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Abnormality of the breast
Code Aire thérapeutique (HPO) :
HP:0000769Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- OMIM:617698 3-methylglutaconic aciduria, type IX
- ORPHA:7 3C syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- ORPHA:1621 3q13 microdeletion syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- OMIM:619959 ACCES syndrome
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:963 Acromegaly
- OMIM:200980 Acrorenal-Mandibular syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:175100 Adenomatous polyposis coli
- ORPHA:404448 ADNP syndrome
- OMIM:202110 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- ORPHA:978 ADULT syndrome
- OMIM:103285 Adult syndrome
- ORPHA:3385 African trypanosomiasis
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- OMIM:612079 Alopecia, neurologic defects, and endocrinopathy syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:104600 Amenorrhea-Galactorrhea syndrome
- OMIM:300068 Androgen insensitivity syndrome
- ORPHA:157954 ANE syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:69125 Anonychia with flexural pigmentation
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- OMIM:616268 Arboleda-Tham syndrome
- ORPHA:1133 AREDYLD syndrome
- OMIM:139300 Aromatase excess syndrome
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- ORPHA:139485 Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:1272 Aymé-Gripp syndrome
Code pathologie
Nom de la pathologie
- ORPHA:79332 B4GALT1-CDG
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- OMIM:209885 Barber-Say syndrome
- ORPHA:1231 Barber-Say syndrome
- OMIM:604919 Becker nevus syndrome
- ORPHA:64755 Becker nevus syndrome
- ORPHA:252164 Benign schwannoma
- OMIM:620076 Bent bone dysplasia syndrome 2
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:110100 Blepharophimosis, epicanthus inversus, and ptosis
- ORPHA:125 Bloom syndrome
- OMIM:605039 Bohring-Opitz syndrome
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- ORPHA:93302 Brachyolmia, Maroteaux type
- ORPHA:52047 Braddock syndrome
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:114480 Breast cancer
- OMIM:604370 Breast-Ovarian cancer, familial, susceptibility to, 1
- OMIM:612555 Breast-Ovarian cancer, familial, susceptibility to, 2
- OMIM:113700 Breasts and/or nipples, aplasia or hypoplasia of, 1
- OMIM:616001 Breasts and/or nipples, aplasia or hypoplasia of, 2
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- ORPHA:33408 Bullous lichen planus
Code pathologie
Nom de la pathologie
- ORPHA:71505 Cancer-associated retinopathy
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- ORPHA:1359 Carney complex
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- OMIM:614976 Carpenter syndrome 2
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome
- OMIM:214150 Cerebrooculofacioskeletal syndrome 1
- ORPHA:46627 Char syndrome
- ORPHA:3474 CHIME syndrome
- ORPHA:1433 Choroidal atrophy-alopecia syndrome
- OMIM:612242 Chromosome 10q22.3-q23.2 deletion syndrome
- OMIM:609625 Chromosome 10q26 deletion syndrome
- OMIM:613884 Chromosome 13q14 deletion syndrome
- OMIM:614541 Chromosome 16q22 deletion syndrome
- OMIM:613776 Chromosome 17p13.1 deletion syndrome
- OMIM:146390 Chromosome 18p deletion syndrome
- OMIM:613638 Chromosome 19p13.13 deletion syndrome
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:612530 Chromosome 1q41-q42 deletion syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:158170 Chromosome 9P deletion syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome
- OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- OMIM:619325 Coffin-Siris syndrome 12
- ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- OMIM:617561 Cohen-Gibson syndrome
- OMIM:601794 Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome
- ORPHA:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:607906 Congenital disorder of glycosylation, type Ii
- OMIM:608779 Congenital disorder of glycosylation, type IIe
- OMIM:611209 Congenital disorder of glycosylation, type IIg
- OMIM:608093 Congenital disorder of glycosylation, type Ij
- OMIM:608776 Congenital disorder of glycosylation, type Il
- OMIM:612015 Congenital disorder of glycosylation, type IN
- OMIM:613661 Congenital disorder of glycosylation, type Ip
- OMIM:612379 Congenital disorder of glycosylation, type IQ
- OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency
- ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- 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
- OMIM:608227 Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- OMIM:300712 Craniofacioskeletal syndrome
- ORPHA:1520 Craniofrontonasal dysplasia
- ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome
- OMIM:304110 Craniofrontonasal syndrome
- ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- OMIM:619727 Craniotubular dysplasia, Ikegawa type
- OMIM:614564 Cutaneous telangiectasia and cancer syndrome, familial
- ORPHA:2437 Czeizel-Losonci syndrome
Code pathologie
Nom de la pathologie
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- OMIM:619004 Deeah syndrome
- ORPHA:221 Dermatomyositis
- OMIM:616708 Desanto-Shinawi syndrome
- OMIM:135290 Desmoid disease, hereditary
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- ORPHA:1916 Diethylstilbestrol syndrome
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:1745 Distal trisomy 6p
- OMIM:246200 Donohue syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Code pathologie
Nom de la pathologie
- ORPHA:2554 Ear-patella-short stature syndrome
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:614940 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- OMIM:614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- OMIM:129550 Ectodermal dysplasia with adrenal cyst
- ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- ORPHA:1896 EEC syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:251636 Ependymoma
- OMIM:617339 Epileptic encephalopathy, early infantile, 51
- OMIM:609165 Erythroderma, ichthyosiform, congenital reticular
- OMIM:265000 Escobar syndrome
- OMIM:615363 Estrogen resistance
- ORPHA:785 Estrogen resistance syndrome
Code pathologie
Nom de la pathologie
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- OMIM:227320 Faciothoracogenital syndrome
- OMIM:616415 Familial adenomatous polyposis 3
- OMIM:613399 Familial breast-ovarian cancer-1
- ORPHA:440437 Familial colorectal cancer Type X
- ORPHA:397685 Familial hyperprolactinemia
- ORPHA:618 Familial melanoma
- ORPHA:1333 Familial pancreatic carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:2456 Familial supernumerary nipples
- OMIM:617883 Fanconi anemia, complementation group S
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:3255 Filippi syndrome
- OMIM:305600 Focal dermal hypoplasia
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- OMIM:605321 Frontoocular syndrome
- ORPHA:2059 Fryns syndrome
- ORPHA:91348 Functioning gonadotropic adenoma
Code pathologie
Nom de la pathologie
- ORPHA:506358 Gabriele-de Vries syndrome
- OMIM:230300 GALACTORRHEA
- OMIM:230740 Gapo syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- OMIM:619985 Glycosylphosphatidylinositol biosynthesis defect 25
- OMIM:609460 Goldberg-Shprintzen syndrome
- ORPHA:73273 Growth delay due to insulin-like growth factor I resistance
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- ORPHA:145 Hereditary breast and ovarian cancer syndrome
- ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- OMIM:144800 Hyperostosis frontalis interna
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:615555 HYPERPROLACTINEMIA
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:241100 Hypogonadism, malehypogonadism and testicular atrophy, included
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:308700 Hypogonadotropic hypogonadism 1 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:228300 Hypogonadotropic hypogonadism 23 without anosmia
- OMIM:146110 Hypogonadotropic hypogonadism 7 without anosmia
- OMIM:614837 Hypogonadotropic hypogonadism 8 with or without anosmia
- OMIM:614838 Hypogonadotropic hypogonadism 9 with or without anosmia
- ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:238468 Hypohidrotic ectodermal dysplasia
- ORPHA:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy
- OMIM:240900 Hypoinsulinemic hypoglycemia with hemihypertrophy
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
Code pathologie
Nom de la pathologie
- ORPHA:449395 IgG4-related kidney disease
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:616083 Intellectual developmental disorder, autosomal dominant 30
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- ORPHA:98797 Isochromosomy Yp
- ORPHA:98798 Isochromosomy Yq
- ORPHA:52901 Isolated follicle stimulating hormone deficiency
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- OMIM:613707 Leopard syndrome 3
- ORPHA:508 Leprechaunism
- ORPHA:548 Leprosy
- OMIM:614962 Leptin deficiency or dysfunction
- 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
- OMIM:603543 Limb-Mammary syndrome
- ORPHA:69085 Limb-mammary syndrome
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- OMIM:616212 Lissencephaly 6, with microcephaly
Code pathologie
Nom de la pathologie
- OMIM:247990 Macdermot-Winter syndrome
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:163634 Maffucci syndrome
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- OMIM:613689 Mammary-Digital-Nail syndrome
- ORPHA:397941 MAN1B1-CDG
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- OMIM:212720 Martsolf syndrome 1
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- ORPHA:562 McCune-Albright syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:613804 Meier-Gorlin syndrome 4
- OMIM:617063 Meier-Gorlin syndrome 7
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300354 Mental retardation, X-linked, syndromic, Cabezas type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- OMIM:300860 Mental retardation, X-linked, syndromic, Nascimento type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- ORPHA:79329 MGAT2-CDG
- ORPHA:319675 Microcephalic primordial dwarfism, Dauber type
- ORPHA:2617 Microcephalic primordial dwarfism, Montreal type
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- ORPHA:570 Moebius syndrome
- ORPHA:1598 Monosomy 18p
- ORPHA:261112 Monosomy 9p
- ORPHA:99226 Monosomy X
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1724 Mosaic trisomy 20
- OMIM:235730 Mowat-Wilson syndrome
- OMIM:252500 Mucolipidosis II alpha/beta
- ORPHA:587 Muir-Torre syndrome
- OMIM:158320 Muir-Torre syndrome
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- ORPHA:652 Multiple endocrine neoplasia type 1
- OMIM:615554 Multiple fibroadenomas of the breast
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
Code pathologie
Nom de la pathologie
- OMIM:608156 Nablus mask-like facial syndrome
- ORPHA:446 Neonatal hemochromatosis
- OMIM:616038 Neu-Laxova syndrome 2
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617523 Neurodevelopmental disorder with midbrain and hindbrain malformations
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:252183 Neurofibroma
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB
- ORPHA:3051 Nicolaides-Baraitser syndrome
- OMIM:163600 Nipples inverted
- OMIM:163700 Nipples, supernumerary
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:86893 Nodular lymphocyte predominant Hodgkin lymphoma
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:605275 Noonan syndrome 2
- OMIM:610733 Noonan syndrome 4
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- ORPHA:454840 NTHL1-related attenuated familial adenomatous polyposis
Code pathologie
Nom de la pathologie
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- OMIM:600268 Oculoectodermal syndrome
- OMIM:608615 Oligodontia-colorectal cancer syndrome
- ORPHA:2920 Oliver syndrome
- ORPHA:1183 Opsoclonus-myoclonus syndrome
- OMIM:617926 Orofaciodigital syndrome XVII
- OMIM:300373 Osteopathia striata with cranial sclerosis
- OMIM:167000 Ovarian cancer
Code pathologie
Nom de la pathologie
- ORPHA:2796 Pachydermoperiostosis
- ORPHA:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- OMIM:601803 Pallister-Killian syndrome
- OMIM:610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal
- ORPHA:2812 Parana hard skin syndrome
- ORPHA:90797 Partial androgen insensitivity syndrome
- ORPHA:261524 Paternal uniparental disomy of chromosome X
- ORPHA:2842 Penoscrotal transposition
- OMIM:264470 Peroxisomal acyl-CoA oxidase deficiency
- OMIM:617370 Peroxisome biogenesis disorder 10B
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- ORPHA:2869 Peutz-Jeghers syndrome
- OMIM:175200 Peutz-Jeghers syndrome
- ORPHA:487825 Pierpont syndrome
- OMIM:602342 Pierpont syndrome
- ORPHA:2896 Pitt-Hopkins syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- ORPHA:251623 Pituicytoma
- OMIM:102200 Pituitary adenoma, growth hormone-secreting, 1
- ORPHA:95613 Pituitary apoplexy
- ORPHA:91351 Pituitary dermoid and epidermoid cysts
- ORPHA:99725 Pituitary gigantism
- ORPHA:79318 PMM2-CDG
- ORPHA:2905 POEMS syndrome
- ORPHA:2911 Poland syndrome
- OMIM:173800 Poland syndrome
- ORPHA:447877 Polymerase proofreading-related adenomatous polyposis
- ORPHA:732 Polymyositis
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- ORPHA:95619 Post-traumatic pituitary deficiency
- OMIM:263750 Postaxial acrofacial dysostosis
- ORPHA:246 Postaxial acrofacial dysostosis
- ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- ORPHA:189439 Primary pigmented nodular adrenocortical disease
- OMIM:259050 Primrose syndrome
- ORPHA:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- ORPHA:2965 Prolactinoma
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:256040 Proteasome-associated autoinflammatory syndrome 1 and digenic forms
- ORPHA:221120 Pseudoaminopterin syndrome
- OMIM:264300 Pseudohermaphroditism, male, with gynecomastia
- ORPHA:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- ORPHA:306498 PTEN hamartoma tumor syndrome
- OMIM:177980 Pterygia, mental retardation, and distinctive craniofacial features
- ORPHA:79501 Punctate palmoplantar keratoderma type 1
Code pathologie
Nom de la pathologie
- OMIM:614202 Rafiq syndrome
- OMIM:129400 Rapp-Hodgkin syndrome
- ORPHA:535 Rare cutaneous lupus erythematosus
- OMIM:619695 Rauch-Steindl syndrome
- OMIM:312300 Reifenstein syndrome
- OMIM:268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism
- ORPHA:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- ORPHA:244310 RFT1-CDG
- OMIM:618019 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
- ORPHA:97229 Riboflavin transporter deficiency
- ORPHA:1438 Ring chromosome 10 syndrome
- ORPHA:1439 Ring chromosome 12 syndrome
- ORPHA:261529 Ring chromosome Y syndrome
- OMIM:180870 Ruvalcaba syndrome
Code pathologie
Nom de la pathologie
- OMIM:101400 Saethre-Chotzen syndrome
- OMIM:618804 Sandestig-Stefanova syndrome
- OMIM:181270 Scalp-Ear-Nipple syndrome
- ORPHA:2036 Scalp-ear-nipple syndrome
- ORPHA:3134 SCARF syndrome
- OMIM:312830 Scarf syndrome
- OMIM:269150 Schinzel-Giedion midface-retraction syndrome
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- ORPHA:157798 Serrated polyposis syndrome
- OMIM:305700 Sertoli cell-only syndrome
- ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- ORPHA:91355 Sheehan syndrome
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:617925 Short-Rib thoracic dysplasia 20 with polydactyly
- OMIM:614376 Short-Rib thoracic dysplasia 5 with or without polydactyly
- OMIM:269921 Sialuria
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- OMIM:156610 Skin creases, congenital symmetric circumferential, 1
- OMIM:616734 Skin creases, congenital symmetric circumferential, 2
- ORPHA:356961 SLC35A2-CDG
- ORPHA:818 Smith-Lemli-Opitz syndrome
- ORPHA:314769 Somatomammotropinoma
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- ORPHA:251639 Subependymoma
- ORPHA:3243 Sweet syndrome
- ORPHA:465508 Symptomatic form of hemochromatosis type 1
Code pathologie
Nom de la pathologie
- OMIM:272950 Teebi-Shaltout syndrome
- OMIM:619951 Tessadori-van Haaften neurodevelopmental syndrome 4
- OMIM:618021 Tetraamelia syndrome 2
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- OMIM:273400 Tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities
- OMIM:618971 Tolchin-Le Caignec syndrome
- OMIM:618268 Trichohepatoneurodevelopmental syndrome
- OMIM:275450 Trichoodontoonychial dysplasia with bone deficiency
- OMIM:150230 Trichorhinophalangeal syndrome, type II
- ORPHA:33364 Trichothiodystrophy
- ORPHA:1699 Trisomy 12p
- ORPHA:261344 Trisomy 1q
- ORPHA:261318 Trisomy 20p
- ORPHA:1738 Trisomy 4p
- ORPHA:236 Trisomy 9p
- ORPHA:91347 TSH-secreting pituitary adenoma
- OMIM:619975 Tumor predisposition syndrome 2
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:615102 Tyshchenko syndrome
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- ORPHA:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- OMIM:614222 Warburg micro syndrome 3
- OMIM:277590 Weaver syndrome
- ORPHA:902 Werner syndrome
- ORPHA:3452 Whipple disease
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- OMIM:264090 Wiedemann-Rautenstrauch syndrome
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- OMIM:309585 Wilson-Turner syndrome
- ORPHA:3459 Wilson-Turner syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- OMIM:615236 Woods syndrome
Code pathologie
Nom de la pathologie
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome
- ORPHA:261483 Xq27.3q28 duplication syndrome
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
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Nom du gène
Nom du gène
- C18orf32
- CACNA1C
- CARS1
- CASP10
- CASP8
- CBL
- CCDC141
- CCDC22
- CCDC47
- CDC45
- CDC6
- CDH1
- CDH11
- CDH2
- CDH23
- CDK13
- CDK4
- CDKN1A
- CDKN1B
- CDKN2A
- CDKN2B
- CDKN2C
- CDT1
- CERT1
- CHAMP1
- CHD7
- CHEK2
- CHRNG
- CHST3
- CILK1
- CKAP2L
- COG1
- COG7
- COL14A1
- COLEC10
- COLEC11
- COQ8A
- COX7B
- CPE
- CPLX1
- CPT2
- CSPP1
- CTBP1
- CTNNB1
- CUL4B
- CYB5A
- CYP11A1
- CYP11B1
- CYP17A1
- CYP19A1
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
Nom du gène
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