| 2-aminoadipic 2-oxoadipic aciduria | 5 | May 4, 2026 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | May 5, 2026 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 3 | May 5, 2026 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 1 | Apr 9, 2026 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 3 | May 4, 2026 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 4 | May 5, 2026 |
| 3-methylglutaconic aciduria type 1 | 1 | Apr 24, 2026 |
| 3-methylglutaconic aciduria, type VIIB | 2 | Apr 24, 2026 |
| 3M syndrome 1 | 1 | May 4, 2026 |
| 3M syndrome 2 | 5 | Apr 24, 2026 |
| 3MC syndrome 1 | 1 | Apr 9, 2026 |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 1 | May 4, 2026 |
| 46,XY sex reversal 1 | 1 | Apr 14, 2026 |
| 5-Oxoprolinase deficiency | 4 | Apr 24, 2026 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Apr 14, 2026 |
| AICA-ribosiduria | 3 | May 4, 2026 |
| ALDH18A1-related de Barsy syndrome | 1 | Apr 9, 2026 |
| ALG2-congenital disorder of glycosylation | 2 | May 5, 2026 |
| ALG3-congenital disorder of glycosylation | 3 | May 5, 2026 |
| ALG8 congenital disorder of glycosylation | 1 | Apr 2, 2025 |
| ALG9 congenital disorder of glycosylation | 1 | Apr 9, 2026 |
| Acatalasia | 1 | Apr 9, 2026 |
| Acheiropodia | 1 | Apr 9, 2026 |
| Achondrogenesis, type IA | 2 | Apr 9, 2026 |
| Achondrogenesis, type IB | 2 | May 5, 2026 |
| Achondroplasia | 1 | May 4, 2026 |
| Achromatopsia 2 | 6 | May 4, 2026 |
| Achromatopsia 3 | 1 | May 4, 2026 |
| Achromatopsia 4 | 1 | Apr 9, 2026 |
| Acral peeling skin syndrome | 4 | Apr 14, 2026 |
| Acrocallosal syndrome | 2 | May 4, 2026 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Apr 9, 2026 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2 | Apr 9, 2026 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 | Apr 9, 2026 |
| Acyl-CoA dehydrogenase 9 deficiency | 2 | Apr 24, 2026 |
| Adams-Oliver syndrome 2 | 2 | Apr 24, 2026 |
| Adams-Oliver syndrome 4 | 2 | Apr 14, 2026 |
| Adenine phosphoribosyltransferase deficiency | 2 | May 4, 2026 |
| Adenosine kinase deficiency | 1 | Apr 14, 2026 |
| Adenylosuccinate lyase deficiency | 1 | May 5, 2026 |
| Adrenoleukodystrophy | 1 | Apr 24, 2026 |
| Adult hypophosphatasia | 4 | May 4, 2026 |
| Adult polyglucosan body disease | 4 | May 4, 2026 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Apr 9, 2026 |
| Aicardi-Goutieres syndrome 1 | 2 | May 4, 2026 |
| Aicardi-Goutieres syndrome 2 | 1 | Apr 9, 2026 |
| Aicardi-Goutieres syndrome 3 | 1 | Apr 24, 2026 |
| Aicardi-Goutieres syndrome 6 | 1 | Apr 14, 2026 |
| Al Kaissi syndrome | 1 | Apr 14, 2026 |
| Al-Gazali syndrome | 2 | Apr 14, 2026 |
| Al-Raqad syndrome | 1 | Apr 9, 2026 |
| Alkaptonuria | 3 | May 5, 2026 |
| Alopecia universalis congenita | 1 | Apr 9, 2026 |
| Alopecia-intellectual disability syndrome 1 | 1 | Apr 9, 2026 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | Apr 9, 2026 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 | Apr 9, 2026 |
| Alport syndrome 3b, autosomal recessive | 2 | May 4, 2026 |
| Alstrom syndrome | 1 | May 4, 2026 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 3 | May 4, 2026 |
| Amelogenesis imperfecta type 1C | 1 | Apr 9, 2026 |
| Amelogenesis imperfecta type 1G | 2 | May 4, 2026 |
| Amelogenesis imperfecta type 1H | 3 | May 5, 2026 |
| Amelogenesis imperfecta type 2A1 | 1 | Apr 9, 2026 |
| Amelogenesis imperfecta, type 1J | 1 | Apr 14, 2026 |
| Aminoacylase 1 deficiency | 5 | May 5, 2026 |
| Amyloidosis, primary localized cutaneous, 3 | 1 | Apr 9, 2026 |
| Amyotrophic lateral sclerosis type 12 | 1 | Apr 9, 2026 |
| Amyotrophic lateral sclerosis type 5 | 3 | May 5, 2026 |
| Analbuminemia | 1 | May 5, 2026 |
| Anaphylotoxin inactivator deficiency | 1 | Apr 9, 2026 |
| Anauxetic dysplasia 2 | 1 | May 4, 2026 |
| Androgen resistance syndrome | 1 | May 5, 2026 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | May 5, 2026 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 | May 5, 2026 |
| Anterior segment dysgenesis 6 | 4 | May 5, 2026 |
| Anterior segment dysgenesis 8 | 2 | May 5, 2026 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2 | May 4, 2026 |
| Argininosuccinate lyase deficiency | 6 | May 4, 2026 |
| Aromatase deficiency | 2 | May 4, 2026 |
| Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | 1 | Apr 24, 2026 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Apr 9, 2026 |
| Arterial calcification, generalized, of infancy, 1 | 1 | Apr 9, 2026 |
| Arterial calcification, generalized, of infancy, 2 | 9 | May 4, 2026 |
| Arterial tortuosity syndrome | 1 | Apr 9, 2026 |
| Arterial tortuosity-bone fragility syndrome | 1 | Apr 9, 2026 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 1 | Apr 9, 2026 |
| Arthrogryposis multiplex congenita 3, myogenic type | 3 | May 4, 2026 |
| Arthrogryposis multiplex congenita 5 | 2 | Apr 9, 2026 |
| Arthrogryposis multiplex congenita 6 | 3 | May 5, 2026 |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 | May 4, 2026 |
| Asphyxiating thoracic dystrophy 3 | 5 | May 5, 2026 |
| Asphyxiating thoracic dystrophy 4 | 1 | May 4, 2026 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 | May 5, 2026 |
| Ataxia - oculomotor apraxia type 4 | 2 | May 5, 2026 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 3 | May 4, 2026 |
| Ataxia-telangiectasia syndrome | 3 | May 5, 2026 |
| Ataxia-telangiectasia-like disorder 1 | 2 | Apr 24, 2026 |
| Atelis syndrome 1 | 2 | May 5, 2026 |
| Atelis syndrome 2 | 1 | Apr 9, 2026 |
| Atelosteogenesis type II | 2 | May 5, 2026 |
| Atrichia with papular lesions | 1 | Apr 9, 2026 |
| Auditory neuropathy-optic atrophy syndrome | 1 | May 5, 2026 |
| Autoimmune disease, multisystem, infantile-onset, 3 | 1 | Apr 24, 2026 |
| Autoimmune lymphoproliferative syndrome type 2B | 1 | May 5, 2026 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 1 | Apr 9, 2026 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | May 4, 2026 |
| Autosomal recessive Alport syndrome | 8 | May 4, 2026 |
| Autosomal recessive Parkinson disease 14 | 5 | May 4, 2026 |
| Autosomal recessive amelia | 1 | Apr 9, 2026 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | Apr 24, 2026 |
| Autosomal recessive ataxia, Beauce type | 3 | May 4, 2026 |
| Autosomal recessive bestrophinopathy | 1 | May 4, 2026 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Apr 9, 2026 |
| Autosomal recessive congenital ichthyosis 1 | 1 | May 4, 2026 |
| Autosomal recessive congenital ichthyosis 10 | 1 | Apr 14, 2026 |
| Autosomal recessive congenital ichthyosis 2 | 2 | Apr 9, 2026 |
| Autosomal recessive congenital ichthyosis 3 | 3 | May 4, 2026 |
| Autosomal recessive congenital ichthyosis 4A | 4 | May 5, 2026 |
| Autosomal recessive congenital ichthyosis 4B | 4 | May 5, 2026 |
| Autosomal recessive congenital ichthyosis 5 | 3 | May 5, 2026 |
| Autosomal recessive congenital ichthyosis 6 | 1 | May 4, 2026 |
| Autosomal recessive congenital ichthyosis 8 | 1 | Apr 14, 2026 |
| Autosomal recessive distal spinal muscular atrophy 1 | 2 | May 4, 2026 |
| Autosomal recessive early-onset Parkinson disease 23 | 1 | Apr 14, 2026 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Apr 9, 2026 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 9 | May 4, 2026 |
| Autosomal recessive juvenile Parkinson disease 2 | 4 | Apr 9, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 6 | May 5, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Apr 9, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Apr 9, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 | May 5, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Apr 14, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 4 | May 4, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 3 | May 4, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 3 | Apr 14, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 | Apr 14, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 | May 4, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 | Apr 14, 2026 |
| Autosomal recessive multiple pterygium syndrome | 3 | Apr 24, 2026 |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Apr 24, 2026 |
| Autosomal recessive nonsyndromic hearing loss 124 | 16 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 16 | 2 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 18B | 3 | Apr 14, 2026 |
| Autosomal recessive nonsyndromic hearing loss 1A | 10 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 2 | 5 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 23 | 9 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 28 | 5 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 3 | 6 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 30 | 3 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 35 | 2 | Apr 24, 2026 |
| Autosomal recessive nonsyndromic hearing loss 36 | 2 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 4 | 10 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 44 | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 49 | 2 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 | Apr 14, 2026 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Apr 14, 2026 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Apr 9, 2026 |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 77 | 4 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 8 | 3 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 84B | 4 | May 5, 2026 |
| Autosomal recessive nonsyndromic hearing loss 89 | 1 | Apr 14, 2026 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 | May 4, 2026 |
| Autosomal recessive nonsyndromic hearing loss 98 | 3 | May 4, 2026 |
| Autosomal recessive osteopetrosis 4 | 1 | Apr 24, 2026 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 | Apr 14, 2026 |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 | Apr 14, 2026 |
| Autosomal recessive spastic paraplegia type 70 | 1 | Apr 9, 2026 |
| Autosomal recessive spastic paraplegia type 78 | 6 | May 5, 2026 |
| Autosomal recessive spinocerebellar ataxia 10 | 1 | Apr 9, 2026 |
| Autosomal recessive spinocerebellar ataxia 12 | 4 | May 4, 2026 |
| Autosomal recessive spinocerebellar ataxia 14 | 2 | May 4, 2026 |
| Autosomal recessive spinocerebellar ataxia 16 | 2 | May 4, 2026 |
| Autosomal recessive spinocerebellar ataxia 7 | 1 | May 4, 2026 |
| BNAR syndrome | 1 | Apr 14, 2026 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | May 4, 2026 |
| Bailey-Bloch congenital myopathy | 1 | May 5, 2026 |
| Baller-Gerold syndrome | 7 | May 5, 2026 |
| Bardet-Biedl syndrome 1 | 1 | Apr 9, 2026 |
| Bardet-Biedl syndrome 10 | 1 | May 4, 2026 |
| Bardet-Biedl syndrome 11 | 1 | Apr 9, 2026 |
| Bardet-Biedl syndrome 12 | 1 | Apr 14, 2026 |
| Bardet-Biedl syndrome 13 | 2 | Apr 14, 2026 |
| Bardet-Biedl syndrome 14 | 3 | May 4, 2026 |
| Bardet-Biedl syndrome 15 | 1 | Apr 9, 2026 |
| Bardet-Biedl syndrome 17 | 1 | May 4, 2026 |
| Bardet-Biedl syndrome 2 | 1 | Apr 2, 2025 |
| Bardet-Biedl syndrome 20 | 2 | May 4, 2026 |
| Bardet-Biedl syndrome 6 | 1 | May 4, 2026 |
| Bardet-Biedl syndrome 7 | 1 | Apr 9, 2026 |
| Bartsocas-Papas syndrome 1 | 1 | Apr 14, 2026 |
| Bartter disease type 1 | 1 | May 4, 2026 |
| Bartter disease type 3 | 1 | Apr 14, 2026 |
| Basal ganglia calcification, idiopathic, 10, autosomal recessive | 1 | May 5, 2026 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 1 | Apr 9, 2026 |
| Benign recurrent intrahepatic cholestasis type 2 | 1 | Apr 14, 2026 |
| Bent bone dysplasia syndrome 2 | 4 | May 4, 2026 |
| Bernard Soulier syndrome | 1 | Apr 9, 2026 |
| Beta-D-mannosidosis | 1 | May 4, 2026 |
| Beta-thalassemia HBB/LCRB | 13 | May 5, 2026 |
| Bethlem myopathy 1B | 1 | Apr 9, 2026 |
| Bethlem myopathy 1C | 1 | Apr 9, 2026 |
| Bietti crystalline corneoretinal dystrophy | 2 | May 4, 2026 |
| Bilateral frontoparietal polymicrogyria | 3 | Apr 24, 2026 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Apr 14, 2026 |
| Bile acid malabsorption, primary, 1 | 2 | May 4, 2026 |
| Biotinidase deficiency | 4 | May 4, 2026 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Apr 9, 2026 |
| Bloom syndrome | 1 | May 5, 2026 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 2 | May 4, 2026 |
| Bone fragility with contractures, arterial rupture, and deafness | 1 | May 4, 2026 |
| Bothnia retinal dystrophy | 2 | May 4, 2026 |
| Braddock-carey syndrome 2 | 1 | Apr 24, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Apr 14, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Apr 9, 2026 |
| Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 | Apr 9, 2026 |
| Brittle cornea syndrome 1 | 2 | Apr 9, 2026 |
| Brody myopathy | 2 | May 5, 2026 |
| Brown-Vialetto-van Laere syndrome 1 | 1 | Apr 24, 2026 |
| Brown-Vialetto-van Laere syndrome 2 | 3 | May 4, 2026 |
| Bruck syndrome 2 | 1 | May 5, 2026 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | May 4, 2026 |
| CEDNIK syndrome | 1 | Apr 14, 2026 |
| CHIME syndrome | 3 | May 4, 2026 |
| CIDEC-related familial partial lipodystrophy | 2 | May 4, 2026 |
| COACH syndrome 1 | 1 | Oct 6, 2025 |
| COACH syndrome 2 | 3 | Apr 24, 2026 |
| COACH syndrome 3 | 1 | Apr 9, 2026 |
| CODAS syndrome | 1 | Apr 9, 2026 |
| COG1 congenital disorder of glycosylation | 3 | May 4, 2026 |
| COG4-congenital disorder of glycosylation | 1 | Apr 24, 2026 |
| COG7 congenital disorder of glycosylation | 1 | Apr 24, 2026 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 3 | May 5, 2026 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Apr 14, 2026 |
| Candidiasis, familial, 9 | 1 | Apr 9, 2026 |
| Cardiac valvular dysplasia 2 | 2 | Apr 14, 2026 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 1 | May 4, 2026 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 | Apr 14, 2026 |
| Cardiomyopathy, dilated, 2D | 1 | Apr 9, 2026 |
| Cardiomyopathy, dilated, 2K | 1 | Apr 14, 2026 |
| Cardiomyopathy, dilated, 2M | 1 | May 4, 2026 |
| Cardiomyopathy, dilated, 2j | 1 | Apr 14, 2026 |
| Cardiomyopathy, familial hypertrophic 27 | 2 | Apr 14, 2026 |
| Carey-Fineman-Ziter syndrome 2 | 1 | Apr 9, 2026 |
| Carney complex - trismus - pseudocamptodactyly syndrome | 1 | Apr 24, 2026 |
| Carnitine acylcarnitine translocase deficiency | 1 | Apr 9, 2026 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 3 | May 4, 2026 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 3 | May 4, 2026 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 3 | May 4, 2026 |
| Cataract 13 with adult I phenotype | 3 | May 5, 2026 |
| Cataract 16 multiple types | 1 | May 5, 2026 |
| Cataract 18 | 5 | May 5, 2026 |
| Cataract 22 multiple types | 2 | May 4, 2026 |
| Cataract 34 multiple types | 1 | May 4, 2026 |
| Cataract 36 | 1 | May 4, 2026 |
| Cataract 38 | 2 | Apr 14, 2026 |
| Cataract 44 | 1 | Apr 9, 2026 |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 2 | Apr 9, 2026 |
| Catel-Manzke syndrome | 2 | Apr 24, 2026 |
| Cenani-Lenz syndactyly syndrome | 2 | Apr 24, 2026 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 2 | May 5, 2026 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 3 | Apr 14, 2026 |
| Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | 1 | May 4, 2026 |
| Cerebral folate transport deficiency | 1 | May 4, 2026 |
| Cerebrooculofacioskeletal syndrome 2 | 3 | May 5, 2026 |
| Cerebrooculofacioskeletal syndrome 4 | 1 | May 4, 2026 |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 1 | May 5, 2026 |
| Ceroid lipofuscinosis, neuronal, 6A | 1 | May 4, 2026 |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 1 | May 4, 2026 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Apr 9, 2026 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | May 4, 2026 |
| Charcot-Marie-Tooth disease axonal type 2T | 3 | May 5, 2026 |
| Charcot-Marie-Tooth disease axonal type 2X | 3 | May 5, 2026 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Apr 9, 2026 |
| Charcot-Marie-Tooth disease recessive intermediate B | 1 | Apr 14, 2026 |
| Charcot-Marie-Tooth disease recessive intermediate C | 1 | May 4, 2026 |
| Charcot-Marie-Tooth disease recessive intermediate D | 1 | Apr 9, 2026 |
| Charcot-Marie-Tooth disease type 2B1 | 2 | May 4, 2026 |
| Charcot-Marie-Tooth disease type 2B2 | 2 | May 5, 2026 |
| Charcot-Marie-Tooth disease type 4A | 1 | Apr 9, 2026 |
| Charcot-Marie-Tooth disease type 4B1 | 2 | May 4, 2026 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | May 5, 2026 |
| Charcot-Marie-Tooth disease type 4C | 2 | Apr 24, 2026 |
| Charcot-Marie-Tooth disease type 4F | 1 | May 4, 2026 |
| Charcot-Marie-Tooth disease type 4G | 2 | May 4, 2026 |
| Charcot-Marie-Tooth disease type 4J | 1 | Apr 14, 2026 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 3 | May 4, 2026 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 1 | Apr 9, 2026 |
| Charlevoix-Saguenay spastic ataxia | 1 | Apr 24, 2026 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Apr 14, 2026 |
| Childhood hypophosphatasia | 4 | May 4, 2026 |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 1 | Apr 9, 2026 |
| Cholestanol storage disease | 1 | May 5, 2026 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 3 | May 5, 2026 |
| Cholestasis, progressive familial intrahepatic, 5 | 1 | May 4, 2026 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 1 | Apr 9, 2026 |
| Cholestasis, progressive familial intrahepatic, 9 | 1 | Apr 9, 2026 |
| Chudley-McCullough syndrome | 2 | May 4, 2026 |
| Chuvash polycythemia | 1 | Apr 9, 2026 |
| Ciliary dyskinesia, primary, 37 | 3 | Apr 24, 2026 |
| Ciliary dyskinesia, primary, 38 | 1 | May 4, 2026 |
| Ciliary dyskinesia, primary, 39 | 2 | Apr 14, 2026 |
| Ciliary dyskinesia, primary, 40 | 7 | Apr 24, 2026 |
| Ciliary dyskinesia, primary, 44 | 2 | May 4, 2026 |
| Ciliary dyskinesia, primary, 48, without situs inversus | 1 | Apr 9, 2026 |
| Ciliary dyskinesia, primary, 50 | 9 | May 5, 2026 |
| Ciliary dyskinesia, primary, 51 | 1 | May 4, 2026 |
| Ciliary dyskinesia, primary, 52 | 2 | May 5, 2026 |
| Ciliary dyskinesia, primary, 54 | 2 | May 5, 2026 |
| Citrullinemia type I | 4 | May 5, 2026 |
| Citrullinemia, type II, adult-onset | 4 | Apr 9, 2026 |
| Classic homocystinuria | 4 | May 4, 2026 |
| Cleft lip/palate-ectodermal dysplasia syndrome | 1 | Apr 24, 2026 |
| Cobalamin C disease | 4 | May 5, 2026 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Apr 14, 2026 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | May 4, 2026 |
| Coenzyme Q10 deficiency, primary, 3 | 1 | May 4, 2026 |
| Coffin-Siris syndrome 1 | 1 | May 4, 2026 |
| Cohen syndrome | 1 | May 5, 2026 |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 1 | Apr 9, 2026 |
| Combined immunodeficiency due to CD3gamma deficiency | 2 | May 4, 2026 |
| Combined immunodeficiency due to DOCK8 deficiency | 3 | May 5, 2026 |
| Combined immunodeficiency due to LRBA deficiency | 2 | May 4, 2026 |
| Combined immunodeficiency due to STK4 deficiency | 1 | Apr 14, 2026 |
| Combined immunodeficiency with skin granulomas | 3 | May 4, 2026 |
| Combined malonic and methylmalonic acidemia | 4 | Apr 24, 2026 |
| Combined oxidative phosphorylation defect type 11 | 1 | May 4, 2026 |
| Combined oxidative phosphorylation defect type 13 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation defect type 14 | 2 | May 4, 2026 |
| Combined oxidative phosphorylation defect type 15 | 3 | Apr 24, 2026 |
| Combined oxidative phosphorylation defect type 17 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation defect type 2 | 1 | Apr 14, 2026 |
| Combined oxidative phosphorylation defect type 20 | 3 | May 4, 2026 |
| Combined oxidative phosphorylation defect type 21 | 2 | May 4, 2026 |
| Combined oxidative phosphorylation defect type 25 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation defect type 27 | 4 | May 4, 2026 |
| Combined oxidative phosphorylation defect type 8 | 2 | May 5, 2026 |
| Combined oxidative phosphorylation deficiency 28 | 1 | May 5, 2026 |
| Combined oxidative phosphorylation deficiency 35 | 1 | May 4, 2026 |
| Combined oxidative phosphorylation deficiency 36 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation deficiency 39 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation deficiency 41 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation deficiency 44 | 1 | Apr 9, 2026 |
| Combined oxidative phosphorylation deficiency 51 | 2 | Apr 24, 2026 |
| Combined oxidative phosphorylation deficiency 54 | 2 | Apr 14, 2026 |
| Combined oxidative phosphorylation deficiency 55 | 2 | Apr 14, 2026 |
| Combined oxidative phosphorylation deficiency 60 | 1 | May 4, 2026 |
| Cone dystrophy with supernormal rod response | 5 | May 4, 2026 |
| Cone-rod dystrophy 13 | 3 | May 5, 2026 |
| Cone-rod dystrophy 15 | 2 | Apr 14, 2026 |
| Cone-rod dystrophy 19 | 1 | Apr 24, 2026 |
| Cone-rod dystrophy 20 | 1 | Apr 24, 2026 |
| Cone-rod dystrophy 3 | 22 | May 5, 2026 |
| Cone-rod dystrophy 6 | 2 | Apr 9, 2026 |
| Cone-rod dystrophy and hearing loss 1 | 2 | May 4, 2026 |
| Cone-rod synaptic disorder, congenital nonprogressive | 2 | May 4, 2026 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 2 | May 4, 2026 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Apr 9, 2026 |
| Congenital afibrinogenemia | 2 | May 5, 2026 |
| Congenital amegakaryocytic thrombocytopenia 1 | 4 | Apr 24, 2026 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 24 | May 5, 2026 |
| Congenital bile acid synthesis defect 2 | 1 | May 4, 2026 |
| Congenital bile acid synthesis defect 6 | 2 | Apr 14, 2026 |
| Congenital disorder of deglycosylation 1 | 2 | Apr 14, 2026 |
| Congenital disorder of deglycosylation 2 | 5 | May 4, 2026 |
| Congenital disorder of glycosylation type 1EE with or without immunodeficiency | 2 | May 4, 2026 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 5 | May 5, 2026 |
| Congenital disorder of glycosylation, type ICC | 1 | Apr 24, 2026 |
| Congenital disorder of glycosylation, type IIcc | 1 | May 5, 2026 |
| Congenital factor V deficiency | 1 | May 5, 2026 |
| Congenital factor VII deficiency | 4 | May 5, 2026 |
| Congenital generalized lipodystrophy type 1 | 2 | May 4, 2026 |
| Congenital generalized lipodystrophy type 2 | 3 | May 5, 2026 |
| Congenital hereditary endothelial dystrophy of cornea | 2 | Apr 14, 2026 |
| Congenital lactase deficiency | 1 | May 4, 2026 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | May 5, 2026 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 | Apr 24, 2026 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Apr 24, 2026 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 | May 4, 2026 |
| Congenital myasthenic syndrome 10 | 2 | May 4, 2026 |
| Congenital myasthenic syndrome 12 | 1 | Apr 24, 2026 |
| Congenital myasthenic syndrome 13 | 2 | May 4, 2026 |
| Congenital myasthenic syndrome 14 | 2 | May 5, 2026 |
| Congenital myasthenic syndrome 16 | 2 | May 5, 2026 |
| Congenital myasthenic syndrome 17 | 2 | Apr 24, 2026 |
| Congenital myasthenic syndrome 19 | 1 | Apr 9, 2026 |
| Congenital myasthenic syndrome 21 | 1 | May 5, 2026 |
| Congenital myasthenic syndrome 3B | 2 | Apr 9, 2026 |
| Congenital myasthenic syndrome 3C | 2 | Apr 9, 2026 |
| Congenital myasthenic syndrome 4A | 2 | Apr 24, 2026 |
| Congenital myasthenic syndrome 4B | 2 | Apr 24, 2026 |
| Congenital myasthenic syndrome 4C | 2 | Apr 24, 2026 |
| Congenital myasthenic syndrome 8 | 1 | Apr 24, 2026 |
| Congenital myasthenic syndrome 9 | 1 | Apr 9, 2026 |
| Congenital myopathy 20 | 1 | Apr 9, 2026 |
| Congenital myopathy 22A, classic | 2 | May 5, 2026 |
| Congenital myopathy 22B, severe fetal | 2 | May 5, 2026 |
| Congenital myotonia, autosomal recessive form | 4 | Apr 9, 2026 |
| Congenital primary aphakia | 1 | May 4, 2026 |
| Congenital secretory diarrhea, chloride type | 1 | May 5, 2026 |
| Congenital short bowel syndrome, autosomal recessive | 1 | Apr 9, 2026 |
| Congenital stationary night blindness 1B | 4 | May 5, 2026 |
| Congenital stationary night blindness 1C | 7 | May 4, 2026 |
| Congenital stationary night blindness 1D | 1 | Apr 9, 2026 |
| Congenital stationary night blindness 1E | 2 | May 5, 2026 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 3 | May 4, 2026 |
| Corneal dystrophy-perceptive deafness syndrome | 2 | Apr 14, 2026 |
| Cortical dysplasia, complex, with other brain malformations 11 | 1 | Apr 14, 2026 |
| Corticosteroid-binding globulin deficiency | 1 | Apr 9, 2026 |
| Corticosterone 18-monooxygenase deficiency | 2 | Apr 14, 2026 |
| Corticosterone methyloxidase type 2 deficiency | 2 | Apr 14, 2026 |
| Cortisone reductase deficiency 1 | 2 | May 4, 2026 |
| Cranioectodermal dysplasia 1 | 2 | May 4, 2026 |
| Cranioectodermal dysplasia 2 | 2 | Apr 14, 2026 |
| Cranioectodermal dysplasia 3 | 5 | May 5, 2026 |
| Craniosynostosis and dental anomalies | 3 | Apr 24, 2026 |
| Crigler-Najjar syndrome type 1 | 5 | May 5, 2026 |
| Crigler-Najjar syndrome, type II | 5 | May 5, 2026 |
| Cutis laxa with osteodystrophy | 1 | May 4, 2026 |
| Cystathioninuria | 1 | Apr 9, 2026 |
| Cystic disease of lung | 1 | May 5, 2026 |
| Cystic fibrosis | 24 | May 5, 2026 |
| Cystic leukoencephalopathy without megalencephaly | 1 | Apr 24, 2026 |
| Cystinuria | 7 | May 5, 2026 |
| D-2-hydroxyglutaric aciduria 1 | 2 | May 5, 2026 |
| DPAGT1-congenital disorder of glycosylation | 2 | May 4, 2026 |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | 1 | Apr 14, 2026 |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 | May 4, 2026 |
| Deeah syndrome | 1 | Apr 14, 2026 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 4 | Apr 9, 2026 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 3 | Apr 24, 2026 |
| Deficiency of adenosine deaminase 2 | 4 | Apr 9, 2026 |
| Deficiency of alpha-mannosidase | 3 | May 5, 2026 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Apr 14, 2026 |
| Deficiency of beta-ureidopropionase | 3 | Apr 9, 2026 |
| Deficiency of butyryl-CoA dehydrogenase | 3 | Apr 9, 2026 |
| Deficiency of cytochrome-b5 reductase | 1 | Apr 9, 2026 |
| Deficiency of guanidinoacetate methyltransferase | 1 | May 4, 2026 |
| Deficiency of iodide peroxidase | 2 | Apr 14, 2026 |
| Deficiency of isobutyryl-CoA dehydrogenase | 2 | May 5, 2026 |
| Deficiency of steroid 11-beta-monooxygenase | 4 | May 4, 2026 |
| Deficiency of steroid 17-alpha-monooxygenase | 1 | May 5, 2026 |
| Dejerine-Sottas disease | 3 | May 5, 2026 |
| Desbuquois dysplasia 1 | 1 | May 4, 2026 |
| Developmental and epileptic encephalopathy 106 | 1 | Apr 9, 2026 |
| Developmental and epileptic encephalopathy 111 | 1 | Apr 9, 2026 |
| Developmental and epileptic encephalopathy, 23 | 1 | Apr 9, 2026 |
| Developmental and epileptic encephalopathy, 28 | 4 | May 4, 2026 |
| Developmental and epileptic encephalopathy, 35 | 1 | Apr 14, 2026 |
| Developmental and epileptic encephalopathy, 37 | 1 | May 4, 2026 |
| Developmental and epileptic encephalopathy, 40 | 1 | Apr 9, 2026 |
| Developmental and epileptic encephalopathy, 44 | 2 | Apr 14, 2026 |
| Developmental and epileptic encephalopathy, 68 | 1 | May 4, 2026 |
| Developmental and epileptic encephalopathy, 77 | 1 | May 5, 2026 |
| Developmental and epileptic encephalopathy, 81 | 1 | Apr 9, 2026 |
| Developmental and epileptic encephalopathy, 86 | 1 | May 4, 2026 |
| Developmental delay with hypotonia, myopathy, and brain abnormalities | 1 | Apr 9, 2026 |
| Diabetes mellitus, permanent neonatal 3 | 3 | May 4, 2026 |
| Diamond-Blackfan anemia 21 | 1 | May 4, 2026 |
| Diastrophic dysplasia | 2 | May 5, 2026 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | May 4, 2026 |
| Dihydropyrimidinase deficiency | 1 | Apr 9, 2026 |
| Dihydropyrimidine dehydrogenase deficiency | 4 | May 5, 2026 |
| Dilated cardiomyopathy 1GG | 3 | May 5, 2026 |
| Dilated cardiomyopathy 1X | 1 | May 4, 2026 |
| Distal myopathy with anterior tibial onset | 1 | Apr 9, 2026 |
| Dubin-Johnson syndrome | 5 | May 5, 2026 |
| Dyggve-Melchior-Clausen syndrome | 1 | Apr 24, 2026 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Apr 9, 2026 |
| Dyskeratosis congenita, autosomal dominant 6 | 1 | May 4, 2026 |
| Dystonia 22, adult-onset | 1 | Apr 14, 2026 |
| Dystonia 22, juvenile-onset | 1 | Apr 14, 2026 |
| Dystonia 27 | 1 | Apr 9, 2026 |
| Dystonia 31 | 1 | May 4, 2026 |
| EAST syndrome | 1 | Apr 9, 2026 |
| ENHANCED S-CONE SYNDROME 1 | 4 | May 4, 2026 |
| Early-onset myopathy with fatal cardiomyopathy | 3 | May 4, 2026 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 | May 4, 2026 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 3 | May 4, 2026 |
| Ectodermal dysplasia 15, hypohidrotic/hair type | 1 | Apr 9, 2026 |
| Ectodermal dysplasia 7, hair/nail type | 1 | May 4, 2026 |
| Ectopia lentis 2, isolated, autosomal recessive | 2 | May 4, 2026 |
| Ectopia lentis et pupillae | 2 | May 4, 2026 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 | May 5, 2026 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Apr 14, 2026 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Apr 14, 2026 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 2 | Apr 14, 2026 |
| Eichsfeld type congenital muscular dystrophy | 2 | May 4, 2026 |
| Elliptocytosis 3 | 1 | Oct 6, 2025 |
| Ellis-van Creveld syndrome | 1 | May 5, 2026 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 | May 4, 2026 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Apr 9, 2026 |
| Endocrine-cerebro-osteodysplasia syndrome | 1 | Oct 6, 2025 |
| Enterokinase deficiency | 2 | Apr 9, 2026 |
| Epidermolysis bullosa pruriginosa | 6 | Apr 24, 2026 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 1 | Apr 14, 2026 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 4 | May 4, 2026 |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 2 | May 5, 2026 |
| Epidermolysis bullosa, junctional 2A, intermediate | 1 | Oct 6, 2025 |
| Epidermolysis bullosa, junctional 2B, severe | 1 | Oct 6, 2025 |
| Epidermolysis bullosa, junctional 4, intermediate | 1 | Apr 9, 2026 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Apr 9, 2026 |
| Epidermolytic hyperkeratosis 2B, autosomal recessive | 1 | May 4, 2026 |
| Epilepsy, familial temporal lobe, 1 | 1 | May 4, 2026 |
| Epiphyseal dysplasia, multiple, 7 | 1 | May 4, 2026 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Apr 9, 2026 |
| Erythrocyte AMP deaminase deficiency | 2 | Apr 14, 2026 |
| Erythrokeratodermia variabilis et progressiva 5 | 3 | May 5, 2026 |
| Ethylmalonic encephalopathy | 3 | Apr 9, 2026 |
| Exudative vitreoretinopathy 4 | 3 | Apr 14, 2026 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 | Apr 9, 2026 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 2 | Apr 9, 2026 |
| Factor I deficiency | 2 | May 4, 2026 |
| Factor V and factor VIII, combined deficiency of, type 1 | 2 | Apr 24, 2026 |
| Factor XII deficiency disease | 2 | Apr 24, 2026 |
| Familial Mediterranean fever | 8 | May 4, 2026 |
| Familial adenomatous polyposis 2 | 4 | Apr 14, 2026 |
| Familial adenomatous polyposis 4 | 1 | Apr 9, 2026 |
| Familial hemophagocytic lymphohistiocytosis 3 | 1 | May 4, 2026 |
| Familial hypobetalipoproteinemia 2 | 3 | May 4, 2026 |
| Familial hypokalemia-hypomagnesemia | 10 | May 4, 2026 |
| Familial infantile bilateral striatal necrosis | 1 | May 4, 2026 |
| Familial infantile myasthenia | 1 | May 4, 2026 |
| Familial isolated deficiency of vitamin E | 1 | May 5, 2026 |
| Familial porphyria cutanea tarda | 1 | Apr 9, 2026 |
| Familial pulmonary capillary hemangiomatosis | 2 | May 4, 2026 |
| Familial renal glucosuria | 4 | May 4, 2026 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | Apr 9, 2026 |
| Familial type 3 hyperlipoproteinemia | 1 | Apr 9, 2026 |
| Fanconi anemia complementation group A | 3 | May 5, 2026 |
| Fanconi anemia complementation group C | 1 | Apr 9, 2026 |
| Fanconi anemia complementation group D1 | 1 | Apr 24, 2026 |
| Fanconi anemia complementation group D2 | 1 | Apr 9, 2026 |
| Fanconi anemia complementation group E | 1 | Apr 14, 2026 |
| Fanconi anemia complementation group I | 3 | May 5, 2026 |
| Fanconi anemia complementation group J | 3 | May 4, 2026 |
| Fanconi anemia complementation group P | 2 | Apr 24, 2026 |
| Fanconi anemia complementation group Q | 1 | Apr 9, 2026 |
| Fanconi renotubular syndrome 2 | 3 | May 5, 2026 |
| Fanconi renotubular syndrome 5 | 1 | Apr 9, 2026 |
| Fatal infantile hypertonic myofibrillar myopathy | 1 | May 5, 2026 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | Apr 24, 2026 |
| Female infertility due to zona pellucida defect | 2 | May 4, 2026 |
| Fetal akinesia deformation sequence 1 | 1 | Apr 9, 2026 |
| Fetal akinesia deformation sequence 3 | 2 | May 4, 2026 |
| Fetal akinesia deformation sequence 4 | 1 | Apr 9, 2026 |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 1 | May 4, 2026 |
| Fibrochondrogenesis 1 | 1 | May 4, 2026 |
| Fibrochondrogenesis 2 | 1 | Apr 14, 2026 |
| Fibrosis of extraocular muscles, congenital, 5 | 1 | Apr 14, 2026 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 1 | Apr 24, 2026 |
| Filippi syndrome | 1 | Apr 24, 2026 |
| Finnish congenital nephrotic syndrome | 1 | Apr 9, 2026 |
| Focal facial dermal dysplasia type IV | 2 | May 5, 2026 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Apr 9, 2026 |
| Fraser syndrome 1 | 2 | May 5, 2026 |
| Fraser syndrome 2 | 3 | Apr 24, 2026 |
| Fucosidosis | 1 | Apr 9, 2026 |
| Fuhrmann syndrome | 1 | Oct 6, 2025 |
| GCGR-related hyperglucagonemia | 1 | May 5, 2026 |
| GM1 gangliosidosis type 2 | 4 | Apr 9, 2026 |
| GM1 gangliosidosis type 3 | 4 | Apr 9, 2026 |
| GNE myopathy | 2 | Oct 6, 2025 |
| GNPTG-mucolipidosis | 1 | May 5, 2026 |
| GRACILE syndrome | 1 | May 4, 2026 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | Apr 9, 2026 |
| Galactosemia 4 | 1 | Apr 9, 2026 |
| Galactosylceramide beta-galactosidase deficiency | 4 | May 5, 2026 |
| Galloway-Mowat syndrome 3 | 1 | May 4, 2026 |
| Galloway-Mowat syndrome 4 | 1 | May 4, 2026 |
| Galloway-Mowat syndrome 7 | 1 | May 5, 2026 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 2 | May 5, 2026 |
| Gastrointestinal defects and immunodeficiency syndrome 2 | 1 | Apr 9, 2026 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 1 | May 5, 2026 |
| Ghosal hematodiaphyseal dysplasia | 3 | Apr 9, 2026 |
| Gilbert syndrome | 5 | May 5, 2026 |
| Gillespie syndrome | 2 | May 5, 2026 |
| Gillessen-Kaesbach-Nishimura syndrome | 1 | Apr 9, 2026 |
| Gingival fibromatosis-hypertrichosis syndrome | 4 | May 4, 2026 |
| Glanzmann thrombasthenia 2 | 2 | May 4, 2026 |
| Glaucoma 3A | 4 | May 5, 2026 |
| Glucocorticoid deficiency 4 | 1 | Apr 9, 2026 |
| Glucocorticoid deficiency with achalasia | 1 | May 4, 2026 |
| Glucose-6-phosphate transport defect | 1 | May 4, 2026 |
| Glutamate formiminotransferase deficiency | 3 | May 4, 2026 |
| Glutaric aciduria, type 1 | 5 | May 5, 2026 |
| Glutaryl-CoA oxidase deficiency | 4 | May 4, 2026 |
| Glycine encephalopathy 1 | 4 | Apr 14, 2026 |
| Glycine encephalopathy 2 | 1 | Apr 14, 2026 |
| Glycogen storage disease IXb | 3 | Apr 24, 2026 |
| Glycogen storage disease IXc | 1 | May 4, 2026 |
| Glycogen storage disease XV | 1 | Oct 6, 2025 |
| Glycogen storage disease due to acid maltase deficiency, late-onset | 1 | May 4, 2026 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 | May 4, 2026 |
| Glycogen storage disease type III | 2 | Apr 24, 2026 |
| Glycogen storage disease type X | 1 | Apr 9, 2026 |
| Glycogen storage disease, type II | 4 | May 4, 2026 |
| Glycogen storage disease, type IV | 4 | May 4, 2026 |
| Glycogen storage disease, type V | 4 | May 5, 2026 |
| Glycogen storage disease, type VI | 2 | May 5, 2026 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 4 | May 4, 2026 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | May 4, 2026 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 1 | Apr 9, 2026 |
| Granulomatous disease, chronic, X-linked | 1 | May 4, 2026 |
| Granulomatous disease, chronic, autosomal recessive, 5 | 1 | Apr 14, 2026 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 3 | May 4, 2026 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 2 | Apr 9, 2026 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Apr 9, 2026 |
| Greenberg dysplasia | 1 | May 5, 2026 |
| Griscelli syndrome type 3 | 1 | May 5, 2026 |
| Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 | Apr 9, 2026 |
| H syndrome | 1 | Apr 9, 2026 |
| HNSHA due to aldolase A deficiency | 1 | May 5, 2026 |
| HYPERLYSINEMIA, TYPE I | 2 | Apr 9, 2026 |
| Haim-Munk syndrome | 1 | May 4, 2026 |
| Harderoporphyria | 2 | May 5, 2026 |
| Hearing loss, X-linked 6 | 1 | Apr 9, 2026 |
| Hearing loss, autosomal recessive 100 | 1 | Apr 14, 2026 |
| Hearing loss, autosomal recessive 106 | 2 | May 4, 2026 |
| Hearing loss, autosomal recessive 109 | 1 | Apr 9, 2026 |
| Hearing loss, autosomal recessive 111 | 3 | May 4, 2026 |
| Hearing loss, autosomal recessive 112 | 1 | Apr 14, 2026 |
| Hearing loss, autosomal recessive 119 | 1 | May 4, 2026 |
| Hearing loss, autosomal recessive 57 | 1 | Apr 24, 2026 |
| Heart and brain malformation syndrome | 1 | May 4, 2026 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 | Apr 9, 2026 |
| Heimler syndrome 1 | 1 | Apr 9, 2026 |
| Heimler syndrome 2 | 3 | May 5, 2026 |
| Hemochromatosis type 1 | 3 | May 5, 2026 |
| Hemochromatosis type 2A | 1 | May 4, 2026 |
| Hemochromatosis type 3 | 2 | May 5, 2026 |
| Hemolytic anemia due to glutathione reductase deficiency | 2 | May 4, 2026 |
| Hemolytic anemia due to hexokinase deficiency | 2 | May 4, 2026 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | Apr 9, 2026 |
| Hepatorenocardiac degenerative fibrosis | 1 | Apr 24, 2026 |
| Hereditary antithrombin deficiency | 4 | May 5, 2026 |
| Hereditary coproporphyria | 2 | May 5, 2026 |
| Hereditary factor X deficiency disease | 1 | Apr 9, 2026 |
| Hereditary factor XI deficiency disease | 7 | May 5, 2026 |
| Hereditary hypotrichosis with recurrent skin vesicles | 2 | Apr 14, 2026 |
| Hereditary sensory and autonomic neuropathy type 6 | 5 | May 4, 2026 |
| Hereditary spastic paraplegia 11 | 3 | May 5, 2026 |
| Hereditary spastic paraplegia 23 | 1 | Apr 9, 2026 |
| Hereditary spastic paraplegia 35 | 1 | Apr 9, 2026 |
| Hereditary spastic paraplegia 39 | 3 | May 4, 2026 |
| Hereditary spastic paraplegia 44 | 1 | May 4, 2026 |
| Hereditary spastic paraplegia 46 | 3 | Apr 24, 2026 |
| Hereditary spastic paraplegia 47 | 3 | May 5, 2026 |
| Hereditary spastic paraplegia 48 | 3 | May 5, 2026 |
| Hereditary spastic paraplegia 51 | 1 | Apr 9, 2026 |
| Hereditary spastic paraplegia 52 | 2 | May 4, 2026 |
| Hereditary spastic paraplegia 54 | 1 | Apr 9, 2026 |
| Hereditary spastic paraplegia 63 | 1 | Apr 9, 2026 |
| Hereditary spastic paraplegia 7 | 7 | May 4, 2026 |
| Hereditary spastic paraplegia 77 | 2 | May 4, 2026 |
| Hereditary spherocytosis type 3 | 3 | May 4, 2026 |
| Hereditary xanthinuria type 1 | 3 | May 5, 2026 |
| Hermansky-Pudlak syndrome 11 | 1 | Apr 9, 2026 |
| Hermansky-Pudlak syndrome 5 | 1 | May 4, 2026 |
| Hermansky-Pudlak syndrome 6 | 2 | May 5, 2026 |
| Hermansky-Pudlak syndrome 9 | 1 | Apr 14, 2026 |
| Heterotaxy, visceral, 11, autosomal, with male infertility | 2 | May 5, 2026 |
| Heterotaxy, visceral, 14, autosomal | 1 | May 5, 2026 |
| Heterotaxy, visceral, 7, autosomal | 1 | May 4, 2026 |
| Heterotaxy, visceral, 8, autosomal | 2 | May 4, 2026 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 2 | May 4, 2026 |
| Histiocytic medullary reticulosis | 4 | May 4, 2026 |
| Holoprosencephaly 10 | 3 | May 5, 2026 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 3 | Apr 14, 2026 |
| Hoxha-Aliu syndrome | 1 | May 5, 2026 |
| Hurler syndrome | 1 | Apr 14, 2026 |
| Hyaline fibromatosis syndrome | 2 | Apr 9, 2026 |
| Hydatidiform mole, recurrent, 1 | 1 | Apr 2, 2025 |
| Hydatidiform mole, recurrent, 3 | 1 | Apr 9, 2026 |
| Hydrocephalus, congenital, 3, with brain anomalies | 2 | Apr 14, 2026 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 1 | Apr 14, 2026 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 3 | Apr 9, 2026 |
| Hydrolethalus syndrome 2 | 2 | May 4, 2026 |
| Hydroxykynureninuria | 2 | May 4, 2026 |
| Hyper-IgM syndrome type 2 | 1 | May 5, 2026 |
| Hyperammonemia, type III | 2 | Apr 9, 2026 |
| Hyperbiliverdinemia | 1 | Apr 9, 2026 |
| Hypercalcemia, infantile, 1 | 3 | May 5, 2026 |
| Hypercalcemia, infantile, 2 | 3 | May 5, 2026 |
| Hypercholanemia, familial, 2 | 6 | May 4, 2026 |
| Hypercholesterolemia, familial, 1 | 1 | Apr 9, 2026 |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 1 | Apr 24, 2026 |
| Hyperekplexia 2 | 2 | May 4, 2026 |
| Hyperimmunoglobulin D with periodic fever | 1 | Apr 9, 2026 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 3 | May 4, 2026 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 2 | May 4, 2026 |
| Hyperlipoproteinemia, type I | 2 | Apr 14, 2026 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2 | May 5, 2026 |
| Hyperparathyroidism, transient neonatal | 1 | May 5, 2026 |
| Hyperphosphatasemia with bone disease | 1 | May 4, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | May 4, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 2 | Apr 14, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 2 | May 4, 2026 |
| Hyperprolinemia type 2 | 1 | Apr 9, 2026 |
| Hypertrophic cardiomyopathy 8 | 1 | Apr 24, 2026 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 2 | May 5, 2026 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 | Apr 24, 2026 |
| Hypervalinemia and hyperleucine-isoleucinemia | 1 | May 4, 2026 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Apr 14, 2026 |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 1 | Apr 24, 2026 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 4 | May 4, 2026 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 2 | May 4, 2026 |
| Hypokalemic tubulopathy and deafness | 1 | May 5, 2026 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | May 4, 2026 |
| Hypoparathyroidism, familial isolated 1 | 1 | May 4, 2026 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 1 | Apr 24, 2026 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 | Apr 9, 2026 |
| Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 1 | May 4, 2026 |
| Hypospadias 1, X-linked | 1 | May 5, 2026 |
| Hypothyroidism due to TSH receptor mutations | 4 | May 4, 2026 |
| Hypothyroidism, congenital, nongoitrous, 7 | 2 | May 5, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Apr 24, 2026 |
| Hypotrichosis 15 | 1 | Apr 9, 2026 |
| Hypotrichosis 6 | 3 | May 5, 2026 |
| Hypotrichosis 7 | 1 | May 4, 2026 |
| Hypotrichosis 8 | 1 | Apr 9, 2026 |
| Hypouricemia, renal, 2 | 2 | May 4, 2026 |
| Ichthyosis, congenital, autosomal recessive 13 | 1 | May 4, 2026 |
| Imerslund-Grasbeck syndrome type 1 | 7 | May 5, 2026 |
| Imerslund-Grasbeck syndrome type 2 | 2 | May 4, 2026 |
| Immunodeficiency 122 | 1 | Apr 14, 2026 |
| Immunodeficiency 19 | 1 | Apr 14, 2026 |
| Immunodeficiency 23 | 1 | Apr 24, 2026 |
| Immunodeficiency 39 | 1 | May 4, 2026 |
| Immunodeficiency 51 | 1 | Apr 24, 2026 |
| Immunodeficiency 89 and autoimmunity | 1 | May 4, 2026 |
| Immunodeficiency 95 | 4 | May 4, 2026 |
| Immunodeficiency due to MASP-2 deficiency | 2 | May 4, 2026 |
| Immunodeficiency due to ficolin3 deficiency | 3 | May 4, 2026 |
| Immunodeficiency, common variable, 2 | 3 | May 5, 2026 |
| Immunodeficiency, common variable, 7 | 2 | May 4, 2026 |
| Immunoglobulin A deficiency 2 | 3 | May 5, 2026 |
| Infantile GM1 gangliosidosis | 4 | Apr 9, 2026 |
| Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 1 | Apr 9, 2026 |
| Infantile hypophosphatasia | 4 | May 4, 2026 |
| Infantile liver failure syndrome 1 | 1 | Apr 14, 2026 |
| Infantile liver failure syndrome 2 | 3 | Apr 24, 2026 |
| Infantile liver failure syndrome 3 | 2 | May 5, 2026 |
| Infantile nephronophthisis | 1 | Apr 9, 2026 |
| Infantile neuroaxonal dystrophy | 5 | May 4, 2026 |
| Infantile onset spinocerebellar ataxia | 2 | May 5, 2026 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | May 5, 2026 |
| Infertility associated with multi-tailed spermatozoa and excessive DNA | 2 | May 5, 2026 |
| Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive | 2 | May 4, 2026 |
| Inflammatory bowel disease 28 | 2 | Apr 9, 2026 |
| Inherited obesity | 1 | Apr 9, 2026 |
| Inherited prekallikrein deficiency | 1 | May 5, 2026 |
| Intellectual Developmental Disorder, Stocco Dos Santos Type | 1 | Apr 14, 2026 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Apr 9, 2026 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | May 4, 2026 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Apr 9, 2026 |
| Intellectual developmental disorder, X-linked 114 | 1 | Apr 14, 2026 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 | May 4, 2026 |
| Intellectual developmental disorder, autosomal recessive 78 | 1 | Apr 9, 2026 |
| Intellectual developmental disorder, autosomal recessive 82 | 1 | Apr 9, 2026 |
| Intellectual disability | 1 | Apr 14, 2026 |
| Intellectual disability, autosomal recessive 1 | 2 | May 5, 2026 |
| Intellectual disability, autosomal recessive 18 | 1 | May 4, 2026 |
| Intellectual disability, autosomal recessive 3 | 1 | Apr 14, 2026 |
| Intellectual disability, autosomal recessive 43 | 3 | Apr 9, 2026 |
| Intellectual disability, autosomal recessive 44 | 1 | Apr 9, 2026 |
| Intellectual disability, autosomal recessive 47 | 1 | May 5, 2026 |
| Intellectual disability, autosomal recessive 52 | 1 | May 5, 2026 |
| Intellectual disability, autosomal recessive 53 | 2 | May 4, 2026 |
| Intellectual disability, autosomal recessive 58 | 1 | Apr 9, 2026 |
| Intellectual disability-strabismus syndrome | 1 | May 5, 2026 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Apr 14, 2026 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 1 | Apr 9, 2026 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 | Apr 9, 2026 |
| Iodotyrosine deiodination defect | 2 | Apr 14, 2026 |
| Iodotyrosyl coupling defect | 4 | Apr 24, 2026 |
| Isolated congenital digital clubbing | 2 | May 5, 2026 |
| Isolated cryptophthalmia | 3 | Apr 24, 2026 |
| Isolated growth hormone deficiency, type 5 | 1 | May 5, 2026 |
| Isolated hyperchlorhidrosis | 1 | Apr 14, 2026 |
| Isolated microphthalmia 2 | 1 | Apr 9, 2026 |
| Isolated microphthalmia 5 | 4 | May 4, 2026 |
| Isovaleryl-CoA dehydrogenase deficiency | 2 | Apr 9, 2026 |
| Jervell and Lange-Nielsen syndrome 2 | 1 | May 4, 2026 |
| Joubert syndrome 1 | 2 | May 5, 2026 |
| Joubert syndrome 15 | 1 | May 4, 2026 |
| Joubert syndrome 17 | 4 | May 5, 2026 |
| Joubert syndrome 21 | 2 | May 5, 2026 |
| Joubert syndrome 23 | 4 | Apr 24, 2026 |
| Joubert syndrome 24 | 1 | Apr 9, 2026 |
| Joubert syndrome 26 | 1 | May 5, 2026 |
| Joubert syndrome 28 | 2 | Apr 14, 2026 |
| Joubert syndrome 3 | 8 | May 5, 2026 |
| Joubert syndrome 30 | 2 | May 4, 2026 |
| Joubert syndrome 31 | 1 | Apr 9, 2026 |
| Joubert syndrome 33 | 2 | May 4, 2026 |
| Joubert syndrome 36 | 1 | May 4, 2026 |
| Joubert syndrome 37 | 2 | May 4, 2026 |
| Joubert syndrome 38 | 2 | Apr 9, 2026 |
| Joubert syndrome 5 | 3 | May 4, 2026 |
| Joubert syndrome 6 | 1 | Oct 6, 2025 |
| Joubert syndrome 7 | 1 | Apr 9, 2026 |
| Joubert syndrome 8 | 2 | May 5, 2026 |
| Joubert syndrome 9 | 3 | Apr 24, 2026 |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 | Apr 14, 2026 |
| Junctional epidermolysis bullosa, non-Herlitz type | 2 | Apr 14, 2026 |
| Juvenile nephropathic cystinosis | 2 | May 5, 2026 |
| Kahrizi syndrome | 2 | Apr 9, 2026 |
| Kartagener syndrome | 1 | May 5, 2026 |
| Karyomegalic interstitial nephritis | 1 | Apr 9, 2026 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Apr 24, 2026 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2 | May 5, 2026 |
| Knobloch syndrome 1 | 1 | May 4, 2026 |
| Kufor-Rakeb syndrome | 6 | May 5, 2026 |
| L-2-hydroxyglutaric aciduria | 2 | May 5, 2026 |
| L-ferritin deficiency | 2 | Apr 9, 2026 |
| LIPE-related familial partial lipodystrophy | 3 | May 5, 2026 |
| Lactic aciduria due to D-lactic acid | 1 | May 5, 2026 |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 1 | Apr 9, 2026 |
| Laryngo-onycho-cutaneous syndrome | 1 | Oct 6, 2025 |
| Laurence-Moon syndrome | 3 | May 4, 2026 |
| Leber congenital amaurosis 1 | 2 | Apr 9, 2026 |
| Leber congenital amaurosis 10 | 3 | May 4, 2026 |
| Leber congenital amaurosis 13 | 3 | Apr 9, 2026 |
| Leber congenital amaurosis 19 | 5 | May 5, 2026 |
| Leber congenital amaurosis 2 | 2 | May 4, 2026 |
| Leber congenital amaurosis 3 | 1 | May 5, 2026 |
| Leber congenital amaurosis 4 | 1 | May 4, 2026 |
| Leber congenital amaurosis 6 | 3 | May 5, 2026 |
| Leber congenital amaurosis 8 | 4 | May 4, 2026 |
| Leber congenital amaurosis 9 | 1 | Apr 24, 2026 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 1 | May 4, 2026 |
| Lethal congenital contracture syndrome 1 | 1 | May 4, 2026 |
| Lethal congenital contracture syndrome 11 | 1 | Apr 9, 2026 |
| Lethal congenital contracture syndrome 2 | 1 | Apr 9, 2026 |
| Lethal congenital contracture syndrome 4 | 1 | May 4, 2026 |
| Lethal congenital contracture syndrome 7 | 1 | Apr 9, 2026 |
| Lethal congenital contracture syndrome 9 | 1 | May 4, 2026 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Apr 24, 2026 |
| Lethal multiple pterygium syndrome | 5 | Apr 24, 2026 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 1 | Apr 9, 2026 |
| Leukodystrophy, hypomyelinating, 15 | 1 | Apr 14, 2026 |
| Leukodystrophy, hypomyelinating, 2 | 1 | May 4, 2026 |
| Leukodystrophy, hypomyelinating, 27 | 2 | May 4, 2026 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 2 | May 5, 2026 |
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 1 | May 5, 2026 |
| Leukodystrophy, hypomyelinating, 9 | 1 | Apr 9, 2026 |
| Leukoencephalopathy with calcifications and cysts | 4 | May 4, 2026 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 | Apr 9, 2026 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Apr 14, 2026 |
| Leukoencephalopathy with vanishing white matter 2 | 1 | Apr 24, 2026 |
| Leukoencephalopathy with vanishing white matter 4 | 2 | May 4, 2026 |
| Leukoencephalopathy with vanishing white matter 5 | 1 | Apr 9, 2026 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 | May 4, 2026 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 1 | Apr 14, 2026 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | May 5, 2026 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 | Apr 9, 2026 |
| Li-Takada-Miyake syndrome | 1 | May 4, 2026 |
| Liberfarb syndrome | 1 | May 4, 2026 |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 | Apr 9, 2026 |
| Lipase deficiency, combined | 3 | Apr 9, 2026 |
| Lipid proteinosis | 2 | May 4, 2026 |
| Lipodystrophy, congenital generalized, type 5 | 2 | May 4, 2026 |
| Lipodystrophy, familial partial, type 9 | 1 | Apr 9, 2026 |
| Lipoic acid synthetase deficiency | 3 | May 4, 2026 |
| Lissencephaly 4 | 2 | May 5, 2026 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2 | Apr 14, 2026 |
| Lopes-Maciel-Rodan syndrome | 1 | Apr 9, 2026 |
| Low phospholipid associated cholelithiasis | 3 | May 5, 2026 |
| Lucey-Driscoll syndrome | 5 | May 5, 2026 |
| Lymphatic malformation 6 | 3 | May 5, 2026 |
| MGAT2-congenital disorder of glycosylation | 1 | May 4, 2026 |
| MHC class I deficiency 3 | 1 | Apr 9, 2026 |
| MHC class II deficiency 2 | 1 | Apr 24, 2026 |
| MORM syndrome | 2 | May 5, 2026 |
| MPDU1-congenital disorder of glycosylation | 2 | May 5, 2026 |
| MYPN-related myopathy | 1 | Apr 24, 2026 |
| Macular corneal dystrophy | 2 | May 4, 2026 |
| Macular dystrophy with central cone involvement | 2 | May 4, 2026 |
| Mandibuloacral dysplasia with type A lipodystrophy | 2 | May 4, 2026 |
| Maple syrup urine disease type 1A | 3 | May 5, 2026 |
| Maple syrup urine disease type 1B | 1 | May 4, 2026 |
| Martsolf syndrome 2 | 4 | May 5, 2026 |
| McKusick-Kaufman syndrome | 1 | May 4, 2026 |
| Meckel syndrome, type 1 | 2 | Apr 14, 2026 |
| Meckel syndrome, type 3 | 1 | Oct 6, 2025 |
| Meckel syndrome, type 4 | 3 | May 4, 2026 |
| Meckel syndrome, type 5 | 1 | Apr 9, 2026 |
| Meckel syndrome, type 6 | 3 | Apr 24, 2026 |
| Meckel syndrome, type 8 | 1 | Apr 9, 2026 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Apr 14, 2026 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 1 | May 4, 2026 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Apr 9, 2026 |
| Meier-Gorlin syndrome 3 | 1 | Apr 14, 2026 |
| Meier-Gorlin syndrome 4 | 1 | Apr 14, 2026 |
| Meier-Gorlin syndrome 7 | 1 | Apr 14, 2026 |
| Merosin deficient congenital muscular dystrophy | 4 | May 4, 2026 |
| Metachromatic leukodystrophy | 8 | May 5, 2026 |
| Metaphyseal anadysplasia 2 | 1 | Apr 9, 2026 |
| Metaphyseal chondrodysplasia, Spahr type | 1 | May 5, 2026 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 2 | May 5, 2026 |
| Methylcobalamin deficiency type cblE | 4 | Apr 14, 2026 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 | Apr 24, 2026 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 2 | Apr 14, 2026 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Apr 14, 2026 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 5 | May 5, 2026 |
| Mevalonic aciduria | 1 | Apr 9, 2026 |
| Microcephalic osteodysplastic primordial dwarfism type II | 2 | May 4, 2026 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 | Apr 24, 2026 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Apr 24, 2026 |
| Microcephaly 1, primary, autosomal recessive | 2 | May 4, 2026 |
| Microcephaly 14, primary, autosomal recessive | 1 | Apr 24, 2026 |
| Microcephaly 16, primary, autosomal recessive | 1 | Apr 9, 2026 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 3 | May 4, 2026 |
| Microcephaly 21, primary, autosomal recessive | 3 | May 4, 2026 |
| Microcephaly 22, primary, autosomal recessive | 3 | May 4, 2026 |
| Microcephaly 3, primary, autosomal recessive | 3 | May 5, 2026 |
| Microcephaly 4, primary, autosomal recessive | 1 | Apr 24, 2026 |
| Microcephaly 5, primary, autosomal recessive | 3 | Apr 14, 2026 |
| Microcephaly 6, primary, autosomal recessive | 1 | Apr 9, 2026 |
| Microcephaly 8, primary, autosomal recessive | 2 | May 5, 2026 |
| Microcephaly 9, primary, autosomal recessive | 2 | May 4, 2026 |
| Microcephaly and chorioretinopathy 1 | 2 | Apr 14, 2026 |
| Microcephaly, developmental delay, and brittle hair syndrome | 1 | Apr 9, 2026 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 3 | May 5, 2026 |
| Microcephaly, seizures, and developmental delay | 2 | May 5, 2026 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 2 | May 4, 2026 |
| Microcephaly, short stature, and limb abnormalities | 1 | May 5, 2026 |
| Microcephaly-capillary malformation syndrome | 2 | May 4, 2026 |
| Microcephaly-micromelia syndrome | 1 | May 5, 2026 |
| Microcornea-myopic chorioretinal atrophy | 1 | Apr 14, 2026 |
| Microphthalmia, isolated, with coloboma 3 | 1 | Apr 9, 2026 |
| Microphthalmia, isolated, with coloboma 9 | 1 | May 4, 2026 |
| Migraine, familial hemiplegic, 2 | 1 | Apr 24, 2026 |
| Miller syndrome | 1 | Apr 9, 2026 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Apr 9, 2026 |
| Mitochondrial DNA depletion syndrome 11 | 1 | Apr 9, 2026 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Apr 14, 2026 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Apr 9, 2026 |
| Mitochondrial DNA depletion syndrome 4b | 7 | May 4, 2026 |
| Mitochondrial DNA depletion syndrome 8a | 1 | Oct 6, 2025 |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 | Apr 24, 2026 |
| Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 | 1 | Apr 14, 2026 |
| Mitochondrial complex I deficiency, nuclear type 16 | 1 | May 4, 2026 |
| Mitochondrial complex I deficiency, nuclear type 17 | 1 | Apr 9, 2026 |
| Mitochondrial complex I deficiency, nuclear type 21 | 1 | Apr 9, 2026 |
| Mitochondrial complex I deficiency, nuclear type 23 | 1 | Apr 9, 2026 |
| Mitochondrial complex I deficiency, nuclear type 26 | 1 | May 5, 2026 |
| Mitochondrial complex I deficiency, nuclear type 27 | 3 | Apr 24, 2026 |
| Mitochondrial complex I deficiency, nuclear type 28 | 2 | May 5, 2026 |
| Mitochondrial complex I deficiency, nuclear type 29 | 2 | May 4, 2026 |
| Mitochondrial complex I deficiency, nuclear type 3 | 1 | Apr 9, 2026 |
| Mitochondrial complex I deficiency, nuclear type 33 | 2 | May 4, 2026 |
| Mitochondrial complex I deficiency, nuclear type 36 | 1 | May 5, 2026 |
| Mitochondrial complex I deficiency, nuclear type 4 | 3 | May 4, 2026 |
| Mitochondrial complex I deficiency, nuclear type 5 | 3 | May 4, 2026 |
| Mitochondrial complex I deficiency, nuclear type 7 | 1 | May 5, 2026 |
| Mitochondrial complex II deficiency, nuclear type 1 | 3 | May 5, 2026 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | May 4, 2026 |
| Mitochondrial complex III deficiency nuclear type 4 | 1 | Apr 2, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 1 | Apr 24, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 14 | 1 | Apr 24, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 22 | 1 | May 4, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 3 | 2 | Apr 9, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 4 | 1 | Apr 9, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 8 | 1 | Apr 14, 2026 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 2 | Apr 14, 2026 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 1 | Apr 9, 2026 |
| Mitochondrial trifunctional protein deficiency 1 | 2 | Apr 14, 2026 |
| Miyoshi muscular dystrophy 1 | 1 | Apr 9, 2026 |
| Miyoshi muscular dystrophy 3 | 3 | Apr 14, 2026 |
| Mohr syndrome | 1 | Apr 14, 2026 |
| Morimoto-Ryu-Malicdan neuromuscular syndrome | 1 | May 4, 2026 |
| Mosaic variegated aneuploidy syndrome 1 | 1 | Apr 24, 2026 |
| Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition | 1 | May 4, 2026 |
| Moyamoya disease with early-onset achalasia | 1 | May 4, 2026 |
| Mucopolysaccharidosis, MPS-I-H/S | 1 | Apr 14, 2026 |
| Mucopolysaccharidosis, MPS-I-S | 1 | Apr 14, 2026 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Apr 9, 2026 |
| Mucopolysaccharidosis, MPS-III-B | 1 | May 4, 2026 |
| Mucopolysaccharidosis, MPS-IV-A | 7 | May 5, 2026 |
| Mucopolysaccharidosis, MPS-IV-B | 4 | Apr 9, 2026 |
| Mucopolysaccharidosis, type 10 | 1 | Apr 9, 2026 |
| Multiple acyl-CoA dehydrogenase deficiency | 3 | May 4, 2026 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 4 | May 4, 2026 |
| Multiple epiphyseal dysplasia type 4 | 2 | May 5, 2026 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 2 | May 4, 2026 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | Apr 9, 2026 |
| Multiple mitochondrial dysfunctions syndrome 10 | 1 | May 4, 2026 |
| Multiple mitochondrial dysfunctions syndrome 7 | 1 | May 4, 2026 |
| Multiple mitochondrial dysfunctions syndrome 9b | 1 | May 5, 2026 |
| Multiple sulfatase deficiency | 2 | May 5, 2026 |
| Multiple symmetric lipomatosis | 3 | May 4, 2026 |
| Muscle AMP deaminase deficiency | 4 | May 5, 2026 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 1 | Apr 9, 2026 |
| Muscular dystrophy, congenital, with rapid progression | 1 | Apr 14, 2026 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 4 | May 4, 2026 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 1 | May 4, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | May 4, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 3 | Apr 14, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 | Apr 14, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2 | Apr 14, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 4 | May 4, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Apr 24, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | Apr 9, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 3 | Apr 14, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 | Apr 14, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | May 4, 2026 |
| Muscular dystrophy-dystroglycanopathy type B5 | 4 | May 4, 2026 |
| Myeloperoxidase deficiency | 5 | Apr 24, 2026 |
| Myofibrillar myopathy 10 | 3 | Apr 9, 2026 |
| Myofibrillar myopathy 11 | 1 | May 4, 2026 |
| Myofibrillar myopathy 7 | 1 | Apr 14, 2026 |
| Myopathy with abnormal lipid metabolism | 1 | May 4, 2026 |
| Myopathy, distal, 5 | 1 | Apr 14, 2026 |
| Myopathy, proximal, and ophthalmoplegia | 2 | May 5, 2026 |
| Myopia 23, autosomal recessive | 1 | Apr 9, 2026 |
| Myopia 28, autosomal recessive | 2 | May 5, 2026 |
| Myopia, high, with cataract and vitreoretinal degeneration | 3 | May 4, 2026 |
| Myosclerosis | 1 | Apr 9, 2026 |
| NDE1-related microhydranencephaly | 2 | May 5, 2026 |
| NPHP3-related Meckel-like syndrome | 1 | Apr 9, 2026 |
| Nanophthalmos 2 | 4 | May 4, 2026 |
| Nemaline myopathy 10 | 2 | May 4, 2026 |
| Nemaline myopathy 2 | 3 | May 5, 2026 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | May 4, 2026 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 4 | Apr 9, 2026 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 2 | May 5, 2026 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | May 4, 2026 |
| Nephronophthisis 11 | 1 | Oct 6, 2025 |
| Nephronophthisis 12 | 1 | May 4, 2026 |
| Nephronophthisis 20 | 1 | May 4, 2026 |
| Nephronophthisis 3 | 1 | Apr 9, 2026 |
| Nephronophthisis 9 | 1 | Apr 9, 2026 |
| Nephropathic cystinosis | 2 | May 5, 2026 |
| Nephrotic syndrome, IIa 26 | 4 | May 4, 2026 |
| Nephrotic syndrome, type 12 | 1 | Apr 9, 2026 |
| Nephrotic syndrome, type 20 | 1 | May 4, 2026 |
| Nephrotic syndrome, type 21 | 3 | May 4, 2026 |
| Nephrotic syndrome, type 23 | 1 | May 5, 2026 |
| Nephrotic syndrome, type 24 | 1 | Apr 9, 2026 |
| Nephrotic syndrome, type 9 | 3 | May 4, 2026 |
| Neu-Laxova syndrome 1 | 1 | Apr 9, 2026 |
| Neu-Laxova syndrome 2 | 2 | May 4, 2026 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 2 | Apr 24, 2026 |
| Neurodegeneration with brain iron accumulation 2B | 5 | May 4, 2026 |
| Neurodegeneration with brain iron accumulation 6 | 1 | May 5, 2026 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Apr 9, 2026 |
| Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | 1 | May 5, 2026 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 | Apr 14, 2026 |
| Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | 2 | Apr 24, 2026 |
| Neurodegeneration, infantile-onset, biotin-responsive | 1 | Apr 9, 2026 |
| Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | 1 | May 4, 2026 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 1 | May 4, 2026 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 3 | Apr 14, 2026 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | May 4, 2026 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 1 | Apr 14, 2026 |
| Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with hearing loss and spasticity | 1 | May 4, 2026 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Apr 24, 2026 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | 1 | May 4, 2026 |
| Neurodevelopmental disorder with language delay and seizures | 1 | May 4, 2026 |
| Neurodevelopmental disorder with microcephaly and movement abnormalities | 1 | May 4, 2026 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | Apr 14, 2026 |
| Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | 1 | May 5, 2026 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 3 | May 4, 2026 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 1 | Apr 24, 2026 |
| Neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | 1 | Apr 9, 2026 |
| Neurodevelopmental disorder with poor growth and skeletal anomalies | 1 | May 4, 2026 |
| Neurodevelopmental disorder with progressive spasticity and brain abnormalities | 1 | May 4, 2026 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 2 | May 4, 2026 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 | Apr 24, 2026 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Oct 6, 2025 |
| Neurofibromatosis, type 1 | 1 | May 5, 2026 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 1 | Apr 24, 2026 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Apr 14, 2026 |
| Neuronal ceroid lipofuscinosis 11 | 1 | Apr 9, 2026 |
| Neuronal ceroid lipofuscinosis 2 | 1 | May 4, 2026 |
| Neuronal ceroid lipofuscinosis 3 | 3 | May 5, 2026 |
| Neuronal ceroid lipofuscinosis 7 | 2 | May 4, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity | 1 | Apr 9, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 1 | May 4, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2 | May 4, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 2 | May 4, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | May 5, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 9 | 1 | May 4, 2026 |
| Neurooculorenal syndrome | 2 | May 4, 2026 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Apr 9, 2026 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 1 | Apr 9, 2026 |
| Neuropathy, hereditary sensory, type 2C | 1 | Apr 9, 2026 |
| Neutral 1 amino acid transport defect | 1 | Apr 9, 2026 |
| Newfoundland cone-rod dystrophy | 2 | May 4, 2026 |
| Niemann-Pick disease, type A | 5 | May 4, 2026 |
| Niemann-Pick disease, type B | 5 | May 4, 2026 |
| Niemann-Pick disease, type C1 | 6 | May 4, 2026 |
| Night blindness, congenital stationary, type1i | 2 | Apr 9, 2026 |
| Nijmegen breakage syndrome-like disorder | 3 | May 4, 2026 |
| Nonsyndromic congenital nail disorder 3 | 2 | May 4, 2026 |
| Noonan syndrome 14 | 1 | Apr 9, 2026 |
| Noonan syndrome 2 | 1 | Apr 24, 2026 |
| Normophosphatemic familial tumoral calcinosis | 1 | May 4, 2026 |
| Nystagmus, congenital, autosomal recessive | 2 | May 4, 2026 |
| Occipital pachygyria and polymicrogyria | 3 | May 5, 2026 |
| Ocular cystinosis | 2 | May 5, 2026 |
| Oculocutaneous albinism type 1A | 6 | May 5, 2026 |
| Oculocutaneous albinism type 1B | 6 | May 5, 2026 |
| Oculocutaneous albinism type 3 | 2 | Apr 14, 2026 |
| Oculocutaneous albinism type 4 | 4 | Apr 24, 2026 |
| Oculocutaneous albinism type 6 | 1 | Apr 24, 2026 |
| Oculocutaneous albinism type 7 | 1 | Apr 9, 2026 |
| Oculotrichoanal syndrome | 1 | Apr 14, 2026 |
| Odonto-onycho-dermal dysplasia | 1 | Apr 14, 2026 |
| Odontochondrodysplasia 1 | 2 | Apr 9, 2026 |
| Oguchi disease-1 | 3 | May 5, 2026 |
| Oguchi disease-2 | 3 | May 4, 2026 |
| Oocyte maturation defect 14 | 1 | May 4, 2026 |
| Oocyte maturation defect 2 | 2 | Apr 14, 2026 |
| Oocyte maturation defect 4 | 1 | Apr 9, 2026 |
| Oocyte maturation defect 6 | 1 | Apr 24, 2026 |
| Oocyte/zygote/embryo maturation arrest 19 | 1 | Apr 14, 2026 |
| Oocyte/zygote/embryo maturation arrest 20 | 2 | May 4, 2026 |
| Orofaciodigital syndrome 17 | 1 | Apr 9, 2026 |
| Orofaciodigital syndrome 18 | 1 | May 4, 2026 |
| Orofaciodigital syndrome XV | 2 | Apr 9, 2026 |
| Orofaciodigital syndrome type 6 | 4 | May 5, 2026 |
| Osteogenesis imperfecta type 13 | 1 | May 5, 2026 |
| Osteogenesis imperfecta type 8 | 1 | Apr 24, 2026 |
| Osteootohepatoenteric syndrome | 1 | May 4, 2026 |
| Osteoporosis with pseudoglioma | 3 | Apr 14, 2026 |
| Osteosclerotic metaphyseal dysplasia | 2 | May 5, 2026 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 | Apr 14, 2026 |
| Ovarian dysgenesis 1 | 1 | Apr 24, 2026 |
| Ovarian dysgenesis 3 | 1 | Apr 14, 2026 |
| Ovarian dysgenesis 5 | 2 | May 4, 2026 |
| Ovarian dysgenesis 6 | 1 | May 5, 2026 |
| PEHO syndrome | 1 | Apr 24, 2026 |
| PGM1-congenital disorder of glycosylation | 1 | Apr 9, 2026 |
| PHGDH deficiency | 1 | Apr 9, 2026 |
| PMM2-congenital disorder of glycosylation | 1 | Apr 9, 2026 |
| PSAT deficiency | 2 | May 4, 2026 |
| Paganini-Miozzo syndrome | 1 | May 5, 2026 |
| Palmoplantar keratoderma, Nagashima type | 1 | May 4, 2026 |
| Pancreatic agenesis 1 | 1 | May 5, 2026 |
| Pancytopenia-developmental delay syndrome | 2 | May 4, 2026 |
| Papillon-Lefèvre syndrome | 1 | May 4, 2026 |
| Parkinsonism-dystonia 3, childhood-onset | 1 | Oct 6, 2025 |
| Partial androgen insensitivity syndrome | 1 | May 5, 2026 |
| Peeling skin syndrome 5 | 1 | May 4, 2026 |
| Peeling skin syndrome 6 | 1 | Apr 24, 2026 |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 1 | May 4, 2026 |
| Pendred syndrome | 10 | May 5, 2026 |
| Periodontitis, aggressive 1 | 1 | May 4, 2026 |
| Peripheral motor neuropathy, childhood-onset, biotin-responsive | 1 | Apr 9, 2026 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | May 4, 2026 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 1 | Apr 24, 2026 |
| Peroxisome biogenesis disorder 11B | 1 | Apr 24, 2026 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Apr 9, 2026 |
| Peroxisome biogenesis disorder 1B | 1 | Apr 9, 2026 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 2 | Apr 24, 2026 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 3 | May 5, 2026 |
| Peroxisome biogenesis disorder 4B | 3 | May 5, 2026 |
| Peroxisome biogenesis disorder 9B | 1 | Apr 14, 2026 |
| Peroxisome biogenesis disorder type 3B | 2 | Apr 24, 2026 |
| Perrault syndrome 2 | 1 | Apr 9, 2026 |
| Perrault syndrome 5 | 2 | May 5, 2026 |
| Phenylketonuria | 5 | Apr 9, 2026 |
| Phosphate transport defect | 1 | May 4, 2026 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 2 | Apr 24, 2026 |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 2 | Apr 9, 2026 |
| Phosphoribosylaminoimidazole carboxylase deficiency | 1 | May 4, 2026 |
| Phytanic acid storage disease | 1 | May 4, 2026 |
| Pigmentary retinal dystrophy | 4 | May 4, 2026 |
| Pili torti-deafness syndrome | 1 | May 4, 2026 |
| Pili torti-developmental delay-neurological abnormalities syndrome | 2 | May 4, 2026 |
| Pitt-Hopkins-like syndrome 2 | 1 | May 4, 2026 |
| Plasminogen deficiency, type I | 1 | Apr 14, 2026 |
| Platelet-type bleeding disorder 11 | 2 | Apr 14, 2026 |
| Polycystic kidney disease 2 | 1 | Apr 9, 2026 |
| Polycystic kidney disease 4 | 7 | May 5, 2026 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 1 | Apr 14, 2026 |
| Polydactyly of a biphalangeal thumb | 1 | May 4, 2026 |
| Polydactyly, postaxial, type A8 | 1 | May 4, 2026 |
| Polydactyly, postaxial, type A9 | 1 | May 4, 2026 |
| Polydactyly, postaxial, type a7 | 1 | May 5, 2026 |
| Polyendocrine-polyneuropathy syndrome | 1 | Apr 9, 2026 |
| Polyglucosan body myopathy type 2 | 1 | Oct 6, 2025 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 3 | Apr 24, 2026 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 | Apr 9, 2026 |
| Pontocerebellar hypoplasia type 1B | 3 | May 4, 2026 |
| Pontocerebellar hypoplasia type 2A | 3 | May 5, 2026 |
| Pontocerebellar hypoplasia type 2D | 1 | Apr 9, 2026 |
| Pontocerebellar hypoplasia type 2E | 1 | Apr 9, 2026 |
| Pontocerebellar hypoplasia type 4 | 3 | May 5, 2026 |
| Pontocerebellar hypoplasia type 5 | 3 | May 5, 2026 |
| Pontocerebellar hypoplasia type 6 | 4 | May 4, 2026 |
| Pontocerebellar hypoplasia type 7 | 2 | May 4, 2026 |
| Pontocerebellar hypoplasia type 9 | 1 | Apr 9, 2026 |
| Pontocerebellar hypoplasia, IIA 17 | 1 | May 4, 2026 |
| Pontocerebellar hypoplasia, type 12 | 1 | May 5, 2026 |
| Pontocerebellar hypoplasia, type 1C | 1 | Apr 9, 2026 |
| Pontocerebellar hypoplasia, type 1D | 1 | Apr 9, 2026 |
| Portal hypertension, noncirrhotic, 1 | 1 | Apr 9, 2026 |
| Portal hypertension, noncirrhotic, 2 | 1 | Apr 9, 2026 |
| Preimplantation embryonic lethality 1 | 1 | Apr 24, 2026 |
| Premature ovarian failure 12 | 1 | Apr 24, 2026 |
| Premature ovarian failure 13 | 3 | May 5, 2026 |
| Premature ovarian failure 15 | 3 | May 4, 2026 |
| Premature ovarian failure 18 | 2 | May 5, 2026 |
| Premature ovarian failure 20 | 2 | May 5, 2026 |
| Premature ovarian failure 22 | 2 | May 5, 2026 |
| Premature ovarian failure 24 | 2 | May 4, 2026 |
| Premature ovarian failure 25 | 1 | May 5, 2026 |
| Premature ovarian failure 8 | 1 | May 4, 2026 |
| Premature ovarian failure 9 | 4 | May 5, 2026 |
| Pretibial dystrophic epidermolysis bullosa | 6 | Apr 24, 2026 |
| Primary ciliary dyskinesia 11 | 1 | Apr 24, 2026 |
| Primary ciliary dyskinesia 12 | 2 | May 5, 2026 |
| Primary ciliary dyskinesia 13 | 5 | May 5, 2026 |
| Primary ciliary dyskinesia 14 | 1 | Apr 9, 2026 |
| Primary ciliary dyskinesia 17 | 1 | Apr 24, 2026 |
| Primary ciliary dyskinesia 19 | 3 | Apr 24, 2026 |
| Primary ciliary dyskinesia 2 | 1 | May 4, 2026 |
| Primary ciliary dyskinesia 20 | 1 | May 4, 2026 |
| Primary ciliary dyskinesia 22 | 1 | May 5, 2026 |
| Primary ciliary dyskinesia 23 | 2 | May 4, 2026 |
| Primary ciliary dyskinesia 24 | 1 | May 4, 2026 |
| Primary ciliary dyskinesia 26 | 1 | May 5, 2026 |
| Primary ciliary dyskinesia 28 | 1 | May 5, 2026 |
| Primary ciliary dyskinesia 29 | 1 | May 4, 2026 |
| Primary ciliary dyskinesia 3 | 6 | Apr 9, 2026 |
| Primary ciliary dyskinesia 30 | 1 | Apr 9, 2026 |
| Primary ciliary dyskinesia 35 | 2 | May 4, 2026 |
| Primary ciliary dyskinesia 5 | 3 | May 4, 2026 |
| Primary ciliary dyskinesia 6 | 2 | May 4, 2026 |
| Primary ciliary dyskinesia 7 | 2 | Apr 24, 2026 |
| Primary coenzyme Q10 deficiency 8 | 1 | May 4, 2026 |
| Primary hyperoxaluria type 3 | 6 | May 5, 2026 |
| Primary hyperoxaluria, type I | 5 | May 5, 2026 |
| Primary hyperoxaluria, type II | 1 | Apr 9, 2026 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 | May 4, 2026 |
| Progressive bulbar palsy of childhood | 1 | Apr 24, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 7 | May 4, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 1 | Apr 9, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 1 | Apr 24, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 | Apr 9, 2026 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Apr 14, 2026 |
| Progressive familial intrahepatic cholestasis type 3 | 3 | May 5, 2026 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | May 5, 2026 |
| Progressive pseudorheumatoid dysplasia | 1 | Apr 9, 2026 |
| Progressive sclerosing poliodystrophy | 7 | May 4, 2026 |
| Proline dehydrogenase deficiency | 1 | Apr 9, 2026 |
| Prolonged electroretinal response suppression 1 | 1 | May 4, 2026 |
| Prolonged electroretinal response suppression 2 | 1 | May 5, 2026 |
| Propionic acidemia | 3 | Apr 9, 2026 |
| Proteasome-associated autoinflammatory syndrome 5 | 1 | Apr 9, 2026 |
| Proteinuria, chronic benign | 7 | May 5, 2026 |
| Protoporphyria, erythropoietic, 1 | 2 | Apr 9, 2026 |
| Proximal myopathy with extrapyramidal signs | 1 | May 4, 2026 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 3 | May 4, 2026 |
| Pulmonary hypertension, primary, 6 | 2 | Apr 24, 2026 |
| Pyknodysostosis | 1 | May 4, 2026 |
| Pyridoxine-dependent epilepsy | 2 | May 5, 2026 |
| Pyropoikilocytosis, hereditary | 3 | May 4, 2026 |
| Pyruvate dehydrogenase E3 deficiency | 1 | Apr 9, 2026 |
| Pyruvate kinase deficiency of red cells | 2 | May 4, 2026 |
| RCBTB1-related retinopathy | 1 | May 4, 2026 |
| RECON progeroid syndrome | 2 | Apr 9, 2026 |
| RFT1-congenital disorder of glycosylation | 1 | May 5, 2026 |
| RHYNS syndrome | 1 | Oct 6, 2025 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Apr 9, 2026 |
| Rajab interstitial lung disease with brain calcifications 1 | 1 | Apr 9, 2026 |
| Rapadilino syndrome | 7 | May 5, 2026 |
| Recessive dystrophic epidermolysis bullosa | 6 | Apr 24, 2026 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | Apr 24, 2026 |
| Regressive spondylometaphyseal dysplasia | 1 | May 5, 2026 |
| Renal carnitine transport defect | 8 | May 5, 2026 |
| Renal hypomagnesemia 4 | 1 | May 5, 2026 |
| Renal tubular acidosis with progressive nerve deafness | 2 | May 4, 2026 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 3 | May 4, 2026 |
| Renal tubular dysgenesis of genetic origin | 3 | Apr 24, 2026 |
| Renal-hepatic-pancreatic dysplasia 1 | 1 | Apr 9, 2026 |
| Renal-hepatic-pancreatic dysplasia 2 | 2 | Apr 9, 2026 |
| Retinal cone dystrophy 4 | 1 | May 5, 2026 |
| Retinitis pigmentosa 12 | 4 | May 4, 2026 |
| Retinitis pigmentosa 19 | 24 | May 5, 2026 |
| Retinitis pigmentosa 20 | 2 | May 4, 2026 |
| Retinitis pigmentosa 25 | 8 | May 5, 2026 |
| Retinitis pigmentosa 26 | 3 | May 4, 2026 |
| Retinitis pigmentosa 28 | 5 | May 4, 2026 |
| Retinitis pigmentosa 36 | 2 | May 5, 2026 |
| Retinitis pigmentosa 37 | 4 | May 4, 2026 |
| Retinitis pigmentosa 38 | 2 | May 4, 2026 |
| Retinitis pigmentosa 39 | 11 | May 5, 2026 |
| Retinitis pigmentosa 40 | 1 | Apr 9, 2026 |
| Retinitis pigmentosa 43 | 1 | Apr 14, 2026 |
| Retinitis pigmentosa 45 | 5 | Apr 24, 2026 |
| Retinitis pigmentosa 47 | 3 | May 5, 2026 |
| Retinitis pigmentosa 49 | 1 | Apr 9, 2026 |
| Retinitis pigmentosa 54 | 1 | Apr 9, 2026 |
| Retinitis pigmentosa 56 | 1 | May 4, 2026 |
| Retinitis pigmentosa 61 | 1 | Apr 14, 2026 |
| Retinitis pigmentosa 69 | 3 | Apr 24, 2026 |
| Retinitis pigmentosa 7 | 3 | May 4, 2026 |
| Retinitis pigmentosa 71 | 2 | May 4, 2026 |
| Retinitis pigmentosa 74 | 1 | Apr 2, 2025 |
| Retinitis pigmentosa 75 | 1 | Apr 9, 2026 |
| Retinitis pigmentosa 77 | 3 | May 4, 2026 |
| Retinitis pigmentosa 78 | 2 | May 4, 2026 |
| Retinitis pigmentosa 80 | 3 | Apr 9, 2026 |
| Retinitis pigmentosa 81 | 5 | May 5, 2026 |
| Retinitis pigmentosa 86 | 1 | Apr 9, 2026 |
| Retinitis pigmentosa 88 | 4 | May 4, 2026 |
| Retinitis pigmentosa 92 | 3 | May 5, 2026 |
| Retinitis pigmentosa 93 | 3 | Apr 24, 2026 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 1 | Apr 14, 2026 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | Apr 14, 2026 |
| Rhizomelic chondrodysplasia punctata type 2 | 1 | May 5, 2026 |
| Right atrial isomerism | 1 | Apr 14, 2026 |
| Ritscher-Schinzel syndrome 1 | 1 | Apr 9, 2026 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 1 | Oct 6, 2025 |
| Rothmund-Thomson syndrome type 2 | 7 | May 5, 2026 |
| Rothmund-Thomson syndrome type 3 | 1 | May 4, 2026 |
| Rothmund-Thomson syndrome type 4 | 1 | Apr 24, 2026 |
| SCOTT SYNDROME | 2 | May 4, 2026 |
| SRD5A3-congenital disorder of glycosylation | 2 | Apr 9, 2026 |
| Saldino-Mainzer syndrome | 3 | Apr 9, 2026 |
| Salla disease | 1 | Apr 24, 2026 |
| Sandhoff disease | 3 | May 5, 2026 |
| Santos syndrome | 1 | Oct 6, 2025 |
| Sarcotubular myopathy | 1 | Apr 9, 2026 |
| Schinzel phocomelia syndrome | 1 | Oct 6, 2025 |
| Schöpf-Schulz-Passarge syndrome | 1 | Apr 14, 2026 |
| Sclerosteosis 1 | 1 | Apr 9, 2026 |
| Sclerosteosis 2 | 2 | Apr 24, 2026 |
| Sea-blue histiocyte syndrome | 1 | Apr 9, 2026 |
| Seckel syndrome 4 | 1 | Apr 9, 2026 |
| Seckel syndrome 5 | 2 | May 4, 2026 |
| Seckel syndrome 6 | 3 | May 5, 2026 |
| Seckel syndrome 7 | 1 | Apr 9, 2026 |
| Seckel syndrome 8 | 1 | Apr 24, 2026 |
| Sengers syndrome | 2 | Apr 14, 2026 |
| Senior-Loken syndrome 6 | 3 | May 4, 2026 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 7 | May 4, 2026 |
| Septo-optic dysplasia sequence | 1 | Apr 9, 2026 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | May 4, 2026 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 1 | May 4, 2026 |
| Severe combined immunodeficiency due to IKK2 deficiency | 1 | May 4, 2026 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2 | May 4, 2026 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 3 | May 4, 2026 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 1 | May 5, 2026 |
| Severe early-childhood-onset retinal dystrophy | 24 | May 5, 2026 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 1 | Apr 9, 2026 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Apr 9, 2026 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 | Apr 9, 2026 |
| Severe neurodegenerative syndrome with lipodystrophy | 3 | May 5, 2026 |
| Short stature due to growth hormone secretagogue receptor deficiency | 1 | May 4, 2026 |
| Short stature due to primary acid-labile subunit deficiency | 1 | Apr 9, 2026 |
| Short stature, Dauber-Argente type | 1 | Apr 9, 2026 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 1 | Apr 9, 2026 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | Apr 9, 2026 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | May 4, 2026 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 3 | Apr 24, 2026 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 2 | May 4, 2026 |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 1 | Apr 9, 2026 |
| Short-rib thoracic dysplasia 14 with polydactyly | 4 | Apr 24, 2026 |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 1 | May 4, 2026 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 1 | Apr 24, 2026 |
| Short-rib thoracic dysplasia 18 with polydactyly | 5 | May 5, 2026 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Apr 14, 2026 |
| Short-rib thoracic dysplasia 20 with polydactyly | 1 | Apr 9, 2026 |
| Short-rib thoracic dysplasia 21 without polydactyly | 2 | Apr 9, 2026 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 1 | Apr 14, 2026 |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 2 | Apr 14, 2026 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 1 | May 4, 2026 |
| Shwachman-Diamond syndrome 1 | 2 | Apr 9, 2026 |
| Sialic acid storage disease, severe infantile type | 1 | Apr 24, 2026 |
| Sideroblastic anemia 3 | 1 | Apr 14, 2026 |
| Sinoatrial node dysfunction and deafness | 1 | May 4, 2026 |
| Sitosterolemia 1 | 3 | May 5, 2026 |
| Sjögren-Larsson syndrome | 2 | Apr 9, 2026 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 1 | May 4, 2026 |
| Smith-Lemli-Opitz syndrome | 3 | May 4, 2026 |
| Smith-McCort dysplasia 1 | 1 | Apr 24, 2026 |
| Sneddon syndrome | 4 | Apr 9, 2026 |
| Spastic ataxia 10, autosomal recessive | 1 | May 4, 2026 |
| Spastic ataxia 2 | 1 | May 5, 2026 |
| Spastic ataxia 3 | 1 | Apr 9, 2026 |
| Spastic ataxia 4 | 1 | May 4, 2026 |
| Spastic ataxia 5 | 1 | Apr 24, 2026 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | May 4, 2026 |
| Spastic paraplegia 30B, autosomal recessive | 1 | Apr 9, 2026 |
| Spastic paraplegia 84, autosomal recessive | 1 | Apr 9, 2026 |
| Spastic paraplegia 86, autosomal recessive | 1 | May 5, 2026 |
| Spastic paraplegia 92, autosomal recessive | 1 | May 5, 2026 |
| Spastic paraplegia 93, autosomal recessive | 1 | Apr 9, 2026 |
| Spasticity-ataxia-gait anomalies syndrome | 1 | Apr 14, 2026 |
| Spermatogenic failure 14 | 2 | Apr 9, 2026 |
| Spermatogenic failure 15 | 1 | Apr 24, 2026 |
| Spermatogenic failure 16 | 1 | Apr 9, 2026 |
| Spermatogenic failure 17 | 1 | May 4, 2026 |
| Spermatogenic failure 18 | 3 | Apr 24, 2026 |
| Spermatogenic failure 19 | 3 | May 4, 2026 |
| Spermatogenic failure 2 | 2 | May 5, 2026 |
| Spermatogenic failure 20 | 2 | Apr 9, 2026 |
| Spermatogenic failure 21 | 1 | Apr 9, 2026 |
| Spermatogenic failure 23 | 3 | May 4, 2026 |
| Spermatogenic failure 25 | 6 | May 4, 2026 |
| Spermatogenic failure 27 | 1 | Apr 9, 2026 |
| Spermatogenic failure 28 | 3 | May 4, 2026 |
| Spermatogenic failure 30 | 2 | May 4, 2026 |
| Spermatogenic failure 31 | 2 | May 5, 2026 |
| Spermatogenic failure 33 | 3 | May 5, 2026 |
| Spermatogenic failure 34 | 5 | May 5, 2026 |
| Spermatogenic failure 35 | 3 | May 4, 2026 |
| Spermatogenic failure 37 | 2 | May 5, 2026 |
| Spermatogenic failure 38 | 1 | May 4, 2026 |
| Spermatogenic failure 40 | 1 | May 5, 2026 |
| Spermatogenic failure 42 | 1 | Apr 24, 2026 |
| Spermatogenic failure 44 | 2 | May 4, 2026 |
| Spermatogenic failure 45 | 6 | May 5, 2026 |
| Spermatogenic failure 46 | 6 | May 4, 2026 |
| Spermatogenic failure 47 | 2 | Apr 14, 2026 |
| Spermatogenic failure 48 | 3 | Apr 9, 2026 |
| Spermatogenic failure 51 | 2 | Apr 9, 2026 |
| Spermatogenic failure 52 | 2 | May 5, 2026 |
| Spermatogenic failure 54 | 1 | Apr 9, 2026 |
| Spermatogenic failure 56 | 4 | May 5, 2026 |
| Spermatogenic failure 57 | 1 | May 4, 2026 |
| Spermatogenic failure 61 | 1 | May 4, 2026 |
| Spermatogenic failure 62 | 1 | Apr 14, 2026 |
| Spermatogenic failure 65 | 8 | Apr 24, 2026 |
| Spermatogenic failure 67 | 1 | May 4, 2026 |
| Spermatogenic failure 70 | 1 | Apr 9, 2026 |
| Spermatogenic failure 73 | 2 | May 5, 2026 |
| Spermatogenic failure 74 | 3 | May 5, 2026 |
| Spermatogenic failure 76 | 1 | Apr 14, 2026 |
| Spermatogenic failure 78 | 5 | Apr 24, 2026 |
| Spermatogenic failure 81 | 1 | Apr 24, 2026 |
| Spermatogenic failure 82 | 2 | May 4, 2026 |
| Spermatogenic failure 83 | 1 | Apr 14, 2026 |
| Spermatogenic failure 84 | 3 | May 4, 2026 |
| Spermatogenic failure 86 | 1 | Apr 14, 2026 |
| Spermatogenic failure 88 | 2 | May 5, 2026 |
| Spermatogenic failure 89 | 3 | May 5, 2026 |
| Spermatogenic failure 94 | 3 | May 5, 2026 |
| Spermatogenic failure 95 | 2 | Apr 14, 2026 |
| Spermatogenic failure 96 | 1 | May 5, 2026 |
| Spermatogenic failure 97 | 1 | Apr 14, 2026 |
| Spermatogenic failure 98 | 2 | May 5, 2026 |
| Spermatogenic failure 99 | 1 | May 5, 2026 |
| Spinocerebellar ataxia, autosomal recessive 22 | 9 | May 5, 2026 |
| Spinocerebellar ataxia, autosomal recessive 24 | 2 | Apr 14, 2026 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 | May 4, 2026 |
| Spinocerebellar ataxia, autosomal recessive 28 | 1 | Apr 14, 2026 |
| Spinocerebellar ataxia, autosomal recessive 29 | 2 | May 5, 2026 |
| Spinocerebellar ataxia, autosomal recessive 30 | 1 | May 4, 2026 |
| Spinocerebellar ataxia, autosomal recessive 32 | 1 | May 4, 2026 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 | Apr 9, 2026 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 | May 5, 2026 |
| Split hand-foot malformation 6 | 1 | Apr 9, 2026 |
| Sponastrime dysplasia | 1 | Apr 9, 2026 |
| Spondylocostal dysostosis 1, autosomal recessive | 3 | May 4, 2026 |
| Spondylocostal dysostosis 3, autosomal recessive | 1 | Apr 9, 2026 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 | Apr 14, 2026 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 | Apr 14, 2026 |
| Spondyloepimetaphyseal dysplasia, Guo-Campeau type | 1 | May 5, 2026 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 1 | May 5, 2026 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 1 | Apr 24, 2026 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 | Apr 24, 2026 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 1 | Apr 9, 2026 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2 | May 4, 2026 |
| Spongy degeneration of central nervous system | 2 | May 5, 2026 |
| Stargardt disease 5 | 1 | May 5, 2026 |
| Steel syndrome | 2 | Apr 9, 2026 |
| Stickler syndrome, type 4 | 1 | Apr 9, 2026 |
| Stickler syndrome, type 5 | 1 | May 5, 2026 |
| Stromme syndrome | 2 | May 5, 2026 |
| Structural heart defects and renal anomalies syndrome | 3 | May 5, 2026 |
| Sucrase-isomaltase deficiency | 5 | May 4, 2026 |
| Sulfite oxidase deficiency | 1 | May 5, 2026 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 | May 5, 2026 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Apr 24, 2026 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | May 4, 2026 |
| Systemic lupus erythematosus | 1 | May 5, 2026 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 | May 4, 2026 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Apr 14, 2026 |
| TH-deficient dopa-responsive dystonia | 3 | May 4, 2026 |
| TMEM165-congenital disorder of glycosylation | 1 | Apr 9, 2026 |
| Tangier disease | 2 | May 4, 2026 |
| Tay-Sachs disease | 1 | May 4, 2026 |
| Tay-Sachs disease, variant AB | 1 | May 4, 2026 |
| Temtamy syndrome | 1 | Apr 24, 2026 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Apr 24, 2026 |
| Thanatophoric dysplasia type 1 | 1 | May 4, 2026 |
| Thrombocytopenia 12 with or without myopathy | 2 | Oct 6, 2025 |
| Thrombophilia due to activated protein C resistance | 1 | May 5, 2026 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Apr 9, 2026 |
| Thrombophilia due to thrombin defect | 1 | Apr 9, 2026 |
| Thyroglobulin synthesis defect | 1 | May 5, 2026 |
| Thyroid dyshormonogenesis 1 | 1 | Apr 9, 2026 |
| Thyroid dyshormonogenesis 6 | 7 | May 5, 2026 |
| Thyroid hormone metabolism, abnormal 1 | 1 | May 4, 2026 |
| Tooth agenesis, selective, 10 | 3 | May 4, 2026 |
| Tooth agenesis, selective, 4 | 1 | Apr 14, 2026 |
| Transient bullous dermolysis of the newborn | 6 | Apr 24, 2026 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 1 | May 5, 2026 |
| Trichohepatoenteric syndrome 1 | 3 | Apr 24, 2026 |
| Trichomegaly | 2 | May 4, 2026 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 3 | May 4, 2026 |
| Trichothiodystrophy 1, photosensitive | 3 | May 5, 2026 |
| Trichothiodystrophy 2, photosensitive | 1 | Apr 14, 2026 |
| Trichothiodystrophy 7, nonphotosensitive | 1 | Apr 2, 2025 |
| Trichothiodystrophy 9, nonphotosensitive | 1 | Apr 9, 2026 |
| Trimethylaminuria | 4 | May 4, 2026 |
| Triokinase and FMN cyclase deficiency syndrome | 1 | Apr 9, 2026 |
| Tyrosinase-positive oculocutaneous albinism | 6 | May 4, 2026 |
| Tyrosinemia type I | 1 | Apr 24, 2026 |
| UV-sensitive syndrome 3 | 6 | May 5, 2026 |
| Ullrich congenital muscular dystrophy 1A | 1 | May 4, 2026 |
| Ullrich congenital muscular dystrophy 1B | 1 | Apr 9, 2026 |
| Ullrich congenital muscular dystrophy 1C | 1 | Apr 9, 2026 |
| Upshaw-Schulman syndrome | 1 | Apr 24, 2026 |
| Urocanate hydratase deficiency | 1 | May 5, 2026 |
| Urofacial syndrome 2 | 3 | Apr 14, 2026 |
| Urofacial syndrome type 1 | 2 | May 4, 2026 |
| Usher syndrome type 1 | 5 | May 5, 2026 |
| Usher syndrome type 1D | 2 | Apr 24, 2026 |
| Usher syndrome type 1F | 9 | May 5, 2026 |
| Usher syndrome type 2A | 11 | May 5, 2026 |
| Usher syndrome type 2C | 4 | May 5, 2026 |
| Usher syndrome type 2D | 1 | May 4, 2026 |
| Usher syndrome type 3A | 1 | Apr 14, 2026 |
| Usher syndrome, type 1M | 2 | May 4, 2026 |
| VPS13A-related neurodegenerative disease | 2 | Apr 24, 2026 |
| Van den Ende-Gupta syndrome | 1 | Apr 9, 2026 |
| Variegate porphyria, childhood-onset | 1 | Apr 9, 2026 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 2 | Apr 24, 2026 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 2 | May 4, 2026 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 2 | Apr 9, 2026 |
| Very long chain acyl-CoA dehydrogenase deficiency | 6 | May 5, 2026 |
| Visceral neuropathy, familial, 1, autosomal recessive | 1 | Apr 9, 2026 |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 2 | May 4, 2026 |
| Vitelliform macular dystrophy 4 | 2 | May 5, 2026 |
| Waardenburg syndrome 2F | 1 | Apr 9, 2026 |
| Waardenburg syndrome type 4B | 2 | May 4, 2026 |
| Warburg micro syndrome 1 | 4 | May 5, 2026 |
| Warsaw breakage syndrome | 2 | Apr 24, 2026 |
| Webb-Dattani syndrome | 1 | May 4, 2026 |
| Weill-Marchesani 4 syndrome, recessive | 2 | May 4, 2026 |
| Werner syndrome | 1 | May 4, 2026 |
| Wilson disease | 11 | May 5, 2026 |
| Wolcott-Rallison dysplasia | 1 | Apr 24, 2026 |
| Wolfram syndrome 1 | 3 | Apr 9, 2026 |
| Wrinkly skin syndrome | 1 | May 4, 2026 |
| X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | 1 | May 4, 2026 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Apr 24, 2026 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Apr 14, 2026 |
| XFE progeroid syndrome | 1 | Apr 9, 2026 |
| Xanthinuria type II | 3 | May 4, 2026 |
| Xeroderma pigmentosum group A | 2 | Apr 24, 2026 |
| Xeroderma pigmentosum group B | 1 | Apr 14, 2026 |
| Xeroderma pigmentosum variant type | 1 | Apr 24, 2026 |
| Xeroderma pigmentosum, group D | 3 | May 5, 2026 |
| Xeroderma pigmentosum, group F | 1 | Apr 9, 2026 |
| Yunis-Varon syndrome | 1 | Apr 14, 2026 |
| Ziegler-Huang syndrome | 1 | Apr 9, 2026 |
| von Willebrand disease type 2 | 7 | May 4, 2026 |
| von Willebrand disease type 3 | 7 | May 4, 2026 |
