysaccharidosis
|
| 2338 |
+
mucopolysaccharidosis ih/s
|
| 2339 |
+
mucopolysaccharidosis ii
|
| 2340 |
+
mucopolysaccharidosis is
|
| 2341 |
+
mucopolysaccharidosis iva
|
| 2342 |
+
mucopolysaccharidosis vii
|
| 2343 |
+
muir-torre
|
| 2344 |
+
mulchandani-bhoj-conlin
|
| 2345 |
+
mullerian duct
|
| 2346 |
+
multicentric carpotarsal osteolysis
|
| 2347 |
+
multicentric osteolysis
|
| 2348 |
+
multinucleated
|
| 2349 |
+
multivitamin transporter
|
| 2350 |
+
mungan
|
| 2351 |
+
murk jansen
|
| 2352 |
+
musculocontractural
|
| 2353 |
+
musculoskeletal defects
|
| 2354 |
+
myasthenia gravis with thymus hyperplasia
|
| 2355 |
+
myasthenic
|
| 2356 |
+
myeloperoxidase deficiency
|
| 2357 |
+
myoclonic 2a
|
| 2358 |
+
myoclonic-atonic
|
| 2359 |
+
myoectodermal gonadal dysgenesis
|
| 2360 |
+
myofibrillar myopathy
|
| 2361 |
+
myogenic
|
| 2362 |
+
myokymies faciales
|
| 2363 |
+
myopathy
|
| 2364 |
+
myopathy with
|
| 2365 |
+
myopathy with early-onset paget disease with or without frontotemporal
|
| 2366 |
+
myopathy with early-onset paget disease without frontotemporal
|
| 2367 |
+
myopathy with fiber-type
|
| 2368 |
+
myopathy with lactic
|
| 2369 |
+
myopathy with lactic acidosis hereditary
|
| 2370 |
+
myopathy with myalgia
|
| 2371 |
+
myopia
|
| 2372 |
+
myopia-
|
| 2373 |
+
myopic
|
| 2374 |
+
myosin
|
| 2375 |
+
myotonia
|
| 2376 |
+
myotonia congenita
|
| 2377 |
+
myotonia congenita atypical
|
| 2378 |
+
myotonic
|
| 2379 |
+
myxoedème
|
| 2380 |
+
myxoid liposarcoma
|
| 2381 |
+
myélodysplasie hypoplasique
|
| 2382 |
+
méga-uretère
|
| 2383 |
+
mélanocytose
|
| 2384 |
+
métacarpien
|
| 2385 |
+
métacarpiens courts
|
| 2386 |
+
métaphyse tibiale
|
| 2387 |
+
métaphyse ulnaire
|
| 2388 |
+
métaphyses humérales
|
| 2389 |
+
n18
|
| 2390 |
+
nabais
|
| 2391 |
+
nablus mask-like facial
|
| 2392 |
+
nail-patella
|
| 2393 |
+
nanophthalmos
|
| 2394 |
+
nanophthalmos-
|
| 2395 |
+
narines antéversées
|
| 2396 |
+
narines hypoplasiques
|
| 2397 |
+
naxos disease
|
| 2398 |
+
nemaline myopathy
|
| 2399 |
+
neonatal
|
| 2400 |
+
neonatal severe
|
| 2401 |
+
nephropathy
|
| 2402 |
+
nestor-guillermo progeria
|
| 2403 |
+
neu-laxova
|
| 2404 |
+
neuroblastoma with hirschsprung
|
| 2405 |
+
neurocardiofaciodigital
|
| 2406 |
+
neurocognitive phenotype
|
| 2407 |
+
neurocutaneous melanosis
|
| 2408 |
+
neurodevelopmental
|
| 2409 |
+
neurodevelopmental delay
|
| 2410 |
+
neurodevelopmental-craniofacial
|
| 2411 |
+
neurofibromatosis-noonan
|
| 2412 |
+
neurogenic
|
| 2413 |
+
neurologic
|
| 2414 |
+
neurooculocardiogenitourinary
|
| 2415 |
+
neurosensoriel congénital
|
| 2416 |
+
neutrophilic dermatosis
|
| 2417 |
+
nevi flammei
|
| 2418 |
+
newfoundland rod-cone
|
| 2419 |
+
nicolaides-baraitser
|
| 2420 |
+
nijmegen breakage
|
| 2421 |
+
nivelon-nivelon-mabille
|
| 2422 |
+
nizon-isidor
|
| 2423 |
+
nonaka
|
| 2424 |
+
nonerythroid
|
| 2425 |
+
nongoitrous
|
| 2426 |
+
nonimmune chronic
|
| 2427 |
+
noninsulin-dependent
|
| 2428 |
+
noninsulin-dependent late
|
| 2429 |
+
nonspecific
|
| 2430 |
+
noonan
|
| 2431 |
+
nor polyagglutination
|
| 2432 |
+
norman-roberts
|
| 2433 |
+
north carolina
|
| 2434 |
+
northern epilepsy
|
| 2435 |
+
nystagmus
|
| 2436 |
+
nævus simplex
|
| 2437 |
+
néphrolithiase oxalique
|
| 2438 |
+
néphrolithiase oxalo-calcique
|
| 2439 |
+
néphrolithiase oxalocalcique
|
| 2440 |
+
néphronophthise juvénile
|
| 2441 |
+
occiput
|
| 2442 |
+
ocular
|
| 2443 |
+
oculocutaneous
|
| 2444 |
+
oculogastrointestinal neurodevelopmental
|
| 2445 |
+
oculomotor apraxia
|
| 2446 |
+
odontochondrodysplasia
|
| 2447 |
+
of pregnancy
|
| 2448 |
+
ogden
|
| 2449 |
+
oguchi
|
| 2450 |
+
ohdo
|
| 2451 |
+
okt4 epitope
|
| 2452 |
+
okur-chung neurodevelopmental
|
| 2453 |
+
oligodontia-colorectal cancer
|
| 2454 |
+
oliver-mcfarlane
|
| 2455 |
+
olmsted
|
| 2456 |
+
omphalocele
|
| 2457 |
+
onychodysplasie
|
| 2458 |
+
opitz-kaveggia
|
| 2459 |
+
ornithine transcarbamylase deficiency
|
| 2460 |
+
orofaciodigital
|
| 2461 |
+
osteogenesis
|
| 2462 |
+
osteoglophonic
|
| 2463 |
+
osteosclerotic metaphyseal
|
| 2464 |
+
otopalatodigital
|
| 2465 |
+
otospondylomegaepiphyseal
|
| 2466 |
+
ovarian
|
| 2467 |
+
ovarian carcinoma
|
| 2468 |
+
ovarian dysgenesis
|
| 2469 |
+
oxoglutarate dehydrogenase
|
| 2470 |
+
oxycéphalie
|
| 2471 |
+
p1pk
|
| 2472 |
+
pachyonychia congenita
|
| 2473 |
+
paganini-miozzo
|
| 2474 |
+
palais haut
|
| 2475 |
+
palais hypoplasique
|
| 2476 |
+
pallister-hall
|
| 2477 |
+
pallister-hall-like
|
| 2478 |
+
palmo-plantaire
|
| 2479 |
+
palmoplantar
|
| 2480 |
+
palmoplantar hyperkeratosis
|
| 2481 |
+
palmoplantar hyperkeratosis with squamous cell
|
| 2482 |
+
palmoplantar keratoderma and woolly hair
|
| 2483 |
+
palmoplantar keratoderma nagashima
|
| 2484 |
+
palmoplantar keratoderma with congenital
|
| 2485 |
+
pancreatic
|
| 2486 |
+
pancreatic agenesis
|
| 2487 |
+
pancreatic agenesis and congenital heart defects
|
| 2488 |
+
pancreatic and cerebellar
|
| 2489 |
+
pancreatic cancer
|
| 2490 |
+
pancreatic carcinoma somatic
|
| 2491 |
+
pancreatic lipase
|
| 2492 |
+
papillon-lefevre
|
| 2493 |
+
papillorenal
|
| 2494 |
+
paragangliomas
|
| 2495 |
+
paramyotonia congenita
|
| 2496 |
+
paraparésie
|
| 2497 |
+
parastremmatic dwarfism
|
| 2498 |
+
parathyroid
|
| 2499 |
+
parathyroid adenoma
|
| 2500 |
+
parathyroid adenoma with cystic
|
| 2501 |
+
parenti-mignot neurodevelopmental
|
| 2502 |
+
parietal foramina
|
| 2503 |
+
parietal foramina with cleidocranial
|
| 2504 |
+
parkinson
|
| 2505 |
+
parkinson disease
|
| 2506 |
+
parkinsonism-dystonia infantile
|
| 2507 |
+
paroxysmal extreme pain
|
| 2508 |
+
paroxysmal nocturnal hemoglobinuria
|
| 2509 |
+
paroxysmal nonkinesigenic
|
| 2510 |
+
paroxysmal nonkinesigenic dyskinesia
|
| 2511 |
+
pcwh
|
| 2512 |
+
peho
|
| 2513 |
+
pelger-huet
|
| 2514 |
+
pelger-huët
|
| 2515 |
+
pelizaeus-merzbacher
|
| 2516 |
+
pelvic organ
|
| 2517 |
+
pendred
|
| 2518 |
+
penttinen
|
| 2519 |
+
pepck deficiency
|
| 2520 |
+
perinatal lethal
|
| 2521 |
+
periodontitis
|
| 2522 |
+
peripheral
|
| 2523 |
+
peripheral arterial
|
| 2524 |
+
peripheral neuropathy with
|
| 2525 |
+
periventricular heterotopia with microcephaly
|
| 2526 |
+
periventricular nodular heterotopia
|
| 2527 |
+
perlman
|
| 2528 |
+
peroxisomal acyl-coa oxidase
|
| 2529 |
+
peroxisomal fatty acyl-coa
|
| 2530 |
+
peroxisome biogenesis
|
| 2531 |
+
peroxisome biogenesis disorder 0a
|
| 2532 |
+
peroxisome biogenesis disorder 1a
|
| 2533 |
+
peroxisome biogenesis disorder 2a
|
| 2534 |
+
peroxisome biogenesis disorder 3a
|
| 2535 |
+
peroxisome biogenesis disorder 6a
|
| 2536 |
+
peroxisome biogenesis disorder 7a
|
| 2537 |
+
perrault
|
| 2538 |
+
perry
|
| 2539 |
+
pettigrew
|
| 2540 |
+
phalanges
|
| 2541 |
+
phelan-mcdermid
|
| 2542 |
+
philtrum
|
| 2543 |
+
phosphoenolpyruvate carboxykinase
|
| 2544 |
+
phosphoglycerate dehydrogenase
|
| 2545 |
+
phosphoribosylaminoimidazole carboxylase
|
| 2546 |
+
phosphoribosylpyrophosphate synthetase superactivity
|
| 2547 |
+
phosphorylase
|
| 2548 |
+
phosphoserine aminotransferase
|
| 2549 |
+
pierpont
|
| 2550 |
+
pierre robin
|
| 2551 |
+
pierson
|
| 2552 |
+
pigmented nodular adrenocortical
|
| 2553 |
+
pigmented paravenous chorioretinal
|
| 2554 |
+
pilarowski-bjornsson
|
| 2555 |
+
pitt-hopkins
|
| 2556 |
+
pitt-hopkins like
|
| 2557 |
+
pitt-hopkins-like
|
| 2558 |
+
pituitary
|
| 2559 |
+
pituitary adenoma
|
| 2560 |
+
pituitary adenoma acth-secreting
|
| 2561 |
+
pityriasis rubra
|
| 2562 |
+
pl2f/rara
|
| 2563 |
+
placental abruption
|
| 2564 |
+
plantaris
|
| 2565 |
+
plasminogen
|
| 2566 |
+
platyspondylic skeletal
|
| 2567 |
+
pleuropulmonary
|
| 2568 |
+
pml/rara
|
| 2569 |
+
pneumopnie
|
| 2570 |
+
poikiloderma with
|
| 2571 |
+
poirier-bienvenu neurodevelopmental
|
| 2572 |
+
poly)pointe-ondes
|
| 2573 |
+
polyarthrite rhumatoïde
|
| 2574 |
+
polycystic kidney disease
|
| 2575 |
+
polycystic kidney disease infantile severe
|
| 2576 |
+
polycystic kidney disease with or without polycystic liver disease
|
| 2577 |
+
polycystic lipomembranous osteodysplasia with sclerosing
|
| 2578 |
+
polycystic liver disease
|
| 2579 |
+
polycystic liver disease with or without kidney
|
| 2580 |
+
polycystic ovary
|
| 2581 |
+
pontocerebellar
|
| 2582 |
+
pontocerebellar hypoplasia
|
| 2583 |
+
popliteal
|
| 2584 |
+
poretti-boltshauser
|
| 2585 |
+
porphyria
|
| 2586 |
+
porphyria cutanea
|
| 2587 |
+
potocki-lupski
|
| 2588 |
+
potocki-shaffer
|
| 2589 |
+
prader-willi
|
| 2590 |
+
preauricular fistulae
|
| 2591 |
+
preauricular sinus
|
| 2592 |
+
preauricular tag
|
| 2593 |
+
preaxial i
|
| 2594 |
+
pregnancy
|
| 2595 |
+
pregnancy-induced
|
| 2596 |
+
preterm premature rupture of the
|
| 2597 |
+
primary closed-angle
|
| 2598 |
+
primary sclerosing
|
| 2599 |
+
primordial dwarfism-immunodeficiency-lipodystrophy
|
| 2600 |
+
primrose
|
| 2601 |
+
progeroid
|
| 2602 |
+
progressiva
|
| 2603 |
+
prolidase deficiency
|
| 2604 |
+
proliferative vasculopathy and hydranencephaly-hydrocephaly
|
| 2605 |
+
properdin
|
| 2606 |
+
prune belly
|
| 2607 |
+
pseudoautosomal
|
| 2608 |
+
pseudofolliculitis
|
| 2609 |
+
pseudohypoaldosteronism
|
| 2610 |
+
pseudohypoparathyroidism ia
|
| 2611 |
+
pseudohypoparathyroidism ib
|
| 2612 |
+
pseudohypoparathyroidism ic
|
| 2613 |
+
pseudotumeur molluscoïde
|
| 2614 |
+
pseudovaginal perineoscrotal
|
| 2615 |
+
pseudoxanthoma
|
| 2616 |
+
pseudoxanthoma elasticum-like disorder with
|
| 2617 |
+
psoriatic
|
| 2618 |
+
pterygium colli
|
| 2619 |
+
pulmonary
|
| 2620 |
+
pulmonary alveolar microlithiasis
|
| 2621 |
+
punctal pits
|
| 2622 |
+
punctate type ia
|
| 2623 |
+
punctate type ib
|
| 2624 |
+
pyle
|
| 2625 |
+
pyloric stenosis
|
| 2626 |
+
pyloric stenosis infantile
|
| 2627 |
+
pyogenic sterile arthritis
|
| 2628 |
+
pyogènes
|
| 2629 |
+
pyridoxamine -phosphate
|
| 2630 |
+
pyridoxine-dependent
|
| 2631 |
+
pyridoxine-refractory
|
| 2632 |
+
pyruvate dehydrogenase
|
| 2633 |
+
pyruvate dehydrogenase e1-beta
|
| 2634 |
+
pyruvate dehydrogenase e2
|
| 2635 |
+
pyruvate dehydrogenase phosphatase
|
| 2636 |
+
qtl5
|
| 2637 |
+
quadriparésie
|
| 2638 |
+
r51 - céphalée
|
| 2639 |
+
r61 - hyperhidrose
|
| 2640 |
+
rabin-pappas
|
| 2641 |
+
radioulnar synostosis
|
| 2642 |
+
radioulnar synostosis with amegakaryocytic thrombocytopenia
|
| 2643 |
+
radius incurvé
|
| 2644 |
+
rafiq
|
| 2645 |
+
rahman
|
| 2646 |
+
raine
|
| 2647 |
+
rapadilino
|
| 2648 |
+
rapp-hodgkin
|
| 2649 |
+
rauch-steindl
|
| 2650 |
+
raymond
|
| 2651 |
+
recombination rate
|
| 2652 |
+
refsum
|
| 2653 |
+
renal agenesis
|
| 2654 |
+
renal and limb
|
| 2655 |
+
renal and limb defects
|
| 2656 |
+
renal-hepatic-pancreatic dysplasia
|
| 2657 |
+
renpenning
|
| 2658 |
+
respiratory insufficiency
|
| 2659 |
+
respiratory insufficiency and brain
|
| 2660 |
+
respiratory papillomatosis
|
| 2661 |
+
reticular dysgenesis
|
| 2662 |
+
retinal arterial macroaneurysm with supravalvular pulmonic stenosis
|
| 2663 |
+
retinal cone dystrophy
|
| 2664 |
+
retinal degeneration late-onset
|
| 2665 |
+
rett
|
| 2666 |
+
revesz
|
| 2667 |
+
reynolds
|
| 2668 |
+
rh-induced
|
| 2669 |
+
rh-null
|
| 2670 |
+
rhabdoid
|
| 2671 |
+
rhabdomyosarcoma
|
| 2672 |
+
riboflavin
|
| 2673 |
+
riboflavin-responsive
|
| 2674 |
+
riddle
|
| 2675 |
+
rieger
|
| 2676 |
+
ritscher-schinzel
|
| 2677 |
+
robinow
|
| 2678 |
+
robinow-sorauf
|
| 2679 |
+
roifman
|
| 2680 |
+
roifman-chitayat
|
| 2681 |
+
rosah
|
| 2682 |
+
roussy-levy
|
| 2683 |
+
rubinstein-taybi
|
| 2684 |
+
ruijs-aalfs
|
| 2685 |
+
sacral agenesis with vertebral
|
| 2686 |
+
saethre-chotzen
|
| 2687 |
+
salih myopathy
|
| 2688 |
+
salla disease
|
| 2689 |
+
salt-sensitive
|
| 2690 |
+
sandestig-stefanova
|
| 2691 |
+
sandhoff disease infantile
|
| 2692 |
+
sanfilippo
|
| 2693 |
+
saul-wilson
|
| 2694 |
+
sbbyss
|
| 2695 |
+
scapula
|
| 2696 |
+
scapulo-péronière progressive
|
| 2697 |
+
scapuloperoneal
|
| 2698 |
+
schimke immunoosseous
|
| 2699 |
+
schistosoma mansoni
|
| 2700 |
+
schmid
|
| 2701 |
+
schneckenbecken
|
| 2702 |
+
schnyder
|
| 2703 |
+
schopf-schulz-passarge
|
| 2704 |
+
schuurs-hoeijmakers
|
| 2705 |
+
scid
|
| 2706 |
+
sclerosteosis
|
| 2707 |
+
scott
|
| 2708 |
+
scrotum
|
| 2709 |
+
scurvy
|
| 2710 |
+
secretory
|
| 2711 |
+
secretory chloride
|
| 2712 |
+
sensorineural deafness
|
| 2713 |
+
sensorineural hearing
|
| 2714 |
+
sensorineural hearing loss
|
| 2715 |
+
septooptic
|
| 2716 |
+
serkal
|
| 2717 |
+
sessile serrated
|
| 2718 |
+
severe
|
| 2719 |
+
severe congenital
|
| 2720 |
+
severe cytomegalovirus
|
| 2721 |
+
shaheen
|
| 2722 |
+
sheldon-hall
|
| 2723 |
+
short stature
|
| 2724 |
+
short-rib thoracic dysplasia
|
| 2725 |
+
short-rib thoracic dysplasia with
|
| 2726 |
+
short-rib thoracic dysplasia with or
|
| 2727 |
+
short-rib thoracic dysplasia without
|
| 2728 |
+
shprintzen-goldberg
|
| 2729 |
+
shukla-vernon
|
| 2730 |
+
shwachman-diamond
|
| 2731 |
+
sick sinus
|
| 2732 |
+
siddiqi
|
| 2733 |
+
siderius
|
| 2734 |
+
silver spastic paraplegia
|
| 2735 |
+
silver-russell
|
| 2736 |
+
silverman-handmaker
|
| 2737 |
+
simha
|
| 2738 |
+
sinus pilonidal
|
| 2739 |
+
sinus préauriculaire
|
| 2740 |
+
skeletal
|
| 2741 |
+
sleepwalking type
|
| 2742 |
+
slowed
|
| 2743 |
+
smed strudwick
|
| 2744 |
+
smith-kingsmore
|
| 2745 |
+
smith-lemli-opitz
|
| 2746 |
+
smith-magenis
|
| 2747 |
+
smith-mccort
|
| 2748 |
+
sneddon
|
| 2749 |
+
snijders blok-campeau
|
| 2750 |
+
snijders blok-fisher
|
| 2751 |
+
somatic
|
| 2752 |
+
somatic mosaic
|
| 2753 |
+
sorbitol dehydrogenase deficiency with peripheral
|
| 2754 |
+
sotos
|
| 2755 |
+
sourcils
|
| 2756 |
+
spahr
|
| 2757 |
+
spastic
|
| 2758 |
+
spastic ataxia
|
| 2759 |
+
spastic paralysis
|
| 2760 |
+
spastic paraparesis
|
| 2761 |
+
spastic paraplegia
|
| 2762 |
+
spastic paraplegia and psychomotor retardation
|
| 2763 |
+
spastic quadriplegia
|
| 2764 |
+
spastic quadriplegic
|
| 2765 |
+
spastic tetraplegia
|
| 2766 |
+
spastic tetraplegia and axial hypotonia progressive
|
| 2767 |
+
specific
|
| 2768 |
+
spermatocytic seminoma
|
| 2769 |
+
spermatogenic
|
| 2770 |
+
spermatogenic failure
|
| 2771 |
+
spheroid
|
| 2772 |
+
spinocerebellar
|
| 2773 |
+
spinocerebellar ataxia
|
| 2774 |
+
spondylocostal dysostosis
|
| 2775 |
+
spondylodysplastic
|
| 2776 |
+
spondyloepimetaphyseal
|
| 2777 |
+
squalene
|
| 2778 |
+
stankiewicz-isidor
|
| 2779 |
+
stapes ankylosis with broad thumbs and toes
|
| 2780 |
+
stein-leventhal
|
| 2781 |
+
steiner
|
| 2782 |
+
stevens-johnson
|
| 2783 |
+
stevenson cutis gyrata
|
| 2784 |
+
stocco dos santos
|
| 2785 |
+
striatal
|
| 2786 |
+
striatonigral degeneration
|
| 2787 |
+
stromme
|
| 2788 |
+
sturge-weber
|
| 2789 |
+
stuve-wiedemann
|
| 2790 |
+
subcortical laminal heterotopia
|
| 2791 |
+
subcortical laminar heterotopia
|
| 2792 |
+
subependymal
|
| 2793 |
+
succinic semialdehyde dehydrogenase
|
| 2794 |
+
succinyl coa:3-oxoacid coa transferase deficiency
|
| 2795 |
+
sudden
|
| 2796 |
+
sudden cardiac
|
| 2797 |
+
suleiman-el-hattab
|
| 2798 |
+
superoxide
|
| 2799 |
+
supravalvar aortic stenosis
|
| 2800 |
+
symoens-barnes-gistelinck
|
| 2801 |
+
syndrome-
|
| 2802 |
+
synostose astragalo-calcanéenne
|
| 2803 |
+
synostose astragalocalcanéenne
|
| 2804 |
+
synostose carpienne
|
| 2805 |
+
synostose carpométacarpienne
|
| 2806 |
+
synostose huméroradiale
|
| 2807 |
+
synostose métacarpienne
|
| 2808 |
+
synostose métacarpo-phalangienne
|
| 2809 |
+
synostose métacarpophalangienne
|
| 2810 |
+
synostose métatarsienne
|
| 2811 |
+
synostose scapulo-humérale
|
| 2812 |
+
synostose talocalcanéenne
|
| 2813 |
+
synostose tarsiennne
|
| 2814 |
+
synpolydactyly
|
| 2815 |
+
synthetase deficiency
|
| 2816 |
+
t4 basse
|
| 2817 |
+
t68 - hypothermie
|
| 2818 |
+
takenouchi-kosaki
|
| 2819 |
+
tangier disease
|
| 2820 |
+
tarsal-carpal coalition
|
| 2821 |
+
tateyama
|
| 2822 |
+
tcr-alpha/beta deficient
|
| 2823 |
+
teebi hypertelorism
|
| 2824 |
+
telomere length
|
| 2825 |
+
temple-baraitser
|
| 2826 |
+
tenorio
|
| 2827 |
+
tessadori-van haaften neurodevelopmental
|
| 2828 |
+
testicular
|
| 2829 |
+
testicular anomalies with or without congenital heart disease
|
| 2830 |
+
tetra-amelia
|
| 2831 |
+
tetraamelia
|
| 2832 |
+
tetrasomy 8p
|
| 2833 |
+
thauvin-robinet-faivre
|
| 2834 |
+
thiel-behnke
|
| 2835 |
+
thrombocythemia
|
| 2836 |
+
thrombocytopenia with
|
| 2837 |
+
thrombophilia
|
| 2838 |
+
thrombotic thrombocytopenic
|
| 2839 |
+
thyrotoxic periodic paralysis
|
| 2840 |
+
tietz albinism-deafness
|
| 2841 |
+
timothy
|
| 2842 |
+
to antithrombin pittsburgh
|
| 2843 |
+
tolbutamide poor metabolizer
|
| 2844 |
+
torrance
|
| 2845 |
+
townes-brocks
|
| 2846 |
+
townes-brocks branchiootorenal-like
|
| 2847 |
+
transcobalamin ii
|
| 2848 |
+
treacher collins
|
| 2849 |
+
treacher-collins
|
| 2850 |
+
trehalase
|
| 2851 |
+
trichiase
|
| 2852 |
+
trichilemmal cyst
|
| 2853 |
+
trichothiodystrophy
|
| 2854 |
+
troyer
|
| 2855 |
+
tsc2 angiomyolipomas
|
| 2856 |
+
tuberculosis
|
| 2857 |
+
turner
|
| 2858 |
+
tylosis with esophageal
|
| 2859 |
+
ullrich congenital
|
| 2860 |
+
uncombable hair
|
| 2861 |
+
uretère double
|
| 2862 |
+
uric
|
| 2863 |
+
uridine-cytidineuria]
|
| 2864 |
+
urocanase deficiency
|
| 2865 |
+
uruguay
|
| 2866 |
+
usher
|
| 2867 |
+
usmani-riazuddin
|
| 2868 |
+
valve mitrale
|
| 2869 |
+
valve pulmonaire
|
| 2870 |
+
van
|
| 2871 |
+
van buchem
|
| 2872 |
+
van buchem disease
|
| 2873 |
+
van den ende-gupta
|
| 2874 |
+
van der Woude
|
| 2875 |
+
van der woude
|
| 2876 |
+
van esch-odriscoll
|
| 2877 |
+
van maldergem
|
| 2878 |
+
vascular
|
| 2879 |
+
vascular disease
|
| 2880 |
+
vasculite
|
| 2881 |
+
vasovagal
|
| 2882 |
+
velocardiofacial
|
| 2883 |
+
venous
|
| 2884 |
+
ventricular
|
| 2885 |
+
ventricular arrhythmias
|
| 2886 |
+
ventricular septal defect
|
| 2887 |
+
ventriculomegaly with cystic kidney disease
|
| 2888 |
+
verheij
|
| 2889 |
+
vertebral
|
| 2890 |
+
vesicoureteral
|
| 2891 |
+
vessie neurogène
|
| 2892 |
+
vestibulo-oculaire anormal
|
| 2893 |
+
vestibulocerebellar disorder with predominant ocular signs
|
| 2894 |
+
vexas
|
| 2895 |
+
vibratory
|
| 2896 |
+
visceral
|
| 2897 |
+
visceral myopathy
|
| 2898 |
+
vissers-bodmer
|
| 2899 |
+
vitreoretinopathy with phalangeal epiphyseal
|
| 2900 |
+
vlcad
|
| 2901 |
+
von
|
| 2902 |
+
von Hippel-Lindau
|
| 2903 |
+
von hippel-lindau
|
| 2904 |
+
vries
|
| 2905 |
+
vulto-van silfout-de vries
|
| 2906 |
+
vésico-urétéral
|
| 2907 |
+
vésico-urétéro-rénal
|
| 2908 |
+
waardenburg
|
| 2909 |
+
wagner
|
| 2910 |
+
waisman
|
| 2911 |
+
warfarin
|
| 2912 |
+
warsaw breakage
|
| 2913 |
+
watson
|
| 2914 |
+
weaver
|
| 2915 |
+
weiss-kruszka
|
| 2916 |
+
welander
|
| 2917 |
+
werner
|
| 2918 |
+
white sponge
|
| 2919 |
+
white-kernohan
|
| 2920 |
+
white-sutton
|
| 2921 |
+
willebrand
|
| 2922 |
+
williams-beuren
|
| 2923 |
+
wilson disease
|
| 2924 |
+
wilson-turner
|
| 2925 |
+
winchester
|
| 2926 |
+
wiskott-aldrich
|
| 2927 |
+
with
|
| 2928 |
+
with 6xy sex
|
| 2929 |
+
with abnormal
|
| 2930 |
+
with acanthosis
|
| 2931 |
+
with amelogenesis
|
| 2932 |
+
with ataxia
|
| 2933 |
+
with atrichia and photophobia
|
| 2934 |
+
with autoimmunity
|
| 2935 |
+
with bartter
|
| 2936 |
+
with brachydactyly
|
| 2937 |
+
with cerebellar
|
| 2938 |
+
with cerebellar hypoplasia and cortical
|
| 2939 |
+
with cerebral leukoencephalopathy and systemic manifestations
|
| 2940 |
+
with chromosomal instability somatic
|
| 2941 |
+
with cochlear aplasia
|
| 2942 |
+
with congenital
|
| 2943 |
+
with congenital cataract and developmental
|
| 2944 |
+
with deafness
|
| 2945 |
+
with developmental
|
| 2946 |
+
with episodic
|
| 2947 |
+
with gingival hyperplasia
|
| 2948 |
+
with heterotaxy
|
| 2949 |
+
with hypercalciuric
|
| 2950 |
+
with hyperglycinemia
|
| 2951 |
+
with hypertrophic
|
| 2952 |
+
with hypomyelinating
|
| 2953 |
+
with impaired intellectual
|
| 2954 |
+
with impaired proprioception and touch
|
| 2955 |
+
with impaired pupillary
|
| 2956 |
+
with juvenile macular
|
| 2957 |
+
with limb
|
| 2958 |
+
with male infertility
|
| 2959 |
+
with microcephaly
|
| 2960 |
+
with microcornea
|
| 2961 |
+
with microvillus
|
| 2962 |
+
with migratory circinate
|
| 2963 |
+
with minicore
|
| 2964 |
+
with multisystem
|
| 2965 |
+
with myopathy and facial
|
| 2966 |
+
with neonatal respiratory
|
| 2967 |
+
with neurodevelopmental
|
| 2968 |
+
with neuropsychiatric features and
|
| 2969 |
+
with neuroserpin
|
| 2970 |
+
with oculomotor apraxia and hypoalbuminemia
|
| 2971 |
+
with palmoplantar
|
| 2972 |
+
with paroxysmal
|
| 2973 |
+
with peripheral neuropathy
|
| 2974 |
+
with pyloric
|
| 2975 |
+
with pyloric atresia
|
| 2976 |
+
with respiratory insufficiency and bone
|
| 2977 |
+
with skeletal
|
| 2978 |
+
with spastic
|
| 2979 |
+
with spasticity and tapetoretinal degeneration
|
| 2980 |
+
with subcortical infarcts and
|
| 2981 |
+
with tufting enteropathy congenital
|
| 2982 |
+
with woolly hair and
|
| 2983 |
+
witkop
|
| 2984 |
+
witteveen-kolk
|
| 2985 |
+
wolcott-rallison
|
| 2986 |
+
wolman disease
|
| 2987 |
+
x-linked
|
| 2988 |
+
xeroderma
|
| 2989 |
+
xia-gibbs
|
| 2990 |
+
xv
|
| 2991 |
+
yoon-bellen neurodevelopmental
|
| 2992 |
+
yuan-harel-lupski
|
| 2993 |
+
yunis-varon
|
| 2994 |
+
zimmermann-laband
|
| 2995 |
+
zollinger-ellison
|
| 2996 |
+
épiphysite vertébrale
|
| 2997 |
+
épithélioma baso-cellulaire
|
| 2998 |
+
état
|
data/hp_fr_en_translated_marian_review_lwg.json
ADDED
|
The diff for this file is too large to render.
See raw diff
|
|
|
img/CHU-montpellier.png
ADDED
|
img/logo.png
ADDED
|
img/logosfacmontpellier.png
ADDED
|
lf_app.py
ADDED
|
@@ -0,0 +1,664 @@
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|
| 1 |
+
from __future__ import annotations # For Python 3.7
|
| 2 |
+
import streamlit as st
|
| 3 |
+
from PIL import Image
|
| 4 |
+
import pandas as pd
|
| 5 |
+
import re
|
| 6 |
+
import json
|
| 7 |
+
import nltk
|
| 8 |
+
import stanza
|
| 9 |
+
from dataclasses import dataclass
|
| 10 |
+
from typing import List
|
| 11 |
+
import transformers
|
| 12 |
+
from typing import Sequence
|
| 13 |
+
import spacy
|
| 14 |
+
from presidio_analyzer import AnalyzerEngine, RecognizerRegistry
|
| 15 |
+
from presidio_analyzer.nlp_engine import NlpEngineProvider
|
| 16 |
+
from presidio_anonymizer import AnonymizerEngine
|
| 17 |
+
from presidio_anonymizer.entities import RecognizerResult, OperatorConfig
|
| 18 |
+
import subprocess
|
| 19 |
+
|
| 20 |
+
# -- Set page config
|
| 21 |
+
apptitle = "Linguo Franca"
|
| 22 |
+
|
| 23 |
+
st.set_page_config(page_title=apptitle, page_icon=":incoming_envelope:", layout="wide")
|
| 24 |
+
|
| 25 |
+
# -- Set Sidebar
|
| 26 |
+
image_pg = Image.open("img/logo_300x.png")
|
| 27 |
+
st.sidebar.image(image_pg, caption=None, width=200)
|
| 28 |
+
st.sidebar.title("Linguo Franca")
|
| 29 |
+
|
| 30 |
+
st.sidebar.header(
|
| 31 |
+
"Share medical consultation letter automatically translated, de-identified and summarized using deep learning"
|
| 32 |
+
)
|
| 33 |
+
|
| 34 |
+
st.sidebar.markdown(
|
| 35 |
+
"""
|
| 36 |
+
If any questions or suggestions, please contact: [kevin.yauy@chu-montpellier.fr](kevin.yauy@chu-montpellier.fr) and [lucas.gauthier@chu-lyon.fr](lucas.gauthier@chu-lyon.fr)
|
| 37 |
+
|
| 38 |
+
Code source is available in GitHub:
|
| 39 |
+
[https://github.com/kyauy/Linguo-Franca](https://github.com/kyauy/Linguo-Franca)
|
| 40 |
+
|
| 41 |
+
Linguo Franca is an initiative from:
|
| 42 |
+
"""
|
| 43 |
+
)
|
| 44 |
+
image_univ = Image.open("img/logosfacmontpellier.png")
|
| 45 |
+
st.sidebar.image(image_univ, caption=None, width=190)
|
| 46 |
+
|
| 47 |
+
image_chu = Image.open("img/CHU-montpellier.png")
|
| 48 |
+
st.sidebar.image(image_chu, caption=None, width=95)
|
| 49 |
+
|
| 50 |
+
|
| 51 |
+
@st.cache_resource()
|
| 52 |
+
def get_models():
|
| 53 |
+
nltk.download("omw-1.4")
|
| 54 |
+
stanza.download("fr")
|
| 55 |
+
spacy_model_name = "en_core_web_lg"
|
| 56 |
+
if not spacy.util.is_package(spacy_model_name):
|
| 57 |
+
spacy.cli.download(spacy_model_name)
|
| 58 |
+
else:
|
| 59 |
+
print(spacy_model_name + " already downloaded")
|
| 60 |
+
return "Done"
|
| 61 |
+
|
| 62 |
+
|
| 63 |
+
@st.cache_data()
|
| 64 |
+
def get_list_not_deidentify():
|
| 65 |
+
nom_propre_data = pd.read_csv(
|
| 66 |
+
"data/exception_list_anonymization.tsv", sep="\t", header=None
|
| 67 |
+
)
|
| 68 |
+
nom_propre_list = nom_propre_data[0].to_list() + [
|
| 69 |
+
"PN",
|
| 70 |
+
"TN",
|
| 71 |
+
"SD",
|
| 72 |
+
"PCN",
|
| 73 |
+
"cher",
|
| 74 |
+
"chere",
|
| 75 |
+
"CAS",
|
| 76 |
+
"INDEX",
|
| 77 |
+
]
|
| 78 |
+
nom_propre = [x.lower() for x in nom_propre_list]
|
| 79 |
+
return nom_propre
|
| 80 |
+
|
| 81 |
+
|
| 82 |
+
@st.cache_resource()
|
| 83 |
+
def config_deidentify():
|
| 84 |
+
configuration = {
|
| 85 |
+
"nlp_engine_name": "spacy",
|
| 86 |
+
"models": [{"lang_code": "en", "model_name": "en_core_web_lg"}],
|
| 87 |
+
}
|
| 88 |
+
|
| 89 |
+
# Create NLP engine based on configuration
|
| 90 |
+
provider = NlpEngineProvider(nlp_configuration=configuration)
|
| 91 |
+
nlp_engine = provider.create_engine()
|
| 92 |
+
|
| 93 |
+
analyzer = AnalyzerEngine(nlp_engine=nlp_engine, supported_languages=["en"])
|
| 94 |
+
engine = AnonymizerEngine()
|
| 95 |
+
return analyzer, engine
|
| 96 |
+
|
| 97 |
+
|
| 98 |
+
@st.cache_resource()
|
| 99 |
+
def get_nlp_marian():
|
| 100 |
+
nlp = stanza.Pipeline("fr", processors="tokenize")
|
| 101 |
+
marian_fr_en = Translator("fr", "en")
|
| 102 |
+
return nlp, marian_fr_en
|
| 103 |
+
|
| 104 |
+
|
| 105 |
+
@dataclass(frozen=True)
|
| 106 |
+
class SentenceBoundary:
|
| 107 |
+
text: str
|
| 108 |
+
prefix: str
|
| 109 |
+
|
| 110 |
+
def __str__(self):
|
| 111 |
+
return self.prefix + self.text
|
| 112 |
+
|
| 113 |
+
|
| 114 |
+
@dataclass(frozen=True)
|
| 115 |
+
class SentenceBoundaries:
|
| 116 |
+
sentence_boundaries: List[SentenceBoundary]
|
| 117 |
+
|
| 118 |
+
@classmethod
|
| 119 |
+
def from_doc(cls, doc: stanza.Document) -> SentenceBoundaries:
|
| 120 |
+
sentence_boundaries = []
|
| 121 |
+
start_idx = 0
|
| 122 |
+
for sent in doc.sentences:
|
| 123 |
+
sentence_boundaries.append(
|
| 124 |
+
SentenceBoundary(
|
| 125 |
+
text=sent.text,
|
| 126 |
+
prefix=doc.text[start_idx : sent.tokens[0].start_char],
|
| 127 |
+
)
|
| 128 |
+
)
|
| 129 |
+
start_idx = sent.tokens[-1].end_char
|
| 130 |
+
sentence_boundaries.append(
|
| 131 |
+
SentenceBoundary(text="", prefix=doc.text[start_idx:])
|
| 132 |
+
)
|
| 133 |
+
return cls(sentence_boundaries)
|
| 134 |
+
|
| 135 |
+
@property
|
| 136 |
+
def nonempty_sentences(self) -> List[str]:
|
| 137 |
+
return [item.text for item in self.sentence_boundaries if item.text]
|
| 138 |
+
|
| 139 |
+
def map(self, d: dict[str, str]) -> SentenceBoundaries:
|
| 140 |
+
return SentenceBoundaries(
|
| 141 |
+
[
|
| 142 |
+
SentenceBoundary(text=d.get(sb.text, sb.text), prefix=sb.prefix)
|
| 143 |
+
for sb in self.sentence_boundaries
|
| 144 |
+
]
|
| 145 |
+
)
|
| 146 |
+
|
| 147 |
+
def __str__(self) -> str:
|
| 148 |
+
return "".join(map(str, self.sentence_boundaries))
|
| 149 |
+
|
| 150 |
+
|
| 151 |
+
def minibatch(seq, size):
|
| 152 |
+
items = []
|
| 153 |
+
for x in seq:
|
| 154 |
+
items.append(x)
|
| 155 |
+
if len(items) >= size:
|
| 156 |
+
yield items
|
| 157 |
+
items = []
|
| 158 |
+
if items:
|
| 159 |
+
yield items
|
| 160 |
+
|
| 161 |
+
|
| 162 |
+
# @dataclass(frozen=True)
|
| 163 |
+
class Translator:
|
| 164 |
+
def __init__(self, source_lang: str, dest_lang: str, use_gpu: bool = False) -> None:
|
| 165 |
+
# self.use_gpu = use_gpu
|
| 166 |
+
self.model_name = "Helsinki-NLP/opus-mt-" + source_lang + "-" + dest_lang
|
| 167 |
+
self.model = transformers.MarianMTModel.from_pretrained(self.model_name)
|
| 168 |
+
# if use_gpu:
|
| 169 |
+
# self.model = self.model.cuda()
|
| 170 |
+
self.tokenizer = transformers.MarianTokenizer.from_pretrained(self.model_name)
|
| 171 |
+
self.sentencizer = stanza.Pipeline(
|
| 172 |
+
source_lang, processors="tokenize", verbose=False, use_gpu=use_gpu
|
| 173 |
+
)
|
| 174 |
+
|
| 175 |
+
def sentencize(self, texts: Sequence[str]) -> List[SentenceBoundaries]:
|
| 176 |
+
return [
|
| 177 |
+
SentenceBoundaries.from_doc(self.sentencizer.process(text))
|
| 178 |
+
for text in texts
|
| 179 |
+
]
|
| 180 |
+
|
| 181 |
+
def translate(
|
| 182 |
+
self, texts: Sequence[str], batch_size: int = 10, truncation=True
|
| 183 |
+
) -> Sequence[str]:
|
| 184 |
+
if isinstance(texts, str):
|
| 185 |
+
raise ValueError("Expected a sequence of texts")
|
| 186 |
+
text_sentences = self.sentencize(texts)
|
| 187 |
+
translations = {
|
| 188 |
+
sent: None for text in text_sentences for sent in text.nonempty_sentences
|
| 189 |
+
}
|
| 190 |
+
|
| 191 |
+
for text_batch in minibatch(
|
| 192 |
+
sorted(translations, key=len, reverse=True), batch_size
|
| 193 |
+
):
|
| 194 |
+
tokens = self.tokenizer(
|
| 195 |
+
text_batch, return_tensors="pt", padding=True, truncation=truncation
|
| 196 |
+
)
|
| 197 |
+
# if self.use_gpu:
|
| 198 |
+
# tokens = {k:v.cuda() for k, v in tokens.items()}
|
| 199 |
+
translate_tokens = self.model.generate(**tokens)
|
| 200 |
+
translate_batch = [
|
| 201 |
+
self.tokenizer.decode(t, skip_special_tokens=True)
|
| 202 |
+
for t in translate_tokens
|
| 203 |
+
]
|
| 204 |
+
for (text, translated) in zip(text_batch, translate_batch):
|
| 205 |
+
translations[text] = translated
|
| 206 |
+
|
| 207 |
+
return [str(text.map(translations)) for text in text_sentences]
|
| 208 |
+
|
| 209 |
+
|
| 210 |
+
@st.cache_data()
|
| 211 |
+
def anonymize_analyzer(MarianText_letter, _analyzer, nom_propre):
|
| 212 |
+
MarianText_anonymize_letter = MarianText_letter
|
| 213 |
+
# st.write(MarianText_anonymize_letter)
|
| 214 |
+
analyzer_results_keep = []
|
| 215 |
+
analyzer_results_return = []
|
| 216 |
+
analyzer_results_saved = []
|
| 217 |
+
analyzer_results = _analyzer.analyze(text=MarianText_letter, language="en")
|
| 218 |
+
len_to_add = 0
|
| 219 |
+
analyser_results_to_sort = {}
|
| 220 |
+
i = 0
|
| 221 |
+
for element in analyzer_results:
|
| 222 |
+
analyser_results_to_sort[i] = element.start
|
| 223 |
+
i = i + 1
|
| 224 |
+
sorted_tuples = sorted(analyser_results_to_sort.items(), key=lambda x: x[1])
|
| 225 |
+
sorted_dict = {k: v for k, v in sorted_tuples}
|
| 226 |
+
# st.write(sorted_dict)
|
| 227 |
+
|
| 228 |
+
for element_raw in sorted_dict:
|
| 229 |
+
element = analyzer_results[element_raw]
|
| 230 |
+
word = MarianText_letter[element.start : element.end]
|
| 231 |
+
if word.lower().strip() in nom_propre:
|
| 232 |
+
word_to_replace = "**:green[" + word + "]** `[" + element.entity_type + "]`"
|
| 233 |
+
MarianText_anonymize_letter = (
|
| 234 |
+
MarianText_anonymize_letter[: element.start + len_to_add]
|
| 235 |
+
+ word_to_replace
|
| 236 |
+
+ MarianText_anonymize_letter[element.end + len_to_add :]
|
| 237 |
+
)
|
| 238 |
+
analyzer_results_saved.append(str(element) + ", word:" + word)
|
| 239 |
+
else:
|
| 240 |
+
word_to_replace = "**:red[" + word + "]** `[" + element.entity_type + "]`"
|
| 241 |
+
MarianText_anonymize_letter = (
|
| 242 |
+
MarianText_anonymize_letter[: element.start + len_to_add]
|
| 243 |
+
+ word_to_replace
|
| 244 |
+
+ MarianText_anonymize_letter[element.end + len_to_add :]
|
| 245 |
+
)
|
| 246 |
+
analyzer_results_keep.append(str(element) + ", word:" + word)
|
| 247 |
+
analyzer_results_return.append(element)
|
| 248 |
+
len_to_add = len_to_add + len(word_to_replace) - len(word)
|
| 249 |
+
|
| 250 |
+
return (
|
| 251 |
+
MarianText_anonymize_letter,
|
| 252 |
+
analyzer_results_return,
|
| 253 |
+
analyzer_results_keep,
|
| 254 |
+
analyzer_results_saved,
|
| 255 |
+
)
|
| 256 |
+
|
| 257 |
+
|
| 258 |
+
@st.cache_data()
|
| 259 |
+
def anonymize_engine(MarianText_letter, _analyzer_results_return, _engine):
|
| 260 |
+
result = _engine.anonymize(
|
| 261 |
+
text=MarianText_letter,
|
| 262 |
+
analyzer_results=_analyzer_results_return,
|
| 263 |
+
operators={
|
| 264 |
+
"PERSON": OperatorConfig("replace", {"new_value": ""}),
|
| 265 |
+
"LOCATION": OperatorConfig("replace", {"new_value": ""}),
|
| 266 |
+
},
|
| 267 |
+
)
|
| 268 |
+
return reformat_to_letter(result.text, nlp)
|
| 269 |
+
|
| 270 |
+
|
| 271 |
+
@st.cache_data()
|
| 272 |
+
def add_space_to_comma(texte):
|
| 273 |
+
text_list = []
|
| 274 |
+
regex = "(?<!\d)(\,)(?!\d)(?!.*\1)"
|
| 275 |
+
for sentence in nlp.process(texte).sentences:
|
| 276 |
+
text_space = re.sub(regex, " , ", sentence.text.replace("\n", " "))
|
| 277 |
+
text_space_no_db = text_space.replace(" ", " ")
|
| 278 |
+
text_list.append(text_space_no_db)
|
| 279 |
+
# print(text_space_no_db)
|
| 280 |
+
return " ".join(text_list)
|
| 281 |
+
|
| 282 |
+
|
| 283 |
+
@st.cache_data()
|
| 284 |
+
def add_space_to_endpoint(texte):
|
| 285 |
+
text_list = []
|
| 286 |
+
regex = "(?<!\d)(\.)(?!\d)(?!.*\1)"
|
| 287 |
+
for sentence in nlp.process(texte).sentences:
|
| 288 |
+
text_space = re.sub(regex, " . ", sentence.text.replace("\n", " "))
|
| 289 |
+
text_space_no_db = text_space.replace(" ", " ")
|
| 290 |
+
text_list.append(text_space_no_db)
|
| 291 |
+
# print(text_space_no_db)
|
| 292 |
+
return " ".join(text_list)
|
| 293 |
+
|
| 294 |
+
|
| 295 |
+
@st.cache_data()
|
| 296 |
+
def add_space_to_leftp(texte):
|
| 297 |
+
text_list = []
|
| 298 |
+
regex = "(?<!\d)(\()(?!\d)(?!.*\1)"
|
| 299 |
+
for sentence in nlp.process(texte).sentences:
|
| 300 |
+
text_space = re.sub(regex, " ( ", sentence.text.replace("\n", " "))
|
| 301 |
+
text_space_no_db = text_space.replace(" ", " ")
|
| 302 |
+
text_list.append(text_space_no_db)
|
| 303 |
+
# print(text_space_no_db)
|
| 304 |
+
return " ".join(text_list)
|
| 305 |
+
|
| 306 |
+
|
| 307 |
+
@st.cache_data()
|
| 308 |
+
def add_space_to_rightp(texte):
|
| 309 |
+
text_list = []
|
| 310 |
+
regex = "(?<!\d)(\))(?!\d)(?!.*\1)"
|
| 311 |
+
for sentence in nlp.process(texte).sentences:
|
| 312 |
+
text_space = re.sub(regex, " ) ", sentence.text.replace("\n", " "))
|
| 313 |
+
text_space_no_db = text_space.replace(" ", " ")
|
| 314 |
+
text_list.append(text_space_no_db)
|
| 315 |
+
# print(text_space_no_db)
|
| 316 |
+
return " ".join(text_list)
|
| 317 |
+
|
| 318 |
+
|
| 319 |
+
@st.cache_data()
|
| 320 |
+
def add_space_to_stroph(texte):
|
| 321 |
+
text_list = []
|
| 322 |
+
regex = "(?<!\d)(')(?!\d)(?!.*\1)"
|
| 323 |
+
for sentence in nlp.process(texte).sentences:
|
| 324 |
+
text_space = re.sub(regex, " ' ", sentence.text.replace("\n", " "))
|
| 325 |
+
text_space_no_db = text_space.replace(" ", " ")
|
| 326 |
+
text_list.append(text_space_no_db)
|
| 327 |
+
# print(text_space_no_db)
|
| 328 |
+
return " ".join(text_list)
|
| 329 |
+
|
| 330 |
+
|
| 331 |
+
@st.cache_data()
|
| 332 |
+
def add_space_to_comma_endpoint(texte):
|
| 333 |
+
text_fr_comma = add_space_to_comma(texte)
|
| 334 |
+
text_fr_comma_endpoint = add_space_to_endpoint(text_fr_comma)
|
| 335 |
+
text_fr_comma_endpoint_leftpc = add_space_to_leftp(text_fr_comma_endpoint)
|
| 336 |
+
text_fr_comma_endpoint_leftpc_right_pc = add_space_to_rightp(
|
| 337 |
+
text_fr_comma_endpoint_leftpc
|
| 338 |
+
)
|
| 339 |
+
# text_fr_comma_endpoint_leftpc_right_pc_stroph = add_space_to_stroph(
|
| 340 |
+
# text_fr_comma_endpoint_leftpc_right_pc
|
| 341 |
+
# )
|
| 342 |
+
return text_fr_comma_endpoint_leftpc_right_pc
|
| 343 |
+
|
| 344 |
+
|
| 345 |
+
@st.cache_data()
|
| 346 |
+
def get_translation_dict_correction():
|
| 347 |
+
dict_correction_FRspec = {
|
| 348 |
+
"PC": "head circumference",
|
| 349 |
+
"CP": "head circumference",
|
| 350 |
+
"palatine slot": "cleft palate",
|
| 351 |
+
"TSA": "autism",
|
| 352 |
+
"ASD": "autism",
|
| 353 |
+
"TDAH": "attention deficit hyperactivity disorder",
|
| 354 |
+
"ADHD": "attention deficit hyperactivity disorder",
|
| 355 |
+
"IME": " medical-educational institute for his intellectual disability",
|
| 356 |
+
"EMI": " medical-educational institute for his intellectual disability",
|
| 357 |
+
"CAMSP": "medical and social center for his mild global developmental delay",
|
| 358 |
+
"SESSAD": "specific education services for his mild global developmental delay",
|
| 359 |
+
"ESAT": "establishment and service of help by work for his mild global developmental delay",
|
| 360 |
+
"RDPM": "global developmental delay",
|
| 361 |
+
"IUGR": "intrauterin growth retardation",
|
| 362 |
+
"RCIU": "intrauterin growth retardation",
|
| 363 |
+
"CRIU": "intrauterin growth retardation",
|
| 364 |
+
"QI": "IQ ",
|
| 365 |
+
"QIT": "FSIQ ",
|
| 366 |
+
"ITQ": "FSIQ ",
|
| 367 |
+
"DS": "SD",
|
| 368 |
+
"FOP": "patent foramen ovale",
|
| 369 |
+
"PFO": "patent foramen ovale",
|
| 370 |
+
"ARCF": "fetal distress",
|
| 371 |
+
"\n": " ",
|
| 372 |
+
"associated": "with",
|
| 373 |
+
}
|
| 374 |
+
|
| 375 |
+
dict_correction = {}
|
| 376 |
+
for key, value in dict_correction_FRspec.items():
|
| 377 |
+
dict_correction[" " + key + " "] = " " + value + " "
|
| 378 |
+
|
| 379 |
+
with open("data/hp_fr_en_translated_marian_review_lwg.json", "r") as outfile:
|
| 380 |
+
hpo_translated = json.load(outfile)
|
| 381 |
+
|
| 382 |
+
for key, value in hpo_translated.items():
|
| 383 |
+
dict_correction[" " + key + " "] = " " + value + " "
|
| 384 |
+
return dict_correction
|
| 385 |
+
|
| 386 |
+
|
| 387 |
+
@st.cache_resource()
|
| 388 |
+
def change_name_patient(courrier, nom, prenom):
|
| 389 |
+
courrier_name = courrier
|
| 390 |
+
dict_correction_name = {
|
| 391 |
+
" " + prenom + " ": " CAS ",
|
| 392 |
+
" " + nom + " ": " INDEX ",
|
| 393 |
+
# " " + nom_maternel + " ": " INDEX ",
|
| 394 |
+
" M .": " M ",
|
| 395 |
+
" Dr .": " Docteur ",
|
| 396 |
+
" Dr ": " Docteur ",
|
| 397 |
+
" Pr .": " Professeur ",
|
| 398 |
+
" Pr ": " Professeur ",
|
| 399 |
+
}
|
| 400 |
+
for key, value in dict_correction_name.items():
|
| 401 |
+
courrier_name = courrier_name.replace(key, value)
|
| 402 |
+
return courrier_name
|
| 403 |
+
|
| 404 |
+
|
| 405 |
+
@st.cache_resource()
|
| 406 |
+
def translate_marian(courrier_name, _nlp, _marian_fr_en):
|
| 407 |
+
list_of_sentence = []
|
| 408 |
+
for sentence in _nlp.process(courrier_name).sentences:
|
| 409 |
+
list_of_sentence.append(sentence.text)
|
| 410 |
+
MarianText_raw = "\n".join(_marian_fr_en.translate(list_of_sentence))
|
| 411 |
+
return MarianText_raw
|
| 412 |
+
|
| 413 |
+
|
| 414 |
+
@st.cache_resource()
|
| 415 |
+
def correct_marian(MarianText_space, dict_correction):
|
| 416 |
+
MarianText = MarianText_space
|
| 417 |
+
list_replaced = []
|
| 418 |
+
for key, value in dict_correction.items():
|
| 419 |
+
if key in MarianText:
|
| 420 |
+
list_replaced.append(
|
| 421 |
+
'Marian translation replaced "' + key + '" by "' + value
|
| 422 |
+
)
|
| 423 |
+
MarianText = MarianText.replace(key, value)
|
| 424 |
+
return MarianText, list_replaced
|
| 425 |
+
|
| 426 |
+
|
| 427 |
+
@st.cache_data()
|
| 428 |
+
def translate_letter(courrier, nom, prenom, _nlp, _marian_fr_en, dict_correction):
|
| 429 |
+
courrier_space = add_space_to_comma_endpoint(courrier)
|
| 430 |
+
courrier_name = change_name_patient(courrier_space, nom, prenom)
|
| 431 |
+
MarianText_raw = translate_marian(courrier_name, _nlp, _marian_fr_en)
|
| 432 |
+
MarianText_space = add_space_to_comma_endpoint(MarianText_raw)
|
| 433 |
+
MarianText, list_replaced = correct_marian(MarianText_space, dict_correction)
|
| 434 |
+
return MarianText, list_replaced
|
| 435 |
+
|
| 436 |
+
|
| 437 |
+
@st.cache_data()
|
| 438 |
+
def reformat_to_letter(text, _nlp):
|
| 439 |
+
cutsentence = []
|
| 440 |
+
for sentence in _nlp.process(text).sentences:
|
| 441 |
+
cutsentence.append(
|
| 442 |
+
sentence.text.replace(" ,", ",")
|
| 443 |
+
.replace(" .", ".")
|
| 444 |
+
.replace(" )", ")")
|
| 445 |
+
.replace(" (", "(")
|
| 446 |
+
.replace(" '", "'")
|
| 447 |
+
)
|
| 448 |
+
return " \n".join(cutsentence)
|
| 449 |
+
|
| 450 |
+
|
| 451 |
+
@st.cache_data()
|
| 452 |
+
def convert_df(df):
|
| 453 |
+
return df.to_csv(sep="\t").encode("utf-8")
|
| 454 |
+
|
| 455 |
+
|
| 456 |
+
@st.cache_data()
|
| 457 |
+
def add_biometrics(text, _nlp):
|
| 458 |
+
cutsentence_with_biometrics = []
|
| 459 |
+
cutsentence = []
|
| 460 |
+
for sentence in _nlp.process(text).sentences:
|
| 461 |
+
cutsentence.append(sentence.text)
|
| 462 |
+
keep_element = ["cm", "kg", "qit", "qi"]
|
| 463 |
+
for sentence in cutsentence:
|
| 464 |
+
if any(ext in sentence.lower() for ext in keep_element):
|
| 465 |
+
additional_terms = []
|
| 466 |
+
if "SD" in sentence or "DS" in sentence:
|
| 467 |
+
sentence = sentence.replace("DS", "SD")
|
| 468 |
+
try:
|
| 469 |
+
kg_sd = re.findall("kg(.*?)sd", sentence.lower())[0]
|
| 470 |
+
num_kg_sd = re.findall("([\-0-9.])", kg_sd)[0]
|
| 471 |
+
# print(kg_sd)
|
| 472 |
+
kg_sd = float(num_kg_sd)
|
| 473 |
+
print(kg_sd)
|
| 474 |
+
if kg_sd >= 2:
|
| 475 |
+
additional_terms.append("Increased body weight")
|
| 476 |
+
if kg_sd <= -2:
|
| 477 |
+
additional_terms.append("Decreased body weight")
|
| 478 |
+
except:
|
| 479 |
+
print("Incorrect weight recognition pattern")
|
| 480 |
+
print(sentence)
|
| 481 |
+
try:
|
| 482 |
+
if "is" in sentence.lower():
|
| 483 |
+
height_sd_alpha = re.findall("\ is(.*?)d", sentence.lower())[0]
|
| 484 |
+
if "cm" not in height_sd_alpha:
|
| 485 |
+
height_sd_raw = height_sd_alpha
|
| 486 |
+
if "easure" in sentence.lower():
|
| 487 |
+
height_sd_raw = re.findall("easure(.*?)d", sentence.lower())[0]
|
| 488 |
+
print(height_sd_raw)
|
| 489 |
+
height_sd = re.findall("m(.*?)s", height_sd_raw)[0]
|
| 490 |
+
print(height_sd)
|
| 491 |
+
num_height_sd = re.findall("([\-0-9.])", height_sd)[0]
|
| 492 |
+
height_sd = float(num_height_sd)
|
| 493 |
+
print(height_sd)
|
| 494 |
+
if height_sd >= 2:
|
| 495 |
+
additional_terms.append("Tall stature")
|
| 496 |
+
if height_sd <= -2:
|
| 497 |
+
additional_terms.append("Short stature")
|
| 498 |
+
except:
|
| 499 |
+
print("Incorrect height recognition pattern")
|
| 500 |
+
print(sentence)
|
| 501 |
+
try:
|
| 502 |
+
pc_sd_raw = (
|
| 503 |
+
re.findall("head(.*?)d", sentence.lower())[0]
|
| 504 |
+
.replace("(", "")
|
| 505 |
+
.replace(")", "")
|
| 506 |
+
.replace(" ", "")
|
| 507 |
+
)
|
| 508 |
+
pc_sd = re.findall("cm(.*?)s", pc_sd_raw)[0]
|
| 509 |
+
num_pc_sd = re.findall("([\-0-9.])", pc_sd)[0]
|
| 510 |
+
pc_sd = float(num_pc_sd)
|
| 511 |
+
print(pc_sd)
|
| 512 |
+
if pc_sd >= 2:
|
| 513 |
+
additional_terms.append("Macrocephaly")
|
| 514 |
+
elif pc_sd <= -2:
|
| 515 |
+
additional_terms.append("Microcephaly")
|
| 516 |
+
except:
|
| 517 |
+
print("Incorrect head circumference recognition pattern")
|
| 518 |
+
print(sentence)
|
| 519 |
+
print(additional_terms)
|
| 520 |
+
if "FSIQ" in sentence or "IQ" in sentence:
|
| 521 |
+
try:
|
| 522 |
+
iq_score = re.findall("iq.*?(\d.*?)\D", sentence.lower())[0]
|
| 523 |
+
iq_score = float(iq_score)
|
| 524 |
+
print(iq_score)
|
| 525 |
+
if iq_score >= 70 and iq_score < 84:
|
| 526 |
+
additional_terms.append("Intellectual disability, borderline")
|
| 527 |
+
elif iq_score >= 50 and iq_score < 69:
|
| 528 |
+
additional_terms.append("Intellectual disability, mild")
|
| 529 |
+
elif iq_score >= 35 and iq_score < 49:
|
| 530 |
+
additional_terms.append("Intellectual disability, moderate")
|
| 531 |
+
elif iq_score >= 20 and iq_score < 34:
|
| 532 |
+
additional_terms.append("Intellectual disability, severe")
|
| 533 |
+
elif iq_score < 20:
|
| 534 |
+
additional_terms.append("Intellectual disability, profound")
|
| 535 |
+
print(additional_terms)
|
| 536 |
+
except:
|
| 537 |
+
print("Incorrect IQ recognition pattern")
|
| 538 |
+
print(sentence)
|
| 539 |
+
cutsentence_with_biometrics.append(
|
| 540 |
+
sentence + " This means " + ", ".join(additional_terms) + "."
|
| 541 |
+
)
|
| 542 |
+
else:
|
| 543 |
+
cutsentence_with_biometrics.append(sentence)
|
| 544 |
+
print(cutsentence_with_biometrics)
|
| 545 |
+
cutsentence_with_biometrics_return = [
|
| 546 |
+
i for i in cutsentence_with_biometrics if i != "."
|
| 547 |
+
]
|
| 548 |
+
return " ".join(cutsentence_with_biometrics_return), additional_terms
|
| 549 |
+
|
| 550 |
+
|
| 551 |
+
models_status = get_models()
|
| 552 |
+
nlp, marian_fr_en = get_nlp_marian()
|
| 553 |
+
dict_correction = get_translation_dict_correction()
|
| 554 |
+
nom_propre = get_list_not_deidentify()
|
| 555 |
+
analyzer, engine = config_deidentify()
|
| 556 |
+
|
| 557 |
+
if "load_state" not in st.session_state:
|
| 558 |
+
st.session_state.load_state = False
|
| 559 |
+
|
| 560 |
+
with st.form("my_form"):
|
| 561 |
+
c1, c2 = st.columns(2)
|
| 562 |
+
with c1:
|
| 563 |
+
nom = st.text_input("Nom du patient ", "Doe", key="name")
|
| 564 |
+
with c2:
|
| 565 |
+
prenom = st.text_input("Prénom du patient", "John", key="surname")
|
| 566 |
+
courrier = st.text_area(
|
| 567 |
+
"Courrier à coller", "Chers collegues, ...", height=200, key="letter"
|
| 568 |
+
)
|
| 569 |
+
|
| 570 |
+
submit_button = st.form_submit_button(
|
| 571 |
+
label="Submit",
|
| 572 |
+
)
|
| 573 |
+
|
| 574 |
+
|
| 575 |
+
if submit_button or st.session_state.load_state:
|
| 576 |
+
st.session_state.load_state = True
|
| 577 |
+
MarianText, list_replaced = translate_letter(
|
| 578 |
+
courrier, nom, prenom, nlp, marian_fr_en, dict_correction
|
| 579 |
+
)
|
| 580 |
+
MarianText_letter = reformat_to_letter(MarianText, nlp)
|
| 581 |
+
|
| 582 |
+
st.subheader("Translation and De-identification")
|
| 583 |
+
(
|
| 584 |
+
MarianText_anonymize_letter_analyze,
|
| 585 |
+
analyzer_results_return,
|
| 586 |
+
analyzer_results_keep,
|
| 587 |
+
analyzer_results_saved,
|
| 588 |
+
) = anonymize_analyzer(MarianText_letter, analyzer, nom_propre)
|
| 589 |
+
with st.expander("See country-specific correction"):
|
| 590 |
+
st.write(list_replaced)
|
| 591 |
+
with st.expander("See de-identified element"):
|
| 592 |
+
st.write("De-identified elements")
|
| 593 |
+
st.write(analyzer_results_keep)
|
| 594 |
+
st.write("Keep elements")
|
| 595 |
+
st.write(analyzer_results_saved)
|
| 596 |
+
|
| 597 |
+
st.caption(MarianText_anonymize_letter_analyze)
|
| 598 |
+
|
| 599 |
+
MarianText_anonymize_letter_engine = anonymize_engine(
|
| 600 |
+
MarianText_letter, analyzer_results_return, engine
|
| 601 |
+
)
|
| 602 |
+
|
| 603 |
+
MarianText_anonymize_letter_engine_modif = pd.DataFrame(
|
| 604 |
+
[x for x in MarianText_anonymize_letter_engine.split("\n")]
|
| 605 |
+
)
|
| 606 |
+
MarianText_anonymize_letter_engine_modif.columns = [
|
| 607 |
+
"Modify / curate the automatically translated and de-identified letter before downloading:"
|
| 608 |
+
]
|
| 609 |
+
MarianText_anonymize_letter_engine_df = st.experimental_data_editor(
|
| 610 |
+
MarianText_anonymize_letter_engine_modif,
|
| 611 |
+
num_rows="dynamic",
|
| 612 |
+
key="letter_editor",
|
| 613 |
+
use_container_width=True,
|
| 614 |
+
)
|
| 615 |
+
|
| 616 |
+
st.caption("Modify cells above 👆 or even ➕ add rows, before downloading 👇")
|
| 617 |
+
|
| 618 |
+
st.download_button(
|
| 619 |
+
"Download translated and de-identified letter",
|
| 620 |
+
convert_df(MarianText_anonymize_letter_engine_df),
|
| 621 |
+
"translated_and_deindentified_letter.txt",
|
| 622 |
+
"text",
|
| 623 |
+
key="download-translation",
|
| 624 |
+
)
|
| 625 |
+
|
| 626 |
+
st.subheader("Summarization")
|
| 627 |
+
|
| 628 |
+
MarianText_anonymized_reformat_space = add_space_to_comma_endpoint(
|
| 629 |
+
MarianText_anonymize_letter_engine
|
| 630 |
+
)
|
| 631 |
+
MarianText_anonymized_reformat_biometrics, additional_terms = add_biometrics(
|
| 632 |
+
MarianText_anonymized_reformat_space, nlp
|
| 633 |
+
)
|
| 634 |
+
|
| 635 |
+
with st.expander("See additional terms extracted with biometrics analysis"):
|
| 636 |
+
st.write(additional_terms)
|
| 637 |
+
|
| 638 |
+
with open("sample_translated_deindentified_biometrics.txt", "w") as f:
|
| 639 |
+
f.write(MarianText_anonymized_reformat_biometrics)
|
| 640 |
+
|
| 641 |
+
with open("extract_clinphen_patient.tsv", "w") as outfile:
|
| 642 |
+
subprocess.run(
|
| 643 |
+
[
|
| 644 |
+
"clinphen",
|
| 645 |
+
"sample_translated_deindentified_biometrics.txt",
|
| 646 |
+
],
|
| 647 |
+
stdout=outfile,
|
| 648 |
+
)
|
| 649 |
+
|
| 650 |
+
clinphen = pd.read_csv("extract_clinphen_patient.tsv", sep="\t")
|
| 651 |
+
|
| 652 |
+
clinphen_df = st.experimental_data_editor(
|
| 653 |
+
clinphen, num_rows="dynamic", key="data_editor"
|
| 654 |
+
)
|
| 655 |
+
|
| 656 |
+
st.caption("Modify cells above 👆 or even ➕ add rows, before downloading 👇")
|
| 657 |
+
|
| 658 |
+
st.download_button(
|
| 659 |
+
"Download summarized letter in HPO format",
|
| 660 |
+
convert_df(clinphen_df),
|
| 661 |
+
"translated_and_deindentified_letter.tsv",
|
| 662 |
+
"text/csv",
|
| 663 |
+
key="download-summarization",
|
| 664 |
+
)
|
pyproject.toml
ADDED
|
@@ -0,0 +1,19 @@
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| 1 |
+
[tool.poetry]
|
| 2 |
+
name = "linguo_franca"
|
| 3 |
+
version = "0.1.0"
|
| 4 |
+
description = ""
|
| 5 |
+
authors = ["kyauy <kevin.yauy@gmail.com>"]
|
| 6 |
+
|
| 7 |
+
[tool.poetry.dependencies]
|
| 8 |
+
python = ">=3.8.0,<3.12"
|
| 9 |
+
pyhpo = "^3.1.3"
|
| 10 |
+
clinphen = "^1.28"
|
| 11 |
+
argostranslate = "^1.8.0"
|
| 12 |
+
transformers = "^4.26.1"
|
| 13 |
+
|
| 14 |
+
[tool.poetry.dev-dependencies]
|
| 15 |
+
pytest = "^5.2"
|
| 16 |
+
|
| 17 |
+
[build-system]
|
| 18 |
+
requires = ["poetry-core>=1.0.0"]
|
| 19 |
+
build-backend = "poetry.core.masonry.api"
|