| 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 association | 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, 31 | 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 |
| 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 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 7 | Dec 11, 2023 |
| 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 |
| Meretoja syndrome | 2 | Dec 14, 2022 |
| 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 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 |
| Neoplasm of ovary | 3 | Dec 11, 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 |
| 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 | Dec 11, 2023 |
| 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 |
