3-methylcrotonyl-CoA carboxylase 1 deficiency | 2 | Dec 14, 2022 |
3-methylcrotonyl-CoA carboxylase 2 deficiency | 2 | Dec 14, 2022 |
46,XY sex reversal 3 | 1 | Dec 11, 2022 |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2 | Dec 11, 2022 |
A20 haploinsufficiency | 2 | Dec 14, 2022 |
ACTH-independent macronodular adrenal hyperplasia 2 | 2 | Dec 14, 2022 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Dec 11, 2023 |
Achondrogenesis type II | 1 | Dec 11, 2023 |
Achondrogenesis, type IB | 1 | Dec 14, 2022 |
Acquired hemoglobin H disease | 1 | Dec 14, 2022 |
Acute myeloid leukemia | 3 | Dec 14, 2022 |
Acyl-CoA dehydrogenase 9 deficiency | 1 | Dec 11, 2022 |
Adams-Oliver syndrome 5 | 1 | Dec 11, 2022 |
Adrenoleukodystrophy | 1 | Dec 11, 2022 |
Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Dec 14, 2022 |
Age related macular degeneration 4 | 1 | Dec 11, 2022 |
Aicardi-Goutieres syndrome 2 | 1 | Dec 14, 2022 |
Aicardi-Goutieres syndrome 7 | 2 | Dec 11, 2023 |
Alexander disease | 1 | Dec 11, 2022 |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Dec 14, 2022 |
Alpha-1-antitrypsin deficiency | 2 | Dec 11, 2022 |
Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 | Dec 11, 2022 |
Alport syndrome | 3 | Dec 11, 2023 |
Alzheimer disease 3 | 1 | Dec 11, 2022 |
Amelogenesis imperfecta hypomaturation type 2A3 | 1 | Dec 11, 2022 |
Amyloidosis | 1 | Dec 11, 2023 |
Amyotrophic lateral sclerosis type 11 | 1 | Dec 11, 2022 |
Amyotrophic lateral sclerosis type 4 | 1 | Dec 14, 2022 |
Androgen resistance syndrome | 2 | Dec 14, 2022 |
Anemia, congenital dyserythropoietic, type 1a | 3 | Dec 14, 2022 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Dec 11, 2023 |
Angelman syndrome | 1 | Dec 11, 2023 |
Aniridia 1 | 9 | Feb 22, 2018 |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Dec 11, 2022 |
Anterior segment dysgenesis 3 | 1 | Dec 11, 2022 |
Anterior segment dysgenesis 6 | 1 | Dec 11, 2022 |
Aortic valve disease 1 | 1 | Dec 14, 2022 |
Aortic valve disease 2 | 1 | Dec 14, 2022 |
Aplastic anemia | 2 | Dec 11, 2023 |
Ariboflavinosis | 1 | Dec 11, 2022 |
Arrhythmogenic right ventricular cardiomyopathy | 2 | Dec 11, 2023 |
Arrhythmogenic right ventricular dysplasia 1 | 1 | Dec 14, 2022 |
Arrhythmogenic right ventricular dysplasia 10 | 1 | Dec 14, 2022 |
Arrhythmogenic right ventricular dysplasia 8 | 1 | Dec 14, 2022 |
Arrhythmogenic right ventricular dysplasia 9 | 2 | Dec 14, 2022 |
Arrhythmogenic right ventricular dysplasia, familial, 14 | 1 | Dec 11, 2023 |
Asphyxiating thoracic dystrophy 3 | 2 | Dec 11, 2023 |
Astrocytoma | 1 | Dec 11, 2022 |
Ataxia - oculomotor apraxia type 4 | 1 | Dec 11, 2023 |
Ataxia-telangiectasia syndrome | 5 | Dec 11, 2023 |
Atrioventricular septal defect, susceptibility to, 2 | 1 | Dec 11, 2022 |
Atypical hemolytic-uremic syndrome | 1 | Dec 11, 2023 |
Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Dec 14, 2022 |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Dec 11, 2022 |
Autism | 1 | Dec 11, 2023 |
Autism spectrum disorder | 1 | Dec 11, 2023 |
Autism, susceptibility to, X-linked 4 | 1 | Dec 11, 2023 |
Autoimmune interstitial lung disease-arthritis syndrome | 1 | Dec 11, 2023 |
Autoimmune thyroid disease, susceptibility to, 3 | 1 | Dec 11, 2022 |
Autoinflammatory syndrome, familial, Behcet-like 1 | 2 | Dec 11, 2023 |
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | 1 | Dec 11, 2023 |
Autosomal dominant Alport syndrome | 1 | Dec 11, 2023 |
Autosomal dominant Parkinson disease 8 | 1 | Dec 11, 2022 |
Autosomal dominant aplasia and myelodysplasia | 1 | Dec 14, 2022 |
Autosomal dominant hypocalcemia 1 | 5 | Dec 11, 2023 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Dec 11, 2023 |
Autosomal dominant nonsyndromic hearing loss 11 | 1 | Dec 11, 2023 |
Autosomal dominant nonsyndromic hearing loss 17 | 3 | Dec 14, 2022 |
Autosomal dominant nonsyndromic hearing loss 6 | 1 | Dec 14, 2022 |
Autosomal dominant nonsyndromic hearing loss 7 | 1 | Dec 11, 2023 |
Autosomal dominant optic atrophy classic form | 2 | Dec 11, 2023 |
Autosomal recessive Alport syndrome | 1 | Dec 11, 2023 |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Dec 11, 2022 |
Autosomal recessive ataxia, Beauce type | 2 | Dec 11, 2022 |
Autosomal recessive bestrophinopathy | 2 | Dec 14, 2022 |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Dec 11, 2023 |
Autosomal recessive congenital ichthyosis 1 | 2 | Dec 11, 2022 |
Autosomal recessive early-onset Parkinson disease 6 | 1 | Dec 11, 2022 |
Autosomal recessive early-onset Parkinson disease 7 | 1 | Dec 11, 2022 |
Autosomal recessive juvenile Parkinson disease 2 | 4 | Dec 14, 2022 |
Autosomal recessive limb-girdle muscular dystrophy | 1 | Dec 14, 2022 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Dec 11, 2022 |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Dec 14, 2022 |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Dec 14, 2022 |
Autosomal recessive nonsyndromic hearing loss 1A | 2 | Dec 11, 2023 |
Autosomal recessive nonsyndromic hearing loss 2 | 1 | Dec 11, 2023 |
Autosomal recessive nonsyndromic hearing loss 8 | 2 | Dec 11, 2022 |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 | Dec 11, 2022 |
Autosomal recessive spinocerebellar ataxia 10 | 2 | Dec 14, 2022 |
Autosomal recessive spinocerebellar ataxia 16 | 1 | Dec 11, 2023 |
Avascular necrosis of femoral head, primary, 1 | 1 | Dec 11, 2022 |
Avellino corneal dystrophy | 1 | Dec 11, 2022 |
Axenfeld-Rieger syndrome type 1 | 9 | Dec 22, 2016 |
Axenfeld-Rieger syndrome type 3 | 17 | Dec 11, 2022 |
BAP1-related tumor predisposition syndrome | 2 | Dec 14, 2022 |
Bardet-Biedl syndrome 1 | 1 | Dec 11, 2023 |
Bardet-Biedl syndrome 14 | 1 | Dec 14, 2022 |
Bartter disease type 2 | 2 | Dec 11, 2023 |
Benign familial hematuria | 1 | Dec 11, 2023 |
Bernard Soulier syndrome | 4 | Dec 11, 2023 |
Beta-thalassemia HBB/LCRB | 9 | Dec 11, 2023 |
Bethlem myopathy | 1 | Dec 14, 2022 |
Bethlem myopathy 1A | 5 | Dec 11, 2023 |
Bietti crystalline corneoretinal dystrophy | 1 | Dec 11, 2022 |
Biotinidase deficiency | 2 | Dec 11, 2023 |
Birt-Hogg-Dube syndrome | 3 | Dec 11, 2023 |
Bleeding disorder, platelet-type, 24 | 1 | Dec 14, 2022 |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Dec 11, 2022 |
Bone marrow failure syndrome 3 | 1 | Dec 11, 2022 |
Bone osteosarcoma | 1 | Dec 11, 2022 |
Brain small vessel disease 1 with or without ocular anomalies | 1 | Dec 14, 2022 |
Branchiooculofacial syndrome | 2 | Dec 11, 2022 |
Branchiootic syndrome 1 | 1 | Dec 11, 2023 |
Branchiootorenal syndrome 1 | 1 | Dec 11, 2022 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 29 | Dec 11, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 52 | Dec 11, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 3 | 5 | Dec 14, 2022 |
Breast-ovarian cancer, familial, susceptibility to, 4 | 4 | Dec 14, 2022 |
Bronchiectasis with or without elevated sweat chloride 1 | 1 | Dec 11, 2022 |
Bronchiectasis with or without elevated sweat chloride 2 | 1 | Dec 11, 2023 |
Brooke-Spiegler syndrome | 2 | Dec 14, 2022 |
Brown-Vialetto-van Laere syndrome 1 | 1 | Dec 14, 2022 |
Brugada syndrome | 1 | Dec 11, 2023 |
Brugada syndrome 1 | 1 | Dec 14, 2022 |
Brugada syndrome 3 | 3 | Dec 11, 2023 |
Brugada syndrome 9 | 1 | Dec 14, 2022 |
CFHR5 deficiency | 1 | Dec 11, 2023 |
CHARGE syndrome | 5 | Dec 11, 2023 |
CK syndrome | 1 | Dec 11, 2022 |
CLOVES syndrome | 1 | Dec 11, 2023 |
Camptomelic dysplasia | 1 | Dec 11, 2022 |
Capillary malformation-arteriovenous malformation 2 | 1 | Dec 11, 2023 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Dec 11, 2022 |
Cardiac, facial, and digital anomalies with developmental delay | 2 | Dec 11, 2022 |
Cardiac-urogenital syndrome | 1 | Dec 11, 2022 |
Carnitine acylcarnitine translocase deficiency | 1 | Dec 11, 2022 |
Carnitine palmitoyl transferase 1A deficiency | 2 | Dec 14, 2022 |
Cataract 10 multiple types | 2 | Dec 14, 2022 |
Cataract 17 multiple types | 1 | Dec 14, 2022 |
Cataract 3 multiple types | 1 | Dec 14, 2022 |
Cataract 5 multiple types | 1 | Dec 14, 2022 |
Cataract 9 multiple types | 1 | Dec 14, 2022 |
Central core myopathy | 3 | Dec 11, 2023 |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Dec 11, 2022 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 4 | Dec 11, 2023 |
Cerebral cavernous malformation | 2 | Dec 11, 2023 |
Charcot-Marie-Tooth disease X-linked dominant 1 | 3 | Dec 11, 2023 |
Charcot-Marie-Tooth disease axonal type 2C | 1 | Dec 11, 2023 |
Charcot-Marie-Tooth disease axonal type 2K | 1 | Dec 11, 2023 |
Charcot-Marie-Tooth disease axonal type 2P | 1 | Dec 11, 2023 |
Charcot-Marie-Tooth disease type 1F | 1 | Dec 14, 2022 |
Charcot-Marie-Tooth disease type 2A2 | 1 | Dec 11, 2022 |
Charcot-Marie-Tooth disease type 4C | 4 | Dec 11, 2023 |
Charcot-Marie-Tooth disease, type IA | 1 | Dec 11, 2022 |
Cholestasis | 2 | Dec 11, 2023 |
Cholestasis, progressive familial intrahepatic, 4 | 1 | Dec 11, 2022 |
Chopra-Amiel-Gordon syndrome | 1 | Dec 11, 2023 |
Chorea-acanthocytosis | 1 | Dec 11, 2022 |
Ciliary dyskinesia, primary, 37 | 2 | Dec 11, 2023 |
Ciliary dyskinesia, primary, 39 | 1 | Dec 11, 2023 |
Ciliary dyskinesia, primary, 40 | 3 | Dec 11, 2023 |
Ciliary dyskinesia, primary, 41 | 1 | Dec 14, 2022 |
Ciliary dyskinesia, primary, 42 | 1 | Dec 11, 2022 |
Ciliary dyskinesia, primary, 43 | 2 | Dec 11, 2023 |
Ciliary dyskinesia, primary, 47, and lissencephaly | 1 | Dec 11, 2023 |
Citrullinemia type I | 2 | Dec 14, 2022 |
Classic homocystinuria | 3 | Dec 11, 2023 |
Cleft palate with or without ankyloglossia, X-linked | 1 | Dec 11, 2022 |
Cleidocranial dysostosis | 2 | Dec 11, 2022 |
Cobalamin C disease | 2 | Dec 14, 2022 |
Coffin-Siris syndrome | 1 | Dec 14, 2022 |
Coffin-Siris syndrome 1 | 2 | Dec 11, 2023 |
Coffin-Siris syndrome 10 | 1 | Dec 11, 2023 |
Coffin-Siris syndrome 7 | 1 | Dec 14, 2022 |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Dec 11, 2022 |
Cohen syndrome | 2 | Dec 11, 2023 |
Colorectal cancer | 1 | Dec 11, 2022 |
Colorectal cancer, hereditary nonpolyposis, type 2 | 6 | Dec 11, 2023 |
Colorectal cancer, susceptibility to, 10 | 1 | Dec 14, 2022 |
Colorectal cancer, susceptibility to, 12 | 3 | Dec 14, 2022 |
Combined immunodeficiency due to DOCK8 deficiency | 1 | Dec 14, 2022 |
Combined immunodeficiency due to LRBA deficiency | 3 | Dec 14, 2022 |
Combined malonic and methylmalonic acidemia | 1 | Dec 11, 2023 |
Combined oxidative phosphorylation defect type 21 | 1 | Dec 11, 2022 |
Combined oxidative phosphorylation defect type 23 | 1 | Dec 11, 2022 |
Combined oxidative phosphorylation deficiency 55 | 1 | Dec 11, 2023 |
Complement component 6 deficiency | 1 | Dec 11, 2023 |
Complex cortical dysplasia with other brain malformations 6 | 1 | Dec 11, 2023 |
Complex neurodevelopmental disorder | 2 | Dec 11, 2023 |
Cone-rod dystrophy 2 | 1 | Dec 11, 2023 |
Cone-rod dystrophy 3 | 6 | Dec 14, 2022 |
Cone-rod dystrophy 5 | 1 | Dec 14, 2022 |
Cone-rod dystrophy 6 | 1 | Dec 14, 2022 |
Congenital amegakaryocytic thrombocytopenia | 1 | Dec 14, 2022 |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Dec 11, 2022 |
Congenital anomaly of kidney and urinary tract | 1 | Dec 14, 2022 |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Dec 11, 2022 |
Congenital contractural arachnodactyly | 1 | Dec 11, 2023 |
Congenital diarrhea 7 with exudative enteropathy | 1 | Dec 14, 2022 |
Congenital dyserythropoietic anemia type 4 | 1 | Dec 11, 2023 |
Congenital factor VII deficiency | 5 | Dec 11, 2023 |
Congenital heart defects and ectodermal dysplasia | 1 | Dec 11, 2022 |
Congenital heart defects and skeletal malformations syndrome | 1 | Dec 14, 2022 |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | Dec 11, 2023 |
Congenital hereditary endothelial dystrophy of cornea | 1 | Dec 11, 2022 |
Congenital muscular hypertrophy-cerebral syndrome | 1 | Dec 11, 2022 |
Congenital myasthenic syndrome | 2 | Dec 11, 2023 |
Congenital myasthenic syndrome 11 | 1 | Dec 11, 2022 |
Congenital myasthenic syndrome 16 | 1 | Dec 11, 2023 |
Congenital myasthenic syndrome 7 | 1 | Dec 14, 2022 |
Congenital myasthenic syndrome 8 | 1 | Dec 11, 2022 |
Congenital myasthenic syndrome 9 | 1 | Dec 11, 2023 |
Congenital myopathy | 2 | Dec 11, 2023 |
Congenital myotonia, autosomal dominant form | 1 | Dec 11, 2022 |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 | Dec 11, 2022 |
Congenital secretory diarrhea, chloride type | 3 | Dec 14, 2022 |
Congenital stationary night blindness 1C | 2 | Dec 14, 2022 |
Congenital stationary night blindness 2A | 4 | Dec 14, 2022 |
Corneal dystrophy | 1 | Dec 11, 2023 |
Corneal dystrophy, Meesmann, 1 | 2 | Dec 11, 2022 |
Cornelia de Lange syndrome 1 | 4 | Dec 11, 2023 |
Cornelia de Lange syndrome 4 | 1 | Dec 14, 2022 |
Costello syndrome | 1 | Dec 11, 2022 |
Cough | 1 | Dec 11, 2022 |
Cowden syndrome 1 | 2 | Dec 11, 2023 |
Creatine transporter deficiency | 1 | Dec 11, 2022 |
Crigler-Najjar syndrome, type II | 1 | Dec 14, 2022 |
Cyclical neutropenia | 2 | Dec 11, 2023 |
Cystic fibrosis | 8 | Dec 11, 2023 |
Cystinuria | 1 | Dec 11, 2022 |
DICER1-related tumor predisposition | 1 | Dec 11, 2023 |
De Lange syndrome | 1 | Dec 14, 2022 |
DeSanto-Shinawi syndrome due to WAC point mutation | 1 | Dec 11, 2023 |
Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Dec 11, 2022 |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 3 | Dec 11, 2022 |
Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Dec 11, 2022 |
Deficiency of butyryl-CoA dehydrogenase | 2 | Dec 14, 2022 |
Deficiency of cytochrome-b5 reductase | 2 | Dec 11, 2023 |
Deficiency of hydroxymethylglutaryl-CoA lyase | 2 | Dec 11, 2023 |
Deficiency of iodide peroxidase | 2 | Dec 11, 2023 |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Dec 11, 2023 |
Desmoid tumor | 1 | Dec 11, 2023 |
Developmental and epileptic encephalopathy, 11 | 1 | Dec 11, 2022 |
Developmental and epileptic encephalopathy, 17 | 1 | Dec 14, 2022 |
Developmental and epileptic encephalopathy, 27 | 1 | Dec 14, 2022 |
Developmental and epileptic encephalopathy, 31A | 2 | Dec 11, 2023 |
Developmental and epileptic encephalopathy, 32 | 1 | Dec 14, 2022 |
Developmental and epileptic encephalopathy, 4 | 1 | Dec 11, 2022 |
Developmental and epileptic encephalopathy, 42 | 2 | Dec 14, 2022 |
Developmental and epileptic encephalopathy, 54 | 1 | Dec 11, 2022 |
Developmental and epileptic encephalopathy, 57 | 1 | Dec 14, 2022 |
Developmental and epileptic encephalopathy, 66 | 1 | Dec 11, 2023 |
Developmental and epileptic encephalopathy, 74 | 1 | Dec 11, 2022 |
Developmental and epileptic encephalopathy, 80 | 1 | Dec 11, 2022 |
Developmental and epileptic encephalopathy, 81 | 1 | Dec 11, 2022 |
Developmental delay with autism spectrum disorder and gait instability | 2 | Dec 11, 2022 |
Developmental delay with or without dysmorphic facies and autism | 1 | Dec 14, 2022 |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Dec 11, 2023 |
Developmental delay with variable neurologic and brain abnormalities | 1 | Dec 11, 2023 |
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Dec 11, 2023 |
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Dec 11, 2023 |
Diamond-Blackfan anemia 3 | 1 | Dec 11, 2022 |
Diamond-Blackfan anemia 6 | 1 | Dec 14, 2022 |
Dias-Logan syndrome | 1 | Dec 11, 2022 |
Dilated cardiomyopathy 1A | 1 | Dec 11, 2023 |
Dilated cardiomyopathy 1C | 1 | Dec 14, 2022 |
Dilated cardiomyopathy 1E | 1 | Dec 11, 2023 |
Dilated cardiomyopathy 1G | 4 | Dec 11, 2023 |
Dilated cardiomyopathy 1O | 1 | Dec 14, 2022 |
Dilated cardiomyopathy 1Y | 1 | Dec 14, 2022 |
Dilated cardiomyopathy 1Z | 1 | Dec 14, 2022 |
Distal arthrogryposis | 1 | Dec 11, 2023 |
Distal arthrogryposis type 5D | 1 | Dec 14, 2022 |
Dominant beta-thalassemia | 2 | Dec 11, 2022 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Dec 11, 2023 |
Drash syndrome | 1 | Dec 11, 2023 |
Dubin-Johnson syndrome | 2 | Dec 11, 2022 |
Duchenne muscular dystrophy | 1 | Dec 14, 2022 |
Dyskeratosis congenita, autosomal dominant 2 | 3 | Dec 11, 2023 |
Dyskeratosis congenita, autosomal dominant 3 | 1 | Dec 11, 2023 |
Dyskeratosis congenita, autosomal recessive 5 | 1 | Dec 11, 2023 |
Dyskinesia with orofacial involvement, autosomal dominant | 1 | Dec 11, 2022 |
Dystonia 23 | 1 | Dec 11, 2023 |
Early-onset Parkinson disease 20 | 2 | Dec 11, 2023 |
Ectopia lentis 2, isolated, autosomal recessive | 3 | Dec 14, 2022 |
Ehlers-Danlos syndrome, classic type, 1 | 2 | Dec 14, 2022 |
Ehlers-Danlos syndrome, classic type, 2 | 2 | Dec 11, 2023 |
Ehlers-Danlos syndrome, type 4 | 5 | Dec 11, 2023 |
Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Dec 11, 2022 |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 1 | Dec 11, 2023 |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Dec 11, 2022 |
Enhanced S-cone syndrome | 1 | Dec 11, 2022 |
Enterokinase deficiency | 1 | Dec 11, 2023 |
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 1 | Dec 11, 2022 |
Epilepsy, familial focal, with variable foci 1 | 2 | Dec 11, 2023 |
Epilepsy, familial focal, with variable foci 2 | 1 | Dec 11, 2022 |
Epilepsy, familial focal, with variable foci 4 | 2 | Dec 14, 2022 |
Episodic ataxia type 1 | 1 | Dec 11, 2022 |
Episodic ataxia type 2 | 1 | Dec 14, 2022 |
Epithelial-stromal TGFBI dystrophy | 4 | Dec 14, 2022 |
Euthyroid goiter | 1 | Dec 11, 2022 |
Exostoses, multiple, type 1 | 1 | Dec 11, 2022 |
Exostoses, multiple, type 2 | 1 | Dec 14, 2022 |
Exudative vitreoretinopathy 1 | 1 | Dec 14, 2022 |
Exudative vitreoretinopathy 5 | 1 | Dec 11, 2022 |
Factor V deficiency | 1 | Dec 14, 2022 |
Familial Mediterranean fever | 3 | Dec 11, 2023 |
Familial Mediterranean fever, autosomal dominant | 1 | Dec 11, 2023 |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 | Dec 11, 2023 |
Familial adenomatous polyposis 1 | 2 | Dec 11, 2023 |
Familial adenomatous polyposis 2 | 3 | Dec 11, 2023 |
Familial adenomatous polyposis 3 | 2 | Dec 11, 2023 |
Familial cancer of breast | 84 | Dec 11, 2023 |
Familial cold autoinflammatory syndrome | 1 | Dec 14, 2022 |
Familial cold autoinflammatory syndrome 1 | 1 | Dec 11, 2023 |
Familial cold autoinflammatory syndrome 2 | 3 | Dec 11, 2023 |
Familial dysfibrinogenemia | 5 | Dec 11, 2023 |
Familial expansile osteolysis | 1 | Dec 11, 2022 |
Familial hemophagocytic lymphohistiocytosis 2 | 1 | Dec 11, 2023 |
Familial hemophagocytic lymphohistiocytosis 3 | 2 | Dec 11, 2022 |
Familial hemophagocytic lymphohistiocytosis 5 | 2 | Dec 14, 2022 |
Familial hyperthyroidism due to mutations in TSH receptor | 2 | Dec 14, 2022 |
Familial hypocalciuric hypercalcemia 1 | 3 | Dec 11, 2023 |
Familial hypocalciuric hypercalcemia 3 | 2 | Dec 11, 2023 |
Familial hypokalemia-hypomagnesemia | 2 | Dec 11, 2023 |
Familial infantile myasthenia | 1 | Dec 11, 2023 |
Familial medullary thyroid carcinoma | 4 | Dec 11, 2023 |
Familial meningioma | 3 | Dec 11, 2023 |
Familial ovarian cancer | 2 | Dec 11, 2023 |
Familial porphyria cutanea tarda | 1 | Dec 11, 2023 |
Familial spontaneous pneumothorax | 2 | Dec 11, 2023 |
Familial thoracic aortic aneurysm and aortic dissection | 3 | Dec 11, 2023 |
Familial visceral amyloidosis, Ostertag type | 1 | Dec 14, 2022 |
Fanconi anemia complementation group A | 2 | Dec 14, 2022 |
Fanconi anemia complementation group D1 | 1 | Dec 11, 2023 |
Fanconi anemia complementation group D2 | 1 | Dec 11, 2023 |
Fanconi anemia complementation group G | 1 | Dec 14, 2022 |
Fanconi anemia complementation group N | 1 | Dec 14, 2022 |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2 | Dec 11, 2022 |
Farber lipogranulomatosis | 1 | Dec 11, 2022 |
Fetal akinesia deformation sequence 2 | 2 | Dec 14, 2022 |
Filippi syndrome | 1 | Dec 11, 2023 |
Finnish type amyloidosis | 2 | Dec 14, 2022 |
Fleck corneal dystrophy | 2 | Dec 14, 2022 |
Floating-Harbor syndrome | 1 | Dec 11, 2023 |
Fragile X syndrome | 1 | Dec 11, 2022 |
Freeman-Sheldon syndrome | 1 | Dec 11, 2022 |
Frontometaphyseal dysplasia 1 | 1 | Dec 14, 2022 |
Frontotemporal dementia | 1 | Dec 11, 2022 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Dec 11, 2022 |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | 1 | Dec 11, 2022 |
GAPO syndrome | 1 | Dec 11, 2023 |
GNE myopathy | 1 | Dec 11, 2022 |
Galloway-Mowat syndrome 1 | 1 | Dec 11, 2023 |
Gastrointestinal stromal tumor | 1 | Dec 11, 2023 |
Gaucher disease | 1 | Dec 14, 2022 |
Gaucher disease perinatal lethal | 1 | Dec 11, 2022 |
Glanzmann thrombasthenia 1 | 2 | Dec 14, 2022 |
Glaucoma 1, open angle, A | 6 | Dec 14, 2022 |
Glaucoma 3A | 2 | Dec 11, 2022 |
Glioma susceptibility 1 | 1 | Dec 11, 2022 |
Global developmental delay | 1 | Dec 11, 2022 |
Glutaric aciduria, type 1 | 1 | Dec 11, 2022 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 | Dec 11, 2022 |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Dec 11, 2022 |
Glycogen storage disease type III | 4 | Dec 11, 2023 |
Glycogen storage disease, type II | 2 | Dec 11, 2023 |
Glycogen storage disease, type IV | 1 | Dec 11, 2022 |
Glycogen storage disease, type V | 1 | Dec 14, 2022 |
Gorlin syndrome | 2 | Dec 11, 2023 |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 | Dec 11, 2022 |
Gray platelet syndrome | 1 | Dec 11, 2023 |
Groenouw corneal dystrophy type I | 1 | Dec 11, 2022 |
Growth delay due to insulin-like growth factor I resistance | 1 | Dec 11, 2023 |
HER2 positive breast carcinoma | 1 | Dec 14, 2022 |
Harel-Yoon syndrome | 2 | Dec 11, 2023 |
Hb SS disease | 1 | Dec 11, 2022 |
Hemorrhage, intracerebral, susceptibility to | 1 | Dec 14, 2022 |
Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 | Dec 11, 2022 |
Hepatic methionine adenosyltransferase deficiency | 1 | Dec 11, 2023 |
Hereditary antithrombin deficiency | 4 | Dec 11, 2023 |
Hereditary breast ovarian cancer syndrome | 1 | Dec 14, 2022 |
Hereditary cavernous hemangioma of brain | 1 | Dec 11, 2023 |
Hereditary coproporphyria | 1 | Dec 14, 2022 |
Hereditary factor IX deficiency disease | 6 | Dec 11, 2023 |
Hereditary factor VIII deficiency disease | 52 | Dec 11, 2023 |
Hereditary factor XI deficiency disease | 4 | Dec 11, 2023 |
Hereditary hemorrhagic telangiectasia | 1 | Dec 11, 2023 |
Hereditary hyperferritinemia with congenital cataracts | 1 | Dec 11, 2022 |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | 1 | Dec 14, 2022 |
Hereditary leiomyomatosis and renal cell cancer | 2 | Dec 14, 2022 |
Hereditary nonpolyposis colorectal carcinoma | 1 | Dec 11, 2022 |
Hereditary pheochromocytoma-paraganglioma | 3 | Dec 14, 2022 |
Hereditary retinoblastoma | 4 | Dec 14, 2022 |
Hereditary spastic paraplegia 15 | 1 | Dec 11, 2022 |
Hereditary spastic paraplegia 30 | 1 | Dec 14, 2022 |
Hereditary spastic paraplegia 4 | 3 | Dec 11, 2023 |
Hereditary spastic paraplegia 7 | 3 | Dec 11, 2023 |
Hereditary thrombophilia due to congenital protein S deficiency | 1 | Dec 11, 2023 |
Hereditary von Willebrand disease | 7 | Dec 11, 2023 |
Hermansky-Pudlak syndrome | 1 | Dec 14, 2022 |
Hermansky-Pudlak syndrome 1 | 1 | Dec 11, 2023 |
Hermansky-Pudlak syndrome 6 | 3 | Dec 11, 2023 |
Hermansky-Pudlak syndrome 7 | 1 | Dec 11, 2022 |
Heterotopia, periventricular, X-linked dominant | 1 | Dec 11, 2022 |
Hidrotic ectodermal dysplasia syndrome | 1 | Dec 11, 2023 |
Hirschsprung disease, susceptibility to, 1 | 1 | Dec 14, 2022 |
Hirschsprung disease, susceptibility to, 4 | 1 | Dec 14, 2022 |
Holoprosencephaly 11 | 1 | Dec 14, 2022 |
Holoprosencephaly 3 | 1 | Dec 11, 2023 |
Holt-Oram syndrome | 1 | Dec 11, 2022 |
Hoyeraal-Hreidarsson syndrome | 1 | Dec 11, 2023 |
Hydatidiform mole, recurrent, 1 | 1 | Dec 11, 2023 |
Hydrocephalus, congenital, 3, with brain anomalies | 2 | Dec 11, 2022 |
Hypercalcemia | 2 | Dec 11, 2022 |
Hypercholesterolemia, autosomal dominant, type B | 4 | Dec 11, 2023 |
Hypercholesterolemia, familial, 1 | 13 | Dec 11, 2023 |
Hyperekplexia 1 | 1 | Dec 14, 2022 |
Hyperimmunoglobulin D with periodic fever | 1 | Dec 14, 2022 |
Hyperinsulinemic hypoglycemia, familial, 1 | 3 | Dec 11, 2023 |
Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Dec 11, 2023 |
Hyperinsulinism due to INSR deficiency | 2 | Dec 11, 2023 |
Hyperinsulinism-hyperammonemia syndrome | 2 | Dec 14, 2022 |
Hyperlipidemia, familial combined, LPL related | 2 | Dec 14, 2022 |
Hyperparathyroidism | 1 | Dec 14, 2022 |
Hyperparathyroidism 1 | 1 | Dec 11, 2022 |
Hyperparathyroidism 4 | 1 | Dec 11, 2022 |
Hypertrichotic osteochondrodysplasia Cantu type | 1 | Dec 14, 2022 |
Hypertrophic cardiomyopathy | 10 | Dec 11, 2023 |
Hypertrophic cardiomyopathy 1 | 10 | Dec 11, 2023 |
Hypertrophic cardiomyopathy 11 | 1 | Dec 11, 2023 |
Hypertrophic cardiomyopathy 12 | 2 | Dec 14, 2022 |
Hypertrophic cardiomyopathy 2 | 1 | Dec 14, 2022 |
Hypertrophic cardiomyopathy 20 | 1 | Dec 14, 2022 |
Hypertrophic cardiomyopathy 21 | 1 | Dec 11, 2023 |
Hypertrophic cardiomyopathy 26 | 2 | Dec 14, 2022 |
Hypertrophic cardiomyopathy 4 | 8 | Dec 11, 2023 |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 11, 2023 |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | 1 | Dec 14, 2022 |
Hypokalemic periodic paralysis, type 1 | 1 | Dec 11, 2023 |
Hypomyelinating leukodystrophy 6 | 2 | Dec 11, 2023 |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 3 | Dec 11, 2023 |
Hypomyelinating leukodystrophy 9 | 1 | Dec 11, 2022 |
Hypophosphatasia | 4 | Dec 11, 2023 |
Hypothyroidism due to TSH receptor mutations | 4 | Dec 11, 2023 |
Hypothyroidism, congenital, nongoitrous, 2 | 1 | Dec 11, 2023 |
Hypothyroidism, congenital, nongoitrous, 8 | 1 | Dec 14, 2022 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies | 1 | Dec 14, 2022 |
Idiopathic basal ganglia calcification 1 | 1 | Dec 11, 2023 |
Immunodeficiency 14 | 3 | Dec 11, 2023 |
Immunodeficiency 62 | 3 | Dec 11, 2023 |
Immunodeficiency, common variable, 12 | 3 | Dec 11, 2023 |
Immunodeficiency, common variable, 3 | 1 | Dec 11, 2022 |
Immunodeficiency, common variable, 4 | 1 | Dec 11, 2022 |
Infantile epilepsy syndrome | 1 | Dec 11, 2023 |
Infantile liver failure syndrome 2 | 1 | Dec 14, 2022 |
Inherited obesity | 1 | Dec 11, 2023 |
Intellectual developmental disorder 61 | 2 | Dec 11, 2023 |
Intellectual developmental disorder 62 | 1 | Dec 11, 2022 |
Intellectual developmental disorder with autism and macrocephaly | 1 | Dec 11, 2022 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 11, 2023 |
Intellectual developmental disorder with dysmorphic facies and ptosis | 2 | Dec 11, 2022 |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Dec 11, 2023 |
Intellectual developmental disorder with seizures and language delay | 1 | Dec 11, 2022 |
Intellectual developmental disorder, X-linked 108 | 1 | Dec 11, 2023 |
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Dec 11, 2023 |
Intellectual disability | 2 | Dec 11, 2023 |
Intellectual disability, X-linked 102 | 2 | Dec 11, 2023 |
Intellectual disability, X-linked 99 | 1 | Dec 11, 2022 |
Intellectual disability, X-linked syndromic, Turner type | 2 | Dec 14, 2022 |
Intellectual disability, X-linked, syndromic 33 | 1 | Dec 11, 2023 |
Intellectual disability, X-linked, syndromic, Bain type | 1 | Dec 11, 2022 |
Intellectual disability, autosomal dominant 13 | 2 | Dec 14, 2022 |
Intellectual disability, autosomal dominant 14 | 1 | Dec 11, 2022 |
Intellectual disability, autosomal dominant 16 | 3 | Dec 14, 2022 |
Intellectual disability, autosomal dominant 24 | 1 | Dec 11, 2022 |
Intellectual disability, autosomal dominant 30 | 1 | Dec 11, 2023 |
Intellectual disability, autosomal dominant 39 | 1 | Dec 14, 2022 |
Intellectual disability, autosomal dominant 40 | 2 | Dec 14, 2022 |
Intellectual disability, autosomal dominant 43 | 1 | Dec 11, 2022 |
Intellectual disability, autosomal dominant 47 | 1 | Dec 11, 2023 |
Intellectual disability, autosomal dominant 50 | 2 | Dec 11, 2023 |
Intellectual disability, autosomal dominant 56 | 1 | Dec 11, 2023 |
Intellectual disability, autosomal dominant 57 | 1 | Dec 14, 2022 |
Intellectual disability, autosomal dominant 6 | 3 | Dec 11, 2023 |
Intellectual disability, autosomal dominant 8 | 2 | Dec 14, 2022 |
Intellectual disability, autosomal dominant 9 | 1 | Dec 11, 2022 |
Intellectual disability, autosomal recessive 65 | 1 | Dec 11, 2022 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Dec 11, 2022 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Dec 11, 2022 |
Interstitial lung disease due to ABCA3 deficiency | 3 | Dec 11, 2023 |
Iodotyrosyl coupling defect | 4 | Dec 11, 2023 |
Islet cell adenomatosis | 1 | Dec 14, 2022 |
Jervell and Lange-Nielsen syndrome 1 | 2 | Dec 11, 2023 |
Jervell and Lange-Nielsen syndrome 2 | 1 | Dec 14, 2022 |
Joubert syndrome 3 | 1 | Dec 14, 2022 |
Juvenile myelomonocytic leukemia | 1 | Dec 11, 2023 |
Juvenile polyposis syndrome | 1 | Dec 11, 2023 |
Juvenile retinoschisis | 1 | Dec 11, 2022 |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 2 | Dec 14, 2022 |
KBG syndrome | 6 | Dec 11, 2023 |
Kabuki syndrome 1 | 6 | Dec 11, 2023 |
Kabuki syndrome 2 | 1 | Dec 11, 2022 |
Kleefstra syndrome 1 | 1 | Dec 11, 2023 |
Kostmann syndrome | 1 | Dec 14, 2022 |
LRP5-related primary osteoporosis | 1 | Dec 14, 2022 |
Lafora disease | 1 | Dec 11, 2023 |
Leber congenital amaurosis 1 | 1 | Dec 11, 2022 |
Leber congenital amaurosis 4 | 1 | Dec 14, 2022 |
Left ventricular noncompaction 8 | 1 | Dec 14, 2022 |
Leri-Weill dyschondrosteosis | 1 | Dec 11, 2022 |
Lessel-Kreienkamp syndrome | 1 | Dec 14, 2022 |
Lethal congenital glycogen storage disease of heart | 1 | Dec 14, 2022 |
Leukocyte adhesion deficiency | 1 | Dec 14, 2022 |
Leukodystrophy and acquired microcephaly with or without dystonia; | 1 | Dec 11, 2022 |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Dec 11, 2022 |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 3 | Dec 11, 2023 |
Li-Fraumeni syndrome | 1 | Dec 14, 2022 |
Li-Fraumeni syndrome 1 | 2 | Dec 14, 2022 |
Lissencephaly 9 with complex brainstem malformation | 1 | Dec 11, 2022 |
Loeys-Dietz syndrome 4 | 1 | Dec 11, 2023 |
Long QT syndrome | 3 | Dec 11, 2023 |
Low phospholipid associated cholelithiasis | 1 | Dec 11, 2023 |
Lymphatic malformation 6 | 2 | Dec 11, 2022 |
Lynch syndrome | 10 | Dec 11, 2023 |
Lynch syndrome 1 | 15 | Dec 11, 2023 |
Lynch syndrome 4 | 4 | Dec 14, 2022 |
Lynch syndrome 5 | 18 | Dec 11, 2023 |
MASS syndrome | 1 | Dec 14, 2022 |
MED12-related intellectual disability syndrome | 1 | Dec 11, 2023 |
MIRAGE syndrome | 1 | Dec 14, 2022 |
Macrocephaly-autism syndrome | 2 | Dec 11, 2023 |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2 | Dec 14, 2022 |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 6 | Dec 11, 2023 |
Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Dec 11, 2023 |
Macular corneal dystrophy | 4 | Dec 14, 2022 |
Macular degeneration, X-linked atrophic | 1 | Dec 11, 2023 |
Majeed syndrome | 1 | Dec 14, 2022 |
Malan overgrowth syndrome | 1 | Dec 11, 2022 |
Malignant hyperthermia, susceptibility to, 1 | 5 | Dec 14, 2022 |
Malignant tumor of prostate | 2 | Dec 11, 2023 |
Mandibulofacial dysostosis-microcephaly syndrome | 3 | Dec 11, 2023 |
Marden-Walker syndrome | 1 | Dec 14, 2022 |
Marfan syndrome | 8 | Dec 11, 2023 |
Maturity-onset diabetes of the young type 1 | 2 | Dec 14, 2022 |
Maturity-onset diabetes of the young type 11 | 1 | Dec 14, 2022 |
Maturity-onset diabetes of the young type 2 | 11 | Dec 11, 2023 |
Maturity-onset diabetes of the young type 3 | 3 | Dec 14, 2022 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Dec 11, 2023 |
Medulloblastoma | 1 | Dec 11, 2023 |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | Dec 14, 2022 |
Melanoma-pancreatic cancer syndrome | 1 | Dec 11, 2022 |
Melnick-Needles syndrome | 1 | Dec 11, 2023 |
Menke-Hennekam syndrome 1 | 2 | Dec 11, 2022 |
Menke-Hennekam syndrome 2 | 1 | Dec 11, 2023 |
Merosin deficient congenital muscular dystrophy | 2 | Dec 11, 2022 |
Metaphyseal chondrodysplasia, Jansen type | 1 | Dec 11, 2023 |
Methylmalonic acidemia with homocystinuria, type cblJ | 1 | Dec 11, 2022 |
Methylmalonic aciduria and homocystinuria type cblD | 1 | Dec 14, 2022 |
Microcephaly 5, primary, autosomal recessive | 1 | Dec 11, 2022 |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Dec 14, 2022 |
Microcephaly, seizures, and developmental delay | 1 | Dec 11, 2023 |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Dec 11, 2023 |
Mismatch repair cancer syndrome 1 | 1 | Dec 11, 2023 |
Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Dec 11, 2022 |
Mitochondrial DNA depletion syndrome 4b | 1 | Dec 11, 2023 |
Mitochondrial complex II deficiency, nuclear type 1 | 2 | Dec 11, 2023 |
Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Dec 11, 2022 |
Mitochondrial trifunctional protein deficiency | 2 | Dec 11, 2022 |
Monogenic diabetes | 1 | Dec 14, 2022 |
Monosomy 7 myelodysplasia and leukemia syndrome 2 | 1 | Dec 11, 2023 |
Mucopolysaccharidosis, MPS-III-A | 4 | Dec 14, 2022 |
Muenke syndrome | 1 | Dec 11, 2022 |
Muir-Torré syndrome | 3 | Dec 11, 2023 |
Mullegama-Klein-Martinez syndrome | 1 | Dec 14, 2022 |
Multiple endocrine neoplasia type 2A | 7 | Dec 11, 2023 |
Multiple endocrine neoplasia, type 1 | 3 | Dec 11, 2023 |
Multiple endocrine neoplasia, type 2 | 5 | Dec 14, 2022 |
Multiple epiphyseal dysplasia type 5 | 1 | Dec 11, 2023 |
Muscular dystrophy, limb-girdle, autosomal recessive 23 | 1 | Dec 14, 2022 |
Muscular dystrophy, limb-girdle, autosomal recessive 27 | 1 | Dec 14, 2022 |
Myelodysplastic syndrome | 1 | Dec 11, 2022 |
Myofibrillar myopathy 10 | 2 | Dec 11, 2022 |
Myofibrillar myopathy 2 | 1 | Dec 14, 2022 |
Myofibromatosis, infantile, 2 | 2 | Dec 14, 2022 |
Myoglobinuria, acute recurrent, autosomal recessive | 1 | Dec 14, 2022 |
Nail-patella syndrome | 2 | Dec 11, 2022 |
Nemaline myopathy 2 | 5 | Dec 14, 2022 |
Neonatal severe primary hyperparathyroidism | 1 | Dec 14, 2022 |
Nephrotic syndrome, type 2 | 2 | Dec 11, 2023 |
Netherton syndrome | 2 | Dec 11, 2023 |
Neurodegeneration with brain iron accumulation 5 | 2 | Dec 11, 2022 |
Neurodegeneration, infantile-onset, biotin-responsive | 1 | Dec 11, 2022 |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Dec 11, 2022 |
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Dec 11, 2023 |
Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Dec 11, 2022 |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Dec 14, 2022 |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Dec 11, 2022 |
Neurodevelopmental disorder with or without seizures and gait abnormalities | 1 | Dec 11, 2023 |
Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Dec 11, 2023 |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 1 | Dec 11, 2022 |
Neurofibromatosis, type 1 | 14 | Dec 11, 2023 |
Neurofibromatosis, type 2 | 12 | Dec 11, 2023 |
Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Dec 11, 2023 |
Neutropenia | 1 | Dec 14, 2022 |
Neutropenia, severe congenital, 1, autosomal dominant | 1 | Dec 11, 2022 |
Neutropenia, severe congenital, 8, autosomal dominant | 1 | Dec 11, 2022 |
Nicolaides-Baraitser syndrome | 1 | Dec 11, 2022 |
Nizon-Isidor syndrome | 2 | Dec 11, 2023 |
Non-ketotic hyperglycinemia | 2 | Dec 11, 2023 |
Noonan syndrome | 1 | Dec 14, 2022 |
Noonan syndrome 1 | 9 | Dec 11, 2023 |
Noonan syndrome 10 | 2 | Dec 11, 2023 |
Noonan syndrome 2 | 1 | Dec 11, 2023 |
Noonan syndrome 4 | 2 | Dec 11, 2022 |
Noonan syndrome 8 | 1 | Dec 11, 2022 |
Obesity due to leptin receptor gene deficiency | 1 | Dec 14, 2022 |
Oculocutaneous albinism | 1 | Dec 14, 2022 |
Okur-Chung neurodevelopmental syndrome | 1 | Dec 11, 2023 |
Ornithine carbamoyltransferase deficiency | 1 | Dec 11, 2023 |
Osteochondritis dissecans | 1 | Dec 14, 2022 |
Osteogenesis imperfecta type I | 3 | Dec 14, 2022 |
Osteogenesis imperfecta, perinatal lethal | 1 | Dec 14, 2022 |
Ovarian neoplasm | 3 | Dec 11, 2022 |
PMM2-congenital disorder of glycosylation | 1 | Dec 11, 2022 |
PTEN hamartoma tumor syndrome | 1 | Dec 11, 2023 |
Palmoplantar keratoderma, Nagashima type | 1 | Dec 14, 2022 |
Pancreatic cancer, susceptibility to, 3 | 1 | Dec 11, 2022 |
Papillary renal cell carcinoma type 1 | 1 | Dec 14, 2022 |
Paragangliomas 1 | 2 | Dec 11, 2023 |
Paragangliomas 3 | 1 | Dec 14, 2022 |
Paragangliomas 4 | 2 | Dec 11, 2023 |
Paragangliomas 5 | 1 | Dec 11, 2022 |
Paramyotonia congenita of Von Eulenburg | 1 | Dec 14, 2022 |
Parkinsonian disorder | 1 | Dec 11, 2022 |
Paroxysmal nonkinesigenic dyskinesia 1 | 2 | Dec 11, 2022 |
Pendred syndrome | 2 | Dec 11, 2022 |
Peritoneum cancer | 1 | Dec 11, 2023 |
Peters plus syndrome | 1 | Dec 11, 2022 |
Pfeiffer syndrome | 1 | Dec 11, 2023 |
Phenylketonuria | 6 | Dec 14, 2022 |
Phytanic acid storage disease | 1 | Dec 11, 2022 |
Pilarowski-Bjornsson syndrome | 1 | Dec 11, 2023 |
Pilomatrixoma | 1 | Dec 11, 2022 |
Pitt-Hopkins syndrome | 1 | Dec 11, 2022 |
Pitt-Hopkins-like syndrome 2 | 2 | Dec 14, 2022 |
Platelet-type bleeding disorder 10 | 1 | Dec 11, 2022 |
Platelet-type bleeding disorder 16 | 1 | Dec 11, 2022 |
Platelet-type bleeding disorder 17 | 3 | Aug 19, 2024 |
Platelet-type bleeding disorder 18 | 1 | Dec 11, 2023 |
Platelet-type bleeding disorder 20 | 1 | Dec 14, 2022 |
Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Dec 14, 2022 |
Polycystic kidney disease 4 | 3 | Dec 14, 2022 |
Polycystic kidney disease, adult type | 4 | Dec 14, 2022 |
Polyglandular autoimmune syndrome, type 1 | 3 | Dec 11, 2023 |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 2 | Dec 11, 2023 |
Polymorphous corneal dystrophy | 1 | Dec 14, 2022 |
Polyposis syndrome, hereditary mixed, 2 | 1 | Dec 14, 2022 |
Pontocerebellar hypoplasia type 1B | 2 | Dec 11, 2022 |
Popliteal pterygium syndrome | 1 | Dec 14, 2022 |
Porencephaly 2 | 1 | Dec 11, 2022 |
Posterior polymorphous corneal dystrophy 1 | 1 | Dec 11, 2022 |
Posterior polymorphous corneal dystrophy 3 | 1 | Dec 11, 2023 |
Primary ciliary dyskinesia | 4 | Dec 11, 2023 |
Primary ciliary dyskinesia 11 | 1 | Dec 14, 2022 |
Primary ciliary dyskinesia 14 | 1 | Dec 11, 2022 |
Primary ciliary dyskinesia 15 | 4 | Dec 14, 2022 |
Primary ciliary dyskinesia 17 | 1 | Dec 14, 2022 |
Primary ciliary dyskinesia 18 | 3 | Dec 11, 2023 |
Primary ciliary dyskinesia 20 | 1 | Dec 11, 2022 |
Primary ciliary dyskinesia 23 | 2 | Dec 14, 2022 |
Primary ciliary dyskinesia 25 | 1 | Dec 11, 2022 |
Primary ciliary dyskinesia 29 | 1 | Dec 11, 2023 |
Primary ciliary dyskinesia 3 | 11 | Dec 14, 2022 |
Primary ciliary dyskinesia 30 | 1 | Dec 14, 2022 |
Primary ciliary dyskinesia 33 | 3 | Dec 14, 2022 |
Primary ciliary dyskinesia 5 | 5 | Dec 14, 2022 |
Primary ciliary dyskinesia 7 | 14 | Dec 11, 2023 |
Primary ciliary dyskinesia 9 | 1 | Dec 14, 2022 |
Primary dilated cardiomyopathy | 9 | Dec 11, 2023 |
Primary myelofibrosis | 1 | Dec 14, 2022 |
Primrose syndrome | 1 | Dec 11, 2023 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Dec 14, 2022 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 3 | Dec 11, 2023 |
Progressive familial intrahepatic cholestasis | 2 | Dec 14, 2022 |
Progressive familial intrahepatic cholestasis type 1 | 2 | Dec 11, 2022 |
Progressive familial intrahepatic cholestasis type 3 | 1 | Dec 11, 2023 |
Progressive sclerosing poliodystrophy | 1 | Dec 14, 2022 |
Prostate cancer, hereditary, 9 | 1 | Dec 11, 2022 |
Protan defect | 1 | Dec 14, 2022 |
Protoporphyria, erythropoietic, 1 | 1 | Dec 11, 2022 |
Pseudo von Willebrand disease | 2 | Dec 14, 2022 |
Pseudohypoparathyroidism type I A | 1 | Dec 11, 2022 |
Psoriasis 2 | 1 | Dec 14, 2022 |
Ptosis, hereditary congenital, 1 | 1 | Dec 11, 2023 |
Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Dec 11, 2023 |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2 | Dec 11, 2023 |
Pulmonary hypertension, primary, 1 | 1 | Dec 11, 2022 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Dec 14, 2022 |
Pyruvate dehydrogenase E1-alpha deficiency | 1 | Dec 11, 2023 |
Pyruvate kinase deficiency of red cells | 2 | Dec 11, 2023 |
RAB23-related Carpenter syndrome | 2 | Dec 14, 2022 |
RASopathy | 1 | Dec 11, 2023 |
RPE65-related recessive retinopathy | 4 | Dec 14, 2022 |
RYR1-related myopathy | 1 | Dec 14, 2022 |
Renal carnitine transport defect | 1 | Dec 11, 2022 |
Renal cysts and diabetes syndrome | 1 | Dec 11, 2022 |
Renal-hepatic-pancreatic dysplasia 1 | 1 | Dec 11, 2022 |
Respiratory infections, recurrent, and failure to thrive with or without diarrhea | 1 | Dec 11, 2023 |
Retinal dystrophy | 6 | Dec 14, 2022 |
Retinitis pigmentosa | 4 | Dec 14, 2022 |
Retinitis pigmentosa 1 | 4 | Dec 14, 2022 |
Retinitis pigmentosa 11 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 13 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 19 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 2 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 25 | 3 | Dec 14, 2022 |
Retinitis pigmentosa 28 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 3 | 1 | Dec 11, 2023 |
Retinitis pigmentosa 37 | 1 | Dec 11, 2023 |
Retinitis pigmentosa 38 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 39 | 6 | Dec 11, 2023 |
Retinitis pigmentosa 4 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 40 | 2 | Dec 14, 2022 |
Retinitis pigmentosa 42 | 1 | Dec 14, 2022 |
Retinitis pigmentosa 54 | 1 | Dec 14, 2022 |
Retinitis pigmentosa 55 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 61 | 1 | Dec 14, 2022 |
Retinitis pigmentosa 7 | 1 | Dec 14, 2022 |
Retinitis pigmentosa 73 | 1 | Dec 11, 2022 |
Retinitis pigmentosa 74 | 1 | Dec 14, 2022 |
Retinitis pigmentosa 78 | 2 | Dec 14, 2022 |
Retinitis pigmentosa 90 | 1 | Dec 14, 2022 |
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 1 | Dec 11, 2023 |
Retinoblastoma | 16 | Dec 11, 2023 |
Rett syndrome | 1 | Dec 11, 2023 |
Rhabdoid tumor predisposition syndrome 1 | 1 | Dec 14, 2022 |
Rhabdomyosarcoma, embryonal, 2 | 1 | Dec 11, 2022 |
Rienhoff syndrome | 1 | Dec 11, 2022 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 2 | Dec 11, 2023 |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Dec 11, 2023 |
Saethre-Chotzen syndrome | 1 | Dec 14, 2022 |
Sarcosine dehydrogenase deficiency | 1 | Dec 11, 2023 |
Schaaf-Yang syndrome | 1 | Dec 11, 2023 |
Schimke immuno-osseous dysplasia | 1 | Dec 11, 2023 |
Schnyder crystalline corneal dystrophy | 1 | Dec 14, 2022 |
Schwannomatosis 1 | 3 | Dec 14, 2022 |
Schwannomatosis 2 | 10 | Dec 11, 2023 |
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities | 1 | Dec 14, 2022 |
Severe combined immunodeficiency due to IKK2 deficiency | 1 | Dec 11, 2023 |
Severe early-childhood-onset retinal dystrophy | 4 | Dec 11, 2022 |
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Dec 14, 2022 |
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 2 | Dec 11, 2022 |
Shukla-Vernon syndrome | 2 | Dec 11, 2023 |
Shwachman-Diamond syndrome 1 | 1 | Dec 11, 2023 |
Sick sinus syndrome | 1 | Dec 11, 2023 |
Sifrim-Hitz-Weiss syndrome | 1 | Dec 11, 2023 |
Simpson-Golabi-Behmel syndrome type 1 | 1 | Dec 11, 2022 |
Sitosterolemia 1 | 2 | Dec 11, 2023 |
Sitosterolemia 2 | 2 | Dec 11, 2023 |
Skeletal dysplasia | 2 | Dec 11, 2022 |
Skraban-Deardorff syndrome | 1 | Dec 11, 2022 |
Smith-Lemli-Opitz syndrome | 2 | Dec 14, 2022 |
Smith-Magenis syndrome | 1 | Dec 11, 2022 |
Snijders Blok-Campeau syndrome | 2 | Dec 11, 2023 |
Sotos syndrome | 2 | Dec 11, 2023 |
Spastic ataxia 5 | 1 | Dec 11, 2023 |
Spastic paraplegia 52, autosomal recessive | 1 | Dec 14, 2022 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Dec 11, 2023 |
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Dec 14, 2022 |
Spinocerebellar ataxia 44 | 1 | Dec 11, 2022 |
Spinocerebellar ataxia 47 | 1 | Dec 11, 2022 |
Spinocerebellar ataxia 48 | 1 | Dec 11, 2022 |
Spinocerebellar ataxia type 11 | 1 | Dec 11, 2023 |
Spinocerebellar ataxia type 21 | 1 | Dec 11, 2022 |
Spinocerebellar ataxia type 29 | 1 | Dec 11, 2023 |
Spinocerebellar ataxia type 42 | 1 | Dec 11, 2022 |
Spinocerebellar ataxia type 6 | 1 | Dec 14, 2022 |
Split hand-foot malformation 6 | 1 | Dec 11, 2023 |
Spondylocarpotarsal synostosis syndrome | 1 | Dec 11, 2022 |
Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Dec 14, 2022 |
Spondyloperipheral dysplasia | 1 | Dec 14, 2022 |
Stickler syndrome type 1 | 1 | Dec 11, 2022 |
Stickler syndrome type 2 | 2 | Dec 11, 2022 |
Stickler syndrome, type 4 | 2 | Dec 11, 2023 |
Stickler syndrome, type I, nonsyndromic ocular | 2 | Dec 14, 2022 |
Sucrase-isomaltase deficiency | 2 | Dec 11, 2023 |
Syndromic X-linked intellectual disability 94 | 2 | Dec 11, 2022 |
Syndromic X-linked intellectual disability Claes-Jensen type | 3 | Dec 11, 2023 |
Syndromic X-linked intellectual disability Hedera type | 1 | Dec 11, 2022 |
Syndromic X-linked intellectual disability Lubs type | 1 | Dec 14, 2022 |
Syndromic intellectual disability | 1 | Dec 11, 2023 |
TNF receptor-associated periodic fever syndrome (TRAPS) | 2 | Dec 14, 2022 |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Dec 14, 2022 |
Telangiectasia, hereditary hemorrhagic, type 2 | 6 | Dec 11, 2023 |
Thanatophoric dysplasia type 1 | 1 | Dec 14, 2022 |
Thanatophoric dysplasia, type 2 | 1 | Dec 11, 2023 |
Thiel-Behnke corneal dystrophy | 1 | Dec 11, 2022 |
Thrombocytopenia | 3 | Dec 11, 2023 |
Thrombocytopenia 2 | 7 | Dec 11, 2023 |
Thrombocytopenia 5 | 1 | Dec 11, 2023 |
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 | Dec 11, 2022 |
Thrombophilia due to protein C deficiency, autosomal dominant | 2 | Dec 14, 2022 |
Thrombophilia due to protein S deficiency, autosomal dominant | 2 | Dec 11, 2023 |
Thyroid dyshormonogenesis 6 | 10 | Dec 11, 2023 |
Timothy syndrome | 1 | Dec 11, 2022 |
Tooth agenesis, selective, 4 | 1 | Dec 11, 2023 |
Tooth agenesis, selective, X-linked, 1 | 1 | Dec 14, 2022 |
Townes-Brocks syndrome 1 | 3 | Dec 11, 2022 |
Treacher Collins syndrome 1 | 1 | Dec 11, 2022 |
Trichorhinophalangeal dysplasia type I | 2 | Dec 11, 2023 |
Triglyceride storage disease with ichthyosis | 1 | Dec 14, 2022 |
Triosephosphate isomerase deficiency | 2 | Dec 11, 2022 |
Tuberous sclerosis 1 | 1 | Dec 11, 2022 |
Tuberous sclerosis 2 | 6 | Dec 11, 2023 |
Type 1 diabetes mellitus 20 | 2 | Dec 14, 2022 |
Type 2 diabetes mellitus | 1 | Dec 14, 2022 |
Tyrosinase-negative oculocutaneous albinism | 2 | Dec 11, 2022 |
Uncombable hair syndrome 1 | 2 | Dec 11, 2022 |
Upshaw-Schulman syndrome | 2 | Dec 14, 2022 |
Usher syndrome type 1 | 1 | Dec 11, 2023 |
Usher syndrome type 1C | 2 | Dec 14, 2022 |
Usher syndrome type 2A | 7 | Dec 14, 2022 |
Usher syndrome type 2C | 4 | Dec 14, 2022 |
Uveal melanoma | 1 | Dec 11, 2022 |
Van der Woude syndrome 1 | 1 | Dec 11, 2022 |
Vanishing white matter disease | 2 | Dec 14, 2022 |
Variegate porphyria | 2 | Dec 11, 2022 |
Vasculitis due to ADA2 deficiency | 1 | Dec 14, 2022 |
Very long chain acyl-CoA dehydrogenase deficiency | 4 | Dec 14, 2022 |
Vitelliform macular dystrophy 2 | 3 | Dec 14, 2022 |
Von Hippel-Lindau syndrome | 7 | Dec 11, 2023 |
Von Willebrand disease type 2B | 3 | Dec 11, 2023 |
Weaver syndrome | 1 | Dec 11, 2023 |
Wiedemann-Steiner syndrome | 2 | Dec 11, 2023 |
Wilms tumor 1 | 2 | Dec 11, 2023 |
Wilson disease | 3 | Dec 11, 2022 |
Wiskott-Aldrich syndrome 2 | 1 | Dec 11, 2022 |
Wolfram syndrome 1 | 1 | Dec 14, 2022 |
X-linked Alport syndrome | 5 | Dec 11, 2023 |
X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Dec 14, 2022 |
X-linked chondrodysplasia punctata 1 | 1 | Dec 11, 2022 |
X-linked cone-rod dystrophy 1 | 1 | Dec 11, 2023 |
X-linked ichthyosis with steryl-sulfatase deficiency | 3 | Dec 14, 2022 |
X-linked intellectual disability, Stocco dos Santos type | 1 | Dec 14, 2022 |
X-linked intellectual disability, van Esch type | 1 | Dec 14, 2022 |
X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Dec 11, 2022 |
X-linked intellectual disability-short stature-overweight syndrome | 1 | Dec 11, 2023 |
X-linked sideroblastic anemia 1 | 1 | Dec 11, 2023 |
Xeroderma pigmentosum, group D | 2 | Dec 11, 2022 |
alpha Thalassemia | 5 | Dec 11, 2023 |
beta Thalassemia | 2 | Dec 11, 2023 |
von Willebrand disease type 1 | 5 | Dec 11, 2023 |
von Willebrand disease type 2 | 30 | Dec 11, 2023 |
von Willebrand disease type 3 | 3 | Dec 14, 2022 |