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Abnormality of prenatal development or birth
Therapeutic area code (HPO):
HP:0001197Panel «Abnormality of prenatal development or birth» :
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Disease code
Disease name
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:261272 17q12 microduplication syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:163693 2p21 microdeletion syndrome
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant
- ORPHA:7 3C syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
Disease code
Disease name
- OMIM:200110 Ablepharon-Macrostomia syndrome
- ORPHA:1658 Absence of fingerprints-congenital milia syndrome
- ORPHA:3016 Absent radius-anogenital anomalies syndrome
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:200610 Achondrogenesis, type II
- OMIM:100800 Achondroplasia
- ORPHA:40366 Acitretin/etretinate embryopathy
- ORPHA:958 Acro-renal-mandibular syndrome
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- ORPHA:1786 Acrofacial dysostosis, Catania type
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- OMIM:200980 Acrorenal-Mandibular syndrome
- ORPHA:974 Adams-Oliver syndrome
- OMIM:614219 Adams-Oliver syndrome 2
- ORPHA:3385 African trypanosomiasis
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- OMIM:202650 Agnathia-Otocephaly complex
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:609465 Al-Gazali syndrome
- ORPHA:79324 ALG12-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:59 Allan-Herndon-Dudley syndrome
- ORPHA:846 Alpha-thalassemia
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- ORPHA:99742 Amish lethal microcephaly
- OMIM:616000 Analbuminemia
- OMIM:224120 Anemia, congenital dyserythropoietic, type Ia
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- ORPHA:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- ORPHA:91 Aromatase deficiency
- OMIM:208000 Arterial calcification, generalized, of infancy, 1
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:619334 Arthrogryposis multiplex congenita 6
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome
- OMIM:619110 Arthrogryposis, distal, type 1C
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- ORPHA:137686 Asherman syndrome
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- ORPHA:56305 Atelosteogenesis type III
- OMIM:108720 Atelosteogenesis, type I
- ORPHA:105 Atresia of urethra
- OMIM:616580 Au-Kline syndrome
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:1027 Autosomal recessive amelia
- ORPHA:88644 Autosomal recessive ataxia, Beauce type
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:1834 Axial mesodermal dysplasia spectrum
Disease code
Disease name
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:79332 B4GALT1-CDG
- OMIM:615485 Bainbridge-Ropers syndrome
- ORPHA:1226 Bamforth-Lazarus syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:601678 Bartter syndrome, type 1, antenatal
- OMIM:241200 Bartter syndrome, type 2
- OMIM:602522 Bartter syndrome, type 4A, neonatal, with sensorineural deafness
- OMIM:613090 Bartter syndrome, type 4B, neonatal, with sensorineural deafness
- OMIM:300971 Bartter syndrome, type 5, antenatal, transient
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- ORPHA:275864 Behavioral variant of frontotemporal dementia
- OMIM:620076 Bent bone dysplasia syndrome 2
- OMIM:158810 Bethlem myopathy 1
- ORPHA:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- OMIM:617595 Birk-Landau-Perez syndrome
- ORPHA:124 Blackfan-Diamond anemia
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1263 Boomerang dysplasia
- OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- ORPHA:70589 Bronchopulmonary dysplasia
- ORPHA:1304 Brucellosis
Disease code
Disease name
- ORPHA:1308 C syndrome
- ORPHA:135 CACH syndrome
- ORPHA:1318 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:137667 Capillary malformation-arteriovenous malformation
- OMIM:212093 Cardiac valvular defect, developmental
- OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay
- ORPHA:1340 Cardiofaciocutaneous syndrome
- OMIM:115150 Cardiofaciocutaneous syndrome 1
- OMIM:615280 Cardiofaciocutaneous syndrome 4
- OMIM:613426 Cardiomyopathy, dilated, 1S
- OMIM:618052 Cardiomyopathy, familial hypertrophic 27
- OMIM:619433 Cardiomyopathy, familial restrictive, 6
- OMIM:157800 Cardiospondylocarpofacial syndrome
- OMIM:254940 Carey-Fineman-Ziter syndrome
- OMIM:255120 Carnitine palmitoyltransferase I deficiency
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- OMIM:250250 Cartilage-hair hypoplasia
- OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
- ORPHA:464343 Catastrophic antiphospholipid syndrome
- ORPHA:3027 Caudal regression syndrome
- ORPHA:597 Central core disease
- ORPHA:759 Central precocious puberty
- OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
- ORPHA:447788 Cerebral visual impairment
- OMIM:117650 Cerebrocostomandibular syndrome
- ORPHA:1394 Cerebrofaciothoracic dysplasia
- OMIM:616570 Cerebrooculofacioskeletal syndrome 3
- ORPHA:138 CHARGE syndrome
- OMIM:214800 Charge syndrome
- ORPHA:171439 Childhood-onset nemaline myopathy
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:173 Cholera
- OMIM:614972 Cholestasis, intrahepatic, of pregnancy 3
- OMIM:147480 Cholestasis, intrahepatic, of pregnancy, 1
- OMIM:617049 Cholestasis, progressive familial intrahepatic, 5
- OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant
- OMIM:215045 Chondrodysplasia, Blomstrand type
- OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal
- OMIM:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:612863 Chromosome 6q25-q25 deletion syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:215550 Circumvallate placenta syndrome
- ORPHA:287 Classical Ehlers-Danlos syndrome
- OMIM:600373 CODAS syndrome
- OMIM:616733 Coenzyme Q10 deficiency, primary, 8
- OMIM:618027 Coffin-Siris syndrome 7
- ORPHA:263487 COG5-CDG
- OMIM:614306 Cognitive impairment with or without cerebellar ataxia
- ORPHA:193 Cohen syndrome
- OMIM:616294 Cole-Carpenter syndrome 2
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- ORPHA:477774 Combined oxidative phosphorylation defect type 27
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:616794 Combined oxidative phosphorylation deficiency 28
- OMIM:610505 Combined oxidative phosphorylation deficiency 3
- OMIM:617713 Combined oxidative phosphorylation deficiency 33
- OMIM:618835 Combined oxidative phosphorylation deficiency 40
- OMIM:618838 Combined oxidative phosphorylation deficiency 41
- OMIM:618839 Combined oxidative phosphorylation deficiency 42
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619057 Combined oxidative phosphorylation deficiency 51
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:210122 Congenital alveolar capillary dysplasia
- ORPHA:86816 Congenital analbuminemia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1
- OMIM:618324 Congenital disorder of glycosylation with defective fucosylation 2
- OMIM:212065 Congenital disorder of glycosylation, type Ia
- OMIM:607143 Congenital disorder of glycosylation, type Ig
- OMIM:608104 Congenital disorder of glycosylation, type Ih
- OMIM:300896 Congenital disorder of glycosylation, type IIm
- OMIM:608540 Congenital disorder of glycosylation, type Ik
- OMIM:608776 Congenital disorder of glycosylation, type Il
- ORPHA:292 Congenital enterovirus infection
- ORPHA:79277 Congenital erythropoietic porphyria
- ORPHA:325 Congenital factor II deficiency
- ORPHA:327 Congenital factor VII deficiency
- ORPHA:330 Congenital factor XII deficiency
- ORPHA:331 Congenital factor XIII deficiency
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- ORPHA:293 Congenital herpes simplex virus infection
- ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- ORPHA:453510 Congenital insensitivity to pain with severe intellectual disability
- ORPHA:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation
- ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:75840 Congenital muscular dystrophy, Ullrich type
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency
- ORPHA:2444 Congenital pulmonary airway malformation
- ORPHA:2414 Congenital pulmonary lymphangiectasia
- ORPHA:99125 Congenital total pulmonary venous return anomaly
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:555874 Congenital tricuspid valve dysplasia
- ORPHA:860 Congenitally uncorrected transposition of the great arteries
- ORPHA:420794 Cono-spondylar dysplasia
- ORPHA:199 Cornelia de Lange syndrome
- ORPHA:3194 Corneodermatoosseous syndrome
- OMIM:122440 Corneodermatoosseous syndrome
- OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2
- OMIM:218040 Costello syndrome
- ORPHA:3071 Costello syndrome
- OMIM:613610 Cranioectodermal dysplasia 2
- OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
- ORPHA:363705 Craniofaciofrontodigital syndrome
- ORPHA:1520 Craniofrontonasal dysplasia
- ORPHA:2145 Craniosynostosis, Herrmann-Opitz type
- ORPHA:363611 CTCF-related neurodevelopmental disorder
- OMIM:219100 Cutis laxa, autosomal recessive, type IA
- OMIM:614437 Cutis laxa, autosomal recessive, type IB
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
- ORPHA:2437 Czeizel-Losonci syndrome
Disease code
Disease name
- OMIM:261515 D-bifunctional protein deficiency
- ORPHA:2962 De Barsy syndrome
- OMIM:619004 Deeah syndrome
- OMIM:619488 DEGCAGS syndrome
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:618298 Developmental and epileptic encephalopathy 70
- OMIM:301058 Developmental and epileptic encephalopathy 90
- OMIM:619340 Developmental and epileptic encephalopathy 96
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:610582 Diabetes mellitus, transient neonatal, 3
- ORPHA:1926 Diabetic embryopathy
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:608022 Diaphanospondylodysostosis
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:214700 Diarrhea 1, secretory chloride, congenital
- OMIM:618183 Diarrhea 10, protein-losing Enteropathy type
- OMIM:270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
- OMIM:616868 Diarrhea 8, secretory sodium, congenital
- ORPHA:1916 Diethylstilbestrol syndrome
- OMIM:618846 Diets-Jongmans syndrome
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:96148 Distal monosomy 10q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:3411 Double uterus-hemivagina-renal agenesis syndrome
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:1203 Duodenal atresia
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
Disease code
Disease name
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:1880 Ebstein malformation of the tricuspid valve
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- OMIM:612138 Epidermolysis bullosa simplex with pyloric atresia
- ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:226730 Epidermolysis bullosa, junctional, with pyloric atresia
- OMIM:617290 Epilepsy, early-onset, vitamin b6-dependent
- OMIM:266100 Epilepsy, pyridoxine-dependent
- OMIM:615833 Epileptic encephalopathy, early infantile, 21
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618910 Epileptic encephalopathy, early infantile, 86
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- OMIM:616854 Even-Plus syndrome
Disease code
Disease name
- OMIM:227255 Facial dysmorphism with multiple malformations
- ORPHA:99819 Familial gestational hyperthyroidism
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:603467 Fanconi anemia, complementation group F
- ORPHA:333 Farber disease
- ORPHA:2492 FATCO syndrome
- OMIM:619376 Faundes-Banka syndrome
- OMIM:164280 Feingold syndrome 1
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- OMIM:618389 Fetal akinesia deformation sequence 3
- OMIM:618393 Fetal akinesia deformation sequence 4
- OMIM:300073 Fetal akinesia syndrome, X-linked
- OMIM:619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
- ORPHA:853 Fetal and neonatal alloimmune thrombocytopenia
- OMIM:613630 Fetal encasement syndrome
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:93932 FG syndrome type 1
- OMIM:228520 Fibrochondrogenesis 1
- ORPHA:1118 Fibular aplasia-ectrodactyly syndrome
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- ORPHA:2048 Foix-Chavany-Marie syndrome
- OMIM:612289 Fontaine progeroid syndrome
- OMIM:617667 Fraser syndrome 3
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:613451 Frontonasal dysplasia 2
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
Disease code
Disease name
- ORPHA:79237 Galactokinase deficiency
- OMIM:256540 Galactosialidosis
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- ORPHA:355 Gaucher disease
- ORPHA:77261 Gaucher disease type 3
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:51608 Generalized arterial calcification of infancy
- ORPHA:226316 Genetic transient congenital hypothyroidism
- OMIM:606170 Genitopatellar syndrome
- ORPHA:99926 Gestational choriocarcinoma
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:358 Gitelman syndrome
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- ORPHA:367 Glycogen storage disease due to glycogen branching enzyme deficiency
- ORPHA:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- OMIM:232500 Glycogen storage disease IV
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:230600 GM1-gangliosidosis, type II
- ORPHA:2090 GMS syndrome
- ORPHA:1426 Greenberg dysplasia
- OMIM:215140 Greenberg skeletal dysplasia
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
Disease code
Disease name
- ORPHA:99803 Haddad syndrome
- OMIM:301068 Hardikar syndrome
- ORPHA:163596 Hb Bart's hydrops fetalis
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:2119 HEC syndrome
- ORPHA:244242 HELLP syndrome
- ORPHA:306741 Hemidystonia-hemiatrophy syndrome
- OMIM:231100 Hemochromatosis, neonatal
- ORPHA:2133 Hemoglobin E disease
- ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency
- OMIM:619462 Hemolytic disease of fetus and newborn, RH-induced
- OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3
- ORPHA:2136 Hennekam syndrome
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:79357 Hereditary palmoplantar keratoderma
- ORPHA:82 Hereditary thrombophilia due to congenital antithrombin deficiency
- OMIM:306955 Heterotaxy, visceral, 1, X-linked
- ORPHA:79242 Holocarboxylase synthetase deficiency
- OMIM:306990 Holoprosencephaly with fetal akinesia/hypokinesia sequence
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:2167 Holzgreve syndrome
- ORPHA:99927 Hydatidiform mole
- OMIM:231090 Hydatidiform mole, recurrent, 1
- OMIM:614293 Hydatidiform mole, recurrent, 2
- OMIM:618431 Hydatidiform mole, recurrent, 3
- OMIM:618432 Hydatidiform mole, recurrent, 4
- OMIM:617967 Hydrocephalus, congenital, 3, with brain anomalies
- OMIM:600559 Hydrocephalus, endocardial fibroelastosis, and cataracts
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- ORPHA:1041 Hydrops fetalis
- OMIM:236750 Hydrops fetalis, nonimmune
- OMIM:613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
- OMIM:617021 Hydrops, lactic acidosis, and sideroblastic anemia
- OMIM:619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
- OMIM:614619 Hyperekplexia 2
- OMIM:614618 Hyperekplexia 3
- ORPHA:324575 Hyperinsulinism due to HNF1A deficiency
- OMIM:618188 Hyperparathyroidism, transient neonatal
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:605115 Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy
- OMIM:603373 Hyperthyroidism, familial gestational
- OMIM:609152 Hyperthyroidism, nonautoimmune
- OMIM:613845 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:241500 Hypophosphatasia, infantile
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:2248 Hypoplastic left heart syndrome
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
Disease code
Disease name
- OMIM:608649 Ichthyosis prematurity syndrome
- OMIM:242300 Ichthyosis, congenital, autosomal recessive 1
- OMIM:242500 Ichthyosis, congenital, autosomal recessive 4B
- ORPHA:88621 Ichthyosis-prematurity syndrome
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:45452 Idiopathic neonatal atrial flutter
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- OMIM:609981 Immunodeficiency 54
- OMIM:618495 Immunodeficiency 63 with lymphoproliferation and autoimmunity
- OMIM:612260 Immunodeficiency 68
- OMIM:608203 Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
- OMIM:619313 Immunodeficiency 80 with or without cardiomyopathy
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:616873 Immunodeficiency, common variable, 13
- ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome
- ORPHA:45453 Incessant infant ventricular tachycardia
- ORPHA:1909 Indomethacin embryofetopathy
- ORPHA:70587 Infant acute respiratory distress syndrome
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia
- OMIM:269920 Infantile sialic acid storage disease
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- ORPHA:63259 Iniencephaly
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:616393 Intellectual developmental disorder, autosomal dominant 38
- OMIM:617601 Intellectual developmental disorder, autosomal dominant 46
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:171433 Intermediate nemaline myopathy
- OMIM:620045 Intestinal dysmotility syndrome
- ORPHA:69665 Intrahepatic cholestasis of pregnancy
- ORPHA:99925 Invasive mole
- ORPHA:563609 Isolated anencephaly
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:563612 Isolated exencephaly
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
Disease code
Disease name
Disease code
Disease name
- ORPHA:254519 Kagami-Ogata syndrome
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:435628 Keppen-Lubinsky syndrome
- ORPHA:494 Keratoderma hereditarium mutilans
- ORPHA:79395 Keratoderma hereditarium mutilans with ichthyosis
- OMIM:601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
- OMIM:173650 Kindler syndrome
- OMIM:619542 King-Denborough syndrome
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:245190 Kniest-Like dysplasia, lethal
- OMIM:618458 Knobloch syndrome 2
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
Disease code
Disease name
- ORPHA:99824 Lassa fever
- ORPHA:330015 Lead poisoning
- ORPHA:255249 Leigh syndrome with nephrotic syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- OMIM:253310 Lethal congenital contracture syndrome 1
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:617194 Lethal congenital contracture syndrome 11
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:615368 Lethal congenital contracture syndrome 5
- OMIM:616248 Lethal congenital contracture syndrome 6
- OMIM:616286 Lethal congenital contracture syndrome 7
- OMIM:616287 Lethal congenital contracture syndrome 8
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:1423 Lethal recessive chondrodysplasia
- OMIM:116920 Leukocyte adhesion deficiency, type I
- OMIM:260600 Leukodystrophy, hypomyelinating, 3
- OMIM:151623 Li-Fraumeni syndrome
- ORPHA:524 Li-Fraumeni syndrome
- ORPHA:2369 Limb body wall complex
- OMIM:604367 Lipodystrophy, familial partial, type 3
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- ORPHA:533 Listeriosis
- OMIM:603830 Long QT syndrome 3
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- OMIM:153100 Lymphatic malformation 1
- OMIM:620014 Lymphatic malformation 12
- OMIM:617300 Lymphatic malformation 7
- OMIM:618773 Lymphatic malformation 8
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:616843 Lymphedema, hereditary, III
- OMIM:153400 Lymphedema-Distichiasis syndrome
Disease code
Disease name
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:619322 Marbach-Rustad progeroid syndrome
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:154780 Marshall syndrome
- ORPHA:96179 Maternal uniparental disomy of chromosome 2
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- OMIM:616329 Maturity-onset diabetes of the young, type 13
- OMIM:608978 Meacham syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:615397 Meckel syndrome 11
- OMIM:616258 Meckel syndrome 12
- OMIM:619879 Meckel syndrome 14
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- ORPHA:70588 Meconium aspiration syndrome
- ORPHA:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
- OMIM:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
- OMIM:619351 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- OMIM:619362 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- OMIM:619365 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
- OMIM:619431 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
- OMIM:224690 Meier-Gorlin syndrome 1
- ORPHA:401973 MEND syndrome
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:600383 Mesomelia-Synostoses syndrome
- OMIM:156530 Metatropic dysplasia
- ORPHA:1923 Methimazole embryofetopathy
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- ORPHA:79329 MGAT2-CDG
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:618246 Mitochondrial complex I deficiency, nuclear type 25
- OMIM:301021 Mitochondrial complex I deficiency, nuclear type 30
- OMIM:618253 Mitochondrial complex I deficiency, nuclear type 33
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:620135 Mitochondrial complex I deficiency, nuclear type 39
- OMIM:618775 Mitochondrial complex III deficiency, nuclear type 10
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:619053 Mitochondrial complex IV deficiency, nuclear type 10
- OMIM:615119 Mitochondrial complex IV deficiency, nuclear type 6
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- OMIM:609015 Mitochondrial trifunctional protein deficiency
- ORPHA:79330 MOGS-CDG
- ORPHA:96168 Monosomy 13q34
- ORPHA:99226 Monosomy X
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- ORPHA:576 Mucolipidosis type II
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:253200 Mucopolysaccharidosis, type VI
- OMIM:253250 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- ORPHA:2300 Multiple intestinal atresia
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:613205 Muscular dystrophy, congenital, lmna-related
- OMIM:609456 Muscular dystrophy, congenital, merosin-positive
- OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14
- OMIM:254120 Muscular hypertonia, lethal
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:616330 Myasthenic syndrome, congenital, 18
- OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic
- OMIM:618323 Myasthenic syndrome, congenital, 25, presynaptic
- OMIM:616322 Myasthenic syndrome, congenital, 3B, fast-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- ORPHA:268249 Mycophenolate mofetil embryopathy
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- OMIM:619178 Myofibrillar myopathy 11
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:618823 Myopathy, congenital proximal, with minicore lesions
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:618822 Myopathy, congenital, with respiratory insufficiency and bone fractures
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:300219 Myotubular myopathy with abnormal genital development
Disease code
Disease name
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- ORPHA:391673 Necrotizing enterocolitis
- OMIM:616165 Nemaline myopathy 10
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:610687 Nemaline myopathy 7
- OMIM:615348 Nemaline myopathy 8
- OMIM:615731 Nemaline myopathy 9
- ORPHA:464370 Neonatal alloimmune neutropenia
- ORPHA:223 Nephrogenic diabetes insipidus
- OMIM:602088 Nephronophthisis 2
- ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- OMIM:256550 Neuraminidase deficiency
- OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures
- OMIM:619922 Neurodevelopmental disorder with dystonia and seizures
- OMIM:619971 Neurodevelopmental disorder with epilepsy and brain atrophy
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- 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:1143 Neurogenic arthrogryposis multiplex congenita
- OMIM:600175 Neuronopathy, distal hereditary motor, type VIII
- OMIM:618184 Neuropathy, congenital hypomyelinating, 2
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- ORPHA:646 Niemann-Pick disease type C
- OMIM:257220 Niemann-pick disease, type C1
- OMIM:607625 Niemann-pick disease, type C2
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:648 Noonan syndrome
- OMIM:616564 Noonan syndrome 10
- OMIM:618624 Noonan syndrome 12
- OMIM:619745 Noonan syndrome 14
- OMIM:605275 Noonan syndrome 2
- OMIM:609942 Noonan syndrome 3
- OMIM:610733 Noonan syndrome 4
- OMIM:611553 Noonan syndrome 5
- OMIM:613224 Noonan syndrome 6
- OMIM:615355 Noonan syndrome 8
- 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:3032 NPHP3-related Meckel-like syndrome
- OMIM:257350 Nuchal bleb, familial
Disease code
Disease name
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- OMIM:300855 Ogden syndrome
- ORPHA:2729 Okamoto syndrome
- ORPHA:2260 Oligomeganephronia
- ORPHA:39041 Omenn syndrome
- ORPHA:660 Omphalocele
- OMIM:619176 Oocyte maturation defect 10
- OMIM:619697 Oocyte maturation defect 12
- OMIM:619009 Oocyte maturation defect 8
- OMIM:619011 Oocyte maturation defect 9
- OMIM:258480 Opsismodysplasia
- ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- ORPHA:2753 Orofaciodigital syndrome type 4
- OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
- OMIM:166210 Osteogenesis imperfecta, type II
- OMIM:610682 Osteogenesis imperfecta, type VII
- OMIM:300373 Osteopathia striata with cranial sclerosis
- ORPHA:2785 Osteopetrosis with renal tubular acidosis
- OMIM:619884 Osteoporosis, childhood- or juvenile-onset, with developmental delay
- ORPHA:1427 Otospondylomegaepiphyseal dysplasia
Disease code
Disease name
- ORPHA:2798 Pachygyria-intellectual disability-epilepsy syndrome
- ORPHA:672 Pallister-Hall syndrome
- OMIM:601803 Pallister-Killian syndrome
- OMIM:212360 Palmoplantar keratoderma and congenital alopecia 2
- OMIM:616099 Palmoplantar keratoderma and woolly hair
- OMIM:600001 Pancreatic agenesis and congenital heart defects
- OMIM:260370 Pancreatic agenesis, congenital
- ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- ORPHA:567983 Parenteral nutrition-associated cholestasis
- OMIM:619738 Parkinsonism-dystonia 3, childhood-onset
- OMIM:601466 Patent ductus venosus
- ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome
- ORPHA:96190 Paternal uniparental disomy of chromosome 5
- ORPHA:96191 Paternal uniparental disomy of chromosome 6
- OMIM:557000 Pearson marrow-pancreas syndrome
- ORPHA:699 Pearson syndrome
- ORPHA:525731 Pediatric-onset Graves disease
- ORPHA:702 Pelizaeus-Merzbacher disease
- ORPHA:63275 Pemphigoid gestationis
- ORPHA:49 Penile agenesis
- OMIM:614674 Periodic fever, menstrual cycle-dependent
- ORPHA:563 Peripartum cardiomyopathy
- OMIM:609136 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
- OMIM:267000 Perlman syndrome
- OMIM:614882 Peroxisome biogenesis disorder 10A (Zellweger)
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:214100 Peroxisome biogenesis disorder 1A (Zellweger)
- ORPHA:709 Peters plus syndrome
- OMIM:261540 Peters-Plus syndrome
- OMIM:261600 Phenylketonuria
- ORPHA:2879 Phocomelia, Schinzel type
- OMIM:619859 Phosphoribosylaminoimidazole carboxylase deficiency
- ORPHA:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form
- OMIM:609049 Pierson syndrome
- OMIM:610954 Pitt-Hopkins syndrome
- ORPHA:439167 Placental insufficiency
- ORPHA:99928 Placental site trophoblastic tumor
- ORPHA:85166 Platyspondylic dysplasia, Torrance type
- OMIM:151210 Platyspondylic lethal skeletal dysplasia, Torrance type
- OMIM:263200 Polycystic kidney disease 4 with or without polycystic liver disease
- OMIM:615895 Polyglucosan body myopathy 1 with or without immunodeficiency
- OMIM:263610 Polyhydramnios, chronic idiopathic
- OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy
- ORPHA:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- OMIM:618343 Polymicrogyria with or without vascular-type EDS
- OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
- OMIM:263630 Polysyndactyly with cardiac malformation
- ORPHA:166063 Pontocerebellar hypoplasia type 4
- OMIM:618810 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- OMIM:619303 Pontocerebellar hypoplasia, type 1E
- OMIM:277470 Pontocerebellar hypoplasia, type 2A
- OMIM:612389 Pontocerebellar hypoplasia, type 2B
- OMIM:225753 Pontocerebellar hypoplasia, type 4
- OMIM:263650 Popliteal pterygium syndrome, Bartsocas-Papas type 1
- ORPHA:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- ORPHA:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome
- ORPHA:93110 Posterior urethral valve
- ORPHA:79083 PPARG-related familial partial lipodystrophy
- OMIM:176270 Prader-Willi syndrome
- ORPHA:739 Prader-Willi syndrome
- ORPHA:177910 Prader-Willi syndrome due to imprinting mutation
- ORPHA:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion
- ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:398073 Prader-Willi-like syndrome
- ORPHA:275555 Preeclampsia
- OMIM:189800 Preeclampsia/eclampsia 1
- OMIM:609404 Preeclampsia/eclampsia 4
- OMIM:614595 Preeclampsia/eclampsia 5
- OMIM:614389 Pregnancy loss, recurrent, susceptibility to, 1
- OMIM:614390 Pregnancy loss, recurrent, susceptibility to, 2
- OMIM:614391 Pregnancy loss, recurrent, susceptibility to, 3
- OMIM:617234 Preimplantation embryonic lethality 2
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- OMIM:610504 Preterm premature rupture of the membranes
- ORPHA:244 Primary ciliary dyskinesia
- ORPHA:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- OMIM:602249 Progeroid facial appearance with hand anomalies
- ORPHA:100070 Progressive non-fluent aphasia
- OMIM:225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- OMIM:100100 Prune belly syndrome
- ORPHA:2970 Prune belly syndrome
- OMIM:618886 Pseudo-Torch syndrome 3
- ORPHA:2976 Pseudoleprechaunism syndrome, Patterson type
- ORPHA:2997 Ptosis-vocal cord paralysis syndrome
- ORPHA:1208 Pulmonary atresia-intact ventricular septum syndrome
- OMIM:265950 Pyloric atresia
- ORPHA:79096 Pyridoxal phosphate-responsive seizures
- OMIM:610090 Pyridoxamine 5-prime-phosphate oxidase deficiency
- ORPHA:3006 Pyridoxine-dependent epilepsy
- ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency
- OMIM:266200 Pyruvate kinase deficiency of red cells
Disease code
Disease name
- OMIM:266250 Radiculoneuropathy, fatal neonatal
- OMIM:619312 Radio-Tartaglia syndrome
- OMIM:616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome
- OMIM:613658 Rajab interstitial lung disease with brain calcifications
- OMIM:619013 Rajab interstitial lung disease with brain calcifications 2
- ORPHA:411709 Renal agenesis
- ORPHA:1848 Renal agenesis, bilateral
- ORPHA:93108 Renal dysplasia
- OMIM:191830 Renal hypodysplasia/aplasia 1
- OMIM:619887 Renal hypodysplasia/aplasia 4
- ORPHA:93101 Renal hypoplasia
- ORPHA:97362 Renal hypoplasia, bilateral
- OMIM:267430 Renal tubular dysgenesis
- ORPHA:3033 Renal tubular dysgenesis
- OMIM:208540 Renal-hepatic-pancreatic dysplasia 1
- OMIM:615415 Renal-Hepatic-Pancreatic dysplasia 2
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- OMIM:267450 Respiratory distress syndrome in premature infants
- ORPHA:1662 Restrictive dermopathy
- OMIM:275210 Restrictive dermopathy 1
- OMIM:619793 Restrictive dermopathy 2
- ORPHA:90050 Retinopathy of prematurity
- ORPHA:71275 Rh deficiency syndrome
- ORPHA:1450 Ring chromosome 8 syndrome
- OMIM:220210 Ritscher-Schinzel syndrome 1
- OMIM:619435 Ritscher-Schinzel syndrome 4
- ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy
- ORPHA:3103 Roberts syndrome
- OMIM:268300 Roberts syndrome
- OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly
- OMIM:616651 Roifman syndrome
- ORPHA:101016 Romano-Ward syndrome
- ORPHA:783 Rubinstein-Taybi syndrome
- OMIM:180849 Rubinstein-Taybi syndrome 1
- OMIM:613684 Rubinstein-Taybi syndrome 2
- ORPHA:353277 Rubinstein-Taybi syndrome due to CREBBP mutations
- ORPHA:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Disease code
Disease name
- ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency
- OMIM:618804 Sandestig-Stefanova syndrome
- ORPHA:3132 Say-Barber-Miller syndrome
- OMIM:312830 Scarf syndrome
- OMIM:615547 Schaaf-Yang syndrome
- ORPHA:1830 Schimke immuno-osseous dysplasia
- ORPHA:63862 Schisis association
- OMIM:269250 Schneckenbecken dysplasia
- ORPHA:3144 Schneckenbecken dysplasia
- OMIM:615009 Schuurs-Hoeijmakers syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:616777 Seckel syndrome 9
- ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome
- ORPHA:90051 Sepsis in premature infants
- ORPHA:3157 Septo-optic dysplasia spectrum
- ORPHA:139466 SERKAL syndrome
- ORPHA:171430 Severe congenital nemaline myopathy
- OMIM:617190 Shashi-Pena syndrome
- ORPHA:1505 Short rib-polydactyly syndrome
- OMIM:615503 Short rib-polydactyly syndrome, type VI
- ORPHA:93271 Short rib-polydactyly syndrome, Verma-Naumoff type
- ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome
- OMIM:615633 Short-Rib thoracic dysplasia 11 with or without polydactyly
- OMIM:269860 Short-rib thoracic dysplasia 12
- OMIM:616546 Short-Rib thoracic dysplasia 14 with polydactyly
- OMIM:617088 Short-rib thoracic dysplasia 15 with polydactyly
- OMIM:263520 Short-Rib thoracic dysplasia 6 with or without polydactyly
- OMIM:614091 Short-Rib thoracic dysplasia 7 with or without polydactyly
- OMIM:182210 Shprintzen omphalocele syndrome
- ORPHA:87876 Sialidosis type 2
- ORPHA:813 Silver-Russell syndrome
- OMIM:616489 Silver-Russell syndrome 3
- ORPHA:231144 Silver-Russell syndrome due to 11p15 microduplication
- ORPHA:397590 Silver-Russell syndrome due to a point mutation
- ORPHA:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- OMIM:312870 Simpson-Golabi-Behmel syndrome, type 1
- OMIM:300209 Simpson-golabi-behmel syndrome, type 2
- OMIM:602613 Skeletal dysplasia and progressive central nervous system degeneration, lethal
- OMIM:618870 Skeletal dysplasia, mild, with joint laxity and advanced bone age
- ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- ORPHA:356961 SLC35A2-CDG
- ORPHA:818 Smith-Lemli-Opitz syndrome
- OMIM:270400 Smith-Lemli-Opitz syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:117550 Sotos syndrome
- OMIM:617296 Spastic paraplegia, intellectual disability, nystagmus, and obesity
- ORPHA:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- OMIM:618598 Spastic tetraplegia and axial hypotonia, progressive
- OMIM:617475 Specific granule deficiency 2
- OMIM:270960 Spermatogenic failure 4
- OMIM:616866 Spinal muscular atrophy with congenital bone fractures 1
- OMIM:616867 Spinal muscular atrophy with congenital bone fractures 2
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:618291 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
- OMIM:301830 Spinal muscular atrophy, X-linked 2
- ORPHA:2063 Splenogonadal fusion-limb defects-micrognathia syndrome
- OMIM:271520 Spondylocostal dysostosis with anal atresia and urogenital anomalies
- ORPHA:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- OMIM:143095 Spondyloepiphyseal dysplasia with congenital joint dislocations
- ORPHA:93316 Spondylometaphyseal dysplasia, Schmidt type
- OMIM:601559 Stuve-Wiedemann syndrome
- ORPHA:3206 Stüve-Wiedemann syndrome
- OMIM:617746 Sweeney-Cox syndrome
- ORPHA:1570 Symbrachydactyly of hands and feet
- ORPHA:1314 Symmetrical thalamic calcifications
Disease code
Disease name
- OMIM:615879 Tatton-Brown-Rahman syndrome
- ORPHA:488632 TBCK-related intellectual disability syndrome
- OMIM:145420 Teebi hypertelorism syndrome 1
- ORPHA:254516 Temple syndrome
- OMIM:616222 Temple syndrome
- ORPHA:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
- OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1
- OMIM:273300 Testicular tumor, somatic
- OMIM:273395 Tetraamelia, autosomal recessive
- ORPHA:3301 Tetraamelia-multiple malformations syndrome
- ORPHA:2655 Thanatophoric dysplasia
- ORPHA:1860 Thanatophoric dysplasia type 1
- ORPHA:93274 Thanatophoric dysplasia type 2
- OMIM:187600 Thanatophoric dysplasia, type I
- OMIM:187601 Thanatophoric dysplasia, type II
- ORPHA:3316 Thomas syndrome
- OMIM:187760 Thoracolaryngopelvic dysplasia
- OMIM:188055 Thrombophilia due to deficiency of activated protein C cofactor
- OMIM:274265 Thymic-Renal-Anal-Lung dysplasia
- ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy
- ORPHA:3339 Toriello-Lacassie-Droste syndrome
- ORPHA:3346 Tracheal agenesis
- OMIM:606003 Transaldolase deficiency
- ORPHA:101028 Transaldolase deficiency
- ORPHA:495 Transgrediens et progrediens palmoplantar keratoderma
- ORPHA:99886 Transient neonatal diabetes mellitus
- OMIM:222470 Trichohepatoenteric syndrome 1
- OMIM:614602 Trichohepatoenteric syndrome 2
- ORPHA:33364 Trichothiodystrophy
- ORPHA:3374 Triopia
- OMIM:615512 Triosephosphate isomerase deficiency
- ORPHA:3376 Triploidy
- ORPHA:1699 Trisomy 12p
- ORPHA:3378 Trisomy 13
- ORPHA:3380 Trisomy 18
- ORPHA:261344 Trisomy 1q
- ORPHA:264450 Trisomy 8p
- ORPHA:103918 Tropical pancreatitis
- ORPHA:881 Turner syndrome
- ORPHA:99413 Turner syndrome due to structural X chromosome anomalies
- OMIM:618371 Turnpenny-Fry syndrome
- ORPHA:171436 Typical nemaline myopathy
- OMIM:615102 Tyshchenko syndrome
Disease code
Disease name
Disease code
Disease name
- OMIM:314390 VACTERL association, X-linked
- ORPHA:3412 VACTERL with hydrocephalus
- ORPHA:887 VACTERL/VATER association
- OMIM:600920 Van den Ende-Gupta syndrome
- ORPHA:286 Vascular Ehlers-Danlos syndrome
- OMIM:192350 Vater associationvacterl association, included
- ORPHA:3424 Velo-facial-skeletal syndrome
- OMIM:219730 Ventriculomegaly with cystic kidney disease
- OMIM:617982 Ververi-Brady syndrome
- OMIM:613674 Vesicoureteral reflux 3
- OMIM:155310 Visceral myopathy 1
- OMIM:619472 VISS syndrome
- OMIM:619033 Vissers-Bodmer syndrome
- OMIM:124500 Vohwinkel syndrome
- OMIM:604117 Vohwinkel syndrome, variant form
Disease code
Disease name
- OMIM:314580 Wieacker-Wolff syndrome
- OMIM:301041 Wieacker-Wolff syndrome, female-restricted
- ORPHA:3455 Wiedemann-Rautenstrauch syndrome
- ORPHA:904 Williams syndrome
- OMIM:613406 Witteveen-Kolk syndrome
- OMIM:194190 Wolf-Hirschhorn syndrome
- ORPHA:280 Wolf-Hirschhorn syndrome
- OMIM:278250 Wrinkly skin syndrome
- ORPHA:2834 Wrinkly skin syndrome
Disease code
Disease name
- ORPHA:96201 X small rings
- ORPHA:596 X-linked centronuclear myopathy
- ORPHA:35173 X-linked dominant chondrodysplasia punctata
- ORPHA:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:163956 X-linked intellectual disability, Nascimento type
- ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome
- ORPHA:456328 X-linked myotubular myopathy-abnormal genitalia syndrome
- ORPHA:3469 XK aprosencephaly 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
- AARS1
- ABCA12
- ABCA3
- ABCB11
- ABCB4
- ABCC8
- ABCD4
- ACE
- ACTA1
- ACTA2
- ACTG2
- ACTL6B
- ADA
- ADA2
- ADAMTS2
- ADAMTS3
- ADARB1
- ADAT3
- ADCY6
- ADGRG6
- AGGF1
- AGRN
- AGT
- AGTPBP1
- AGTR1
- AHCY
- AIMP1
- AKAP9
- ALB
- ALDH1A2
- ALDH7A1
- ALG1
- ALG12
- ALG14
- ALG8
- ALG9
- ALPK3
- ALPL
- ALX4
- AMER1
- AMMECR1
- ANK2
- ANO1
- ANXA5
- AP3B2
- AQP2
- ARHGAP31
- ARNT2
- ARSB
- ARSL
- ARV1
- ARVCF
- ASAH1
- ASCC1
- ASCL1
- ASH1L
- ASXL1
- ASXL2
- ASXL3
- ATAD3A
- ATP1A2
- ATP1A3
- ATP6V0A1
- ATP6V0A2
- ATP6V1A
- ATP6V1B2
- ATP8B1
- AVPR2
Gene name
Gene name
- C11orf80
- C1QBP
- CA2
- CACNA1B
- CACNA1C
- CACNA1D
- CACNA2D1
- CALCRL
- CALM1
- CALM2
- CALM3
- CAMK2B
- CAMKMT
- CARS1
- CARS2
- CASP10
- CAV3
- CBL
- CC2D2A
- CCBE1
- CCDC103
- CCDC174
- CCDC22
- CCDC39
- CCDC40
- CCDC65
- CCNO
- CD109
- CD46
- CD96
- CDAN1
- CDC42BPB
- CDK13
- CDK19
- CDKN1C
- CDKN2A
- CDON
- CELF2
- CEP290
- CEP55
- CEP57
- CERT1
- CFAP221
- CFAP298
- CFAP300
- CFH
- CFI
- CFL2
- CHAT
- CHD7
- CHEK2
- CHMP2B
- CHRM3
- CHRNA1
- CHRND
- CHRNE
- CHRNG
- CHST3
- CHUK
- CILK1
- CLCN3
- CLCN7
- CLCNKA
- CLCNKB
- CLIP2
- CLPB
- CLTC
- CLTCL1
- CNKSR2
- CNOT1
- CNTN1
- CNTNAP1
- COG5
- COL11A1
- COL11A2
- COL12A1
- COL13A1
- COL1A1
- COL1A2
- COL25A1
- COL2A1
- COL3A1
- COL5A1
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COMT
- COPB2
- COQ2
- COQ7
- CORIN
- COX14
- COX15
- CPLX1
- CPSF3
- CPT1A
- CPT2
- CRB2
- CREBBP
- CRKL
- CRPPA
- CRTAP
- CSGALNACT1
- CSPP1
- CTBP1
- CTCF
- CTRC
- CTSA
- CYFIP2
- CYP11A1
- CYP11B1
- CYP11B2
- CYP19A1
Gene name
- DALRD3
- DCLRE1B
- DCLRE1C
- DDX6
- DEAF1
- DEF6
- DHCR7
- DHDDS
- DHPS
- DIS3L2
- DISP1
- DLK1
- DLL1
- DLL4
- DNA2
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DNAJC30
- DNAL1
- DNM1
- DNM1L
- DNM2
- DNMT3A
- DOCK6
- DOHH
- DOK7
- DONSON
- DPAGT1
- DPF2
- DPH5
- DPM2
- DPYSL5
- DRC1
- DSP
- DST
- DTYMK
- DUOX2
- DUOXA2
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYRK1A
- DZIP1L
Gene name
Gene name
- F12
- F13A1
- F13B
- F2
- F5
- F7
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FANCM
- FARSA
- FARSB
- FAS
- FASLG
- FAT4
- FBLN5
- FBN1
- FBXO28
- FBXO43
- FCGR3B
- FCSK
- FDXR
- FERMT1
- FGF12
- FGF13
- FGF20
- FGF8
- FGFR1
- FGFR3
- FGFRL1
- FIG4
- FKBP14
- FKBP6
- FLI1
- FLII
- FLNB
- FLT1
- FLT4
- FLVCR2
- FOXC2
- FOXE1
- FOXE3
- FOXF1
- FOXH1
- FOXJ1
- FOXRED1
- FUT8
- FUZ
- FXR1
- FZD4
- FZR1
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
- MAD2L2
- MADD
- MAFB
- MAGED2
- MAGEL2
- MAMLD1
- MAP2K1
- MAP2K2
- MAP3K20
- MAP3K7
- MAPK1
- MAPT
- MAT2A
- MBTPS2
- MCIDAS
- MCM10
- MCM4
- MCTP2
- MDFIC
- MDM2
- MECOM
- MED12
- MEG3
- MEGF10
- MEI1
- METTL27
- MFAP5
- MGAT2
- MKRN3
- MKS1
- MLXIPL
- MMACHC
- MME
- MOGS
- MPLKIP
- MPZ
- MRAS
- MRPS16
- MRPS22
- MSX1
- MT-ND1
- MT-ND2
- MT-ND3
- MTHFR
- MTM1
- MTMR14
- MUSK
- MYCN
- MYD88
- MYF6
- MYH11
- MYH3
- MYH7
- MYL1
- MYL11
- MYL2
- MYL9
- MYLK
- MYMK
- MYO9A
- MYOD1
- MYPN
Gene name
- NAA10
- NAA20
- NALCN
- NDN
- NDP
- NDUFA1
- NDUFA11
- NDUFA6
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF8
- NDUFB10
- NDUFB11
- NDUFB3
- NDUFB7
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NECAP1
- NECTIN1
- NEK1
- NEK10
- NEK8
- NEK9
- NELFA
- NEU1
- NEXMIF
- NFASC
- NIPBL
- NKX2-5
- NLRP3
- NLRP7
- NME8
- NODAL
- NOS1AP
- NOS3
- NOTCH1
- NPAP1
- NPC1
- NPC2
- NPHP3
- NR1H4
- NR3C2
- NRAS
- NRCAM
- NSD1
- NSD2
- NSF
- NTRK2
- NUBPL
- NUP107
- NUP133
- NUP188
- NUP88
- NUS1
Gene name
- PACS1
- PADI6
- PAFAH1B1
- PAH
- PAICS
- PAK2
- PALB2
- PARS2
- PAX2
- PAX7
- PBX1
- PCGF2
- PDHA1
- PDSS2
- PDX1
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PGAP2
- PGAP3
- PHACTR1
- PHGDH
- PI4KA
- PIEZO1
- PIGA
- PIGG
- PIGL
- PIGN
- PIGO
- PIGQ
- PIGS
- PIGV
- PIGW
- PIGY
- PKHD1
- PKLR
- PLAG1
- PLAGL1
- PLD1
- PLEC
- PLOD1
- PLPBP
- PLVAP
- PMM2
- PNPO
- POLR2A
- POLR3A
- POMP
- POR
- POU1F1
- PPARG
- PPM1B
- PPP1CB
- PPP3CA
- PRDM13
- PREPL
- PRKAG2
- PRKCD
- PRKG1
- PROKR2
- PROP1
- PRPS1
- PRRX1
- PRUNE1
- PSAT1
- PSEN1
- PTCD3
- PTCH1
- PTH1R
- PTPN11
- PTPN23
- PTRH2
- PUF60
- PWAR1
- PWRN1
Gene name
- RAC1
- RAC2
- RAD21
- RAD51
- RAD51C
- RAF1
- RAG1
- RAG2
- RAI1
- RALGAPA1
- RAPSN
- RASA1
- RASA2
- RASGRP1
- RBCK1
- RBPJ
- REC114
- REN
- RET
- RFC2
- RFWD3
- RHAG
- RHCE
- RHD
- RIPK4
- RIT1
- RMRP
- RNF113A
- RNF13
- RNF2
- RNU4ATAC
- RPGR
- RPGRIP1
- RPGRIP1L
- RPL10
- RPL11
- RPL15
- RPL18
- RPL26
- RPL27
- RPL31
- RPL35
- RPL35A
- RPL5
- RPS10
- RPS15A
- RPS17
- RPS19
- RPS20
- RPS24
- RPS26
- RPS27
- RPS28
- RPS29
- RPS7
- RRAS
- RRAS2
- RREB1
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RSPO2
- RTL1
- RYR1
Gene name
- SARS2
- SATB1
- SCARF2
- SCN10A
- SCN3A
- SCN4B
- SCN5A
- SCN8A
- SCYL2
- SEC24C
- SEC24D
- SELENON
- SEMA3E
- SERPINC1
- SERPINE1
- SERPINH1
- SETD1A
- SF3B4
- SFTPB
- SFTPC
- SHH
- SHOC2
- SHPK
- SHQ1
- SIN3A
- SIX3
- SKIC2
- SKIC3
- SLC12A1
- SLC12A3
- SLC13A5
- SLC16A2
- SLC17A5
- SLC18A3
- SLC1A2
- SLC25A1
- SLC25A12
- SLC25A19
- SLC25A20
- SLC25A24
- SLC25A26
- SLC25A46
- SLC26A2
- SLC26A3
- SLC27A4
- SLC30A9
- SLC35A2
- SLC35D1
- SLC38A3
- SLC3A1
- SLC5A5
- SLC5A7
- SLC6A5
- SLC6A9
- SLC9A3
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMARCAD1
- SMARCAL1
- SMARCD2
- SMC1A
- SMC3
- SMG9
- SMPD4
- SNAP25
- SNORD115-1
- SNORD116-1
- SNRPB
- SNRPN
- SNTA1
- SOD1
- SON
- SOS1
- SOS2
- SOX10
- SOX17
- SOX18
- SOX2
- SOX3
- SOX9
- SPAG1
- SPECC1L
- SPEF2
- SPEN
- SPINK1
- SPINT2
- SPOP
- SPRED2
- SPTA1
- SPTB
- SPTBN1
- SQSTM1
- STAG1
- STAT2
- STK11
- STK36
- STOX1
- STRADA
- STX1A
- SUFU
- SYCP3
- SYNE1
- SYNGAP1
- SYNJ1
- SYT2
- SZT2
Gene name
- TAF1
- TALDO1
- TAOK1
- TAPT1
- TARS1
- TBC1D24
- TBCD
- TBCK
- TBL2
- TBX1
- TBX5
- TCF4
- TCTN1
- TCTN2
- TCTN3
- TDGF1
- TG
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGIF1
- TGM1
- THOC2
- TIMMDC1
- TLK2
- TMCO1
- TMEM106B
- TMEM107
- TMEM126B
- TMEM216
- TMEM231
- TMEM237
- TMEM270
- TMEM67
- TMEM70
- TOR1A
- TP53
- TP53RK
- TP63
- TPI1
- TPM2
- TPM3
- TPO
- TPRKB
- TRAF7
- TRAIP
- TRAK1
- TRAPPC12
- TRDN
- TREM2
- TRHR
- TRIM37
- TRIP11
- TRIP13
- TRIP4
- TRPV4
- TRPV6
- TSEN2
- TSEN54
- TSFM
- TSHB
- TSHR
- TSR2
- TTC12
- TTC26
- TTC7A
- TUBA1A
- TWIST1
- TWIST2
- TXNDC15
Gene name
International Division
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T. : +33 4 72 80 23 85
Contact by email
T. : +33 4 72 80 23 85
Contact by email
