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Code Aire thérapeutique (HPO) :
HP:0002664Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:444002 11q22.2q22.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- ORPHA:7 3C syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:916 Aase-Smith syndrome
- OMIM:147800 Aase-Smith syndrome I
- ORPHA:926 Acatalasemia
- OMIM:613736 Acne inversa, familial, 2, with or without dowling-degos disease
- ORPHA:79086 Acquired generalized lipodystrophy
- ORPHA:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:454 Acquired ichthyosis
- ORPHA:75564 Acquired idiopathic sideroblastic anemia
- ORPHA:49566 Acquired purpura fulminans
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:79151 Acrokeratosis verruciformis of Hopf
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- ORPHA:2098 Acromesomelic dysplasia, Grebe type
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- ORPHA:318 Acute erythroid leukemia
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:86843 Acute panmyelosis with myelofibrosis
- OMIM:612376 Acute promyelocytic leukemia
- OMIM:102660 Adamantinoma of long bones
- OMIM:616028 Adams-Oliver syndrome 5
- ORPHA:85138 Addison disease
- ORPHA:424016 Adenocarcinoma of the anal canal
- ORPHA:99976 Adenocarcinoma of the esophagus
- OMIM:175100 Adenomatous polyposis coli
- OMIM:103200 Adiposis dolorosa
- ORPHA:1501 Adrenocortical carcinoma
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- OMIM:202300 Adrenocortical carcinoma, pediatric
- OMIM:300270 ADRENOMYODYSTROPHY
- ORPHA:139507 African iron overload
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:98850 Aggressive systemic mastocytosis
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:118450 Alagille syndrome 1
- OMIM:613490 Alpha-1-Antitrypsin deficiency
- ORPHA:100025 Alpha-heavy chain disease
- ORPHA:846 Alpha-thalassemia
- OMIM:300448 Alpha-Thalassemia myelodysplasia syndrome
- ORPHA:231401 Alpha-thalassemia-myelodysplastic syndrome
- ORPHA:63 Alport syndrome
- OMIM:301050 Alport syndrome, X-linked
- OMIM:606243 Alveolar soft part sarcoma
- OMIM:619151 AMED syndrome, digenic
- OMIM:204690 Amelogenesis imperfecta, type IG (enamel-renal syndrome)
- OMIM:104600 Amenorrhea-Galactorrhea syndrome
- OMIM:105580 Anal canal carcinomacloacogenic carcinoma, included
- ORPHA:142 Anaplastic thyroid carcinoma
- ORPHA:754 Androgen insensitivity syndrome
- OMIM:300068 Androgen insensitivity syndrome
- OMIM:619523 Anemia, sideroblastic, 5
- OMIM:182170 Anemia, sideroblastic, autosomal dominant
- OMIM:206550 Angiolipomatosis, familial
- OMIM:106070 Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included
- OMIM:607859 Angioma, tufted
- ORPHA:2346 Angioosteohypertrophic syndrome
- ORPHA:81 Antisynthetase syndrome
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- ORPHA:87 Apert syndrome
- ORPHA:2356 Arachnoid cyst
- ORPHA:1133 AREDYLD syndrome
- ORPHA:2302 Asbestos intoxication
- ORPHA:1163 Aspergillosis
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- OMIM:159550 Ataxia-Pancytopenia syndrome
- ORPHA:2585 Ataxia-pancytopenia syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:100 Ataxia-telangiectasia
- ORPHA:56304 Atelosteogenesis type II
- ORPHA:79100 Atrophoderma vermiculata
- ORPHA:220460 Attenuated familial adenomatous polyposis
- ORPHA:99966 Atypical teratoid rhabdoid tumor
- ORPHA:79474 Atypical Werner syndrome
- ORPHA:137888 Auriculocondylar syndrome
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:98375 Autoimmune hemolytic anemia
- ORPHA:90033 Autoimmune hemolytic anemia, warm type
- ORPHA:2137 Autoimmune hepatitis
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:619375 Autoinflammatory syndrome, familial, with or without immunodeficiency
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:730 Autosomal dominant polycystic kidney disease
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:401911 AXIN2-related attenuated familial adenomatous polyposis
- ORPHA:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Code pathologie
Nom de la pathologie
- OMIM:151430 B-CELL CLL/LYMPHOMA 2
- OMIM:109543 B-CELL MALIGNANCY, LOW-GRADE
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- OMIM:614266 Barrett esophagus
- OMIM:605462 Basal cell carcinoma, susceptibility to, 1
- OMIM:109400 Basal cell nevus syndrome
- OMIM:605827 Basaloid follicular hamartoma syndrome, generalized, autosomal dominant
- OMIM:301032 Basilicata-Akhtar syndrome
- OMIM:301845 Bazex syndrome
- ORPHA:166113 Bazex syndrome
- ORPHA:113 Bazex-Dupré-Christol syndrome
- ORPHA:64755 Becker nevus syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:65682 Benign recurrent intrahepatic cholestasis
- ORPHA:252164 Benign schwannoma
- ORPHA:231222 Beta-thalassemia intermedia
- ORPHA:231214 Beta-thalassemia major
- OMIM:135150 Birt-Hogg-Dube syndrome
- ORPHA:122 Birt-Hogg-Dubé syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:109800 Bladder cancer
- ORPHA:90340 Blau syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- ORPHA:1059 Blue rubber bleb nevus
- OMIM:112200 Blue rubber bleb nevus
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- OMIM:620044 Bone marrow failure and diabetes mellitus syndrome
- OMIM:614675 Bone marrow failure syndrome 1
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618849 Bone marrow failure syndrome 6
- ORPHA:1297 Branchio-oculo-facial syndrome
- OMIM:113620 Branchiooculofacial syndrome
- OMIM:113650 Branchiootorenal syndrome 1
- OMIM:114480 Breast cancer
- OMIM:604370 Breast-Ovarian cancer, familial, susceptibility to, 1
- OMIM:612555 Breast-Ovarian cancer, familial, susceptibility to, 2
- ORPHA:97287 Bronchial neuroendocrine tumor
- ORPHA:79493 Brooke-Spiegler syndrome
- OMIM:605041 Brooke-Spiegler syndrome
- OMIM:600880 Budd-Chiari syndrome
- ORPHA:280785 Bullous diffuse cutaneous mastocytosis
- ORPHA:543 Burkitt lymphoma
- OMIM:113970 Burkitt lymphoma
- ORPHA:1306 Buschke-Ollendorff syndrome
- ORPHA:132 Butyrylcholinesterase deficiency
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:114030 Cafe-Au-Lait spots, multiple
- ORPHA:1318 Campomelia, Cumming type
- ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3
- OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome
- OMIM:618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
- OMIM:114450 Cancer, familial, with in vitro radioresistance
- ORPHA:71505 Cancer-associated retinopathy
- ORPHA:160148 Cap polyposis
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- OMIM:608354 Capillary malformation-arteriovenous malformation 1
- ORPHA:100093 Carcinoid syndrome
- OMIM:114900 Carcinoid tumors, intestinal
- ORPHA:70482 Carcinoma of esophagus
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- ORPHA:1359 Carney complex
- OMIM:608837 Carney complex variant
- OMIM:160980 Carney complex, type 1
- ORPHA:139411 Carney triad
- OMIM:606864 Carney-Stratakis syndrome
- ORPHA:97286 Carney-Stratakis syndrome
- ORPHA:53035 Caroli disease
- ORPHA:480520 Caroli syndrome
- OMIM:250250 Cartilage-hair hypoplasia
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome
- OMIM:212750 Celiac disease, susceptibility to, 1
- ORPHA:759 Central precocious puberty
- ORPHA:46724 Cerebral arteriovenous malformation
- OMIM:116860 Cerebral cavernous malformations 1
- OMIM:603284 Cerebral cavernous malformations 2
- OMIM:603285 Cerebral cavernous malformations 3
- OMIM:619538 Cerebral cavernous malformations 4
- OMIM:603956 Cervical cancer
- OMIM:613641 Charcot-marie-tooth disease, recessive intermediate B
- ORPHA:1221 Cheilitis glandularis
- OMIM:118350 Chemodectoma, intraabdominal, with cutaneous angiolipomas
- ORPHA:90280 Chilblain lupus
- ORPHA:3474 CHIME syndrome
- OMIM:615619 CHOLANGIOCARCINOMA
- ORPHA:70567 Cholangiocarcinoma
- OMIM:601847 Cholestasis, progressive familial intrahepatic 2
- OMIM:615878 Cholestasis, progressive familial intrahepatic 4
- ORPHA:1414 Cholestasis-lymphedema syndrome
- OMIM:215300 Chondrosarcoma
- OMIM:612237 Chondrosarcoma, extraskeletal myxoid
- OMIM:215400 Chordoma, susceptibility to
- OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- ORPHA:1433 Choroidal atrophy-alopecia syndrome
- OMIM:118865 Choroidal osteoma, bilateral
- ORPHA:182 Chromomycosis
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:616604 Chromosome 14q32 duplication syndrome, 700-kb
- OMIM:610543 Chromosome 16p13.3 deletion syndrome
- OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb
- OMIM:153550 Chromosome 5q deletion syndrome
- OMIM:158170 Chromosome 9P deletion syndrome
- OMIM:300942 Chromosome Xq26.3 duplication syndrome
- ORPHA:330064 Chronic actinic dermatitis
- ORPHA:521 Chronic myeloid leukemia
- ORPHA:70591 Chronic thromboembolic pulmonary hypertension
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:1160 Chylous ascites
- ORPHA:247585 Citrullinemia type II
- OMIM:603471 Citrullinemia, type II, adult-onset
- ORPHA:168984 CLAPO syndrome
- ORPHA:391 Classic Hodgkin lymphoma
- ORPHA:2584 Classic mycosis fungoides
- ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome
- OMIM:155145 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa
- ORPHA:1465 Coffin-Siris syndrome
- OMIM:135900 Coffin-Siris syndrome 1
- OMIM:114500 Colorectal cancer
- OMIM:609310 Colorectal cancer, hereditary nonpolyposis, type 2
- OMIM:614337 Colorectal cancer, hereditary nonpolyposis, type 4
- OMIM:614350 Colorectal cancer, hereditary nonpolyposis, type 5
- OMIM:614331 Colorectal cancer, hereditary nonpolyposis, type 6
- OMIM:614385 Colorectal cancer, hereditary nonpolyposis, type 7
- OMIM:613244 Colorectal cancer, hereditary nonpolyposis, type 8
- OMIM:612591 Colorectal cancer, susceptibility to, 10
- OMIM:615083 Colorectal cancer, susceptibility to, 12
- OMIM:612229 Colorectal cancer, susceptibility to, 3
- ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction
- ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency
- ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency
- ORPHA:1572 Common variable immunodeficiency
- ORPHA:99429 Complete androgen insensitivity syndrome
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- OMIM:619775 Congenital disorder of deglycosylation 2
- OMIM:608799 Congenital disorder of glycosylation, type IE
- OMIM:212066 Congenital disorder of glycosylation, type IIa
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:331 Congenital factor XIII deficiency
- OMIM:217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:2430 Congenital macroglossia
- ORPHA:139414 Congenital panfollicular nevus
- ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:95459 Congenital tricuspid stenosis
- OMIM:614701 Cornelia de Lange syndrome 4
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- ORPHA:201 Cowden syndrome
- OMIM:158350 Cowden syndrome 1
- OMIM:615107 Cowden syndrome 4
- OMIM:615108 Cowden syndrome 5
- OMIM:615109 Cowden syndrome 6
- OMIM:616858 Cowden syndrome 7
- OMIM:612359 Cowden-Like syndrome
- ORPHA:50814 Craniolenticulosutural dysplasia
- OMIM:607812 Craniolenticulosutural dysplasia
- ORPHA:54595 Craniopharyngioma
- ORPHA:2930 Cronkhite-Canada syndrome
- OMIM:123500 Crouzon syndrome
- ORPHA:1546 Cryptococcosis
- ORPHA:1552 Currarino syndrome
- OMIM:176450 Currarino syndrome
- ORPHA:96253 Cushing disease
- ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion
- ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia
- OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia
- ORPHA:79140 Cutaneous neuroendocrine carcinoma
- OMIM:614564 Cutaneous telangiectasia and cancer syndrome, familial
- ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- ORPHA:1556 Cutis marmorata telangiectatica congenita
- OMIM:132700 Cylindromatosis, familial
- OMIM:609162 Czech dysplasia, Metatarsal type
Code pathologie
Nom de la pathologie
- OMIM:278800 De Sanctis-Cacchione syndrome
- ORPHA:3226 Deafness-lymphedema-leukemia syndrome
- ORPHA:1653 Dentin dysplasia
- ORPHA:220 Denys-Drash syndrome
- OMIM:194080 Denys-Drash syndrome
- ORPHA:31112 Dermatofibrosarcoma protuberans
- ORPHA:221 Dermatomyositis
- OMIM:135290 Desmoid disease, hereditary
- ORPHA:873 Desmoid tumor
- ORPHA:83469 Desmoplastic small round cell tumor
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- ORPHA:1666 Dextrocardia
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:608022 Diaphanospondylodysostosis
- OMIM:112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- ORPHA:1672 Diencephalic syndrome
- ORPHA:1916 Diethylstilbestrol syndrome
- ORPHA:79456 Diffuse cutaneous mastocytosis
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:223200 Disorganization, mouse, homolog of
- ORPHA:79152 Disseminated superficial actinic porokeratosis
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261102 Distal 7q11.23 microduplication syndrome
- ORPHA:96149 Distal monosomy 12q
- ORPHA:314588 Distal tetrasomy 15q
- OMIM:223350 Dohle bodies and leukemia
- ORPHA:231226 Dominant beta-thalassemia
- ORPHA:79500 DOORS syndrome
- ORPHA:79145 Dowling-Degos disease
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- OMIM:608902 Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:100076 Duodenal neuroendocrine tumor
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:1775 Dyskeratosis congenita
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:613988 Dyskeratosis congenita, autosomal recessive, 3
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- ORPHA:1798 Dysostosis, Stanescu type
- ORPHA:1822 Dysplasia epiphysealis hemimelica
- OMIM:127820 Dysplasia epiphysealis hemimelica with chondromas and osteochondromas
- ORPHA:85198 Dysspondyloenchondromatosis
- OMIM:619291 Dystonia 30
Code pathologie
Nom de la pathologie
- OMIM:128300 Ear exostoses
- ORPHA:231632 Ectopic aldosterone-producing tumor
- ORPHA:1896 EEC syndrome
- OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2
- ORPHA:289 Ellis Van Creveld syndrome
- ORPHA:2396 Encephalocraniocutaneous lipomatosis
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- OMIM:166000 Enchondromatosis, multiple
- OMIM:608089 Endometrial carcinoma, somatic
- ORPHA:60015 Enlarged parietal foramina
- ORPHA:251636 Ependymoma
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:162900 Epidermal nevus, somatic
- ORPHA:302 Epidermodysplasia verruciformis
- OMIM:618231 Epidermodysplasia verruciformis 2
- OMIM:226400 Epidermodysplasia verruciformis, susceptibility to, 1
- OMIM:618267 Epidermodysplasia verruciformis, susceptibility to, 3
- OMIM:618307 Epidermodysplasia verruciformis, susceptibility to, 4
- OMIM:618309 Epidermodysplasia verruciformis, susceptibility to, 5
- OMIM:305350 Epidermodysplasia verruciformis, X-linked
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:263400 Erythrocytosis, familial, 2
- ORPHA:315 Erythrokeratoderma ''en cocardes''
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:133180 Erythroleukemia, familial, susceptibility to
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:133239 Esophageal cancer, somatic
- ORPHA:3318 Essential thrombocythemia
- OMIM:612219 Ewing sarcoma
- OMIM:133600 Exostoses of heel
- OMIM:133690 Exostoses with anetodermia and brachydactyly, type E
- OMIM:133700 Exostoses, multiple, type I
- OMIM:133701 Exostoses, multiple, type II
- OMIM:600209 Exostoses, multiple, type III
- ORPHA:1962 Exostoses-anetodermia-brachydactyly type E syndrome
- ORPHA:3294 Extensor tendons of finger anomalies
Code pathologie
Nom de la pathologie
- ORPHA:733 Familial adenomatous polyposis
- OMIM:616415 Familial adenomatous polyposis 3
- OMIM:617100 Familial adenomatous polyposis 4
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- OMIM:608456 Familial adenomatous polyposis, 2
- ORPHA:615 Familial atrial myxoma
- OMIM:613399 Familial breast-ovarian cancer-1
- ORPHA:221061 Familial cerebral cavernous malformation
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:361 Familial glucocorticoid deficiency
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:405 Familial hypocalciuric hypercalcemia
- ORPHA:99879 Familial isolated hyperparathyroidism
- ORPHA:493 Familial keratoacanthoma
- ORPHA:618 Familial melanoma
- ORPHA:276399 Familial multinodular goiter
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:867 Familial multiple trichoepithelioma
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:71493 Familial thrombocytosis
- ORPHA:53715 Familial tumoral calcinosis
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:614082 Fanconi anemia, complementation group G
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:617784 Fanconi anemia, complementation group W
- OMIM:618913 Fanconi renotubular syndrome 5
- ORPHA:2088 Fanconi-Bickel syndrome
- OMIM:227850 Fanconi-Like syndrome
- ORPHA:47612 Felty syndrome
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:1912 Fetal hydantoin syndrome
- OMIM:135100 Fibrodysplasia ossificans progressiva
- OMIM:135300 Fibromatosis, gingival, 1
- OMIM:617626 Fibromatosis, gingival, 5
- OMIM:228560 Fibromatosis, gingival, with distinctive facies
- OMIM:135550 Fibromatosis, gingival, with progressive deafness
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:1757 Fibular dimelia-diplopodia syndrome
- ORPHA:2045 FLOTCH syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- ORPHA:398189 Focal facial dermal dysplasia type IV
- ORPHA:545 Follicular lymphoma
- OMIM:613024 Follicular lymphoma, susceptibility to, 1
- OMIM:136680 Frasier syndrome
- ORPHA:347 Frasier syndrome
- OMIM:229400 Frontofacionasal dysplasia
- OMIM:136760 Frontonasal dysplasia 1
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- OMIM:605321 Frontoocular syndrome
- ORPHA:391474 Frontorhiny
- ORPHA:637 Full NF2-related schwannomatosis
- OMIM:606812 Fumarase deficiency
- ORPHA:91348 Functioning gonadotropic adenoma
- ORPHA:228119 Fusariosis
Code pathologie
Nom de la pathologie
- ORPHA:506358 Gabriele-de Vries syndrome
- OMIM:256540 Galactosialidosis
- ORPHA:100086 Gallbladder neuroendocrine tumor
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:251937 Gangliocytoma
- ORPHA:251992 Ganglioneuroma
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:619182 Gastric adenocarcinoma and proximal polyposis of the stomach
- OMIM:137215 Gastric cancer, hereditary diffuse
- OMIM:613659 Gastric cancer, somatic
- OMIM:137245 Gastric lymphoma, primary
- OMIM:109350 Gastroesophageal reflux
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:606764 Gastrointestinal stromal tumor
- ORPHA:44890 Gastrointestinal stromal tumor
- OMIM:175510 Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial
- OMIM:230800 Gaucher disease, type I
- ORPHA:438274 GCGR-related hyperglucagonemia
- ORPHA:157991 Generalized eruptive histiocytosis
- ORPHA:329971 Generalized juvenile polyposis/juvenile polyposis coli
- ORPHA:85197 Genochondromatosis type 1
- ORPHA:99926 Gestational choriocarcinoma
- OMIM:137575 Gigantiform cementoma, familial
- ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome
- ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome
- ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome
- ORPHA:358 Gitelman syndrome
- ORPHA:360 Glioblastoma
- OMIM:137800 Glioma susceptibility 1
- OMIM:613029 Glioma susceptibility 3
- OMIM:616568 Glioma susceptibility 9
- OMIM:618272 Global developmental delay, lung cysts, overgrowth, and wilms tumor
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency
- ORPHA:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
- ORPHA:370 Glycogen storage disease due to phosphorylase kinase deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232240 Glycogen storage disease Ic
- OMIM:138800 Goiter, multinodular 1
- OMIM:424500 GONADOBLASTOMA
- ORPHA:206484 Gonadoblastoma
- ORPHA:169105 Good syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:377 Gorlin syndrome
- ORPHA:33111 Granulomatous slack skin
- ORPHA:721 Gray platelet syndrome
- ORPHA:97261 GRFoma
Code pathologie
Nom de la pathologie
- ORPHA:99803 Haddad syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:609808 Hamartoma, precalcaneal congenital fibrolipomatous
- ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:602089 Hemangioma, capillary infantile
- OMIM:141000 Hemangioma-Thrombocytopenia syndrome
- OMIM:140900 Hemangiomas of small intestine
- OMIM:140850 Hemangiomas, cavernous, of face and supraumbilical midline raphe
- OMIM:235000 Hemihyperplasia, isolated
- ORPHA:276280 Hemihyperplasia-multiple lipomatosis syndrome
- OMIM:235200 Hemochromatosis, type 1
- ORPHA:2136 Hennekam syndrome
- OMIM:142330 Hepatic adenomas, familial
- OMIM:114550 Hepatocellular carcinoma
- ORPHA:88673 Hepatocellular carcinoma
- ORPHA:64743 Hepatoportal sclerosis
- OMIM:619902 Hepatorenocardiac degenerative fibrosis
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:145 Hereditary breast and ovarian cancer syndrome
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:2024 Hereditary gingival fibromatosis
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:523 Hereditary leiomyomatosis and renal cell cancer
- OMIM:150800 Hereditary leiomyomatosis and renal cell cancer
- ORPHA:157794 Hereditary mixed polyposis syndrome
- ORPHA:1062 Hereditary neurocutaneous malformation
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:79430 Hermansky-Pudlak syndrome
- ORPHA:388 Hirschsprung disease
- ORPHA:2151 Hirschsprung disease-ganglioneuroblastoma syndrome
- ORPHA:3283 His bundle tachycardia
- OMIM:612160 Histiocytoma, angiomatoid fibrous, somatic
- OMIM:142630 Histiocytosis, progressive mucinous
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:98293 Hodgkin lymphoma
- ORPHA:2162 Holoprosencephaly
- ORPHA:3322 Hoyeraal-Hreidarsson syndrome
- ORPHA:3266 Humero-radio-ulnar synostosis
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:181600 Huriez syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:1041 Hydrops fetalis
- OMIM:260920 Hyper-Igd syndrome
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:607685 Hypereosinophilic syndrome, idiopathic
- ORPHA:409 Hyperkeratosis lenticularis perstans
- OMIM:145001 Hyperparathyroidism 2
- OMIM:617343 Hyperparathyroidism 4
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:135400 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
- OMIM:145980 Hypocalciuric hypercalcemia, familial, type I
- OMIM:145981 Hypocalciuric hypercalcemia, familial, type II
- OMIM:600740 Hypocalciuric hypercalcemia, familial, type III
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- ORPHA:681 Hypokalemic periodic paralysis
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
Code pathologie
Nom de la pathologie
- OMIM:602540 Ichthyosis, hystrix-like, with deafness
- OMIM:308100 Ichthyosis, X-linked
- ORPHA:3260 Idiopathic hypereosinophilic syndrome
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:64744 IgG4-related thyroid disease
- ORPHA:100078 Ileal neuroendocrine tumor
- ORPHA:206569 Immune-mediated necrotizing myopathy
- OMIM:612783 Immunodeficiency 10
- OMIM:301082 Immunodeficiency 102
- OMIM:619924 Immunodeficiency 105, severe combined
- OMIM:615593 Immunodeficiency 16
- OMIM:614172 Immunodeficiency 21
- OMIM:615816 Immunodeficiency 23
- OMIM:615897 Immunodeficiency 24
- OMIM:616005 Immunodeficiency 36
- OMIM:609981 Immunodeficiency 54
- OMIM:617827 Immunodeficiency 55
- OMIM:618131 Immunodeficiency 58
- OMIM:300310 Immunodeficiency 61
- OMIM:618534 Immunodeficiency 64
- OMIM:618969 Immunodeficiency 70
- OMIM:619126 Immunodeficiency 75
- OMIM:619164 Immunodeficiency 76
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:619238 Immunodeficiency 79
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619437 Immunodeficiency 84
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:613860 Immunodeficiency due to ficolin 3 deficiency
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- OMIM:608184 Immunodeficiency with hyper-IgM, type 4
- OMIM:616873 Immunodeficiency, common variable, 13
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- OMIM:242880 Immunoerythromyeloid hypoplasia
- ORPHA:45453 Incessant infant ventricular tachycardia
- ORPHA:464 Incontinentia pigmenti
- ORPHA:98848 Indolent systemic mastocytosis
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:90003 Inflammatory pseudotumor of the liver
- ORPHA:2298 Insulin-resistance syndrome type B
- ORPHA:97279 Insulinoma
- OMIM:606960 Insulinoma tumor suppressor gene locus
- OMIM:147630 Insulinomatosis and diabetes mellitus
- OMIM:619910 Intellectual developmental disorder, autosomal dominant 66
- OMIM:618295 Intellectual developmental disorder, autosomal recessive 67
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- ORPHA:65683 Isolated focal cortical dysplasia
- ORPHA:2128 Isolated hemihyperplasia
Code pathologie
Nom de la pathologie
- ORPHA:100077 Jejunal neuroendocrine tumor
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:2028 Juvenile hyaline fibromatosis
- OMIM:607785 Juvenile myelomonocytic leukemia
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:79076 Juvenile polyposis of infancy
- OMIM:174900 Juvenile polyposis syndrome
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA:158000 Juvenile xanthogranuloma
Code pathologie
Nom de la pathologie
- ORPHA:254519 Kagami-Ogata syndrome
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- OMIM:612713 Kahrizi syndrome
- ORPHA:33276 Kaposi sarcoma
- OMIM:148000 Kaposi sarcoma, susceptibility to
- ORPHA:464329 Kaposiform lymphangiomatosis
- ORPHA:2330 Kasabach-Merritt syndrome
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:182000 Keratosis, seborrheic, somatic
- ORPHA:477 KID syndrome
- ORPHA:2908 Kindler epidermolysis bullosa
- ORPHA:99978 Klatskin tumor
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:149000 Klippel-Trenaunay-Weber syndrome
- ORPHA:1571 Knobloch syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
Code pathologie
Nom de la pathologie
- ORPHA:79314 L-2-hydroxyglutaric aciduria
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- ORPHA:626 Large congenital melanocytic nevus
- ORPHA:100083 Laryngeal neuroendocrine tumor
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:199299 Late-onset isolated ACTH deficiency
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- ORPHA:137605 Legius syndrome
- OMIM:611431 Legius syndrome
- OMIM:150699 Leiomyoma, uterine
- OMIM:308940 Leiomyomatosis, diffuse, with alport syndrome
- OMIM:613707 Leopard syndrome 3
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- OMIM:613065 Leukemia, acute lymphocytic, susceptibility to, 1
- OMIM:151380 Leukemia, acute monocytic
- OMIM:246470 Leukemia, acute myelocytic, with polyposis coli and colon cancer
- OMIM:601626 Leukemia, acute myeloid
- OMIM:308960 Leukemia, acute, ?x-linked
- OMIM:151400 Leukemia, chronic lymphocytic
- OMIM:608232 Leukemia, chronic myeloid
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:2387 Leukonychia totalis
- ORPHA:755 Leydig cell hypoplasia
- ORPHA:65285 Lhermitte-Duclos disease
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- OMIM:609265 Li-Fraumeni syndrome 2
- ORPHA:525 Lichen planopilaris
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:46488 Linear IgA dermatosis
- ORPHA:2612 Linear nevus sebaceus syndrome
- ORPHA:2611 Linear verrucous nevus syndrome
- OMIM:151640 Lip, hamartomatous
- ORPHA:530 Lipoid proteinosis
- OMIM:151700 Lipoma of the conjunctiva
- OMIM:151800 Lipomatosis, familial benign cervical
- OMIM:151900 Lipomatosis, multiple
- ORPHA:69078 Liposarcoma
- OMIM:619991 Liver disease, severe congenital
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:69663 Low phospholipid-associated cholelithiasis
- ORPHA:83628 LUMBAR syndrome
- OMIM:211980 Lung cancer, susceptibility to
- OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS
- ORPHA:538 Lymphangioleiomyomatosis
- OMIM:153100 Lymphatic malformation 1
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:247640 Lymphoblastic leukemia, acute, with lymphomatous features
- OMIM:236000 Lymphoma, hodgkin
- OMIM:605027 Lymphoma, non-hodgkin, familial
- OMIM:613011 Lymphoproliferative syndrome 1
- OMIM:615122 Lymphoproliferative syndrome 2
- OMIM:618261 Lymphoproliferative syndrome 3
- OMIM:308240 Lymphoproliferative syndrome, X-linked, 1
- ORPHA:144 Lynch syndrome
- OMIM:120435 Lynch syndrome I
Code pathologie
Nom de la pathologie
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- OMIM:153600 Macroglobulinemia, Waldenstrom, somatic
- OMIM:248100 Macrosomia adiposa congenita
- ORPHA:163634 Maffucci syndrome
- ORPHA:556 Malakoplakia
- ORPHA:168811 Malignant peritoneal mesothelioma
- ORPHA:52417 MALT lymphoma
- OMIM:602562 Mandibulofacial dysostosis with macroblepharon and macrostomia
- ORPHA:52416 Mantle cell lymphoma
- OMIM:248700 Marden-Walker syndrome
- OMIM:602535 Marshall-Smith syndrome
- ORPHA:66661 Mast cell sarcoma
- ORPHA:98292 Mastocytosis
- OMIM:154800 Mastocytosis, cutaneous
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- ORPHA:1332 Medullary thyroid carcinoma
- OMIM:155255 MEDULLOBLASTOMA
- ORPHA:616 Medulloblastoma
- ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- ORPHA:90186 Meige disease
- OMIM:137550 Melanocytic nevus syndrome, congenital
- OMIM:155600 Melanoma, cutaneous malignant
- OMIM:615848 Melanoma, cutaneous malignant, susceptibility to, 10
- OMIM:155601 Melanoma, cutaneous malignant, susceptibility to, 2
- OMIM:609048 Melanoma, cutaneous malignant, susceptibility to, 3
- OMIM:614456 Melanoma, cutaneous malignant, susceptibility to, 8
- OMIM:615134 Melanoma, cutaneous malignant, susceptibility to, 9
- OMIM:155700 Melanoma, malignant familial intraocular
- OMIM:155720 Melanoma, uveal
- OMIM:606661 Melanoma, uveal, susceptibility to, 2
- OMIM:155755 Melanoma-Astrocytoma syndrome
- OMIM:606719 Melanoma-Pancreatic cancer syndrome
- ORPHA:1879 Melorheostosis with osteopoikilosis
- ORPHA:2494 Ménétrier disease
- ORPHA:2495 Meningioma
- OMIM:607174 Meningioma, familial, susceptibility to
- ORPHA:565 Menkes disease
- OMIM:614113 Mental retardation, autosomal dominant 2
- ORPHA:551 MERRF
- OMIM:156240 Mesothelioma, malignant
- ORPHA:2499 Metachondromatosis
- OMIM:156250 METACHONDROMATOSIS
- ORPHA:512 Metachromatic leukodystrophy
- ORPHA:309271 Metachromatic leukodystrophy, adult form
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:280200 Microform holoprosencephaly
- OMIM:206900 Microphthalmia, syndromic 3
- ORPHA:100084 Middle ear neuroendocrine tumor
- ORPHA:79452 Milroy disease
- OMIM:617053 Mirage syndrome
- OMIM:276300 Mismatch repair cancer syndrome 1
- OMIM:619096 Mismatch repair cancer syndrome 2
- OMIM:619097 Mismatch repair cancer syndrome 3
- OMIM:619101 Mismatch repair cancer syndrome 4
- OMIM:256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
- ORPHA:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:90036 Mixed-type autoimmune hemolytic anemia
- ORPHA:552 MODY
- ORPHA:1587 Monosomy 13q14
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- OMIM:619041 Monosomy 7 myelodysplasia and leukemia syndrome 2
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- OMIM:617598 Mosaic variegated aneuploidy syndrome 3
- ORPHA:480536 MSH3-related attenuated familial adenomatous polyposis
- OMIM:252500 Mucolipidosis II alpha/beta
- ORPHA:587 Muir-Torre syndrome
- OMIM:158320 Muir-Torre syndrome
- OMIM:253250 Mulibrey nanism
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- OMIM:614569 Multiple enchondromatosis, Maffucci type
- OMIM:131100 Multiple endocrine neoplasia 1
- ORPHA:652 Multiple endocrine neoplasia type 1
- ORPHA:653 Multiple endocrine neoplasia type 2
- ORPHA:276152 Multiple endocrine neoplasia type 4
- OMIM:171400 Multiple endocrine neoplasia, type IIA
- OMIM:162300 Multiple endocrine neoplasia, type IIB
- OMIM:610755 Multiple endocrine neoplasia, type IV
- OMIM:158345 Multiple exostoses with spastic tetraparesis
- OMIM:615554 Multiple fibroadenomas of the breast
- OMIM:254500 Multiple myeloma
- ORPHA:321 Multiple osteochondromas
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- OMIM:132800 Multiple self-healing squamous epithelioma
- ORPHA:2398 Multiple symmetric lipomatosis
- OMIM:194071 Multiple tumor-associated chromosome region 1
- OMIM:611376 Mungan syndrome
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- ORPHA:247798 MUTYH-related attenuated familial adenomatous polyposis
- OMIM:254200 Myasthenia gravis
- OMIM:159400 Myasthenia, limb-girdle, autoimmune
- OMIM:254400 Mycosis fungoides
- OMIM:600080 Myelocytic leukemia-like syndrome, familial, chronic
- OMIM:252270 Myelodysplasia and leukemia syndrome with monosomy 7
- OMIM:614286 Myelodysplastic syndrome
- ORPHA:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
- OMIM:254450 Myelofibrosis with myeloid metaplasia, somatic
- OMIM:254700 Myeloproliferative disease, autosomal recessive
- OMIM:131440 Myeloproliferative disorder, chronic, with eosinophilia
- OMIM:159595 Myeloproliferative syndrome, transient
- OMIM:616871 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
- OMIM:615293 Myofibromatosis, infantile 2
- OMIM:228550 Myofibromatosis, infantile, 1
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:613488 Myxoid liposarcoma
- OMIM:255960 Myxoma, intracardiac
- ORPHA:251643 Myxopapillary ependymoma
Code pathologie
Nom de la pathologie
- ORPHA:2608 N syndrome
- OMIM:310465 N syndrome
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:167730 Nasopalpebral lipoma-coloboma syndrome
- OMIM:607107 Nasopharyngeal carcinoma
- OMIM:161550 Nasopharyngeal carcinoma
- OMIM:617075 Nasopharyngeal carcinoma, susceptibility to, 3
- ORPHA:2770 Nasu-Hakola disease
- ORPHA:168572 Native American myopathy
- ORPHA:542592 Necrobiosis lipoidica
- ORPHA:199244 Nelson syndrome
- ORPHA:654 Nephroblastoma
- OMIM:256370 Nephrotic syndrome, type 4
- OMIM:182940 Neural tube defects, susceptibility to
- ORPHA:635 Neuroblastoma
- OMIM:256700 Neuroblastoma, susceptibility to
- OMIM:613013 Neuroblastoma, susceptibility to, 2
- ORPHA:2481 Neurocutaneous melanocytosis
- OMIM:249400 Neurocutaneous melanosis, somatic
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:619908 Neurodevelopmental disorder with language delay and seizure
- OMIM:603641 Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
- ORPHA:100079 Neuroendocrine neoplasm of appendix
- ORPHA:100082 Neuroendocrine tumor of anal canal
- ORPHA:100075 Neuroendocrine tumor of stomach
- ORPHA:100080 Neuroendocrine tumor of the colon
- ORPHA:100081 Neuroendocrine tumor of the rectum
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:252183 Neurofibroma
- OMIM:101000 Neurofibromatosis, type II
- OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral
- OMIM:162240 Neurofibromatosis-Pheochromocytoma-Duodenal carcinoid syndrome
- OMIM:607847 Neutropenia, nonimmune chronic idiopathic, of adults
- OMIM:610738 Neutropenia, severe congenital 3, autosomal recessive
- OMIM:202700 Neutropenia, severe congenital, 1, autosomal dominant
- OMIM:162830 Neutrophilia, hereditary
- ORPHA:64754 Nevus comedonicus syndrome
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- ORPHA:263665 NK-cell enteropathy
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:94080 Non-functioning paraganglioma
- ORPHA:141179 Non-involuting congenital hemangioma
- OMIM:163950 Noonan syndrome 1
- OMIM:618624 Noonan syndrome 12
- OMIM:605275 Noonan syndrome 2
- OMIM:609942 Noonan syndrome 3
- OMIM:613224 Noonan syndrome 6
- OMIM:613706 Noonan syndrome 7
- ORPHA:500 Noonan syndrome with multiple lentigines
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:649 Norrie disease
- ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis
- ORPHA:443167 NUT midline carcinoma
Code pathologie
Nom de la pathologie
- ORPHA:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- ORPHA:398156 Oculoauriculofrontonasal syndrome
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:55 Oculocutaneous albinism
- ORPHA:352731 Oculocutaneous albinism type 1
- ORPHA:79431 Oculocutaneous albinism type 1A
- ORPHA:79434 Oculocutaneous albinism type 1B
- ORPHA:79432 Oculocutaneous albinism type 2
- ORPHA:79435 Oculocutaneous albinism type 4
- OMIM:164330 Odontoma-Dysphagia syndrome
- ORPHA:2724 Odontomatosis-aortae esophagus stenosis syndrome
- OMIM:608615 Oligodontia-colorectal cancer syndrome
- ORPHA:296 Ollier disease
- ORPHA:39041 Omenn syndrome
- OMIM:258315 Omodysplasia 1
- OMIM:553000 Oncocytoma
- ORPHA:352540 Oncogenic osteomalacia
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- ORPHA:2086 Optic pathway glioma
- ORPHA:357154 Oral submucous fibrosis
- OMIM:311200 Orofaciodigital syndrome I
- OMIM:258860 Orofaciodigital syndrome IV
- OMIM:258865 Orofaciodigital syndrome IX
- ORPHA:2750 Orofaciodigital syndrome type 1
- ORPHA:434179 Orofaciodigital syndrome type 14
- ORPHA:2751 Orofaciodigital syndrome type 2
- ORPHA:2752 Orofaciodigital syndrome type 3
- ORPHA:2753 Orofaciodigital syndrome type 4
- ORPHA:2754 Orofaciodigital syndrome type 6
- OMIM:174300 Orofaciodigital syndrome V
- OMIM:277170 Orofaciodigital syndrome VI
- OMIM:300484 Orofaciodigital syndrome VIII
- OMIM:615948 Orofaciodigital syndrome XIV
- OMIM:617563 Orofaciodigital syndrome XVI
- OMIM:165660 Oslam syndrome
- ORPHA:2760 OSLAM syndrome
- ORPHA:73230 Ossification anomalies-psychomotor developmental delay syndrome
- ORPHA:666 Osteogenesis imperfecta
- OMIM:259650 Osteoma of middle ear
- OMIM:166400 Osteomas of mandible
- OMIM:259500 Osteosarcoma
- ORPHA:2791 Otodental syndrome
- OMIM:167000 Ovarian cancer
- ORPHA:314473 Ovarian fibroma
- OMIM:166970 Ovarian fibromata
- ORPHA:314478 Ovarian fibrothecoma
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:2309 Pachyonychia congenita
- OMIM:167210 Pachyonychia congenita 2
- OMIM:615728 Pachyonychia congenita 4
- OMIM:167250 Paget disease of bone 3
- OMIM:167300 Paget disease, extramammary
- ORPHA:1993 Pai syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:146510 Pallister-Hall syndrome
- OMIM:615225 Palmoplantar carcinoma, multiple self-healing
- OMIM:610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- ORPHA:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome
- ORPHA:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- OMIM:260350 Pancreatic cancer
- OMIM:606856 Pancreatic cancer, susceptibility to, 1
- OMIM:613347 Pancreatic cancer, susceptibility to, 2
- OMIM:618680 Pancreatic cancer, susceptibility to, 5
- ORPHA:2807 Papilloma of choroid plexus
- ORPHA:678 Papillon-Lefèvre syndrome
- OMIM:168000 Paragangliomas 1
- OMIM:601650 Paragangliomas 2
- OMIM:605373 Paragangliomas 3
- OMIM:115310 Paragangliomas 4
- OMIM:614165 Paragangliomas 5
- OMIM:618464 Paragangliomas 6
- OMIM:618475 Paragangliomas 7
- ORPHA:63455 Paraneoplastic pemphigus
- OMIM:608266 Parathyroid carcinoma
- ORPHA:143 Parathyroid carcinoma
- ORPHA:90307 Parkes Weber syndrome
- ORPHA:90797 Partial androgen insensitivity syndrome
- ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome
- OMIM:169545 Pelvic lipomatosis with crossed renal ectopia
- ORPHA:79481 Pemphigus foliaceus
- ORPHA:705 Pendred syndrome
- OMIM:274600 Pendred syndrome
- ORPHA:370348 Peripheral primitive neuroectodermal tumor
- ORPHA:168816 Peritoneal cystic mesothelioma
- OMIM:267000 Perlman syndrome
- ORPHA:2849 Perlman syndrome
- ORPHA:2869 Peutz-Jeghers syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- ORPHA:443811 PGM3-CDG
- OMIM:606519 PHACE association
- ORPHA:42775 PHACE syndrome
- ORPHA:2874 Phakomatosis pigmentokeratotica
- OMIM:171300 PHEOCHROMOCYTOMA
- OMIM:171420 Pheochromocytoma-Islet cell tumor syndrome
- OMIM:172800 Piebald trait
- ORPHA:2885 Piebald trait-neurologic defects syndrome
- ORPHA:2884 Piebaldism
- ORPHA:91414 Pilomatrixoma
- OMIM:132600 Pilomatrixoma, somatic
- ORPHA:251909 Pineoblastoma
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:300943 Pituitary adenoma 2, GH-secreting
- OMIM:219090 Pituitary adenoma 4, ACTH-secreting, somatic
- OMIM:617540 Pituitary adenoma 5, multiple types
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- ORPHA:95613 Pituitary apoplexy
- ORPHA:300385 Pituitary carcinoma
- ORPHA:91354 Pituitary deficiency due to empty sella turcica syndrome
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- ORPHA:99725 Pituitary gigantism
- ORPHA:2897 Pityriasis rubra pilaris
- OMIM:601399 Platelet disorder, familial, with associated myeloid malignancy
- OMIM:173420 Platelet disorder, undefined
- ORPHA:99969 Pleomorphic liposarcoma
- OMIM:601200 Pleuropulmonary blastoma
- ORPHA:723 Pneumocystosis
- ORPHA:2905 POEMS syndrome
- ORPHA:2911 Poland syndrome
- OMIM:600273 Polycystic kidney disease, infantile severe, with tuberous sclerosis
- ORPHA:729 Polycythemia vera
- ORPHA:180229 Polyembryoma
- ORPHA:447877 Polymerase proofreading-related adenomatous polyposis
- ORPHA:732 Polymyositis
- ORPHA:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
- OMIM:175505 Polyposis of gastric fundus without polyposis coli
- OMIM:610069 Polyposis syndrome, hereditary mixed, 2
- OMIM:175020 Polyposis, gastric
- OMIM:175400 Polyposis, intestinal, scattered and discrete
- OMIM:175450 Polyposis, intestinal, with multiple exostoses
- OMIM:175500 Polyposis, skin pigmentation, alopecia, and fingernail changes
- ORPHA:79358 Porokeratosis
- ORPHA:101330 Porphyria cutanea tarda
- OMIM:176100 Porphyria cutanea tarda
- ORPHA:100924 Porphyria due to ALA dehydratase deficiency
- ORPHA:79473 Porphyria variegata
- OMIM:176000 Porphyria, acute intermittent
- ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- OMIM:619463 Portal hypertension, noncirrhotic, 2
- OMIM:601224 Potocki-Shaffer syndrome
- ORPHA:52022 Potocki-Shaffer syndrome
- ORPHA:97278 PPoma
- OMIM:601811 Premature aging syndrome, Okamoto type
- OMIM:615723 Premature ovarian failure 8
- ORPHA:186 Primary biliary cholangitis
- ORPHA:48686 Primary effusion lymphoma
- ORPHA:90026 Primary erythromelalgia
- ORPHA:100085 Primary hepatic neuroendocrine carcinoma
- ORPHA:90362 Primary intestinal lymphangiectasia
- ORPHA:824 Primary myelofibrosis
- ORPHA:168829 Primary peritoneal carcinoma
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- ORPHA:171 Primary sclerosing cholangitis
- ORPHA:289390 Primary Sjögren syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- ORPHA:172 Progressive familial intrahepatic cholestasis
- ORPHA:217260 Progressive multifocal leukoencephalopathy
- ORPHA:100070 Progressive non-fluent aphasia
- ORPHA:2062 Progressive non-infectious anterior vertebral fusion
- ORPHA:2762 Progressive osseous heteroplasia
- ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- OMIM:176807 Prostate cancer
- OMIM:601518 Prostate cancer, hereditary, 1
- OMIM:300147 Prostate cancer, hereditary, X-linked 1
- OMIM:603688 Prostate cancer/brain cancer susceptibility
- ORPHA:744 Proteus syndrome
- OMIM:176920 Proteus syndrome, somatic
- ORPHA:2969 Proteus-like syndrome
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- OMIM:264475 Pseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies
- ORPHA:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis
- ORPHA:306498 PTEN hamartoma tumor syndrome
- ORPHA:60039 Pudendal neuralgia
- ORPHA:64741 Pulmonary blastoma
- ORPHA:199241 Pulmonary capillary hemangiomatosis
- OMIM:614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- OMIM:614743 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
- OMIM:619767 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
- OMIM:178500 Pulmonary fibrosis, idiopathic
- OMIM:234810 Pulmonary venoocclusive disease 2
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
- ORPHA:760 Purine nucleoside phosphorylase deficiency
- ORPHA:48104 Pyoderma gangrenosum
- ORPHA:764 Pyomyositis
- ORPHA:765 Pyruvate dehydrogenase deficiency
Code pathologie
Nom de la pathologie
- OMIM:619312 Radio-Tartaglia syndrome
- OMIM:266270 Ramon syndrome
- ORPHA:3019 Ramon syndrome
- ORPHA:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- ORPHA:141184 Rapidly involuting congenital hemangioma
- ORPHA:98028 Rare circulatory system disease
- OMIM:614470 RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic
- ORPHA:79409 Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency
- ORPHA:60032 Recurrent respiratory papillomatosis
- ORPHA:98826 Refractory anemia
- ORPHA:86839 Refractory anemia with excess blasts
- ORPHA:398063 Refractory celiac disease
- OMIM:144700 Renal cell carcinoma, nonpapillary
- OMIM:605074 Renal cell carcinoma, papillary, 1, familial and somatic
- OMIM:300854 Renal cell carcinoma, xp11-associated
- OMIM:618803 Respiratory papillomatosis, juvenile recurrent, congenital
- OMIM:267730 Reticulum cell sarcoma
- ORPHA:71213 Retinal capillary malformation
- OMIM:180200 RETINOBLASTOMA
- ORPHA:790 Retinoblastoma
- ORPHA:69077 Rhabdoid tumor
- OMIM:609322 Rhabdoid tumor predisposition syndrome 1
- OMIM:613325 Rhabdoid tumor predisposition syndrome 2
- OMIM:268210 Rhabdomyosarcoma 1
- OMIM:268220 Rhabdomyosarcoma 2, alveolar
- OMIM:180295 Rhabdomyosarcoma, embryonal, 2
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:96176 Ring chromosome 13 syndrome
- ORPHA:1446 Ring chromosome 22 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- ORPHA:261529 Ring chromosome Y syndrome
- ORPHA:3103 Roberts syndrome
- OMIM:268300 Roberts syndrome
- OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly
- ORPHA:529 Roch-Leri mesosomatous lipomatosis
- OMIM:180730 Rombo syndrome
- ORPHA:2909 Rothmund-Thomson syndrome
- OMIM:268400 Rothmund-Thomson syndrome
- ORPHA:221008 Rothmund-Thomson syndrome type 1
- ORPHA:221016 Rothmund-Thomson syndrome type 2
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- ORPHA:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations
- ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- OMIM:616200 Ruijs-Aalfs syndrome
Code pathologie
Nom de la pathologie
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:600145 Sacral defect with anterior meningocele
- OMIM:101400 Saethre-Chotzen syndrome
- ORPHA:300493 Sagliker syndrome
- OMIM:181030 Salivary gland adenoma, pleomorphic
- ORPHA:793 SAPHO syndrome
- OMIM:300813 Sarcoma, synovial
- OMIM:269000 Sc phocomelia syndrome
- ORPHA:3134 SCARF syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- OMIM:163200 Schimmelpenning-Feuerstein-Mims syndrome
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:37748 Schnitzler syndrome
- OMIM:224750 Schopf-Schulz-Passarge syndrome
- OMIM:162091 Schwannomatosis
- OMIM:615670 Schwannomatosis 2
- ORPHA:800 Schwartz-Jampel syndrome
- ORPHA:50944 Schöpf-Schulz-Passarge syndrome
- ORPHA:801 Scleroderma
- ORPHA:167635 Scleromyxedema
- ORPHA:841 Sebocystomatosis
- ORPHA:90363 Secondary intestinal lymphangiectasia
- ORPHA:399180 Secondary non-traumatic avascular necrosis
- ORPHA:99857 Secondary syringomyelia
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:331235 Selective IgM deficiency
- ORPHA:79411 Self-improving dystrophic epidermolysis bullosa
- ORPHA:157798 Serrated polyposis syndrome
- OMIM:617108 Sessile serrated polyposis cancer syndrome
- ORPHA:140896 Severe acute respiratory syndrome
- ORPHA:275 Severe combined immunodeficiency due to DCLRE1C deficiency
- OMIM:102700 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- ORPHA:3162 Sézary syndrome
- OMIM:165800 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- ORPHA:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- ORPHA:811 Shwachman-Diamond syndrome
- OMIM:260400 Shwachman-Diamond syndrome 1
- OMIM:180860 Silver-Russell syndrome 1
- ORPHA:91139 Simple cryoglobulinemia
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- OMIM:156610 Skin creases, congenital symmetric circumferential, 1
- OMIM:182280 Small cell cancer of the lung
- ORPHA:284400 Small cell carcinoma of the bladder
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:2126 Solitary fibrous tumor/hemangiopericytoma
- ORPHA:314769 Somatomammotropinoma
- ORPHA:97283 Somatostatinoma
- ORPHA:821 Sotos syndrome
- OMIM:617475 Specific granule deficiency 2
- ORPHA:53721 Spinal arteriovenous metameric syndrome
- ORPHA:573278 Split cord malformation
- ORPHA:536471 Spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:1855 Spondyloenchondrodysplasia
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- ORPHA:424019 Squamous cell carcinoma of the anal canal
- ORPHA:99977 Squamous cell carcinoma of the esophagus
- OMIM:275355 Squamous cell carcinoma, head and neck
- OMIM:184500 Steatocystoma multiplex
- OMIM:184510 Steatocystoma multiplex with natal teeth
- OMIM:185050 Storage pool platelet disease
- OMIM:185300 Sturge-Weber syndrome
- ORPHA:3205 Sturge-Weber syndrome
- ORPHA:48377 Subcorneal pustular dermatosis
- ORPHA:251639 Subependymoma
- ORPHA:247245 Superficial siderosis
- ORPHA:3243 Sweet syndrome
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
- ORPHA:84064 Syndromic diarrhea
- ORPHA:281090 Syndromic recessive X-linked ichthyosis
- ORPHA:188 Systemic capillary leak syndrome
- ORPHA:98849 Systemic mastocytosis with associated hematologic neoplasm
- ORPHA:90291 Systemic sclerosis
Code pathologie
Nom de la pathologie
- ORPHA:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency
- OMIM:614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS
- OMIM:618398 T-cell lymphoma, subcutaneous panniculitis-like
- ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome
- ORPHA:404443 Tatton-Brown-Rahman syndrome
- ORPHA:284227 TEMPI syndrome
- OMIM:166950 Teratoma, ovarian
- OMIM:273120 Teratoma, pineal
- OMIM:300244 Terminal osseous dysplasia
- ORPHA:88630 Terminal osseous dysplasia-pigmentary defects syndrome
- OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- OMIM:300228 Testicular germ cell tumor 1
- OMIM:273300 Testicular tumor, somatic
- ORPHA:3309 Tetrasomy 5p
- ORPHA:3310 Tetrasomy 9p
- OMIM:617107 Thauvin-Robinet-Faivre syndrome
- ORPHA:99868 Thymic carcinoma
- ORPHA:97289 Thymic neuroendocrine tumor
- ORPHA:100100 Thymic tumor
- ORPHA:99867 Thymoma
- OMIM:274230 Thymoma, familial
- OMIM:188550 Thyroid cancer, nonmedullary, 1
- OMIM:188470 Thyroid cancer, nonmedullary, 2
- OMIM:606240 Thyroid cancer, nonmedullary, 3
- OMIM:616534 Thyroid cancer, nonmedullary, 4
- OMIM:616535 Thyroid cancer, nonmedullary, 5
- OMIM:155240 Thyroid carcinoma, familial medullary
- OMIM:274700 Thyroid hormonogenesis, genetic defect in, 3
- ORPHA:97285 Thyroid lymphoma
- OMIM:618971 Tolchin-Le Caignec syndrome
- ORPHA:861 Treacher-Collins syndrome
- ORPHA:3353 Trichodermodysplasia-dental alterations syndrome
- OMIM:601606 Trichoepithelioma, multiple familial, 1
- ORPHA:502 Trichorhinophalangeal syndrome type 2
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- OMIM:601675 Trichothiodystrophy 1, photosensitive
- OMIM:616395 Trichothiodystrophy 3, photosensitive
- ORPHA:221091 Trigeminal neuralgia
- ORPHA:3378 Trisomy 13
- ORPHA:264450 Trisomy 8p
- OMIM:608189 Tropical calcific pancreatitis
- ORPHA:103918 Tropical pancreatitis
- ORPHA:805 Tuberous sclerosis complex
- OMIM:191100 Tuberous sclerosis-1
- OMIM:613254 Tuberous sclerosis-2
- ORPHA:1063 Tufted angioma
- OMIM:614327 Tumor predisposition syndrome
- OMIM:619975 Tumor predisposition syndrome 2
- ORPHA:99818 Turcot syndrome with polyposis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- OMIM:148500 Tylosis with esophageal cancer
- ORPHA:882 Tyrosinemia type 1
- OMIM:276700 Tyrosinemia, type I
Code pathologie
Nom de la pathologie
- ORPHA:52056 Ulnar/fibula ray defect-brachydactyly syndrome
- ORPHA:98827 Unclassified myelodysplastic syndrome
- ORPHA:2023 Undifferentiated pleomorphic sarcoma
- ORPHA:3408 Upington disease
- OMIM:191520 Upington disease
- ORPHA:488 Urachal cyst
- OMIM:191600 Ureter, cancer of
- OMIM:600630 UV-sensitive syndrome 1
- ORPHA:39044 Uveal melanoma
- OMIM:606660 Uveal melanoma, susceptibility to, 1
Code pathologie
Nom de la pathologie
- ORPHA:887 VACTERL/VATER association
- OMIM:615688 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
- ORPHA:464318 Verrucous hemangioma
- OMIM:618223 Vertebral anomalies and variable endocrine and T-cell dysfunction
- OMIM:301054 VEXAS syndrome, somatic
- ORPHA:97282 VIPoma
- OMIM:619350 Visceral myopathy 2
- OMIM:619472 VISS syndrome
- ORPHA:892 Von Hippel-Lindau disease
- OMIM:193300 von Hippel-Lindau syndrome
Code pathologie
Nom de la pathologie
- OMIM:612469 WAGRO syndrome
- ORPHA:33226 Waldenström macroglobulinemia
- OMIM:618175 Warburg-Cinotti syndrome
- ORPHA:69745 Warty dyskeratoma
- OMIM:193520 Watson syndrome
- ORPHA:902 Werner syndrome
- OMIM:277700 Werner syndrome
- OMIM:193670 Whim syndrome
- ORPHA:51636 WHIM syndrome
- OMIM:194070 Wilms tumor 1
- OMIM:194090 Wilms tumor 3
- OMIM:601363 Wilms tumor 4
- OMIM:601583 Wilms tumor 5
- OMIM:616806 Wilms tumor 6
- OMIM:194072 Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome
- OMIM:277900 Wilson disease
- ORPHA:906 Wiskott-Aldrich syndrome
- OMIM:301000 Wiskott-Aldrich syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- OMIM:194350 Wt limb-blood syndrome
Code pathologie
Nom de la pathologie
- ORPHA:300373 X-linked acrogigantism
- ORPHA:47 X-linked agammaglobulinemia
- ORPHA:1018 X-linked Alport syndrome-diffuse leiomyomatosis
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:85276 X-linked intellectual disability, Armfield type
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- ORPHA:2442 X-linked lymphoproliferative disease
- ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- ORPHA:54 X-linked recessive ocular albinism
- ORPHA:910 Xeroderma pigmentosum
- ORPHA:90342 Xeroderma pigmentosum variant
- OMIM:278700 Xeroderma pigmentosum, complementation group A
- OMIM:610651 Xeroderma pigmentosum, complementation group B
- OMIM:278720 Xeroderma pigmentosum, complementation group C
- OMIM:278730 Xeroderma pigmentosum, complementation group D
- OMIM:278740 Xeroderma pigmentosum, complementation group E
- OMIM:278760 Xeroderma pigmentosum, complementation group F
- OMIM:278750 Xeroderma pigmentosum, Variant type
- ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex
- ORPHA:314389 Xq12-q13.3 duplication syndrome
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
Gènes associés :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Nom du gène
- AAGAB
- ABCA5
- ABCB11
- ABCB4
- ABCC8
- ABCD1
- ABL1
- ACAN
- ACD
- ACP5
- ACTB
- ACTG2
- ACVR1
- ACVRL1
- ADA
- ADA2
- ADAMTS3
- ADAR
- ADH5
- AGGF1
- AHCY
- AIP
- AKT1
- ALAD
- ALG5
- ALG9
- ALK
- ALX1
- ALX3
- ALX4
- ANAPC1
- ANTXR1
- ANTXR2
- AP2S1
- AP3D1
- APC
- APC2
- APPL1
- ARHGAP26
- ARID1A
- ARID1B
- ARID2
- ARL6IP6
- ARMC5
- ARSA
- ASCC1
- ASCL1
- ASPSCR1
- ASXL1
- ATM
- ATP2A2
- ATP2B1
- ATP6V1B2
- ATP7A
- ATP7B
- ATR
- ATRX
- AURKA
- AXIN1
- AXIN2
Nom du gène
Nom du gène
- C1S
- C2CD3
- CACNA1S
- CALR
- CARD14
- CARMIL2
- CARS1
- CASP10
- CASP8
- CASR
- CASZ1
- CAT
- CBL
- CC2D2A
- CCBE1
- CCDC22
- CCL2
- CCM2
- CCND1
- CD19
- CD27
- CD28
- CD4
- CD70
- CD79A
- CD79B
- CD81
- CD96
- CDC73
- CDH1
- CDH23
- CDK4
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2A
- CDKN2B
- CDKN2C
- CDON
- CEBPA
- CEL
- CEP57
- CHD7
- CHEK2
- CHIC2
- CHMP2B
- CHRNG
- CIB1
- CLCN2
- CLCNKB
- CLPB
- COL11A2
- COL14A1
- COL17A1
- COL18A1
- COL1A1
- COL2A1
- COL4A5
- COL4A6
- COL7A1
- CPLANE1
- CPLX1
- CPOX
- CR2
- CREB1
- CREBBP
- CRKL
- CSF3R
- CTBP1
- CTC1
- CTHRC1
- CTLA4
- CTNNB1
- CTPS1
- CTRC
- CTSA
- CTSC
- CXCR4
- CYLD
- CYP11B1
- CYP11B2
- CYP26C1
- CYP2A6
- CYP2D6
- CYSLTR2
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
- MAD1L1
- MAD2L2
- MAFA
- MAGT1
- MALT1
- MAN2C1
- MAP2K1
- MAP2K2
- MAP3K1
- MAP3K8
- MAPK1
- MAPRE2
- MAPT
- MAX
- MBD4
- MBTPS2
- MC1R
- MC2R
- MCC
- MCM4
- MDH2
- MDM2
- MDM4
- MEFV
- MEG3
- MEN1
- MET
- MFN2
- MGAT2
- MGMT
- MINPP1
- MITF
- MLH1
- MLH3
- MLLT10
- MMEL1
- MMP1
- MMP23B
- MN1
- MNX1
- MPL
- MPLKIP
- MPV17
- MRAP
- MRE11
- MS4A1
- MSH2
- MSH3
- MSH6
- MSL3
- MSR1
- MST1
- MST1R
- MSTO1
- MSX2
- MT-ND5
- MT-RNR1
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TP
- MT-TQ
- MT-TS1
- MT-TS2
- MTAP
- MTMR14
- MTOR
- MUC5B
- MUTYH
- MVD
- MVK
- MXI1
- MYC
- MYCN
- MYD88
- MYF6
- MYH11
- MYH8
- MYLK
- MYO1H
- MYSM1
Nom du gène
Nom du gène
- PAK2
- PALB2
- PALLD
- PARN
- PAX3
- PAX4
- PAX6
- PAX7
- PBRM1
- PCGF2
- PCNA
- PDCD10
- PDE11A
- PDE6D
- PDE8B
- PDGFB
- PDGFRA
- PDGFRB
- PDGFRL
- PDPN
- PDX1
- PERP
- PGM3
- PHB1
- PHF21A
- PHKA2
- PHKB
- PHKG2
- PICALM
- PIEZO2
- PIGG
- PIGL
- PIK3CA
- PIK3R1
- PKD1
- PKD2
- PKHD1
- PLA2G2A
- PLAG1
- PLCB4
- PLCD1
- PMS1
- PMS2
- PNP
- POFUT1
- POGLUT1
- POLD1
- POLE
- POLH
- POLR1B
- POLR1C
- POLR1D
- POR
- PORCN
- POT1
- POU2AF1
- POU6F2
- PPM1D
- PPOX
- PPP1CB
- PPP2R1B
- PRCC
- PRDM16
- PRF1
- PRKACA
- PRKACB
- PRKAR1A
- PRKCD
- PRKCZ
- PRKN
- PRLR
- PSAP
- PSEN1
- PSENEN
- PTCH1
- PTCH2
- PTEN
- PTH1R
- PTPN11
- PTPN12
- PTPN3
- PTPRC
- PTPRJ
- PUF60
- PYGL
Nom du gène
- RABL3
- RAD21
- RAD50
- RAD51
- RAD51C
- RAD51D
- RAD54B
- RAD54L
- RAF1
- RAG1
- RAG2
- RARA
- RASA1
- RASGRP1
- RB1
- RB1CC1
- RECQL4
- RELA
- RERE
- REST
- RET
- RFWD3
- RHBDF2
- RHOH
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASEL
- RNF113A
- RNF139
- RNF43
- RNF6
- RNU7-1
- RPA1
- RPGRIP1L
- RPL10
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS14
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS7
- RRAS2
- RSPO1
- RSPRY1
- RTEL1
- RTL1
- RUNX1
- RYR1
Nom du gène
- SAMD9
- SAMD9L
- SAMHD1
- SASH1
- SASH3
- SBDS
- SCN10A
- SCN11A
- SCN4A
- SCN9A
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23A
- SEC23B
- SEMA3C
- SEMA3D
- SEMA4A
- SEMA4D
- SERPINA1
- SETBP1
- SETD2
- SF3B1
- SFTPA2
- SFTPC
- SH2B3
- SH2D1A
- SH3GL1
- SH3KBP1
- SHH
- SHOC2
- SIX1
- SIX3
- SIX6
- SKI
- SKIC2
- SKIC3
- SLC12A3
- SLC17A9
- SLC22A18
- SLC25A11
- SLC25A13
- SLC26A2
- SLC26A4
- SLC2A2
- SLC37A4
- SLC45A2
- SLC6A17
- SLCO2A1
- SLX4
- SMAD4
- SMAD7
- SMARCA4
- SMARCAD1
- SMARCAL1
- SMARCB1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCE1
- SMO
- SMPD1
- SNAI2
- SOCS1
- SOS1
- SOX11
- SOX2
- SOX4
- SOX6
- SOX9
- SPEN
- SPIB
- SPINK1
- SPRED1
- SPRTN
- SPTBN1
- SQSTM1
- SRC
- SRD5A3
- SREBF1
- SRGAP1
- SRP54
- SRP72
- SRSF2
- SRY
- SSX1
- SSX2
- STAC3
- STAG3
- STAR
- STAT1
- STAT3
- STAT6
- STIM1
- STK11
- STK4
- STS
- SUFU
- SYK
Nom du gène
- TAF1
- TAF15
- TAL1
- TAL2
- TARS1
- TBC1D24
- TBX2
- TBXT
- TCF3
- TCF4
- TCIRG1
- TCOF1
- TCTN3
- TDGF1
- TEK
- TERC
- TERF2IP
- TERT
- TET2
- TFAP2A
- TFE3
- TG
- TGFBR1
- TGFBR2
- TGIF1
- THPO
- TIAM1
- TINF2
- TJP2
- TLR2
- TMC6
- TMC8
- TMEM106B
- TMEM107
- TMEM127
- TMEM216
- TMEM231
- TMEM67
- TNFRSF10B
- TNFRSF13B
- TNFRSF13C
- TNFRSF1B
- TNFRSF4
- TNFSF12
- TNFSF15
- TNPO3
- TOM1
- TOP2A
- TOPORS
- TP53
- TP63
- TPP2
- TRAF7
- TREM2
- TREX1
- TRIM28
- TRIM37
- TRIP13
- TRPS1
- TRPV3
- TSC1
- TSC2
- TSR2
- TTC7A
- TUBB
- TULP3
- TWIST1
- TXNRD2
- TYMS
- TYR
- TYROBP
Nom du gène
Division Internationale
Lundi-Vendredi : 8h30 - 18h30
Tél : +33 4 72 80 23 85
Contact par email
Tél : +33 4 72 80 23 85
Contact par email
