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 |
Angelman 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 disorder | 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 V | 1 | Dec 12, 2018 |
Autoimmune lymphoproliferative syndrome | 5 | Dec 29, 2020 |
Autoimmune lymphoproliferative syndrome type 2B | 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, 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 |
Colorectal cancer | 1 | 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 |
DiGeorge sequence | 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 |
Disseminated atypical mycobacterial infection | 3 | Dec 29, 2020 |
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 |
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema | 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, 2 | 4 | Dec 29, 2020 |
Ehlers-Danlos syndrome, type 4 | 6 | Dec 29, 2020 |
Ehlers-Danlos syndrome, type 8 | 2 | Dec 29, 2020 |
Epidermal nevus syndrome | 1 | Dec 12, 2018 |
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, childhood-onset | 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 atypical mycobacteriosis, type 1, X-linked | 1 | Dec 12, 2018 |
Familial cancer of breast | 11 | Dec 29, 2020 |
Familial chronic mucocutaneous candidiasis | 1 | Dec 12, 2018 |
Familial cold autoinflammatory syndrome 2 | 3 | Dec 29, 2020 |
Familial cold autoinflammatory syndrome 3 | 5 | Dec 29, 2020 |
Familial cold urticaria | 6 | 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 |
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 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 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 syndrome | 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 |
Kohlschutter's syndrome | 2 | Dec 12, 2018 |
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 |
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 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 6 | 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-ophthalmoparesis syndrome | 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 syndrome | 2 | Dec 29, 2020 |
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 |
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 |
Tyrosine kinase 2 deficiency | 3 | 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 |
X-linked thrombocytopenia with normal platelets | 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 |