| 3MC syndrome 1 | 4 | Dec 29, 2020 |
| 3MC syndrome 2 | 1 | Dec 29, 2020 |
| Acromesomelic dysplasia, Maroteaux type | 1 | Dec 12, 2018 |
| Acromicric dysplasia | 21 | Dec 29, 2020 |
| Acute lymphoid leukemia | 2 | Dec 29, 2020 |
| Acute myeloid leukemia | 4 | Dec 12, 2018 |
| Adams-Oliver syndrome 5 | 7 | Dec 29, 2020 |
| Adenylosuccinate lyase deficiency | 3 | Dec 12, 2018 |
| Adult neuronal ceroid lipofuscinosis | 1 | Dec 12, 2018 |
| Afibrinogenemia | 1 | Dec 12, 2018 |
| Agammaglobulinemia 3, autosomal recessive | 1 | Dec 29, 2020 |
| Agammaglobulinemia 6, autosomal recessive | 1 | Dec 12, 2018 |
| Agammaglobulinemia 7, autosomal recessive | 1 | Dec 12, 2018 |
| Agammaglobulinemia 8, autosomal dominant | 3 | Mar 6, 2020 |
| Age-related macular degeneration 12 | 1 | Dec 29, 2020 |
| Age-related macular degeneration 13 | 1 | Dec 12, 2018 |
| Age-related macular degeneration 14 | 3 | Dec 29, 2020 |
| Age-related macular degeneration 4 | 2 | Dec 12, 2018 |
| Age-related macular degeneration 9 | 2 | Dec 29, 2020 |
| Aicardi Goutieres syndrome 2 | 1 | Dec 29, 2020 |
| Aicardi-Goutieres syndrome 6 | 2 | Dec 29, 2020 |
| Aicardi-Goutieres syndrome 7 | 12 | Dec 29, 2020 |
| Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | 3 | Dec 12, 2018 |
| Alternating hemiplegia of childhood 2 | 2 | Dec 12, 2018 |
| Amelocerebrohypohidrotic syndrome | 2 | Dec 12, 2018 |
| Angelman syndrome | 1 | Dec 12, 2018 |
| Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | 1 | Dec 12, 2018 |
| Aortic aneurysm, familial thoracic 10 | 1 | Dec 29, 2020 |
| Aortic aneurysm, familial thoracic 4 | 8 | Dec 29, 2020 |
| Aortic aneurysm, familial thoracic 7 | 8 | Dec 12, 2018 |
| Aortic valve disease 1 | 7 | Dec 29, 2020 |
| Aplastic anemia | 6 | Dec 29, 2020 |
| Arginine:glycine amidinotransferase deficiency | 1 | Dec 12, 2018 |
| Arrhythmogenic right ventricular dysplasia, familial 1 | 1 | Dec 29, 2020 |
| Arterial tortuosity syndrome | 2 | Dec 29, 2020 |
| Asplenia, isolated congenital | 1 | Dec 12, 2018 |
| Asthma, nasal polyps, and aspirin intolerance | 5 | Dec 29, 2020 |
| Ataxia-oculomotor apraxia 4 | 1 | Dec 12, 2018 |
| Ataxia-telangiectasia syndrome | 9 | Dec 29, 2020 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Dec 12, 2018 |
| Atypical hemolytic-uremic syndrome 1 | 2 | Dec 12, 2018 |
| Atypical hemolytic-uremic syndrome 3 | 1 | Dec 12, 2018 |
| Atypical hemolytic-uremic syndrome 4 | 1 | Dec 29, 2020 |
| Atypical hemolytic-uremic syndrome 5 | 2 | Dec 29, 2020 |
| Atypical hemolytic-uremic syndrome 6 | 1 | Dec 12, 2018 |
| Atypical mycobacteriosis, familial, X-linked 2 | 1 | Dec 12, 2018 |
| Autism 15 | 5 | Dec 12, 2018 |
| Autism, susceptibility to, X-linked 3 | 2 | Dec 12, 2018 |
| Autoimmune disease, multisystem, infantile-onset, 1 | 1 | Dec 12, 2018 |
| Autoimmune disease, multisystem, infantile-onset, 2 | 1 | Dec 12, 2018 |
| Autoimmune lymphoproliferative syndrome type 1 | 5 | Dec 29, 2020 |
| Autoimmune lymphoproliferative syndrome type 2B | 1 | Dec 12, 2018 |
| Autoimmune lymphoproliferative syndrome type V | 1 | Dec 12, 2018 |
| Autoimmune lymphoproliferative syndrome, type 2A | 1 | Dec 12, 2018 |
| Autoimmune lymphoproliferative syndrome, type III | 1 | Dec 12, 2018 |
| Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | 5 | Dec 29, 2020 |
| Autosomal dominant osteopetrosis 2 | 1 | Dec 12, 2018 |
| Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 13 | Mar 6, 2020 |
| Autosomal recessive cutis laxa type 1B | 2 | Dec 29, 2020 |
| Autosomal recessive osteopetrosis 4 | 1 | Dec 12, 2018 |
| B-cell expansion with NFKB and T-cell anergy | 2 | Dec 12, 2018 |
| Bare lymphocyte syndrome 2 | 9 | Dec 29, 2020 |
| Bare lymphocyte syndrome type 1 | 8 | Dec 29, 2020 |
| Basal laminar drusen | 2 | Dec 12, 2018 |
| Benign familial neonatal seizures 1 | 3 | Dec 12, 2018 |
| Benign familial neonatal seizures 2 | 1 | Dec 12, 2018 |
| Birbeck granule deficiency | 1 | Dec 12, 2018 |
| Blau syndrome | 6 | Dec 29, 2020 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 4 | Dec 12, 2018 |
| Bloom syndrome | 4 | Dec 12, 2018 |
| Breast-ovarian cancer, familial 2 | 1 | Dec 12, 2018 |
| Brittle cornea syndrome 1 | 3 | Mar 6, 2020 |
| C1q deficiency | 2 | Dec 12, 2018 |
| CHARGE association | 7 | Mar 6, 2020 |
| Café-au-lait macules with pulmonary stenosis | 4 | Mar 6, 2020 |
| Candidiasis, familial, 2 | 4 | Dec 29, 2020 |
| Candidiasis, familial, 8 | 1 | Dec 12, 2018 |
| Carcinoma of pancreas | 1 | Dec 12, 2018 |
| Cardiac valvular dysplasia, X-linked | 5 | Dec 12, 2018 |
| Cardiofaciocutaneous syndrome 1 | 1 | Mar 6, 2020 |
| Cardiofaciocutaneous syndrome 2 | 2 | Dec 12, 2018 |
| Cardiofaciocutaneous syndrome 3 | 1 | Dec 12, 2018 |
| Cd8 deficiency, familial | 3 | Dec 29, 2020 |
| Celiac disease 3 | 1 | Dec 12, 2018 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Dec 12, 2018 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Dec 12, 2018 |
| Ceroid lipofuscinosis neuronal 2 | 3 | Dec 29, 2020 |
| Ceroid lipofuscinosis, neuronal, 6A | 1 | Dec 12, 2018 |
| Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 2 | Dec 12, 2018 |
| Charcot-Marie-Tooth disease, axonal, type 2O | 10 | Dec 12, 2018 |
| Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 3 | Dec 29, 2020 |
| Chronic granulomatous disease, X-linked | 1 | Dec 12, 2018 |
| Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 | 1 | Dec 12, 2018 |
| Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 1 | Dec 29, 2020 |
| Chronic infantile neurological, cutaneous and articular syndrome | 6 | Dec 29, 2020 |
| Chédiak-Higashi syndrome | 10 | Dec 29, 2020 |
| Ciliary dyskinesia, primary, 7 | 2 | Mar 3, 2020 |
| Classic homocystinuria | 2 | Dec 12, 2018 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Dec 12, 2018 |
| Cohen syndrome | 18 | Dec 29, 2020 |
| Combined cellular and humoral immune defects with granulomas | 4 | Dec 12, 2018 |
| Combined immunodeficiency due to ORAI1 deficiency | 1 | Dec 29, 2020 |
| Combined immunodeficiency due to STIM1 deficiency | 5 | Dec 29, 2020 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | Dec 12, 2018 |
| Combined immunodeficiency, X-linked | 1 | Dec 29, 2020 |
| Common variable immunodeficiency 10 | 1 | Dec 12, 2018 |
| Common variable immunodeficiency 2 | 1 | Dec 12, 2018 |
| Common variable immunodeficiency 3 | 1 | Mar 6, 2020 |
| Common variable immunodeficiency 5 | 1 | Dec 12, 2018 |
| Common variable immunodeficiency 6 | 2 | Dec 29, 2020 |
| Common variable immunodeficiency 7 | 5 | Dec 29, 2020 |
| Common variable immunodeficiency 8, with autoimmunity | 6 | Dec 29, 2020 |
| Complement component 2 deficiency | 2 | Dec 29, 2020 |
| Complement component 3 deficiency, autosomal recessive | 2 | Dec 29, 2020 |
| Complement component 4, partial deficiency of | 1 | Dec 12, 2018 |
| Complement component 5 deficiency | 1 | Dec 12, 2018 |
| Complement component 6 deficiency | 1 | Dec 12, 2018 |
| Complement component 9 deficiency | 1 | Dec 29, 2020 |
| Complement component c1s deficiency | 4 | Dec 29, 2020 |
| Complement factor B deficiency | 1 | Dec 29, 2020 |
| Complement factor d deficiency | 1 | Dec 12, 2018 |
| Congenital contractural arachnodactyly | 11 | Dec 29, 2020 |
| Congenital disorder of glycosylation type 2B | 3 | Dec 12, 2018 |
| Conotruncal heart malformations | 2 | Dec 29, 2020 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Mar 6, 2020 |
| Coronary heart disease 1 | 1 | Dec 29, 2020 |
| Cutaneous malignant melanoma 9 | 2 | Dec 12, 2018 |
| Cyclical neutropenia | 1 | Dec 29, 2020 |
| DOORS syndrome | 1 | Dec 12, 2018 |
| Deafness, autosomal dominant 3a | 2 | Mar 6, 2020 |
| Deafness, autosomal dominant 65 | 1 | Dec 12, 2018 |
| Deafness, autosomal recessive 1A | 2 | Mar 6, 2020 |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 1 | Dec 12, 2018 |
| Deafness, autosomal recessive 86 | 1 | Dec 12, 2018 |
| Deficiency of guanidinoacetate methyltransferase | 3 | Dec 12, 2018 |
| Developmental and epileptic encephalopathy 94 | 4 | Dec 12, 2018 |
| DiGeorge Syndrome | 2 | Dec 29, 2020 |
| Diabetes mellitus type 1 | 1 | Dec 29, 2020 |
| Diabetes mellitus, insulin-dependent, 10 | 1 | Dec 12, 2018 |
| Diabetes mellitus, insulin-dependent, 12 | 1 | Dec 12, 2018 |
| Diabetes mellitus, insulin-dependent, 22 | 1 | Dec 29, 2020 |
| Diamond-Blackfan anemia 12 | 1 | Dec 12, 2018 |
| Dyskeratosis congenita, autosomal dominant, 2 | 3 | Mar 6, 2020 |
| Dyskeratosis congenita, autosomal dominant, 3 | 1 | Dec 29, 2020 |
| Dyskeratosis congenita, autosomal recessive, 3 | 2 | Dec 12, 2018 |
| Dyskeratosis congenita, autosomal recessive, 5 | 6 | Dec 29, 2020 |
| Dystonia 12 | 2 | Dec 12, 2018 |
| Dystonia 9 | 4 | Dec 12, 2018 |
| EAST syndrome | 1 | Dec 12, 2018 |
| EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 | 10 | Dec 29, 2020 |
| Early infantile epileptic encephalopathy 10 | 1 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 11 | 5 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 12 | 1 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 13 | 1 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 14 | 3 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 15 | 1 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 16 | 1 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 2 | 1 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 5 | 3 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 7 | 3 | Dec 12, 2018 |
| Early infantile epileptic encephalopathy 9 | 3 | Dec 12, 2018 |
| Ectodermal dysplasia and immunodeficiency 1 | 1 | Dec 12, 2018 |
| Ectopia lentis 2, isolated, autosomal recessive | 9 | Dec 29, 2020 |
| Ectopia lentis et pupillae | 9 | Dec 29, 2020 |
| Ectopia lentis, isolated, autosomal dominant | 21 | Dec 29, 2020 |
| Ehlers-Danlos syndrome dermatosparaxis type | 3 | Dec 12, 2018 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 10 | Dec 29, 2020 |
| Ehlers-Danlos syndrome progeroid type | 1 | Dec 12, 2018 |
| Ehlers-Danlos syndrome, classic type | 21 | Dec 29, 2020 |
| Ehlers-Danlos syndrome, hydroxylysine-deficient | 3 | Dec 29, 2020 |
| Ehlers-Danlos syndrome, periodontal type, 1 | 2 | Dec 29, 2020 |
| Ehlers-Danlos syndrome, periodontal type, 2 | 4 | Dec 29, 2020 |
| Ehlers-Danlos syndrome, type 4 | 6 | Dec 29, 2020 |
| Epilepsy, childhood absence 2 | 2 | Dec 12, 2018 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Dec 12, 2018 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 | Dec 12, 2018 |
| Epilepsy, juvenile absence, susceptibility to, 1 | 1 | Dec 12, 2018 |
| Epilepsy, juvenile myoclonic 5 | 1 | Dec 12, 2018 |
| Epilepsy, nocturnal frontal lobe, 5 | 3 | Dec 12, 2018 |
| Epilepsy, nocturnal frontal lobe, type 1 | 5 | Dec 12, 2018 |
| Epilepsy, nocturnal frontal lobe, type 4 | 2 | Dec 12, 2018 |
| Epilepsy, progressive myoclonic 4, with or without renal failure | 4 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 19 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 24 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 26 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 27 | 3 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 28 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 31 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 33 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 36 | 1 | Dec 12, 2018 |
| Epileptic encephalopathy, early infantile, 54 | 3 | Dec 12, 2018 |
| Epiphyseal chondrodysplasia, miura type | 1 | Dec 12, 2018 |
| Episodic kinesigenic dyskinesia 1 | 2 | Dec 12, 2018 |
| FG syndrome 2 | 5 | Dec 12, 2018 |
| Facial dysmorphism, immunodeficiency, livedo, and short stature | 3 | Dec 12, 2018 |
| Factor H deficiency | 2 | Dec 12, 2018 |
| Familial Mediterranean fever | 16 | Dec 29, 2020 |
| Familial amyloid nephropathy with urticaria AND deafness | 6 | Dec 29, 2020 |
| Familial cancer of breast | 11 | Dec 29, 2020 |
| Familial chronic mucocutaneous candidiasis | 1 | Dec 12, 2018 |
| Familial cold autoinflammatory syndrome 1 | 6 | Dec 29, 2020 |
| Familial cold autoinflammatory syndrome 2 | 3 | Dec 29, 2020 |
| Familial cold autoinflammatory syndrome 3 | 5 | Dec 29, 2020 |
| Familial febrile seizures 8 | 2 | Dec 12, 2018 |
| Familial hemiplegic migraine type 3 | 5 | Dec 12, 2018 |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 | Dec 29, 2020 |
| Familial hemophagocytic lymphohistiocytosis 3 | 4 | Dec 29, 2020 |
| Familial mediterranean fever, autosomal dominant | 16 | Dec 29, 2020 |
| Fanconi anemia, complementation group A | 2 | Dec 12, 2018 |
| Fanconi anemia, complementation group D1 | 1 | Dec 12, 2018 |
| Fanconi anemia, complementation group D2 | 2 | Mar 6, 2020 |
| Fanconi anemia, complementation group F | 1 | Dec 29, 2020 |
| Fanconi anemia, complementation group I | 2 | Dec 12, 2018 |
| Fanconi anemia, complementation group L | 2 | Dec 12, 2018 |
| Fanconi anemia, complementation group P | 4 | Mar 6, 2020 |
| Fanconi anemia, complementation group Q | 1 | Dec 12, 2018 |
| Fibrous dysplasia of jaw | 4 | Dec 12, 2018 |
| Focal cortical dysplasia type II | 21 | Mar 6, 2020 |
| Frontometaphyseal dysplasia 1 | 5 | Dec 12, 2018 |
| GLUT1 deficiency syndrome 1 | 4 | Dec 12, 2018 |
| GLUT1 deficiency syndrome 2 | 4 | Dec 12, 2018 |
| Geleophysic dysplasia 2 | 21 | Dec 29, 2020 |
| Generalized epilepsy with febrile seizures plus, type 2 | 5 | Dec 12, 2018 |
| Generalized epilepsy with febrile seizures plus, type 7 | 3 | Dec 12, 2018 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Dec 12, 2018 |
| Genitopatellar syndrome | 4 | Dec 12, 2018 |
| Ghosal hematodiaphyseal dysplasia | 2 | Dec 12, 2018 |
| Gingival fibromatosis 1 | 2 | Dec 29, 2020 |
| Glaucoma 3, primary congenital, d | 3 | Mar 6, 2020 |
| Glioma susceptibility 3 | 1 | Dec 12, 2018 |
| Glucose-6-phosphate transport defect | 2 | Mar 6, 2020 |
| Glycogen storage disease type IXa1 | 1 | Dec 12, 2018 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2 | Mar 6, 2020 |
| Griscelli syndrome type 2 | 1 | Mar 6, 2020 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Dec 29, 2020 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 3 | Dec 29, 2020 |
| Hashimoto thyroiditis | 1 | Dec 12, 2018 |
| Helicobacter pylori infection, susceptibility to | 1 | Dec 29, 2020 |
| Hemophagocytic lymphohistiocytosis, familial, 5 | 1 | Dec 12, 2018 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | Dec 12, 2018 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 4 | Jan 4, 2021 |
| Hepatitis b virus, susceptibility to | 1 | Dec 29, 2020 |
| Hereditary angioedema type 1 | 1 | Dec 12, 2018 |
| Hereditary nonpolyposis colorectal cancer type 6 | 3 | Dec 12, 2018 |
| Hermansky-Pudlak syndrome 2 | 5 | Dec 29, 2020 |
| Herpes simplex encephalitis, susceptibility to, 4 | 1 | Dec 29, 2020 |
| Histiocytic medullary reticulosis | 7 | Jan 4, 2021 |
| Histiocytosis-lymphadenopathy plus syndrome | 1 | Dec 29, 2020 |
| Human immunodeficiency virus type 1, susceptibility to | 4 | Dec 29, 2020 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Dec 12, 2018 |
| Hyper-IgM syndrome type 3 | 1 | Dec 12, 2018 |
| Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 5 | Dec 29, 2020 |
| Hyperphosphatasia with mental retardation syndrome 1 | 2 | Dec 12, 2018 |
| Hyperphosphatasia with mental retardation syndrome 2 | 3 | Dec 12, 2018 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 7 | Mar 6, 2020 |
| Hypomyelination, global cerebral | 1 | Dec 12, 2018 |
| Hystrix-like ichthyosis with deafness | 2 | Mar 6, 2020 |
| IL21R immunodeficiency | 2 | Dec 29, 2020 |
| Ige responsiveness, atopic | 4 | Dec 29, 2020 |
| Immunodeficiency 11 | 2 | Dec 12, 2018 |
| Immunodeficiency 11b with atopic dermatitis | 2 | Dec 12, 2018 |
| Immunodeficiency 12 | 1 | Dec 29, 2020 |
| Immunodeficiency 13 | 1 | Dec 12, 2018 |
| Immunodeficiency 14 | 1 | Dec 29, 2020 |
| Immunodeficiency 18 | 1 | Mar 6, 2020 |
| Immunodeficiency 20 | 2 | Dec 12, 2018 |
| Immunodeficiency 22 | 1 | Dec 29, 2020 |
| Immunodeficiency 23 | 5 | Dec 12, 2018 |
| Immunodeficiency 26 with or without neurologic abnormalities | 4 | Dec 29, 2020 |
| Immunodeficiency 27A | 3 | Dec 29, 2020 |
| Immunodeficiency 27b | 3 | Dec 29, 2020 |
| Immunodeficiency 28 | 1 | Dec 29, 2020 |
| Immunodeficiency 29 | 2 | Dec 29, 2020 |
| Immunodeficiency 31C | 2 | Dec 12, 2018 |
| Immunodeficiency 31a | 2 | Dec 12, 2018 |
| Immunodeficiency 32a | 1 | Dec 29, 2020 |
| Immunodeficiency 32b | 1 | Dec 29, 2020 |
| Immunodeficiency 33 | 1 | Dec 12, 2018 |
| Immunodeficiency 35 | 3 | Dec 29, 2020 |
| Immunodeficiency 36 | 1 | Dec 12, 2018 |
| Immunodeficiency 38 with basal ganglia calcification | 1 | Mar 6, 2020 |
| Immunodeficiency 44 | 1 | Dec 12, 2018 |
| Immunodeficiency 51 | 4 | Dec 29, 2020 |
| Immunodeficiency 8 | 1 | Mar 6, 2020 |
| Immunodeficiency due to defect in cd3-zeta | 2 | Dec 29, 2020 |
| Immunodeficiency due to defect in mapbp-interacting protein | 1 | Dec 29, 2020 |
| Immunodeficiency without anhidrotic ectodermal dysplasia | 1 | Dec 12, 2018 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 2 | Dec 29, 2020 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 29, 2020 |
| Immunoglobulin A deficiency 2 | 1 | Dec 12, 2018 |
| Incontinentia pigmenti syndrome | 1 | Dec 12, 2018 |
| Indifference to pain, congenital, autosomal recessive | 3 | Dec 12, 2018 |
| Infantile convulsions and choreoathetosis | 2 | Dec 12, 2018 |
| Inflammatory bowel disease 1 | 5 | Dec 29, 2020 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 2 | Dec 29, 2020 |
| Intellectual developmental disorder with persistence of fetal hemoglobin | 2 | Jan 4, 2021 |
| Interleukin 2 receptor, alpha, deficiency of | 1 | Dec 12, 2018 |
| Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 5 | Dec 12, 2018 |
| Juvenile myelomonocytic leukemia | 3 | Dec 12, 2018 |
| Juvenile myoclonic epilepsy | 1 | Dec 12, 2018 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Dec 12, 2018 |
| Kabuki syndrome 1 | 12 | Dec 29, 2020 |
| Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 2 | Mar 6, 2020 |
| Knuckle pads, deafness AND leukonychia syndrome | 2 | Mar 6, 2020 |
| Koolen-de Vries syndrome | 3 | Dec 12, 2018 |
| Kostmann syndrome | 1 | Dec 29, 2020 |
| Kufor-Rakeb syndrome | 7 | Dec 12, 2018 |
| LEOPARD syndrome 1 | 7 | Mar 6, 2020 |
| LEOPARD syndrome 2 | 1 | Sep 22, 2017 |
| LEOPARD syndrome 3 | 1 | Mar 6, 2020 |
| Lafora disease | 2 | Dec 12, 2018 |
| Leprosy 3 | 1 | Dec 29, 2020 |
| Leukocyte adhesion deficiency 1 | 2 | Dec 12, 2018 |
| Leukocyte adhesion deficiency type II | 1 | Dec 12, 2018 |
| Leukocyte adhesion deficiency, type III | 3 | Dec 12, 2018 |
| Lig4 syndrome | 4 | Dec 29, 2020 |
| Linear sebaceous nevus sequence | 1 | Dec 12, 2018 |
| Loeys-Dietz syndrome 2 | 4 | Dec 12, 2018 |
| Loeys-Dietz syndrome 3 | 2 | Mar 6, 2020 |
| Loeys-Dietz syndrome 5 | 2 | Dec 29, 2020 |
| Long QT syndrome 2 | 4 | Dec 12, 2018 |
| Lung cancer | 1 | Dec 29, 2020 |
| Lymphangiomyomatosis | 21 | Mar 6, 2020 |
| Lymphoma, Non-Hodgkin, Familial | 2 | Dec 29, 2020 |
| Lymphoproliferative syndrome 1 | 1 | Dec 12, 2018 |
| Lysosomal acid lipase deficiency | 1 | Dec 12, 2018 |
| MASP2 deficiency | 4 | Dec 29, 2020 |
| MASS syndrome | 21 | Dec 29, 2020 |
| Macular degeneration, age-related, 15 | 1 | Dec 29, 2020 |
| Macular degeneration, early-onset | 9 | Dec 29, 2020 |
| Macular dystrophy with central cone involvement | 2 | Dec 12, 2018 |
| Majeed syndrome | 5 | Mar 6, 2020 |
| Malignant Colorectal Neoplasm | 1 | Dec 29, 2020 |
| Malignant tumor of esophagus | 1 | Dec 12, 2018 |
| Malignant tumor of prostate | 1 | Dec 12, 2018 |
| Marfan lipodystrophy syndrome | 21 | Dec 29, 2020 |
| Marfan syndrome | 27 | Dec 29, 2020 |
| Medulloblastoma | 1 | Dec 12, 2018 |
| Melnick-Needles syndrome | 5 | Dec 12, 2018 |
| Mental retardation 49, X-linked | 1 | Dec 12, 2018 |
| Mental retardation, X-linked 98 | 2 | Dec 12, 2018 |
| Mental retardation, X-linked, syndromic 13 | 2 | Dec 12, 2018 |
| Mental retardation, X-linked, syndromic, Hedera type | 1 | Dec 12, 2018 |
| Mental retardation, autosomal dominant 1 | 1 | Dec 12, 2018 |
| Mental retardation, autosomal dominant 13 | 10 | Dec 12, 2018 |
| Mental retardation, autosomal dominant 38 | 1 | Dec 12, 2018 |
| Mental retardation, autosomal dominant 41 | 1 | Dec 12, 2018 |
| Mental retardation, autosomal dominant 6 | 3 | Dec 12, 2018 |
| Mental retardation, autosomal dominant 7 | 1 | Dec 12, 2018 |
| Mental retardation, autosomal recessive 12 | 1 | Dec 12, 2018 |
| Metachondromatosis | 4 | Mar 6, 2020 |
| Microcephaly, normal intelligence and immunodeficiency | 2 | Dec 29, 2020 |
| Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | 2 | Dec 12, 2018 |
| Microspherophakia | 3 | Mar 6, 2020 |
| Mitochondrial DNA depletion syndrome 4B, MNGIE type | 13 | Mar 6, 2020 |
| Mowat-Wilson syndrome | 2 | Dec 12, 2018 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Dec 12, 2018 |
| Multiple gastrointestinal atresias | 5 | Dec 29, 2020 |
| Multiple myeloma | 1 | Dec 29, 2020 |
| Multiple sclerosis, susceptibility to, 5 | 1 | Dec 29, 2020 |
| Mutilating keratoderma | 2 | Mar 6, 2020 |
| Mycobacterial and viral infections, susceptibility to, autosomal recessive | 2 | Dec 12, 2018 |
| Mycobacterium tuberculosis, susceptibility to | 5 | Jan 4, 2021 |
| Myhre syndrome | 1 | Dec 12, 2018 |
| Myoclonic epilepsy, familial infantile | 1 | Dec 12, 2018 |
| Myoclonic-atonic epilepsy | 1 | Dec 12, 2018 |
| Myopathy, tubular aggregate, 1 | 5 | Dec 29, 2020 |
| Myopathy, tubular aggregate, 2 | 1 | Dec 29, 2020 |
| Natural killer cell and glucocorticoid deficiency with DNA repair defect | 3 | Dec 29, 2020 |
| Neoplasm of stomach | 1 | Dec 12, 2018 |
| Nephrotic syndrome type 15 | 2 | Dec 12, 2018 |
| Netherton syndrome | 4 | Mar 6, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Dec 12, 2018 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 2 | Dec 12, 2018 |
| Neurofibromatosis, familial spinal | 4 | Mar 6, 2020 |
| Neurofibromatosis, type 1 | 6 | Mar 6, 2020 |
| Neurofibromatosis-Noonan syndrome | 4 | Mar 6, 2020 |
| Neuronal ceroid lipofuscinosis 10 | 1 | Dec 12, 2018 |
| Neuronal ceroid lipofuscinosis 7 | 2 | Dec 12, 2018 |
| Neuronal ceroid lipofuscinosis 8 | 2 | Dec 12, 2018 |
| Neutropenia, severe congenital 1, autosomal dominant | 1 | Dec 29, 2020 |
| Neutropenia, severe congenital, 7, autosomal recessive | 2 | Dec 12, 2018 |
| Noonan syndrome 1 | 7 | Mar 6, 2020 |
| Noonan syndrome 3 | 2 | Dec 12, 2018 |
| Noonan syndrome 4 | 3 | Dec 29, 2020 |
| Noonan syndrome 5 | 1 | Sep 22, 2017 |
| Noonan syndrome 6 | 1 | Sep 22, 2017 |
| Noonan syndrome 7 | 1 | Mar 6, 2020 |
| Noonan syndrome 8 | 1 | Mar 6, 2020 |
| Okt4 epitope deficiency | 1 | Dec 12, 2018 |
| Osteomyelitis, sterile multifocal, with periostitis and pustulosis | 1 | Mar 6, 2020 |
| Oto-palato-digital syndrome, type I | 5 | Dec 12, 2018 |
| Oto-palato-digital syndrome, type II | 5 | Dec 12, 2018 |
| Palmoplantar keratoderma-deafness syndrome | 2 | Mar 6, 2020 |
| Pancreatic cancer 2 | 1 | Dec 12, 2018 |
| Pancreatic cancer 3 | 1 | Mar 6, 2020 |
| Parkinsonism with spasticity, X-linked | 1 | Dec 12, 2018 |
| Paroxysmal extreme pain disorder | 3 | Dec 12, 2018 |
| Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 1 | Dec 12, 2018 |
| Periventricular nodular heterotopia 1 | 5 | Dec 12, 2018 |
| Phosphate transport defect | 2 | Mar 6, 2020 |
| Pierpont syndrome | 1 | Dec 12, 2018 |
| Pitt-Hopkins syndrome | 1 | Mar 6, 2020 |
| Pitt-Hopkins-like syndrome 1 | 5 | Dec 12, 2018 |
| Pitt-Hopkins-like syndrome 2 | 4 | Dec 12, 2018 |
| Pityriasis rubra pilaris | 1 | Dec 29, 2020 |
| Poikiloderma with neutropenia | 1 | Dec 12, 2018 |
| Polyglucosan body myopathy 1 with or without immunodeficiency | 2 | Dec 29, 2020 |
| Primary erythromelalgia | 3 | Dec 12, 2018 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 13 | Mar 6, 2020 |
| Progressive myoclonus epilepsy with ataxia | 1 | Dec 12, 2018 |
| Progressive sclerosing poliodystrophy | 13 | Mar 6, 2020 |
| Psoriasis susceptibility 2 | 1 | Dec 29, 2020 |
| Psoriatic arthritis, susceptibility to | 3 | Dec 29, 2020 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | 3 | Mar 6, 2020 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 6 | Dec 29, 2020 |
| Purine-nucleoside phosphorylase deficiency | 1 | Dec 29, 2020 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 3 | Dec 29, 2020 |
| Pyridoxal phosphate-responsive seizures | 2 | Dec 12, 2018 |
| Pyridoxine-dependent epilepsy | 1 | Dec 12, 2018 |
| RAS-associated autoimmune leukoproliferative disorder | 1 | Dec 12, 2018 |
| Retinitis pigmentosa and erythrocytic microcytosis | 1 | Mar 6, 2020 |
| Rett syndrome | 2 | Dec 12, 2018 |
| Revesz syndrome | 1 | Dec 29, 2020 |
| Rheumatoid arthritis | 3 | Dec 29, 2020 |
| Riddle syndrome | 1 | Dec 29, 2020 |
| SHORT syndrome | 1 | Dec 12, 2018 |
| Schimke immuno-osseous dysplasia | 3 | Dec 29, 2020 |
| Schizophrenia 17 | 4 | Dec 12, 2018 |
| Seizures, benign familial infantile, 2 | 2 | Dec 12, 2018 |
| Seizures, benign familial infantile, 3 | 5 | Dec 12, 2018 |
| Seizures, benign familial infantile, 5 | 1 | Dec 12, 2018 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 13 | Mar 6, 2020 |
| Severe combined immunodeficiency due to ADA deficiency | 2 | Dec 12, 2018 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 3 | Jan 4, 2021 |
| Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | 1 | Dec 12, 2018 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 4 | Dec 12, 2018 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | 2 | Dec 29, 2020 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | 9 | Dec 29, 2020 |
| Severe congenital neutropenia 4, autosomal recessive | 2 | Dec 12, 2018 |
| Severe congenital neutropenia 5, autosomal recessive | 1 | Dec 12, 2018 |
| Severe myoclonic epilepsy in infancy | 8 | Dec 12, 2018 |
| Severe neonatal-onset encephalopathy with microcephaly | 2 | Dec 12, 2018 |
| Short QT syndrome 1 | 4 | Dec 12, 2018 |
| Short stature with nonspecific skeletal abnormalities | 1 | Dec 12, 2018 |
| Shprintzen-Goldberg syndrome | 4 | Dec 12, 2018 |
| Shwachman-Diamond syndrome 1 | 2 | Dec 12, 2018 |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 1 | Mar 6, 2020 |
| Singleton-Merten syndrome 1 | 12 | Dec 29, 2020 |
| Spastic paraplegia 78, autosomal recessive | 7 | Dec 12, 2018 |
| Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 10 | Dec 12, 2018 |
| Spinocerebellar ataxia, autosomal recessive 12 | 1 | Dec 12, 2018 |
| Spondyloenchondrodysplasia with immune dysregulation | 1 | Dec 12, 2018 |
| Stiff skin syndrome | 21 | Dec 29, 2020 |
| Stomatin-deficient cryohydrocytosis with neurologic defects | 4 | Dec 12, 2018 |
| Stormorken syndrome | 5 | Dec 29, 2020 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Mar 6, 2020 |
| Susceptibility to malaria | 1 | Mar 6, 2020 |
| Symmetrical dyschromatosis of extremities | 2 | Dec 29, 2020 |
| Syndromic X-linked intellectual disability Lubs type | 2 | Dec 12, 2018 |
| Systemic lupus erythematosus | 1 | Dec 12, 2018 |
| Systemic lupus erythematosus 6 | 1 | Dec 29, 2020 |
| Systemic lupus erythematosus 9 | 4 | Dec 29, 2020 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 2 | Dec 12, 2018 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 2 | Dec 29, 2020 |
| Tay-Sachs disease | 1 | Dec 12, 2018 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Dec 12, 2018 |
| Terminal osseous dysplasia | 5 | Dec 12, 2018 |
| Tetralogy of Fallot | 2 | Dec 29, 2020 |
| Thrombocytopenia 1 | 1 | Dec 12, 2018 |
| Thrombophilia due to thrombomodulin defect | 1 | Dec 12, 2018 |
| Thromboxane synthetase deficiency | 2 | Dec 12, 2018 |
| Transcolabamin II deficiency | 5 | Mar 6, 2020 |
| Trichohepatoenteric syndrome 1 | 5 | Mar 6, 2020 |
| Tuberous sclerosis 1 | 2 | Mar 6, 2020 |
| Tuberous sclerosis 2 | 19 | Mar 6, 2020 |
| Type I complement component 8 deficiency | 1 | Dec 12, 2018 |
| Type II complement component 8 deficiency | 2 | Mar 6, 2020 |
| Velocardiofacial syndrome | 2 | Dec 29, 2020 |
| Vesicoureteral reflux 8 | 10 | Dec 29, 2020 |
| Vici syndrome | 9 | Dec 29, 2020 |
| Warts, hypogammaglobulinemia, infections, and myelokathexis | 1 | Dec 12, 2018 |
| Weill-Marchesani syndrome 1 | 3 | Dec 12, 2018 |
| Weill-Marchesani syndrome 2 | 21 | Dec 29, 2020 |
| Weill-Marchesani syndrome 3 | 9 | Mar 6, 2020 |
| Weill-Marchesani syndrome 4 | 6 | Dec 29, 2020 |
| West nile virus, susceptibility to | 1 | Dec 29, 2020 |
| Wilms tumor 1 | 1 | Dec 12, 2018 |
| Wiskott-Aldrich syndrome | 1 | Dec 12, 2018 |
| X-linked agammaglobulinemia | 1 | Dec 12, 2018 |
| X-linked agammaglobulinemia with growth hormone deficiency | 1 | Dec 12, 2018 |
| X-linked severe combined immunodeficiency | 1 | Dec 29, 2020 |
| X-linked severe congenital neutropenia | 1 | Dec 12, 2018 |
| XFE progeroid syndrome | 1 | Dec 12, 2018 |
| Xeroderma pigmentosum, group F | 1 | Dec 12, 2018 |
| Yao syndrome | 5 | Dec 29, 2020 |
| not provided | 62 | Dec 29, 2020 |
