Disease by body system or component

Part of

Sub-types of Disease by body system or component

• Nervous system disorder 245 trials · 26,588 incl. sub-types
  72 sub-types

  • Central nervous system disorder 119 trials · 20,397 incl. sub-types Sub-types →
  • Hereditary neurological disease 6 trials · 5,772 incl. sub-types Sub-types →
  • Neurovascular disorder 5 trials · 4,196 incl. sub-types Sub-types →
  • Nervous system neoplasm 8 trials · 2,580 incl. sub-types Sub-types →
  • Perceptual disorders 22 trials · 2,382 incl. sub-types Sub-types →
  • Neuromuscular disease 112 trials · 2,344 incl. sub-types Sub-types →
  • Peripheral nervous system disorder 121 trials · 2,284 incl. sub-types Sub-types →
  • Neurological pain disorder 1 trial · 1,830 incl. sub-types Sub-types →
  • Nervous system injury 24 trials · 1,317 incl. sub-types Sub-types →
  • Neurodevelopmental disorder 161 trials · 1,128 incl. sub-types Sub-types →
  • Autoimmune disorder of the nervous system 47 trials · 1,060 incl. sub-types Sub-types →
  • Retinal disorder 89 trials · 959 incl. sub-types Sub-types →
  • Movement disorder 108 trials · 805 incl. sub-types Sub-types →
  • Cranial nerve neuropathy 4 trials · 390 incl. sub-types Sub-types →
  • Congenital nervous system disorder 1 trial · 284 incl. sub-types Sub-types →
  • Infectious disorder of the nervous system 4 trials · 231 incl. sub-types Sub-types →
  • Neurocutaneous syndrome 2 trials · 171 incl. sub-types Sub-types →
  • Atactic disorder 5 trials · 148 incl. sub-types Sub-types →
  • AL amyloidosis 92 trials · 98 incl. sub-types Sub-types →
  • Neuromyelitis optica 85 trials Sub-types →
  • Primary orthostatic hypotension 12 trials · 83 incl. sub-types Sub-types →
  • Developmental disability 81 trials Sub-types →
  • Toxic encephalopathy 28 trials · 74 incl. sub-types Sub-types →
  • Specific learning disability 19 trials · 66 incl. sub-types Sub-types →
  • Central nervous system malformation 5 trials · 51 incl. sub-types Sub-types →
  • Restless legs syndrome 45 trials
  • Neuroendocrine disorder 0 trials · 42 incl. sub-types Sub-types →
  • Qualitative or quantitative protein defects in neuromuscular diseases 0 trials · 30 incl. sub-types Sub-types →
  • Neuronitis 20 trials
  • Paraneoplastic neurologic syndrome 1 trial · 15 incl. sub-types Sub-types →
  • Stiff-person syndrome 12 trials Sub-types →
  • Locked-in syndrome 11 trials
  • Exercise-induced malignant hyperthermia 9 trials
  • Persistent idiopathic facial pain 9 trials
  • Serotonin syndrome 6 trials
  • Synaptopathy 0 trials · 6 incl. sub-types Sub-types →
  • Barre-Lieou syndrome 3 trials
  • AA amyloidosis 2 trials
  • Balint syndrome 2 trials
  • Dopa-responsive dystonia 1 trial · 2 incl. sub-types Sub-types →
  • Drug-induced akathisia 2 trials
  • Drug-induced dyskinesia 2 trials
  • Neurosarcoidosis 2 trials Sub-types →
  • Periodic paralysis 1 trial · 2 incl. sub-types Sub-types →
  • Sensory ganglionopathy 2 trials Sub-types →
  • Wallerian degeneration 1 trial
  • Diplegia of upper limb 1 trial
  • Neuroleptic malignant syndrome 1 trial
  • Prepubertal anorexia nervosa 1 trial
  • Radiculitis 1 trial
  • Gerstmann syndrome 0 trials
  • KIF1A related neurological disorder 0 trials Sub-types →
  • Sydenham chorea 0 trials
  • Worster-Drought syndrome 0 trials
  • Cerebellar hypoplasia-tapetoretinal degeneration syndrome 0 trials
  • Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 0 trials
  • Corneal-cerebellar syndrome 0 trials
  • Duplication of the pituitary gland 0 trials
  • Hypothalamic adipsic hypernatraemia syndrome 0 trials
  • Idiopathic recurrent stupor 0 trials
  • Meningitis-retention syndrome 0 trials
  • Neonatal brainstem dysfunction 0 trials
  • Pachygyria-intellectual disability-epilepsy syndrome 0 trials
  • Perineural cyst 0 trials
  • Porencephaly-cerebellar hypoplasia-internal malformations syndrome 0 trials
  • Post 5-alpha-reductase inhibitors treatment syndrome 0 trials
  • Post-selective serotonin reuptake inhibitor sexual dysfunction 0 trials
  • Rippling muscle disease with myasthenia gravis 0 trials
  • Spontaneous periodic hypothermia 0 trials
  • Symmetrical thalamic calcifications 0 trials
  • Tubulinopathy 0 trials Sub-types →
  • Wet beriberi 0 trials
• Digestive system disorder 168 trials · 16,300 incl. sub-types
  31 sub-types

  • Digestive system cancer 267 trials · 7,054 incl. sub-types Sub-types →
  • Pancreas disorder 44 trials · 5,580 incl. sub-types Sub-types →
  • Intestinal disorder 70 trials · 5,432 incl. sub-types Sub-types →
  • Hepatobiliary disorder 10 trials · 3,893 incl. sub-types Sub-types →
  • Stomach disorder 4 trials · 1,623 incl. sub-types Sub-types →
  • Upper digestive tract disorder 6 trials · 1,226 incl. sub-types Sub-types →
  • Autoimmune disorder of gastrointestinal tract 0 trials · 936 incl. sub-types Sub-types →
  • Digestive system infectious disorder 4 trials · 605 incl. sub-types Sub-types →
  • Neoplasm of oropharynx 3 trials · 279 incl. sub-types Sub-types →
  • Digestive system neuroendocrine neoplasm 52 trials · 167 incl. sub-types Sub-types →
  • Diarrheal disease 80 trials · 117 incl. sub-types Sub-types →
  • Peptic ulcer disease 26 trials · 67 incl. sub-types Sub-types →
  • Gastrointestinal mucositis 3 trials · 52 incl. sub-types Sub-types →
  • Benign digestive system neoplasm 0 trials · 41 incl. sub-types Sub-types →
  • Hereditary mixed polyposis syndrome 5 trials · 6 incl. sub-types Sub-types →
  • Juvenile polyposis syndrome 5 trials Sub-types →
  • Gastrointestinal polyp 0 trials · 3 incl. sub-types Sub-types →
  • Cronkhite-Canada syndrome 1 trial
  • Hyperplastic polyposis syndrome 1 trial Sub-types →
  • Meckel diverticulum 0 trials
  • Moyamoya disease with early-onset achalasia 0 trials
  • Caudal duplication 0 trials
  • Common mesentery 0 trials
  • Congenital enteropathy due to enteropeptidase deficiency 0 trials
  • Congenital peritoneal encapsulation 0 trials
  • Digestive duplication 0 trials
  • Diverticulosis of bowel, hernia, and retinal detachment 0 trials
  • Diverticulosis, small-intestinal 0 trials
  • Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
  • Thoraco-abdominal enteric duplication 0 trials
  • Umbilical cord ulceration-intestinal atresia syndrome 0 trials
• Cardiovascular disorder 1,115 trials · 15,366 incl. sub-types
  6 sub-types

  • Vascular disorder 141 trials · 10,696 incl. sub-types Sub-types →
  • Heart disorder 310 trials · 6,754 incl. sub-types Sub-types →
  • Congenital anomaly of cardiovascular system 5 trials · 595 incl. sub-types Sub-types →
  • Cardiovascular neoplasm 0 trials · 277 incl. sub-types Sub-types →
  • Autoimmune disorder of cardiovascular system 0 trials · 3 incl. sub-types Sub-types →
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
• Immune system disorder 151 trials · 12,959 incl. sub-types
  47 sub-types

  • Autoimmune disease 313 trials · 4,033 incl. sub-types Sub-types →
  • Leukocyte disorder 6 trials · 3,572 incl. sub-types Sub-types →
  • Immune system cancer 0 trials · 3,121 incl. sub-types Sub-types →
  • Bone marrow disorder 18 trials · 1,761 incl. sub-types Sub-types →
  • Inflammatory bowel disease 429 trials · 1,079 incl. sub-types Sub-types →
  • Hypersensitivity reaction disease 32 trials · 1,022 incl. sub-types Sub-types →
  • Immunodeficiency disease 55 trials · 776 incl. sub-types Sub-types →
  • Lymphoid system disorder 1 trial · 744 incl. sub-types Sub-types →
  • Psoriasis 379 trials Sub-types →
  • Inborn error of immunity 121 trials · 343 incl. sub-types Sub-types →
  • Graft versus host disease 186 trials · 300 incl. sub-types Sub-types →
  • Thymus gland disorder 1 trial · 240 incl. sub-types Sub-types →
  • Spondyloarthropathy 121 trials · 198 incl. sub-types Sub-types →
  • Thrombocytopenic purpura 8 trials · 116 incl. sub-types Sub-types →
  • Granulomatosis with polyangiitis 95 trials · 115 incl. sub-types Sub-types →
  • Phagocytic cell dysfunction 1 trial · 76 incl. sub-types Sub-types →
  • Cytokine release syndrome 33 trials
  • T-cell large granular lymphocyte leukemia 18 trials
  • Immunoproliferative disorder 18 trials
  • Familial Mediterranean fever 15 trials Sub-types →
  • Immunodeficiency-related disorder 1 trial · 15 incl. sub-types Sub-types →
  • Twin to twin transfusion syndrome 14 trials Sub-types →
  • 22q11.2 deletion syndrome 7 trials · 13 incl. sub-types Sub-types →
  • Immune reconstitution inflammatory syndrome 11 trials
  • Cryopyrin-associated periodic syndrome 10 trials Sub-types →
  • Acquired immunodeficiency 5 trials Sub-types →
  • TNF receptor 1-associated periodic fever syndrome 4 trials
  • Anti-HLA hyperimmunization 3 trials
  • Hyperimmunoglobulinemia D with periodic fever 2 trials
  • Proteosome-associated autoinflammatory syndrome 2 trials Sub-types →
  • Roifman syndrome 1 trial
  • Aggressive insulitis 1 trial
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 1 trial
  • Transcobalamin II deficiency 1 trial
  • CADINS disease 0 trials
  • Vici syndrome 0 trials
  • Autoinflammation, panniculitis, and dermatosis syndrome 0 trials Sub-types →
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
  • Autosomal recessive osteopetrosis 7 0 trials
  • Benign insulitis 0 trials
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 trials
  • Cytokine receptor deficiency 0 trials
  • Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome 0 trials
  • Epidermodysplasia verruciformis 0 trials Sub-types →
  • Erythroderma desquamativum 0 trials
  • Immune system organ benign neoplasm 0 trials Sub-types →
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 trials
• Endocrine system disorder 78 trials · 12,469 incl. sub-types
  48 sub-types

  • Pancreas disorder 44 trials · 5,580 incl. sub-types Sub-types →
  • Liver disorder 323 trials · 3,604 incl. sub-types Sub-types →
  • Endocrine gland neoplasm 8 trials · 3,332 incl. sub-types Sub-types →
  • Gonadal disorder 3 trials · 1,635 incl. sub-types Sub-types →
  • Autoimmune disorder of endocrine system 1 trial · 925 incl. sub-types Sub-types →
  • Thyroid gland disorder 96 trials · 538 incl. sub-types Sub-types →
  • Adrenal gland disorder 9 trials · 352 incl. sub-types Sub-types →
  • Thymus gland disorder 1 trial · 240 incl. sub-types Sub-types →
  • Polycystic ovary syndrome 200 trials
  • Hereditary endocrine growth disease 26 trials · 195 incl. sub-types Sub-types →
  • Pituitary gland disorder 18 trials · 175 incl. sub-types Sub-types →
  • Non-neoplastic bile duct disorder 0 trials · 172 incl. sub-types Sub-types →
  • Parathyroid gland disorder 14 trials · 164 incl. sub-types Sub-types →
  • Beta thalassemia 73 trials · 99 incl. sub-types Sub-types →
  • Pituitary deficiency 0 trials · 96 incl. sub-types Sub-types →
  • Polyendocrinopathy 0 trials · 81 incl. sub-types Sub-types →
  • Neuroendocrine disorder 0 trials · 42 incl. sub-types Sub-types →
  • Hyperinsulinemic hypoglycemia 2 trials · 14 incl. sub-types Sub-types →
  • Parneoplastic endocrine syndrome 0 trials · 11 incl. sub-types Sub-types →
  • Inherited obesity 8 trials · 9 incl. sub-types Sub-types →
  • Acquired hypothalamic obesity 7 trials
  • Disorder of GNAS inactivation 0 trials · 7 incl. sub-types Sub-types →
  • Disorders of vitamin D metabolism 0 trials · 3 incl. sub-types Sub-types →
  • Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 3 trials
  • NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types Sub-types →
  • Familial hypocalciuric hypercalcemia 0 trials · 1 incl. sub-types Sub-types →
  • 17,20-lyase deficiency, isolated 0 trials
  • 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete 0 trials
  • 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial 0 trials
  • Bamforth-Lazarus syndrome 0 trials
  • Leydig cell hypoplasia 0 trials Sub-types →
  • Wolfram-like syndrome 0 trials
  • Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
  • Campomelic dysplasia 0 trials
  • Diencephalic syndrome 0 trials
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 0 trials
  • Duplication of the pituitary gland 0 trials
  • Endocrine tuberculosis 0 trials Sub-types →
  • Estrogen resistance syndrome 0 trials
  • Genito-palato-cardiac syndrome 0 trials
  • Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 0 trials
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 trials
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
  • Hypothalamic adipsic hypernatraemia syndrome 0 trials
  • Muscular pseudohypertrophy-hypothyroidism syndrome 0 trials
  • Neonatal iodine exposure 0 trials
  • Short stature, microcephaly, and endocrine dysfunction 0 trials
  • Thyroid hormone metabolism, abnormal 0 trials Sub-types →
• Musculoskeletal system disorder 220 trials · 12,013 incl. sub-types
  22 sub-types

  • Skeletal system disorder 4 trials · 9,715 incl. sub-types Sub-types →
  • Muscle tissue disorder 57 trials · 2,419 incl. sub-types Sub-types →
  • Musculoskeletal system cancer 2 trials · 1,968 incl. sub-types Sub-types →
  • Autoimmune disorder of musculoskeletal system 0 trials · 795 incl. sub-types Sub-types →
  • Musculoskeletal system benign neoplasm 0 trials · 224 incl. sub-types Sub-types →
  • Disease of the tendon 126 trials · 192 incl. sub-types Sub-types →
  • Synovium disorder 0 trials · 149 incl. sub-types Sub-types →
  • Fasciitis 7 trials · 97 incl. sub-types Sub-types →
  • Ligament disorder 8 trials · 15 incl. sub-types Sub-types →
  • Klippel-Feil syndrome 14 trials Sub-types →
  • CINCA syndrome 4 trials
  • Enthesopathy 2 trials · 4 incl. sub-types Sub-types →
  • Ramon syndrome 0 trials
  • Short stature, Dauber-Argente type 0 trials
  • Upington disease 0 trials
  • Auriculoosteodysplasia 0 trials
  • Chondrodysplasia with joint dislocations, gPAPP type 0 trials
  • Hypertrophic osteoarthropathy, primary, autosomal dominant 0 trials
  • Osteoporosis-oculocutaneous hypopigmentation syndrome 0 trials
  • Short stature, Brussels type 0 trials
  • Synovial chondromatosis 0 trials
  • Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 0 trials
• Respiratory system disorder 150 trials · 10,848 incl. sub-types
  59 sub-types

  • Lower respiratory tract disorder 18 trials · 7,938 incl. sub-types Sub-types →
  • Respiratory system cancer 6 trials · 4,516 incl. sub-types Sub-types →
  • Respiratory tract neoplasm 32 trials · 4,437 incl. sub-types Sub-types →
  • Upper respiratory tract disorder 5 trials · 1,848 incl. sub-types Sub-types →
  • Respiratory tract infectious disorder 174 trials · 1,330 incl. sub-types Sub-types →
  • Sleep apnea syndrome 214 trials · 600 incl. sub-types Sub-types →
  • Disorder of pharynx 3 trials · 596 incl. sub-types Sub-types →
  • Cystic fibrosis 283 trials Sub-types →
  • Allergic respiratory disease 2 trials · 218 incl. sub-types Sub-types →
  • Paranasal sinus disorder 12 trials · 162 incl. sub-types Sub-types →
  • Perinatal asphyxia 152 trials
  • Pulmonary tuberculosis 107 trials · 110 incl. sub-types Sub-types →
  • Bronchopulmonary dysplasia 96 trials
  • Diaphragm disorder 27 trials · 91 incl. sub-types Sub-types →
  • Altitude sickness 54 trials · 56 incl. sub-types Sub-types →
  • Alpha 1-antitrypsin deficiency 44 trials
  • Pertussis 39 trials
  • Primary ciliary dyskinesia 34 trials Sub-types →
  • Severe acute respiratory syndrome 30 trials
  • Infantile apnea 5 trials · 22 incl. sub-types Sub-types →
  • Recurrent respiratory papillomatosis 8 trials · 9 incl. sub-types Sub-types →
  • Respiratory or thoracic malformation 0 trials · 8 incl. sub-types Sub-types →
  • Respiratory system benign neoplasm 1 trial · 8 incl. sub-types Sub-types →
  • Pulmonary hypoplasia 7 trials
  • Reactive airway disease 5 trials
  • Autoimmune interstitial lung disease-arthritis syndrome 3 trials Sub-types →
  • Congenital pulmonary airway malformation 3 trials Sub-types →
  • Young syndrome 2 trials
  • Diffuse alveolar hemorrhage 2 trials
  • Plastic bronchitis 2 trials
  • Middle East respiratory syndrome 1 trial
  • Bronchogenic cyst 1 trial
  • Congenital pulmonary sequestration 1 trial Sub-types →
  • 16q24.1 microdeletion syndrome 0 trials
  • IgG4-related mediastinitis 0 trials
  • Mounier-Kuhn syndrome 0 trials
  • Siegler-Brewer-Carey syndrome 0 trials
  • Williams-Campbell syndrome 0 trials
  • Acinar dysplasia 0 trials Sub-types →
  • Bronchiectasis and nasal polyposis 0 trials
  • Congenital bronchobiliary fistula 0 trials
  • Congenital pulmonary lymphangiectasia 0 trials
  • Eosinophilic granuloma 0 trials Sub-types →
  • Familial primary pulmonary hypoplasia 0 trials
  • Growth delay-hydrocephaly-lung hypoplasia syndrome 0 trials
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0 trials
  • Isolated left bronchial isomerism 0 trials
  • Laryngo-onycho-cutaneous syndrome 0 trials
  • Lung agenesis-heart defect-thumb anomalies syndrome 0 trials
  • Mucopolysaccharidosis-plus syndrome 0 trials
  • Pulmonary agenesis 0 trials
  • Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 trials
  • Pulmonary nodular lymphoid hyperplasia 0 trials
  • Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 0 trials
  • Staphylococcal necrotizing pneumonia 0 trials
  • Sudden infant death-dysgenesis of the testes syndrome 0 trials
  • Tracheal agenesis 0 trials
  • Tracheobronchopathia osteochondroplastica 0 trials
  • Transient hyperammonemia of the newborn 0 trials
• Reproductive system disorder 15 trials · 8,533 incl. sub-types
  30 sub-types

  • Reproductive system neoplasm 0 trials · 4,651 incl. sub-types Sub-types →
  • Female reproductive system disorder 27 trials · 3,567 incl. sub-types Sub-types →
  • Male reproductive system disorder 11 trials · 2,826 incl. sub-types Sub-types →
  • Sexually transmitted disease 127 trials · 1,703 incl. sub-types Sub-types →
  • Gonadal disorder 3 trials · 1,635 incl. sub-types Sub-types →
  • Infertility disorder 361 trials · 544 incl. sub-types Sub-types →
  • Physiological sexual disorder 78 trials · 197 incl. sub-types Sub-types →
  • Pituitary gland disorder 18 trials · 175 incl. sub-types Sub-types →
  • Pelvic organ prolapse 125 trials
  • Dysplasia of cervix 55 trials · 105 incl. sub-types Sub-types →
  • Hypospadias 35 trials Sub-types →
  • Habitual spontaneous abortion 28 trials
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 20 trials Sub-types →
  • Currarino triad 1 trial
  • Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 1 trial
  • Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 1 trial
  • Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 1 trial
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 1 trial
  • NR5A1-related sex development disorder 0 trials Sub-types →
  • Aromatase excess syndrome 0 trials
  • Cortisone reductase deficiency 0 trials Sub-types →
  • Diethylstilbestrol syndrome 0 trials
  • Double uterus-hemivagina-renal agenesis syndrome 0 trials
  • Estrogen resistance syndrome 0 trials
  • Female genital tuberculosis 0 trials
  • Hand-foot-genital syndrome 0 trials
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
  • Mullerian duct anomalies-limb anomalies syndrome 0 trials
  • Short stature, microcephaly, and endocrine dysfunction 0 trials
  • Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
• Hematologic disorder 174 trials · 8,503 incl. sub-types
  27 sub-types

  • Hematopoietic and lymphoid system neoplasm 692 trials · 6,319 incl. sub-types Sub-types →
  • Leukocyte disorder 6 trials · 3,572 incl. sub-types Sub-types →
  • Bone marrow disorder 18 trials · 1,761 incl. sub-types Sub-types →
  • Anemia 258 trials · 975 incl. sub-types Sub-types →
  • Erythrocyte disorder 7 trials · 616 incl. sub-types Sub-types →
  • Blood coagulation disease 54 trials · 539 incl. sub-types Sub-types →
  • Hemorrhagic disease 108 trials · 508 incl. sub-types Sub-types →
  • Blood platelet disease 18 trials · 369 incl. sub-types Sub-types →
  • Splenic disorder 3 trials · 248 incl. sub-types Sub-types →
  • Thymus gland disorder 1 trial · 240 incl. sub-types Sub-types →
  • Autoimmune disorder of blood 0 trials · 152 incl. sub-types Sub-types →
  • Congenital hematological disorder 1 trial · 101 incl. sub-types Sub-types →
  • Monoclonal gammopathy 24 trials · 68 incl. sub-types Sub-types →
  • Premalignant hematological system disease 3 trials · 25 incl. sub-types Sub-types →
  • Paraneoplastic hematological syndrome 0 trials · 9 incl. sub-types Sub-types →
  • Parasitemia 5 trials
  • Blood group incompatibility 2 trials Sub-types →
  • L-ferritin deficiency 1 trial
  • Deafness-lymphedema-leukemia syndrome 1 trial
  • Hyperamylasemia 1 trial
  • Bloom syndrome 0 trials
  • GATA1-Related X-Linked Cytopenia 0 trials Sub-types →
  • Alpha thalassemia-intellectual disability syndrome type 1 0 trials
  • Alpha-thalassemia-myelodysplastic syndrome 0 trials
  • Dyskeratosis congenita, autosomal dominant 6 0 trials
  • Polyclonal hyperviscosity syndrome 0 trials
  • Septicemic plague 0 trials
• Syndromic disease 25 trials · 7,133 incl. sub-types
  1,182 sub-types

  • Neoplastic syndrome 1 trial · 1,430 incl. sub-types Sub-types →
  • Obstructive sleep apnea syndrome 516 trials · 517 incl. sub-types Sub-types →
  • Acute respiratory distress syndrome 298 trials · 417 incl. sub-types Sub-types →
  • Abdominal obesity-metabolic syndrome 301 trials · 357 incl. sub-types Sub-types →
  • Acute coronary syndrome 298 trials
  • Fibromyalgia 279 trials
  • Dry eye syndrome 253 trials · 254 incl. sub-types Sub-types →
  • Toxic shock syndrome 224 trials Sub-types →
  • Irritable bowel syndrome 221 trials
  • Autoinflammatory syndrome 21 trials · 207 incl. sub-types Sub-types →
  • Psoriatic arthritis 188 trials · 201 incl. sub-types Sub-types →
  • Polycystic ovary syndrome 200 trials
  • Sjogren syndrome 166 trials
  • Temporomandibular joint dysfunction syndrome 85 trials
  • Progressive supranuclear palsy 73 trials · 77 incl. sub-types Sub-types →
  • Myalgic encephalomeyelitis/chronic fatigue syndrome 73 trials
  • Syndromic dyslipidemia 0 trials · 73 incl. sub-types Sub-types →
  • Nephrotic syndrome 47 trials · 71 incl. sub-types Sub-types →
  • Cushing syndrome 42 trials · 66 incl. sub-types Sub-types →
  • Myotonic syndrome 11 trials · 61 incl. sub-types Sub-types →
  • Antiphospholipid syndrome 58 trials · 59 incl. sub-types Sub-types →
  • Substance withdrawal syndrome 30 trials · 59 incl. sub-types Sub-types →
  • Hemophagocytic syndrome 38 trials · 58 incl. sub-types Sub-types →
  • Multiple organ dysfunction syndrome 50 trials
  • Hypereosinophilic syndrome 19 trials · 49 incl. sub-types Sub-types →
  • Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types Sub-types →
  • Ectodermal dysplasia syndrome 3 trials · 45 incl. sub-types Sub-types →
  • Alpha 1-antitrypsin deficiency 44 trials
  • Tourette syndrome 41 trials
  • Guillain-Barre syndrome 23 trials · 39 incl. sub-types Sub-types →
  • Type 2 collagenopathy 0 trials · 39 incl. sub-types Sub-types →
  • Syndromic intellectual disability 2 trials · 38 incl. sub-types Sub-types →
  • Behcet disease 37 trials
  • X-linked ichthyosis syndrome 0 trials · 37 incl. sub-types Sub-types →
  • Syndromic agammaglobulinemia 7 trials · 37 incl. sub-types Sub-types →
  • Fragile X syndrome 34 trials Sub-types →
  • Primary ciliary dyskinesia 34 trials Sub-types →
  • Dialysis disequilibrium syndrome 33 trials
  • Eosinophilic granulomatosis with polyangiitis 33 trials
  • Exfoliation syndrome 32 trials
  • Prader-Willi syndrome 31 trials Sub-types →
  • Rett syndrome 31 trials
  • Complex regional pain syndrome type 1 31 trials
  • Acute chest syndrome 30 trials
  • Polymyalgia rheumatica 30 trials
  • Syndromic congenital heart disease 0 trials · 30 incl. sub-types Sub-types →
  • Long QT syndrome 22 trials · 29 incl. sub-types Sub-types →
  • Turner syndrome 28 trials Sub-types →
  • Corticobasal degeneration disorder 28 trials
  • Familial developmental dysphasia 28 trials
  • Lennox-Gastaut syndrome 26 trials · 27 incl. sub-types Sub-types →
  • Takayasu arteritis 27 trials
  • Posterior leukoencephalopathy syndrome 27 trials
  • Piriformis syndrome 25 trials
  • Noonan syndrome 21 trials · 24 incl. sub-types Sub-types →
  • Mucopolysaccharidosis type 2 24 trials Sub-types →
  • Post-cardiac arrest syndrome 24 trials
  • Central sleep apnea syndrome 21 trials · 23 incl. sub-types Sub-types →
  • Sick sinus syndrome 22 trials Sub-types →
  • Syndromic craniosynostosis 1 trial · 22 incl. sub-types Sub-types →
  • Marfan syndrome 21 trials Sub-types →
  • Cardiovascular-kidney-metabolic syndrome 21 trials
  • Paraneoplastic syndrome 1 trial · 20 incl. sub-types Sub-types →
  • Persian gulf syndrome 20 trials
  • Angelman syndrome 19 trials Sub-types →
  • Evans syndrome 19 trials
  • Atypical hemolytic-uremic syndrome 19 trials Sub-types →
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types Sub-types →
  • Dumping syndrome 19 trials
  • Infantile spasms 8 trials · 19 incl. sub-types Sub-types →
  • Alport syndrome 17 trials · 18 incl. sub-types Sub-types →
  • Williams syndrome 18 trials
  • Cardio-renal syndrome 18 trials
  • Complex regional pain syndrome type 2 18 trials
  • Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types Sub-types →
  • Fetal alcohol syndrome 17 trials
  • Progressive familial intrahepatic cholestasis 16 trials · 17 incl. sub-types Sub-types →
  • Usher syndrome 14 trials · 16 incl. sub-types Sub-types →
  • Alagille syndrome 15 trials Sub-types →
  • Netherton syndrome 15 trials
  • Arts syndrome 14 trials
  • Erdheim-Chester disease 14 trials
  • MELAS syndrome 13 trials · 14 incl. sub-types Sub-types →
  • Compartment syndrome 14 trials Sub-types →
  • Fetal cytomegalovirus syndrome 14 trials
  • HELLP syndrome 13 trials
  • Familial chylomicronemia syndrome 11 trials · 13 incl. sub-types Sub-types →
  • Hepatorenal syndrome 13 trials
  • Stiff-person syndrome 12 trials Sub-types →
  • Syndromic oculocutaneous albinism 0 trials · 12 incl. sub-types Sub-types →
  • Simpson-Golabi-Behmel syndrome 11 trials Sub-types →
  • Autoimmune polyendocrinopathy 3 trials · 11 incl. sub-types Sub-types →
  • Syndromic microphthalmia 0 trials · 11 incl. sub-types Sub-types →
  • Thoracic outlet syndrome 11 trials Sub-types →
  • Brugada syndrome 10 trials Sub-types →
  • Marinesco-Sjogren syndrome 10 trials
  • Phelan-McDermid syndrome 10 trials Sub-types →
  • Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
  • Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types Sub-types →
  • Post-infectious syndrome 5 trials · 10 incl. sub-types Sub-types →
  • Mayer-Rokitansky-Kuster-Hauser syndrome 8 trials · 9 incl. sub-types Sub-types →
  • Stevens-Johnson syndrome 9 trials
  • Burning mouth syndrome 9 trials Sub-types →
  • Calciphylaxis 9 trials Sub-types →
  • Hand-foot syndrome 9 trials
  • Sickle cell-beta-thalassemia disease syndrome 5 trials · 9 incl. sub-types Sub-types →
  • IRF6-related condition 0 trials · 8 incl. sub-types Sub-types →
  • Leriche syndrome 8 trials
  • Breast implant illness 8 trials
  • Developmental and/or epileptic encephalopathy with spike-wave activation in sleep 8 trials Sub-types →
  • Mucopolysaccharidosis type 6 8 trials Sub-types →
  • Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
  • Bardet-Biedl syndrome 6 trials · 7 incl. sub-types Sub-types →
  • Silver-Russell syndrome 7 trials Sub-types →
  • Wolfram syndrome 7 trials Sub-types →
  • Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types Sub-types →
  • Cystinuria 7 trials Sub-types →
  • Miliaria 7 trials Sub-types →
  • Sickle cell-hemoglobin c disease syndrome 7 trials
  • DICER1-related tumor predisposition 1 trial · 6 incl. sub-types Sub-types →
  • Duane retraction syndrome 6 trials Sub-types →
  • Hurler syndrome 6 trials
  • Loeys-Dietz syndrome 6 trials Sub-types →
  • Angioosteohypertrophic syndrome 6 trials
  • Carcinoid syndrome 6 trials Sub-types →
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive 6 trials
  • Growth hormone insensitivity syndrome 0 trials · 6 incl. sub-types Sub-types →
  • Neonatal aspiration syndrome 1 trial · 6 incl. sub-types Sub-types →
  • Tethered spinal cord syndrome 6 trials
  • CLOVES syndrome 5 trials
  • Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
  • Eisenmenger syndrome 5 trials
  • IMAGe syndrome 5 trials
  • Kearns-Sayre syndrome 5 trials
  • MERRF syndrome 5 trials
  • McCune-Albright syndrome 5 trials
  • Menkes disease 5 trials
  • Shwachman-Diamond syndrome 5 trials Sub-types →
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
  • Cerebellar ataxia, intellectual disability, and dysequilibrium 5 trials Sub-types →
  • Congenital myasthenic syndrome 5 trials Sub-types →
  • Craniofacial microsomia 5 trials Sub-types →
  • Drug rash with eosinophilia and systemic symptoms 5 trials
  • Pelvis syndrome 5 trials
  • Boerhaave syndrome 4 trials
  • CHARGE syndrome 4 trials Sub-types →
  • Fanconi renotubular syndrome 4 trials Sub-types →
  • Kenny-Caffey syndrome 0 trials · 4 incl. sub-types Sub-types →
  • SUNCT syndrome 4 trials
  • Stickler syndrome 2 trials · 4 incl. sub-types Sub-types →
  • Hypoplastic right heart syndrome 0 trials · 4 incl. sub-types Sub-types →
  • Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
  • Nephronophthisis 1 4 trials
  • Trisomy 13 4 trials Sub-types →
  • Barre-Lieou syndrome 3 trials
  • Hutchinson-Gilford progeria syndrome 3 trials
  • Kallmann syndrome 3 trials Sub-types →
  • Noonan syndrome with multiple lentigines 3 trials Sub-types →
  • Pearson syndrome 3 trials
  • Pitt-Hopkins syndrome 3 trials
  • Cannabinoid hyperemesis syndrome 3 trials
  • Facial hemiatrophy 3 trials
  • Hereditary alpha tryptasemia syndrome 3 trials
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types Sub-types →
  • Iridocorneal endothelial syndrome 1 trial · 3 incl. sub-types Sub-types →
  • Mitochondrial DNA depletion syndrome 4a 3 trials
  • Oculocerebrorenal syndrome 3 trials
  • Ornithine translocase deficiency 3 trials
  • Triple-A syndrome 3 trials
  • Trisomy 18 3 trials Sub-types →
  • Trisomy X 3 trials
  • Aicardi syndrome 2 trials
  • Birt-Hogg-Dube syndrome 2 trials Sub-types →
  • Charles bonnet syndrome 2 trials
  • Cri-du-chat syndrome 2 trials
  • Hurler-Scheie syndrome 2 trials
  • Joubert syndrome 2 trials Sub-types →
  • Kabuki syndrome 2 trials Sub-types →
  • Mobius syndrome 2 trials Sub-types →
  • Pallister-Hall syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Poland syndrome 2 trials
  • Susac syndrome 2 trials
  • Werner syndrome 2 trials
  • Acrocallosal syndrome 2 trials
  • Cauda equina syndrome 2 trials Sub-types →
  • Celiac trunk compression syndrome 2 trials
  • Congenital cardiovascular shunt 2 trials
  • Craniofacial and skeletal defects 2 trials
  • Dilated cardiomyopathy 1A 2 trials
  • Disappearing bone disease 0 trials · 2 incl. sub-types Sub-types →
  • Engraftment syndrome 2 trials
  • Enlarged vestibular aqueduct syndrome 2 trials
  • Gas bloat syndrome 2 trials
  • Hantavirus pulmonary syndrome 2 trials
  • Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2 trials
  • Jaw-winking syndrome 2 trials Sub-types →
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 trials
  • Nail-patella syndrome 2 trials
  • Polydactyly-myopia syndrome 2 trials
  • Retrograde cricopharyngeus dysfunction 2 trials
  • Short rib-polydactyly syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Superior mesenteric artery syndrome 2 trials
  • Superior vena cava syndrome 2 trials
  • Sweet syndrome 2 trials
  • Vertebral artery insufficiency 2 trials
  • Xeroderma pigmentosum-Cockayne syndrome complex 1 trial · 2 incl. sub-types Sub-types →
  • Aagenaes syndrome 1 trial
  • Adams-Stokes syndrome 1 trial
  • Alstrom syndrome 1 trial
  • Axenfeld-Rieger syndrome 1 trial Sub-types →
  • BNAR syndrome 1 trial
  • Capgras syndrome 1 trial
  • Caroli syndrome 1 trial
  • Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 1 trial
  • Coffin-Siris syndrome 1 trial Sub-types →
  • Currarino triad 1 trial
  • DNA ligase IV deficiency 1 trial
  • Denys-Drash syndrome 1 trial
  • Duane-radial ray syndrome 1 trial Sub-types →
  • EEC syndrome 1 trial Sub-types →
  • Freeman-Sheldon syndrome 1 trial Sub-types →
  • Fryns syndrome 1 trial
  • German syndrome 1 trial
  • Holmes-Adie syndrome 1 trial
  • Joubert syndrome with oculorenal defect 1 trial Sub-types →
  • Lesch-Nyhan syndrome 1 trial Sub-types →
  • Liddle syndrome 1 trial Sub-types →
  • MPI-congenital disorder of glycosylation 1 trial
  • Meckel syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Meier-Gorlin syndrome 1 trial Sub-types →
  • NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types Sub-types →
  • Potocki-Lupski syndrome 1 trial
  • Potter sequence 1 trial
  • RHYNS syndrome 1 trial
  • RNU4ATAC spectrum disorder 1 trial Sub-types →
  • Reunion island Larsen syndrome 1 trial
  • Scheie syndrome 1 trial
  • Seckel syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Sotos syndrome 1 trial
  • Tolosa-Hunt syndrome 1 trial
  • Waardenburg syndrome 1 trial Sub-types →
  • Wernicke-Korsakoff syndrome 1 trial Sub-types →
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
  • Acute radiation syndrome 1 trial
  • Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial Sub-types →
  • Atlanto-axial fusion 1 trial
  • Bidirectional tachycardia 1 trial
  • Capillary leak syndrome 1 trial
  • Cleidocranial dysplasia 1 1 trial
  • Congenital amputation 1 trial
  • Congenital insensitivity to pain syndrome, Marsili type 1 trial
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
  • Craniofrontonasal syndrome 1 trial
  • Deafness-infertility syndrome 1 trial
  • Deafness-lymphedema-leukemia syndrome 1 trial
  • Epidermal nevus syndrome 1 trial
  • Epilepsy with myoclonic atonic seizures 1 trial
  • Gastrointestinal defects and immunodeficiency syndrome 1 1 trial
  • Human HOXA1 syndromes 1 trial Sub-types →
  • Hypoparathyroidism-deafness-renal disease syndrome 1 trial
  • Ichthyosis prematurity syndrome 1 trial
  • Levator syndrome 1 trial
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 trial
  • Metaphyseal chondrodysplasia, Jansen type 1 trial
  • Microcephalic osteodysplastic primordial dwarfism types I and III 0 trials · 1 incl. sub-types Sub-types →
  • Microtia with meatal atresia and conductive deafness 1 trial
  • Monoclonal mast cell activation syndrome 1 trial
  • Neuroleptic malignant syndrome 1 trial
  • Orofaciodigital syndrome I 1 trial
  • Palindromic rheumatism 1 trial
  • Pituitary stalk interruption syndrome 1 trial
  • Postaxial acrofacial dysostosis 1 trial
  • Prune belly syndrome 1 trial
  • Septooptic dysplasia 1 trial Sub-types →
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 1 trial
  • Subclavian steal syndrome 1 trial
  • Tarsal tunnel syndrome 1 trial
  • Thalidomide embryopathy 1 trial
  • Thrombocytopenia-absent radius syndrome 1 trial
  • Visceral heterotaxy 1 trial Sub-types →
  • 3-M syndrome 0 trials Sub-types →
  • 46,XX disorder of sex development-anorectal anomalies syndrome 0 trials
  • 48,XXXY syndrome 0 trials
  • 48,XXYY syndrome 0 trials
  • 48,XYYY syndrome 0 trials
  • 49,XXXXY syndrome 0 trials
  • 6q terminal deletion syndrome 0 trials
  • 8p23.1 microdeletion syndrome 0 trials
  • AIDS dysmorphic syndrome 0 trials
  • ANE syndrome 0 trials
  • Abruzzo-Erickson syndrome 0 trials
  • Achard syndrome 0 trials
  • Achard-Thiers syndrome 0 trials
  • Achenbach syndrome 0 trials
  • Acrootoocular syndrome 0 trials
  • Ahumada Del Castillo syndrome 0 trials
  • Aksu von Stockhausen syndrome 0 trials
  • Al-Gazali syndrome 0 trials
  • Alfadhel syndrome 0 trials
  • Alice in Wonderland syndrome 0 trials
  • Alkuraya-Kucinskas syndrome 0 trials
  • Aloi Tomasini Isaia syndrome 0 trials
  • Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 0 trials Sub-types →
  • Alsahan-Harris syndrome 0 trials
  • Apert-like polydactyly syndrome 0 trials
  • Armfield syndrome 0 trials
  • Arnold stickler bourne syndrome 0 trials
  • Atkin-Flaitz syndrome 0 trials
  • Ayme-Gripp syndrome 0 trials
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 trials
  • BD syndrome 0 trials
  • BRESEK syndrome 0 trials
  • Bamforth-Lazarus syndrome 0 trials
  • Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
  • Barnicoat Baraitser syndrome 0 trials
  • Bartter syndrome 0 trials Sub-types →
  • Basedow's coma 0 trials
  • Basilicata-Akhtar syndrome 0 trials
  • Beardwell syndrome 0 trials
  • Bencze syndrome 0 trials
  • Bernard-Soulier syndrome 0 trials Sub-types →
  • Bloom syndrome 0 trials
  • Bonnemann-Meinecke-Reich syndrome 0 trials
  • Bonnevie-Ullrich syndrome 0 trials
  • Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
  • Brown-Sequard syndrome 0 trials
  • Bruck syndrome 0 trials Sub-types →
  • Brunsting-Perry syndrome 0 trials
  • Buschke-Ollendorff syndrome 0 trials
  • CADDS 0 trials
  • CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 0 trials
  • CEDNIK syndrome 0 trials
  • CODAS syndrome 0 trials
  • COG1-congenital disorder of glycosylation 0 trials
  • COG5-congenital disorder of glycosylation 0 trials
  • CREST syndrome 0 trials
  • CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 0 trials Sub-types →
  • Camurati-Engelmann disease 0 trials Sub-types →
  • Cantu Sanchez-Corona Fragoso syndrome 0 trials
  • Cantu Sanchez-Corona Garcia-Cruz syndrome 0 trials
  • Cantu Sanchez-Corona Hernandez syndrome 0 trials
  • Carnevale hernandez castillo syndrome 0 trials
  • Cartwright Nelson Fryns syndrome 0 trials
  • Cerebrorenodigital syndrome 0 trials
  • Christian Demyer Franken syndrome 0 trials
  • Christian Johnson angenieta syndrome 0 trials
  • Christianson syndrome 0 trials
  • Cohen Lockood Wyborney syndrome 0 trials
  • Cole-Carpenter syndrome 0 trials Sub-types →
  • Collins-Sakati syndrome 0 trials
  • Colver Steer Godman syndrome 0 trials
  • Combarros Calleja Leno syndrome 0 trials
  • Cormier Rustin Munnich syndrome 0 trials
  • Cortes Lacassie syndrome 0 trials
  • Cramp-fasciculation syndrome 0 trials
  • Crandall syndrome 0 trials
  • Crigler-Najjar syndrome 0 trials Sub-types →
  • Czeizel-Losonci syndrome 0 trials
  • DK1-congenital disorder of glycosylation 0 trials
  • DOORS syndrome 0 trials
  • Davenport-Donlan syndrome 0 trials
  • Davis Lafer syndrome 0 trials
  • Dennis-Fairhurst-Moore syndrome 0 trials
  • Diamond-Blackfan anemia 2 0 trials
  • Donohue syndrome 0 trials
  • Drachtman Weinblatt Sitarz syndrome 0 trials
  • Duane anomaly-myopathy-scoliosis syndrome 0 trials
  • Dubin-Johnson syndrome 0 trials
  • Duker-Weiss-Siber syndrome 0 trials
  • Dursun syndrome 0 trials
  • Dursun-Ozgul neurodevelopmental syndrome 0 trials
  • Dyggve-Melchior-Clausen disease 0 trials Sub-types →
  • EDICT syndrome 0 trials
  • Eagle syndrome 0 trials
  • Elliott ludman Teebi syndrome 0 trials
  • Elsahy-Waters syndrome 0 trials
  • Engelhard Yatziv syndrome 0 trials
  • FG syndrome 0 trials Sub-types →
  • FICUS syndrome 0 trials
  • FRAXF syndrome 0 trials
  • Fanconi-like syndrome 0 trials Sub-types →
  • Faye-Petersen-Ward-Carey syndrome 0 trials
  • Feingold syndrome 0 trials Sub-types →
  • Feingold trainer syndrome 0 trials
  • Felty syndrome 0 trials
  • Finnish type amyloidosis 0 trials
  • Fitz-Hugh-Curtis syndrome 0 trials
  • Fliedner-Zweier syndrome 0 trials
  • Fontaine farriaux blanckaert syndrome 0 trials
  • Frank-Ter Haar syndrome 0 trials
  • Fraser Jequier Chen syndrome 0 trials
  • Fraser syndrome 0 trials Sub-types →
  • Frasier syndrome 0 trials
  • Freiberg disease 0 trials
  • Friedman Goodman syndrome 0 trials
  • Froelich syndrome 0 trials
  • Fryns Fabry Remans syndrome 0 trials
  • Fryns Smeets Thiry syndrome 0 trials
  • Fuchs atrophia gyrata chorioideae et retinae 0 trials
  • Fuchs heterochromic iridocyclitis 0 trials
  • Fukuda-Miyanomae-Nakata syndrome 0 trials
  • Fuqua Berkovitz syndrome 0 trials
  • GMS syndrome 0 trials
  • Galloway-Mowat syndrome 0 trials Sub-types →
  • Gamstorp-Wohlfart syndrome 0 trials
  • Garret-Tripp syndrome 0 trials
  • Gaucher ichthyosis restrictive dermopathy 0 trials
  • Ghose-Sachdev-Kumar syndrome 0 trials
  • Gilbert syndrome 0 trials
  • Gitelman syndrome 0 trials
  • Goldberg-Shprintzen syndrome 0 trials
  • Greig cephalopolysyndactyly syndrome 0 trials Sub-types →
  • Grisel syndrome 0 trials
  • Grubben-de Cock-Borghgraef syndrome 0 trials
  • Guillouet-Gordon syndrome 0 trials
  • Guttmacher syndrome 0 trials
  • HEC syndrome 0 trials
  • Harel-Tora neurodevelopmental syndrome 0 trials
  • Hartsfield-Bixler-Demyer syndrome 0 trials
  • Hennekam syndrome 0 trials Sub-types →
  • Hernández-Aguirre Negrete syndrome 0 trials
  • Hirschsprung disease-ganglioneuroblastoma syndrome 0 trials
  • Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
  • Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 0 trials
  • Hirschsprung disease-type D brachydactyly syndrome 0 trials
  • Ho-Kaufman-McAlister syndrome 0 trials
  • Holzgreve-Wagner-Rehder syndrome 0 trials
  • Houge-Janssens syndrome 0 trials Sub-types →
  • Hoxha-Aliu syndrome 0 trials
  • Hughes-Stovin syndrome 0 trials
  • ICHAD syndrome 0 trials
  • IFAP syndrome 0 trials Sub-types →
  • Imerslund-Grasbeck syndrome 0 trials Sub-types →
  • Jaberi-Elahi syndrome 0 trials
  • Jacobsen syndrome 0 trials
  • Jaffer-Beighton syndrome 0 trials
  • Joubert syndrome with ocular defect 0 trials Sub-types →
  • Judge Misch wright syndrome 0 trials
  • KAT6B-related multiple congenital anomalies syndrome 0 trials
  • KINSSHIP syndrome 0 trials
  • KLHL7-related Bohring-Opitz-like syndrome 0 trials
  • KLHL7-related cold-induced sweating-like syndrome 0 trials
  • Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 trials
  • Kariminejad neurodevelopmental syndrome 0 trials
  • Kashani-Strom-Utley syndrome 0 trials
  • Kasznica-Carlson-Coppedge syndrome 0 trials
  • Katsantoni-Papadakou-Lagoyanni syndrome 0 trials
  • Kleine-Levin syndrome 0 trials
  • Kluver-Bucy syndrome 0 trials
  • Kocher-debre-Semelaigne syndrome 0 trials
  • Koone-Rizzo-Elias syndrome 0 trials
  • Kousseff syndrome 0 trials
  • Kozlowski Brown Hardwick syndrome 0 trials
  • Kozlowski Ouvrier syndrome 0 trials
  • Kozlowski Rafinski Klicharska syndrome 0 trials
  • Kozlowski Warren Fisher syndrome 0 trials
  • Krauss Herman Holmes syndrome 0 trials
  • Krieble Bixler syndrome 0 trials
  • Kuster Majewski Hammerstein syndrome 0 trials
  • Kuster syndrome 0 trials
  • Landau-Kleffner syndrome 0 trials
  • Landy-Donnai syndrome 0 trials
  • Laugier-Hunziker syndrome 0 trials
  • Laurence-Moon syndrome 0 trials
  • Laurence-Prosser-Rocker syndrome 0 trials
  • Leigh syndrome, mitochondrial 0 trials
  • Lenz-Majewski hyperostotic dwarfism 0 trials
  • Li-Takada-Miyake syndrome 0 trials
  • Liberfarb syndrome 0 trials
  • Long-Olsen-Distelmaier syndrome 0 trials
  • Lopes-Maciel-Rodan syndrome 0 trials
  • Lowe-Kohn-Cohen syndrome 0 trials
  • Lown-Ganong-Levine syndrome 0 trials
  • Lui-Jee-Baron syndrome 0 trials
  • Luscan-Lumish syndrome 0 trials
  • MEDNIK syndrome 0 trials
  • MIRAGE syndrome 0 trials
  • MYT1L-related developmental delay-intellectual disability-obesity syndrome 0 trials
  • Mallory-Weiss syndrome 0 trials
  • Marinesco-Sjogren-like syndrome 0 trials
  • Marshall-Smith syndrome 0 trials
  • Mauriac syndrome 0 trials
  • Meacham syndrome 0 trials
  • Meester-Loeys syndrome 0 trials
  • Melhem-Fahl syndrome 0 trials
  • Melkersson-Rosenthal syndrome 0 trials
  • Mietens syndrome 0 trials
  • Mikati-Najjar-Sahli syndrome 0 trials
  • Miller Fisher syndrome 0 trials
  • Miller-Dieker lissencephaly syndrome 0 trials
  • Milner-Khallouf-Gibson syndrome 0 trials
  • Morimoto-Ryu-Malicdan neuromuscular syndrome 0 trials
  • Muggenthaler-Chowdhury-Chioza syndrome 0 trials
  • NDUFB11-related disorders 0 trials Sub-types →
  • Nager acrofacial dysostosis 0 trials
  • Nathalie syndrome 0 trials
  • Neu-Laxova syndrome 0 trials Sub-types →
  • Norman-Roberts syndrome 0 trials
  • Opitz G/BBB syndrome 0 trials Sub-types →
  • PAGOD syndrome 0 trials
  • PCWH syndrome 0 trials
  • PEHO syndrome 0 trials
  • PMP22-RAI1 contiguous gene duplication syndrome 0 trials
  • Pallister-W syndrome 0 trials
  • Pan-Chung-Bellen syndrome 0 trials
  • Parana hard-skin syndrome 0 trials
  • Parinaud syndrome 0 trials
  • Pavone Fiumara Rizzo syndrome 0 trials
  • Pendred syndrome 0 trials
  • Perlman syndrome 0 trials
  • Perry syndrome 0 trials
  • Peters plus syndrome 0 trials
  • Pfeiffer Tietze Welte syndrome 0 trials
  • Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 0 trials
  • Plummer-Vinson syndrome 0 trials
  • Potocki-Shaffer syndrome 0 trials
  • Primrose syndrome 0 trials
  • Qazi Markouizos syndrome 0 trials
  • RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 0 trials Sub-types →
  • Rabson-Mendenhall syndrome 0 trials
  • Rahman syndrome 0 trials
  • Ramond-Elliott neurodevelopmental syndrome 0 trials
  • Reye syndrome 0 trials
  • Roberts-SC phocomelia syndrome 0 trials
  • Robinow syndrome 0 trials Sub-types →
  • Roussy-Levy syndrome 0 trials
  • Rubinstein Taybi like syndrome 0 trials
  • Ruvalcaba syndrome 0 trials
  • Ruzicka-Goerz-Anton syndrome 0 trials
  • SCARF syndrome 0 trials
  • SHORT syndrome 0 trials
  • STAD syndrome 0 trials
  • Saal-Bulas syndrome 0 trials
  • Sackey-Sakati-Aur syndrome 0 trials
  • Sammartino-Decreccio syndrome 0 trials
  • Samson-Gardner syndrome 0 trials
  • Samson-Viljoen syndrome 0 trials
  • Sanderson-Fraser syndrome 0 trials
  • Sandhaus-Ben-Ami syndrome 0 trials
  • Sandifer syndrome 0 trials
  • Saul-Wilkes-Stevenson syndrome 0 trials
  • Say-Barber-Miller syndrome 0 trials
  • Schilbach-Rott syndrome 0 trials
  • Schlegelberger-Grote syndrome 0 trials
  • Schmid metaphyseal chondrodysplasia 0 trials
  • Schrander-stumpel-Theunissen-Hulsmans syndrome 0 trials
  • Schwartz-Cohen-addad-Lambert syndrome 0 trials
  • Schwartz-Jampel syndrome 0 trials Sub-types →
  • Seckel like syndrome majoor-krakauer type 0 trials
  • Sheehan syndrome 0 trials
  • Sillence syndrome 0 trials
  • Skraban-Deardorff syndrome 0 trials
  • Slti-Salem syndrome 0 trials
  • Spigelian hernia-cryptorchidism syndrome 0 trials
  • Stankiewicz-Isidor syndrome 0 trials
  • Sweeney-Cox syndrome 0 trials
  • Tan-Almurshedi syndrome 0 trials
  • Tayoun-Maawali syndrome 0 trials
  • Tietze syndrome 0 trials
  • Townes-Brocks syndrome 0 trials Sub-types →
  • Treacher-Collins syndrome 0 trials Sub-types →
  • VACTERL with hydrocephalus 0 trials Sub-types →
  • VACTERL/vater association 0 trials Sub-types →
  • Valence-Farazi cerebellar ataxia syndrome 0 trials
  • Ververi-Brady syndrome 0 trials Sub-types →
  • Vici syndrome 0 trials
  • Waterhouse-Friderichsen syndrome 0 trials
  • Weaver syndrome 0 trials
  • Weill-Marchesani syndrome 0 trials Sub-types →
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • Wildervanck syndrome 0 trials
  • Wissler syndrome 0 trials
  • Wolcott-Rallison syndrome 0 trials
  • Wolf-Hirschhorn syndrome 0 trials
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 trials
  • X-linked corneal dermoid 0 trials
  • X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 0 trials
  • X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 0 trials
  • X-linked lissencephaly with abnormal genitalia 0 trials
  • X-linked mandibulofacial dysostosis 0 trials
  • X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 0 trials
  • X-linked myotubular myopathy-abnormal genitalia syndrome 0 trials
  • X-linked spasticity-intellectual disability-epilepsy syndrome 0 trials
  • XFE progeroid syndrome 0 trials
  • Yuksel-Vogel-Bauer syndrome 0 trials
  • Yunis-Varon syndrome 0 trials
  • Zadik-Barak-Levin syndrome 0 trials
  • Zazam Sheriff Phillips syndrome 0 trials
  • Zerres Rietschel Majewski syndrome 0 trials
  • Zinner syndrome 0 trials
  • Ablepharon macrostomia syndrome 0 trials
  • Achalasia-alacrima syndrome 0 trials
  • Acral dysostosis dyserythropoiesis syndrome 0 trials
  • Acrofrontofacionasal dysostosis 2 0 trials
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 trials
  • Acute lymphoblastic leukemia congenital sporadic aniridia 0 trials
  • Aglossia and situs inversus 0 trials
  • Agnathia-microstomia-synotia 0 trials
  • Agyria pachygyria polymicrogyria 0 trials
  • Agyria-pachygyria type 1 0 trials
  • Alacrima, achalasia, and intellectual disability syndrome 0 trials
  • Alopecia - intellectual disability syndrome 0 trials Sub-types →
  • Alopecia congenita keratosis palmoplantaris 0 trials
  • Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
  • Alpha thalassemia-intellectual disability syndrome type 1 0 trials
  • Alpha-mannosidosis type 1 0 trials
  • Alpha-thalassemia-myelodysplastic syndrome 0 trials
  • Aluminosis 0 trials
  • Amelia cleft lip palate hydrocephalus iris coloboma 0 trials
  • Angioosteohypotrophic syndrome 0 trials
  • Aniridia - intellectual disability syndrome 0 trials
  • Aniridia-absent patella syndrome 0 trials
  • Aniridia-cerebellar ataxia-intellectual disability syndrome 0 trials
  • Aniridia-ptosis-intellectual disability-familial obesity syndrome 0 trials
  • Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
  • Ankle defects short stature 0 trials
  • Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 trials
  • Ankyloblepharon filiforme imperforate anus 0 trials
  • Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
  • Annular constricting bands 0 trials
  • Anophthalmia cleft palate micrognathia 0 trials
  • Anophthalmia esophageal atresia cryptorchidism 0 trials
  • Anophthalmia plus syndrome 0 trials
  • Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
  • Anotia facial palsy cardiac defect 0 trials
  • Anterior spinal artery syndrome 0 trials
  • Aortic dissection lentiginosis 0 trials
  • Aplasia cutis congenita-intestinal lymphangiectasia syndrome 0 trials
  • Aplasia of lacrimal and salivary glands 0 trials
  • Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
  • Arakawa syndrome 2 0 trials
  • Arena syndrome 0 trials
  • Arterial tortuosity-bone fragility syndrome 0 trials
  • Arthrogryposis IUGR thoracic dystrophy 0 trials
  • Arthrogryposis multiplex congenita CNS calcification 0 trials
  • Arthrogryposis spinal muscular atrophy 0 trials
  • Asternia 0 trials
  • Ataxia - telangiectasia variant 0 trials
  • Ataxia-photosensitivity-short stature syndrome 0 trials
  • Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
  • Atrophoderma of Pierini and Pasini 0 trials
  • Auroneurodental syndrome 0 trials
  • Autism-facial port-wine stain syndrome 0 trials
  • Autosomal dominant cataract 0 trials Sub-types →
  • Autosomal dominant chondrodysplasia punctata 0 trials Sub-types →
  • Autosomal dominant deafness - onychodystrophy syndrome 0 trials
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
  • Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0 trials
  • Autosomal recessive multiple pterygium syndrome 0 trials Sub-types →
  • Axial mesodermal dysplasia spectrum 0 trials
  • Baetz-greenwalt syndrome 0 trials
  • Bagatelle Cassidy syndrome 0 trials
  • Baker Vinters syndrome 0 trials
  • Basilar artery insufficiency 0 trials
  • Benign exophthalmos syndrome 0 trials
  • Bhaskar jagannathan syndrome 0 trials
  • Bilirubin induced brain injury in the newborn 0 trials
  • Black locks with albinism and deafness syndrome 0 trials
  • Blepharo naso facial syndrome van Maldergem type 0 trials
  • Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
  • Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome 0 trials
  • Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
  • Bobble-head doll syndrome 0 trials
  • Bone dysplasia corpus callosum agenesis 0 trials
  • Brachydactyly absence of distal phalanges 0 trials
  • Brachydactyly anonychia 0 trials
  • Brachydactyly small stature face anomalies 0 trials
  • Brachydactyly tibial hypoplasia 0 trials
  • Brachydactyly type A2 0 trials
  • Brachydactyly-arterial hypertension syndrome 0 trials
  • Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
  • Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
  • Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation 0 trials
  • Brain malformation renal syndrome 0 trials
  • Branchio-oto-renal syndrome 0 trials Sub-types →
  • Branchiootic syndrome 0 trials Sub-types →
  • Brittle bone syndrome lethal type 0 trials
  • Bronchiectasis oligospermia 0 trials
  • Bruyn scheltens syndrome 0 trials
  • Burn goodship syndrome 0 trials
  • Campomelia, Cumming type 0 trials
  • Camptodactyly joint contractures and facial skeletal dysplasia 0 trials
  • Camptodactyly vertebral fusion 0 trials
  • Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
  • Camptomelic syndrome, long-limb type 0 trials
  • Carbon baby syndrome 0 trials
  • Cardiac hydatid cysts with intracavitary expansion 0 trials
  • Cardiac, facial, and digital anomalies with developmental delay 0 trials
  • Cardiocutaneous syndrome 0 trials
  • Cardioectodermal syndrome 0 trials Sub-types →
  • Cardioencephalomyopathy 0 trials
  • Cardiofacial syndrome short limbs 0 trials
  • Cardiomelic syndrome stratton Koehler type 0 trials
  • Cardiomyopathy and deafness due to tRNA lysine gene mutation 0 trials
  • Cardiomyopathy diabetes deafness 0 trials
  • Cardiomyopathy hypogonadism collagenoma syndrome 0 trials
  • Cardiomyopathy hypogonadism metabolic anomalies 0 trials
  • Cardiomyopathy spherocytosis 0 trials
  • Cardiomyopathy-cataract-hip spine disease syndrome 0 trials
  • Carpo tarsal osteolysis recessive 0 trials
  • Cat-eye syndrome 0 trials
  • Cataract - microcornea syndrome 0 trials
  • Cataract skeletal anomalies 0 trials
  • Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 0 trials
  • Cataract-deafness-hypogonadism syndrome 0 trials
  • Cataract-glaucoma syndrome 0 trials
  • Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
  • Cataract-nephropathy-encephalopathy syndrome 0 trials
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 0 trials Sub-types →
  • Caudal duplication 0 trials
  • Caudal regression-sirenomelia spectrum 0 trials Sub-types →
  • Cennamo gangemi syndrome 0 trials
  • Central nervous system calcification-deafness-tubular acidosis-anemia syndrome 0 trials
  • Cerebellar agenesis 0 trials
  • Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 trials
  • Cerebello-olivary atrophy 0 trials
  • Cerebral calcification cerebellar hypoplasia 0 trials
  • Cerebral calcifications opalescent teeth phosphaturia 0 trials
  • Cerebrocostomandibular syndrome 0 trials
  • Childhood aortic valve stenosis 0 trials
  • Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 trials
  • Chondrodysplasia 0 trials Sub-types →
  • Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
  • Choreoacanthocytosis amyotrophic 0 trials
  • Chorioretinopathy dominant form microcephaly 0 trials
  • Chromosome 13q14 deletion syndrome 0 trials
  • Chromosome 16p12.1 deletion syndrome, 520kb 0 trials
  • Chromosome 18p deletion syndrome 0 trials
  • Chromosome 18q deletion syndrome 0 trials Sub-types →
  • Chromosome 3 duplication syndrome 0 trials
  • Chronic atrial and intestinal dysrhythmia 0 trials
  • Chronic demyelinizing neuropathy with IgM monoclonal 0 trials
  • Ciliary dyskinesia-bronchiectasis 0 trials
  • Circumscribed cutaneous aplasia of the vertex 0 trials
  • Circumscribed disseminated keratosis Jadassohn lew type 0 trials
  • Cleft lip and palate malrotation cardiopathy 0 trials
  • Cleft lip and/or palate with mucous cysts of lower 0 trials
  • Cleft lip palate dysmorphism kumar type 0 trials
  • Cleft lip palate intellectual disability corneal opacity 0 trials
  • Cleft lip palate oligodontia syndactyly pili torti 0 trials
  • Cleft lip palate pituitary deficiency 0 trials
  • Cleft lip palate-tetraphocomelia 0 trials
  • Cleft lip-retinopathy syndrome 0 trials
  • Cleft lip/palate-deafness-sacral lipoma syndrome 0 trials
  • Cleft lower lip cleft lateral canthi chorioretinal 0 trials
  • Cleft palate cardiac defect ectrodactyly 0 trials
  • Cleft palate colobomata radial synostosis deafness 0 trials
  • Cleft palate heart disease polydactyly absent tibia 0 trials
  • Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials Sub-types →
  • Cleft tongue 0 trials
  • Cleidorhizomelic syndrome 0 trials
  • Cloacal exstrophy 0 trials
  • Coarse face hypotonia constipation 0 trials
  • Cochleosaccular degeneration-cataract syndrome 0 trials
  • Coloboma porencephaly hydronephrosis 0 trials
  • Colobomata unilobar lung heart defect 0 trials
  • Colobomatous macrophthalmia-microcornea syndrome 0 trials
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
  • Colonic malakoplakia 0 trials
  • Complement receptor deficiency 0 trials
  • Congenital absence of the sternocleidomastoid muscle 0 trials
  • Congenital acardia 0 trials Sub-types →
  • Congenital aneurysms of the great vessels 0 trials
  • Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome 0 trials
  • Congenital articular rigidity 0 trials
  • Congenital benign spinal muscular atrophy dominant 0 trials
  • Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 0 trials
  • Congenital cataract-ichthyosis syndrome 0 trials
  • Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 0 trials
  • Congenital contractures 0 trials
  • Congenital craniosynostosis maternal hyperthyroiditis 0 trials
  • Congenital cystic eye 0 trials Sub-types →
  • Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
  • Congenital heart disease ptosis hypodontia craniostosis 0 trials
  • Congenital heart disease radio ulnar synostosis intellectual disability 0 trials
  • Congenital hereditary facial paralysis-variable hearing loss syndrome 0 trials Sub-types →
  • Congenital ichthyosis-microcephalus-tetraplegia syndrome 0 trials
  • Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
  • Congenital laryngeal web 0 trials
  • Congenital mumps 0 trials
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 trials
  • Congenital stenosis of cervical medullary canal 0 trials
  • Congenital unilateral pulmonary hypoplasia 0 trials
  • Congenital vagal hyperreflexivity 0 trials
  • Congenital varicella syndrome 0 trials
  • Corneal crystals myopathy neuropathy 0 trials
  • Corneal dystrophy ichthyosis microcephaly intellectual disability 0 trials
  • Corneal dystrophy pigmentary anomaly malabsorption 0 trials
  • Corneal dystrophy-perceptive deafness syndrome 0 trials
  • Corneal-cerebellar syndrome 0 trials
  • Corpus callosum agenesis of blepharophimosis robin type 0 trials
  • Corpus callosum agenesis-abnormal genitalia syndrome 0 trials
  • Corpus callosum agenesis-double urinary collecting system syndrome 0 trials
  • Corpus callosum dysgenesis X-linked recessive 0 trials
  • Corpus callosum dysgenesis cleft spasm 0 trials
  • Corpus callosum dysgenesis hypopituitarism 0 trials
  • Cortada Koussef Matsumoto syndrome 0 trials
  • Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
  • Cortical dysplasia-focal epilepsy syndrome 0 trials
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0 trials Sub-types →
  • Craniofacial dysostosis arthrogryposis progeroid appearance 0 trials
  • Craniofaciocardiohepatic syndrome 0 trials
  • Craniofrontonasal syndrome Teebi type 0 trials
  • Craniostenosis with congenital heart disease intellectual disability 0 trials
  • Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome 0 trials
  • Craniosynostosis-scoliosis syndrome 0 trials
  • Crawfurd syndrome 0 trials
  • Cutis gyratum acanthosis nigricans craniosynostosis 0 trials
  • Cutis laxa osteoporosis 0 trials
  • Cystic fibrosis-gastritis-megaloblastic anemia syndrome 0 trials
  • De Hauwere Leroy adriaenssens syndrome 0 trials
  • De Sanctis-Cacchione syndrome 0 trials
  • Deafness conductive stapedial ear malformation facial palsy 0 trials
  • Deafness goiter stippled epiphyses 0 trials
  • Deafness hypospadias metacarpal and metatarsal syndrome 0 trials
  • Deafness mesenteric diverticula of small bowel neuropathy 0 trials
  • Deafness peripheral neuropathy arterial disease 0 trials
  • Deafness progressive cataract autosomal dominant 0 trials
  • Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
  • Deafness-hypogonadism syndrome 0 trials
  • Deafness-intellectual disability, Martin-Probst type syndrome 0 trials
  • Dermatocardioskeletal syndrome boronne type 0 trials
  • Dermochondrocorneal dystrophy 0 trials
  • Developmental and speech delay due to SOX5 deficiency 0 trials
  • Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome 0 trials
  • Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome 0 trials
  • Dextrocardia with situs inversus 0 trials
  • Diabetes persistent mullerian ducts 0 trials
  • Diabetes, deafness, developmental delay, and short stature syndrome 0 trials
  • Diaphragmatic agenesis radial aplasia omphalocele 0 trials
  • Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
  • Diaphragmatic hernia exomphalos corpus callosum agenesis 0 trials
  • Diaphragmatic hernia upper limb defects 0 trials
  • Diaphragmatic hernia-short bowel-asplenia syndrome 0 trials
  • Die Smulders droog van dijk syndrome 0 trials
  • Diencephalic syndrome 0 trials
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 trials
  • Diffuse infiltrative lymphocytosis syndrome 0 trials
  • Digital anomalies-intellectual disability-short stature syndrome 0 trials
  • Dilated cardiomyopathy 1E 0 trials
  • Diomedi bernardi placidi syndrome 0 trials
  • Diphallus rachischisis imperforate anus 0 trials
  • Distal monosomy 13q 0 trials
  • Distal trisomy 14q 0 trials
  • Distichiasis heart congenital anomalies 0 trials
  • Diverticulosis of bowel, hernia, and retinal detachment 0 trials
  • Double discordia 0 trials
  • Double uterus-hemivagina-renal agenesis 0 trials
  • Double uterus-hemivagina-renal agenesis syndrome 0 trials
  • Duodenal atresia tetralogy of fallot 0 trials
  • Duplication of leg mirror foot 0 trials
  • Duplication of the thumb unilateral biphalangeal 0 trials
  • Dupont sellier chochillon syndrome 0 trials
  • Dwarfism bluish sclerae 0 trials
  • Dwarfism deafness retinitis pigmentosa 0 trials
  • Dwarfism lethal type advanced bone age 0 trials
  • Dwarfism thin bones multiple fractures 0 trials
  • Dyschondrosteosis-nephritis syndrome 0 trials
  • Dyschromatosis, ichthyosis, deafness, and atopic disease 0 trials
  • Dysmorphism cleft palate loose skin 0 trials
  • Dyssegmental dysplasia-glaucoma syndrome 0 trials
  • Dystonia-aphonia syndrome 0 trials
  • Early-onset obesity-hyperphagia-severe developmental delay syndrome 0 trials
  • Ectrodactyly cardiopathy dysmorphism 0 trials
  • Ectrodactyly-polydactyly syndrome 0 trials
  • Empty sella syndrome 0 trials
  • Enamel hypoplasia cataract hydrocephaly 0 trials
  • Encephalocele anencephaly 0 trials
  • Encephalopathy, recurrent, of childhood 0 trials
  • Enchondromatosis dwarfism deafness 0 trials
  • Epidermal nevus vitamin D resistant rickets 0 trials
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
  • Epimetaphyseal dysplasia cataract 0 trials
  • Epiphyseal dysplasia dysmorphism camptodactyly 0 trials
  • Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
  • Ermine phenotype 0 trials
  • Esophageal atresia coloboma talipes 0 trials
  • Estrogen resistance syndrome 0 trials
  • Euthyroid sick syndrome 0 trials
  • Even-plus syndrome 0 trials
  • Extrasystoles short stature hyperpigmentation microcephaly 0 trials
  • Eyebrow duplication-syndactyly syndrome 0 trials
  • Facial clefting corpus callosum agenesis 0 trials
  • Facio digito genital syndrome recessive form 0 trials
  • Facio skeletal genital syndrome rippberger type 0 trials
  • Faciodigitogenital syndrome 0 trials Sub-types →
  • Familial capillaro-venous leptomeningeal angiomatosis 0 trials
  • Familial episodic pain syndrome with predominantly lower limb involvement 0 trials
  • Familial infantile bilateral striatal necrosis 0 trials Sub-types →
  • Familial intestinal malrotation-facial anomalies syndrome 0 trials
  • Familial osteodysplasia, Anderson type 0 trials
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
  • Feigenbaum Bergeron syndrome 0 trials
  • Ferro-cerebro-cutaneous syndrome 0 trials
  • Fetal akinesia deformation sequence 0 trials Sub-types →
  • Fetal brain disruption sequence 0 trials
  • Fetal enterovirus syndrome 0 trials
  • Fetal hydantoin syndrome 0 trials
  • Fetal parainfluenza virus type 3 syndrome 0 trials
  • Fetal phenothiazine syndrome 0 trials
  • Fetal valproate syndrome 0 trials
  • Fibrogenesis imperfecta ossium 0 trials
  • Fibromatosis multiple non ossifying 0 trials
  • Fibrosis, neurodegeneration, and cerebral angiomatosis 0 trials
  • Fibula aplasia complex brachydactyly 0 trials
  • Fibular aplasia-ectrodactyly syndrome 0 trials
  • Fibular hypoplasia scapulo pelvic dysplasia absent 0 trials
  • Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 0 trials
  • Focal alopecia congenital megalencephaly 0 trials
  • Focal or multifocal malformations in neuronal migration 0 trials
  • Foix chavany Marie syndrome 0 trials
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
  • Fragile X-associated tremor/ataxia syndrome 0 trials
  • Frontofacionasal dysplasia 0 trials
  • Frontonasal dysplasia Klippel feil syndrome 0 trials
  • Frontonasal dysplasia phocomelic upper limbs 0 trials
  • Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 0 trials
  • Frontonasal malformation cloacal exstrophy 0 trials
  • Genitopatellar syndrome 0 trials
  • Gershinibaruch Leibo syndrome 0 trials
  • Gigantism advanced bone age hoarse cry 0 trials
  • Gingival fibromatosis-facial dysmorphism syndrome 0 trials
  • Glaucoma-sleep apnea syndrome 0 trials
  • Global developmental delay-osteopenia-ectodermal defect syndrome 0 trials
  • Glossopalatine ankylosis micrognathia ear anomalies 0 trials
  • Goldstein hutt syndrome 0 trials
  • Goniodysgenesis intellectual disability short stature 0 trials
  • Gray platelet syndrome 0 trials
  • Green sandford davison syndrome 0 trials
  • Grix Blankenship Peterson syndrome 0 trials
  • Growth delay-hydrocephaly-lung hypoplasia syndrome 0 trials
  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 trials
  • Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
  • Hair defect with photosensitivity and intellectual disability syndrome 0 trials
  • Hand-foot-genital syndrome 0 trials
  • Hearing impairment and infertile male syndrome 0 trials
  • Hearing loss-familial salivary gland insensitivity to aldosterone syndrome 0 trials
  • Heart-hand syndrome 0 trials Sub-types →
  • Hepatic fibrosis-renal cysts-intellectual disability syndrome 0 trials
  • Hereditary benign intraepithelial dyskeratosis 0 trials
  • Hereditary continuous muscle fiber activity 0 trials
  • Hereditary persistence of fetal hemoglobin-intellectual disability syndrome 0 trials
  • Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0 trials
  • Hereditary sensory and autonomic neuropathy with deafness and global delay 0 trials
  • High myopia-sensorineural deafness syndrome 0 trials
  • Holoprosencephaly 0 trials Sub-types →
  • Holoprosencephaly-postaxial polydactyly syndrome 0 trials
  • Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
  • Hydrocephalus-obesity-hypogonadism syndrome 0 trials
  • Hydrocephaly-cerebellar agenesis syndrome 0 trials
  • Hypergonadotropic hypogonadism-cataract syndrome 0 trials
  • Hypertrichotic osteochondrodysplasia Cantu type 0 trials
  • Hypogonadism-mitral valve prolapse-intellectual disability syndrome 0 trials
  • Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 0 trials
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
  • Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 trials
  • Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
  • Hypotonia-cystinuria syndrome 0 trials Sub-types →
  • Hypotrichosis-deafness syndrome 0 trials
  • Hypotrichosis-intellectual disability, Lopes type 0 trials
  • Hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 0 trials Sub-types →
  • Ichthyosis linearis circumflexa 0 trials
  • Ichthyosis-cheek-eyebrow syndrome 0 trials
  • Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0 trials
  • Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0 trials
  • Ichthyosis-oral and digital anomalies syndrome 0 trials
  • Immune dysregulation, neurodevelopmental defects, and colitis 0 trials
  • Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
  • Infantile choroidocerebral calcification syndrome 0 trials
  • Infantile convulsions and choreoathetosis 0 trials
  • Infantile striato thalamic degeneration 0 trials
  • Infundibulopelvic stenosis-multicystic kidney syndrome 0 trials
  • Intellectual disability, autosomal dominant 29 0 trials
  • Intellectual disability, autosomal dominant 30 0 trials
  • Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 0 trials
  • Intellectual disability-cataracts-kyphosis syndrome 0 trials
  • Intellectual disability-epilepsy-extrapyramidal syndrome 0 trials
  • Intellectual disability-hypotonia-skin hyperpigmentation syndrome 0 trials
  • Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 0 trials
  • Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 0 trials
  • Intellectual disability-strabismus syndrome 0 trials
  • Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 0 trials
  • Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 0 trials
  • Ischio-vertebral syndrome 0 trials
  • Isotretinoin syndrome 0 trials
  • Joint laxity, short stature, and myopia 0 trials
  • Keratosis follicularis-dwarfism-cerebral atrophy syndrome 0 trials
  • Laryngeal abductor paralysis-intellectual disability syndrome 0 trials
  • Laryngo-onycho-cutaneous syndrome 0 trials
  • Lateral medullary syndrome 0 trials
  • Le Marec-Bracq-Picaud syndrome 0 trials
  • Lethal congenital contracture syndrome 1 0 trials
  • Lethal hemolytic anemia-genital anomalies syndrome 0 trials
  • Lethal multiple pterygium syndrome 0 trials Sub-types →
  • Limb body wall complex 0 trials
  • Linkeropathy 0 trials Sub-types →
  • Loin pain hematuria syndrome 0 trials
  • Lower limb deficiency-hypospadias syndrome 0 trials
  • Lung agenesis-heart defect-thumb anomalies syndrome 0 trials
  • Lymphedema-atrial septal defects-facial changes syndrome 0 trials
  • Lymphedema-cerebral arteriovenous anomaly syndrome 0 trials
  • Lymphedema-distichiasis syndrome 0 trials
  • Macrocephaly-short stature-paraplegia syndrome 0 trials
  • Macrogyria, pseudobulbar palsy and intellectual disability 0 trials
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
  • Mandibulofacial dysostosis with alopecia 0 trials
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 0 trials Sub-types →
  • Megalencephaly-polydactyly syndrome 0 trials
  • Merlob grunebaum reisner syndrome 0 trials
  • Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
  • Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 trials
  • Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0 trials
  • Methimazole embryofetopathy 0 trials
  • Microcephalic primordial dwarfism due to RTTN deficiency 0 trials Sub-types →
  • Microcephalic primordial dwarfism, Alazami type 0 trials
  • Microcephalic primordial dwarfism, Toriello type 0 trials
  • Microcephaly and chorioretinopathy 1 0 trials
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
  • Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
  • Microcephaly-brain defect-spasticity-hypernatremia syndrome 0 trials
  • Microcephaly-capillary malformation syndrome 0 trials
  • Microcephaly-complex motor and sensory axonal neuropathy syndrome 0 trials
  • Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 0 trials
  • Microcephaly-microcornea syndrome, Seemanova type 0 trials
  • Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 0 trials
  • Microgastria-limb reduction defect syndrome 0 trials
  • Microlissencephaly-micromelia syndrome 0 trials
  • Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 0 trials
  • Mirror polydactyly-vertebral segmentation-limbs defects syndrome 0 trials
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 trials
  • Monosomy 13q34 0 trials
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect 0 trials Sub-types →
  • Mulibrey nanism 0 trials
  • Mullerian derivatives-lymphangiectasia-polydactyly syndrome 0 trials
  • Mullerian duct anomalies-limb anomalies syndrome 0 trials
  • Multicentric osteolysis, nodulosis, and arthropathy 0 trials
  • Multicentric reticulohistiocytosis 0 trials
  • Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 trials
  • Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 0 trials
  • Multiple synostoses syndrome 0 trials Sub-types →
  • Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0 trials
  • Muscular fibrosis multifocal obstructed vessels 0 trials
  • Muscular pseudohypertrophy-hypothyroidism syndrome 0 trials
  • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 0 trials
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 0 trials
  • Myopathy-growth delay-intellectual disability-hypospadias syndrome 0 trials
  • Nasopalpebral lipoma-coloboma syndrome 0 trials
  • Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts 0 trials
  • Neonatal ichthyosis-sclerosing cholangitis syndrome 0 trials
  • Nephrogenic diabetes insipidus-intracranial calcification syndrome 0 trials
  • Nephropathy - deafness - hyperparathyroidism syndrome 0 trials
  • Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 trials
  • Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 trials
  • Neurodevelopmental disorder with variable familial hypercholanemia 0 trials
  • Nodular neuronal heterotopia 0 trials Sub-types →
  • Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 0 trials
  • Oculo digital syndrome 0 trials
  • Oculo-skeletal-renal syndrome 0 trials
  • Oculocerebrodental syndrome 0 trials
  • Oculocerebrofacial syndrome, Kaufman type 0 trials
  • Oculodental syndrome, Rutherfurd type 0 trials
  • Oculogastrointestinal-neurodevelopmental syndrome 0 trials
  • Oculomaxillofacial dysostosis 0 trials Sub-types →
  • Oculovertebral syndrome 0 trials
  • Olivopontocerebellar atrophy-deafness syndrome 0 trials
  • Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
  • Oromandibular-limb anomalies syndrome 0 trials Sub-types →
  • Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
  • Osteopenia-intellectual disability-sparse hair syndrome 0 trials
  • Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 0 trials
  • Osteoporosis-pseudoglioma syndrome 0 trials
  • Osteosclerosis-ichthyosis-premature ovarian failure syndrome 0 trials
  • Otopalatodigital syndrome type 1 0 trials
  • Painful legs and moving toes syndrome 0 trials
  • Palmoplantar keratoderma-esophageal carcinoma syndrome 0 trials
  • Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 0 trials Sub-types →
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 trials
  • Paraplegia-intellectual disability-hyperkeratosis syndrome 0 trials
  • Parkinsonism-dystonia, infantile 0 trials Sub-types →
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
  • Pentasomy X 0 trials
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 trials
  • Pfeiffer rockelein syndrome 0 trials
  • Phosphoribosylpyrophosphate synthetase deficiency 0 trials
  • Piepkorn karp hickok syndrome 0 trials
  • Pili torti-developmental delay-neurological abnormalities syndrome 0 trials
  • Podder-tolmie syndrome 0 trials
  • Pointer syndrome 0 trials
  • Polydactyly-macrocephaly syndrome 0 trials
  • Polyendocrine-polyneuropathy syndrome 0 trials
  • Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 0 trials
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
  • Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
  • Primary hypergonadotropic hypogonadism-partial alopecia syndrome 0 trials
  • Primary hypertrophic osteoarthropathy 0 trials Sub-types →
  • Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome 0 trials
  • Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 0 trials
  • Progeria-short stature-pigmented nevi syndrome 0 trials
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
  • Prostatic malacoplakia associated with prostatic abscess 0 trials
  • Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 0 trials
  • Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 0 trials
  • Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome 0 trials
  • Ptosis-strabismus-ectopic pupils syndrome 0 trials
  • Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 0 trials
  • Ptosis-vocal cord paralysis syndrome 0 trials
  • Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome 0 trials
  • Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
  • Radial ray hypoplasia-choanal atresia syndrome 0 trials
  • Radio-digito-facial dysplasia 0 trials
  • Radioulnar synostosis-microcephaly-scoliosis syndrome 0 trials
  • Ragopathy 0 trials
  • Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 0 trials
  • Renal caliceal diverticuli-deafness syndrome 0 trials
  • Renal coloboma syndrome 0 trials
  • Renal cysts and diabetes syndrome 0 trials
  • Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 0 trials
  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
  • Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 0 trials
  • Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 0 trials
  • Richieri-costa guion-almeida cohen syndrome 0 trials
  • Ring chromosome 10 0 trials
  • Ring chromosome 13 0 trials
  • Ruvalcaba churesigaew myhre syndrome 0 trials
  • Scalp defects-postaxial polydactyly syndrome 0 trials
  • Schisis association 0 trials
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 trials
  • Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
  • Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
  • Shone complex 0 trials
  • Short fifth metacarpals-insulin resistance syndrome 0 trials
  • Short limb dwarf lethal colavita kozlowski type 0 trials
  • Short stature contractures hypotonia 0 trials
  • Short stature, microcephaly, and endocrine dysfunction 0 trials
  • Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 0 trials
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 trials
  • Shoulder and girdle defects-familial intellectual disability syndrome 0 trials
  • Sickle cell-hemoglobin E disease syndrome 0 trials
  • Sickle cell-hemoglobin d disease syndrome 0 trials
  • Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 trials
  • Spastic ataxia-corneal dystrophy syndrome 0 trials
  • Spastic paraparesis-cataracts-speech delay syndrome 0 trials
  • Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0 trials
  • Spina bifida-hypospadias syndrome 0 trials
  • Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
  • Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
  • Subaortic stenosis-short stature syndrome 0 trials
  • Subcortical band heterotopia 0 trials Sub-types →
  • Syndactyly-polydactyly-ear lobe syndrome 0 trials
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
  • Syndromic congenital sodium diarrhea 0 trials
  • Syndromic microspherophakia 0 trials
  • Syndromic orbital border hypoplasia 0 trials
  • Syngnathia multiple anomalies 0 trials
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 trials
  • Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 0 trials
  • Tempi syndrome 0 trials
  • Temtamy preaxial brachydactyly syndrome 0 trials
  • Tetrasomy 12p 0 trials
  • Thickened earlobes with conductive deafness from incus-stapes abnormalities 0 trials
  • Thoraco-abdominal enteric duplication 0 trials
  • Thyrocerebrorenal syndrome 0 trials
  • Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0 trials
  • Trigeminal trophic syndrome 0 trials
  • Trigonocephaly-short stature-developmental delay syndrome 0 trials
  • Tubular renal disease-cardiomyopathy syndrome 0 trials
  • Tubulointerstitial nephritis and uveitis syndrome 0 trials
  • Ulnar hypoplasia-split foot syndrome 0 trials
  • Ulnar-mammary syndrome 0 trials
  • Umbilical cord ulceration-intestinal atresia syndrome 0 trials
  • Van den Bosch syndrome 0 trials
  • Vitamin K-antagonist embryofetopathy 0 trials
  • Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 0 trials
  • Weinstein kliman scully syndrome 0 trials
  • White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 0 trials
  • Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 0 trials
  • Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 trials
  • Yellow nail syndrome 0 trials
• Urinary system disorder 72 trials · 5,523 incl. sub-types
  20 sub-types

  • Kidney disorder 223 trials · 4,032 incl. sub-types Sub-types →
  • Urinary system neoplasm 21 trials · 1,690 incl. sub-types Sub-types →
  • Urinary bladder disorder 24 trials · 1,152 incl. sub-types Sub-types →
  • Urolithiasis 119 trials · 312 incl. sub-types Sub-types →
  • Urinary tract infection 156 trials · 250 incl. sub-types Sub-types →
  • Ureteral disorder 2 trials · 95 incl. sub-types Sub-types →
  • Urethral disorder 1 trial · 70 incl. sub-types Sub-types →
  • Urinary tract obstruction 12 trials · 27 incl. sub-types Sub-types →
  • Bacteriuria 11 trials
  • Idiopathic hypercalciuria 3 trials
  • Paraneoplastic renal syndrome 0 trials · 3 incl. sub-types Sub-types →
  • Congenital urachal anomaly 0 trials Sub-types →
  • Hypercalciuria, absorptive, 1 0 trials
  • Hypercalciuria, absorptive, 2 0 trials
  • Hyperglycinuria 0 trials
  • Megacystis-megaureter syndrome 0 trials
  • Meningitis-retention syndrome 0 trials
  • Postorgasmic illness syndrome 0 trials
  • Pyuria 0 trials
  • Urothelial hyperplasia 0 trials Sub-types →
• Breast disorder 25 trials · 4,686 incl. sub-types
  15 sub-types

  • Breast neoplasm 3,261 trials · 4,628 incl. sub-types Sub-types →
  • Lactation disease 18 trials · 24 incl. sub-types Sub-types →
  • Hypertrophy of breast 7 trials · 15 incl. sub-types Sub-types →
  • Mastitis 11 trials Sub-types →
  • Breast fibrocystic disease 7 trials · 10 incl. sub-types Sub-types →
  • Breast implant illness 8 trials
  • Breast abscess 5 trials
  • Familial juvenile hypertrophy of the breast 4 trials
  • Syndromic breast hypoplasia/aplasia 0 trials · 2 incl. sub-types Sub-types →
  • Breast adenosis 0 trials · 1 incl. sub-types Sub-types →
  • Isolated congenital breast hypoplasia/aplasia 0 trials · 1 incl. sub-types Sub-types →
  • Benign mammary dysplasia 0 trials
  • Breast angiomatosis 0 trials
  • Fat necrosis of breast 0 trials
  • Supernumerary breasts 0 trials Sub-types →
• Connective tissue disorder 70 trials · 4,637 incl. sub-types
  16 sub-types

  • Connective tissue neoplasm 1 trial · 2,404 incl. sub-types Sub-types →
  • Rheumatic disorder 90 trials · 1,792 incl. sub-types Sub-types →
  • Hereditary disorder of connective tissue 0 trials · 1,311 incl. sub-types Sub-types →
  • Disease of the tendon 126 trials · 192 incl. sub-types Sub-types →
  • Benign connective and soft tissue neoplasm 0 trials · 101 incl. sub-types Sub-types →
  • Fasciitis 7 trials · 97 incl. sub-types Sub-types →
  • Collagenopathy 3 trials · 42 incl. sub-types Sub-types →
  • Interstitial cystitis 39 trials
  • Periostitis 0 trials · 16 incl. sub-types Sub-types →
  • Overlapping connective tissue disease 2 trials · 15 incl. sub-types Sub-types →
  • Synovitis 15 trials Sub-types →
  • Panniculitis 3 trials · 6 incl. sub-types Sub-types →
  • Enthesopathy 2 trials · 4 incl. sub-types Sub-types →
  • Ochronosis disorder 1 trial Sub-types →
  • Ainhum 0 trials
  • Interstitial keratitis 0 trials Sub-types →
• Integumentary system disorder 0 trials · 4,553 incl. sub-types
  36 sub-types

  • Skin disorder 138 trials · 3,961 incl. sub-types Sub-types →
  • Integumentary system cancer 0 trials · 1,084 incl. sub-types Sub-types →
  • Disorder of pilosebaceous unit 7 trials · 340 incl. sub-types Sub-types →
  • Skin appendage disorder 0 trials · 244 incl. sub-types Sub-types →
  • Integumentary system benign neoplasm 0 trials · 120 incl. sub-types Sub-types →
  • Cutaneous mycosis 1 trial · 118 incl. sub-types Sub-types →
  • Subcutaneous tissue disorder 0 trials · 64 incl. sub-types Sub-types →
  • Cutis laxa 37 trials · 39 incl. sub-types Sub-types →
  • X-linked ichthyosis syndrome 0 trials · 37 incl. sub-types Sub-types →
  • Keratinization disease 1 trial · 31 incl. sub-types Sub-types →
  • Nail disorder 2 trials · 18 incl. sub-types Sub-types →
  • Pseudoxanthoma elasticum (inherited or acquired) 5 trials · 7 incl. sub-types Sub-types →
  • Demodicidosis 5 trials · 6 incl. sub-types Sub-types →
  • Panniculitis 3 trials · 6 incl. sub-types Sub-types →
  • Mucosulfatidosis 4 trials
  • Sjogren-Larsson syndrome 3 trials
  • Familial atypical multiple mole melanoma syndrome 3 trials Sub-types →
  • Breast fibrosis 2 trials
  • Bartholin gland neoplasm 0 trials · 1 incl. sub-types Sub-types →
  • Rombo syndrome 1 trial
  • Familial tumoral calcinosis 1 trial Sub-types →
  • Ichthyosis prematurity syndrome 1 trial
  • ANE syndrome 0 trials
  • Bartholin duct cyst 0 trials
  • Neu-Laxova syndrome 0 trials Sub-types →
  • Proteus-like syndrome 0 trials
  • Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
  • Autosomal dominant deafness - onychodystrophy syndrome 0 trials
  • Benign mammary dysplasia 0 trials
  • Breast mucosa-associated lymphoid tissue lymphoma 0 trials
  • Frontonasal dysplasia with alopecia and genital anomaly 0 trials
  • Keratoderma hereditarium mutilans 0 trials
  • Mandibulofacial dysostosis with alopecia 0 trials
  • Nipple neoplasm 0 trials Sub-types →
  • Paraneoplastic cutaneous syndrome 0 trials Sub-types →
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
• Disorder of visual system 1 trial · 3,476 incl. sub-types
  30 sub-types

  • Eye disorder 104 trials · 3,068 incl. sub-types Sub-types →
  • Vision disorder 105 trials · 382 incl. sub-types Sub-types →
  • Optic nerve disorder 23 trials · 95 incl. sub-types Sub-types →
  • Oculomotor nerve paralysis 1 trial · 86 incl. sub-types Sub-types →
  • Kearns-Sayre syndrome 5 trials
  • Myopathy of extraocular muscle 1 trial · 5 incl. sub-types Sub-types →
  • Jaw-winking syndrome 2 trials Sub-types →
  • Ocular albinism 1 trial · 2 incl. sub-types Sub-types →
  • EEC syndrome 1 trial Sub-types →
  • Joubert syndrome with oculorenal defect 1 trial Sub-types →
  • RHYNS syndrome 1 trial
  • CHIME syndrome 0 trials
  • Joubert syndrome with ocular defect 0 trials Sub-types →
  • Mietens syndrome 0 trials
  • Stern-Lubinsky-Durrie syndrome 0 trials
  • Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
  • Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
  • Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
  • Cataract-glaucoma syndrome 0 trials
  • Colobomatous macrophthalmia-microcornea syndrome 0 trials
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
  • Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
  • Intellectual disability-strabismus syndrome 0 trials
  • Maternally-inherited progressive external ophthalmoplegia 0 trials
  • Microcephaly-microcornea syndrome, Seemanova type 0 trials
  • Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 0 trials
  • Oculogastrointestinal muscular dystrophy 0 trials
  • Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
  • Spastic ataxia-corneal dystrophy syndrome 0 trials
• Disorder of orbital region 3 trials · 3,149 incl. sub-types
  4 sub-types

  • Eye disorder 104 trials · 3,068 incl. sub-types Sub-types →
  • Eye adnexa disorder 0 trials · 600 incl. sub-types Sub-types →
  • Orbit neoplasm 0 trials · 2 incl. sub-types Sub-types →
  • Orbital dermoid cyst 0 trials
• Mouth disorder 21 trials · 1,910 incl. sub-types
  27 sub-types

  • Tooth disorder 37 trials · 890 incl. sub-types Sub-types →
  • Mouth mucosa disorder 4 trials · 476 incl. sub-types Sub-types →
  • Oral cavity neoplasm 13 trials · 296 incl. sub-types Sub-types →
  • Salivary gland disorder 4 trials · 255 incl. sub-types Sub-types →
  • Tongue disorder 2 trials · 52 incl. sub-types Sub-types →
  • Lichen planus, oral 30 trials
  • Adenoid hypertrophy 22 trials
  • Lip disorder 0 trials · 20 incl. sub-types Sub-types →
  • Alveolar periostitis 16 trials
  • Burning mouth syndrome 9 trials Sub-types →
  • Neoplasm of jaw 1 trial · 9 incl. sub-types Sub-types →
  • Maxillary sinusitis 5 trials · 7 incl. sub-types Sub-types →
  • Osteoradionecrosis of the mandible 5 trials
  • Oral candidiasis 4 trials
  • Oral submucous fibrosis 4 trials
  • Neoplasm of floor of mouth 0 trials · 2 incl. sub-types Sub-types →
  • Florid cemento-osseous dysplasia 1 trial
  • Ludwig's angina 0 trials
  • Commissural lip fistula 0 trials
  • Maxillary sinus cholesteatoma 0 trials
  • Odontoma 0 trials
  • Oral Crohn disease 0 trials
  • Oral hairy leukoplakia 0 trials
  • Oral leukoedema 0 trials
  • Oral tuberculosis 0 trials
  • Polyp of maxillary sinus 0 trials
  • Uvulitis 0 trials
• Otorhinolaryngologic disease 15 trials · 1,319 incl. sub-types
  40 sub-types

  • Disorder of pharynx 3 trials · 596 incl. sub-types Sub-types →
  • Nasal disorder 3 trials · 372 incl. sub-types Sub-types →
  • Disorder of ear 8 trials · 254 incl. sub-types Sub-types →
  • Lip and oral cavity squamous cell carcinoma 21 trials · 157 incl. sub-types Sub-types →
  • Hereditary otorhinolaryngologic disease 0 trials · 102 incl. sub-types Sub-types →
  • Idiopathic bilateral vestibulopathy 14 trials
  • Laryngeal abductor paralysis 10 trials
  • Recurrent respiratory papillomatosis 8 trials · 9 incl. sub-types Sub-types →
  • Microtia 8 trials Sub-types →
  • Congenital tracheomalacia 6 trials
  • Congenital velopharyngeal incompetence 6 trials
  • Autoimmune disease of ear, nose and throat 0 trials · 4 incl. sub-types Sub-types →
  • Cysts and fistulae of the face and oral cavity 0 trials · 3 incl. sub-types Sub-types →
  • Semicircular canal dehiscence syndrome 3 trials
  • Mal de Debarquement 2 trials
  • Anotia 1 trial
  • Bifid nose 0 trials · 1 incl. sub-types Sub-types →
  • Juvenile nasopharyngeal angiofibroma 1 trial
  • Arrhinia 0 trials
  • Atresia of external auditory canal and conductive deafness 0 trials
  • Congenital nasal pyriform aperture stenosis with holoprosencephaly 0 trials
  • Congenital tracheal stenosis 0 trials
  • Epignathus 0 trials
  • External auditory canal atresia-vertical talus-hypertelorism syndrome 0 trials
  • Isolated congenital nasal pyriform aperture stenosis 0 trials
  • Isolated congenital syngnathia 0 trials
  • Laryngeal neuroendocrine neoplasm 0 trials Sub-types →
  • Laryngotracheal angioma 0 trials
  • Larynx atresia 0 trials
  • Middle ear anomaly 0 trials Sub-types →
  • Nasal encephalocele 0 trials
  • Nasal ganglioglioma 0 trials
  • Nasal glial heterotopia 0 trials
  • Nasolacrimal duct cyst 0 trials
  • Polyrrhinia 0 trials
  • Proboscis lateralis 0 trials
  • Silent sinus syndrome 0 trials
  • Supernumerary nostril 0 trials
  • Supratip dysplasia 0 trials
  • Tracheal agenesis 0 trials
• Auditory system disorder 0 trials · 705 incl. sub-types
  11 sub-types

  • Hearing disorder 24 trials · 529 incl. sub-types Sub-types →
  • Inner ear disorder 8 trials · 149 incl. sub-types Sub-types →
  • Inherited auditory system disease 0 trials · 120 incl. sub-types Sub-types →
  • Middle ear disorder 3 trials · 75 incl. sub-types Sub-types →
  • Retrocochlear disease 3 trials · 14 incl. sub-types Sub-types →
  • External ear disorder 0 trials · 13 incl. sub-types Sub-types →
  • Auditory system cancer 0 trials · 2 incl. sub-types Sub-types →
  • Discharging ear 2 trials
  • Adhesive otitis media 0 trials
  • Auditory system benign neoplasm 0 trials
  • Dislocation of ear ossicle 0 trials