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Abnormality of the breast
Therapeutic area code (HPO):
HP:0000769Panel «Abnormality of the breast» :
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Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
Disease code
Disease name
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
Disease code
Disease name
Disease code
Disease name
- 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
Disease code
Disease name
- 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
Disease code
Disease name
Disease code
Disease name
Associated genes:
- #
- 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
Gene name
Gene name
- 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
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
International Division
Monday-Friday : 8h30 - 18h30
T. : +33 4 72 80 23 85
Contact by email
T. : +33 4 72 80 23 85
Contact by email