Disease of genetic or genomic mechanism

Part of

Sub-types of Disease of genetic or genomic mechanism

• Hereditary disease 193 trials · 18,187 incl. sub-types
  1,925 sub-types

  • Hereditary neurological disease 6 trials · 5,772 incl. sub-types Sub-types →
  • Inborn errors of metabolism 48 trials · 2,228 incl. sub-types Sub-types →
  • Autosomal genetic disease 0 trials · 1,665 incl. sub-types Sub-types →
  • Hereditary disorder of connective tissue 0 trials · 1,311 incl. sub-types Sub-types →
  • Inflammatory bowel disease 429 trials · 1,079 incl. sub-types Sub-types →
  • Hereditary skin disorder 7 trials · 880 incl. sub-types Sub-types →
  • Immunodeficiency disease 55 trials · 776 incl. sub-types Sub-types →
  • Hereditary neoplastic syndrome 60 trials · 731 incl. sub-types Sub-types →
  • Skeletal dysplasia 1 trial · 660 incl. sub-types Sub-types →
  • Cardiogenetic disease 3 trials · 614 incl. sub-types Sub-types →
  • Inherited hemoglobinopathy 38 trials · 439 incl. sub-types Sub-types →
  • COPD, severe early onset 405 trials
  • Hereditary skeletal muscle disorder 1 trial · 404 incl. sub-types Sub-types →
  • X-linked disease 18 trials · 323 incl. sub-types Sub-types →
  • Hereditary dementia 2 trials · 322 incl. sub-types Sub-types →
  • Inherited blood coagulation disorder 8 trials · 321 incl. sub-types Sub-types →
  • Inherited kidney disorder 1 trial · 317 incl. sub-types Sub-types →
  • Cataract 294 trials · 305 incl. sub-types Sub-types →
  • Myopia 258 trials · 273 incl. sub-types Sub-types →
  • Preeclampsia 232 trials · 236 incl. sub-types Sub-types →
  • Burkitt lymphoma 220 trials Sub-types →
  • Gastroesophageal reflux disease 217 trials Sub-types →
  • Intervertebral disk degenerative disorder 122 trials · 216 incl. sub-types Sub-types →
  • Polycystic ovary syndrome 200 trials
  • Classic Hodgkin lymphoma 147 trials · 149 incl. sub-types Sub-types →
  • Ewing sarcoma 124 trials · 125 incl. sub-types Sub-types →
  • Inherited auditory system disease 0 trials · 120 incl. sub-types Sub-types →
  • Bronchiectasis 118 trials · 119 incl. sub-types Sub-types →
  • Hereditary otorhinolaryngologic disease 0 trials · 102 incl. sub-types Sub-types →
  • Osteonecrosis of genetic origin 0 trials · 102 incl. sub-types Sub-types →
  • RASopathy 9 trials · 100 incl. sub-types Sub-types →
  • Hypogonadotropic hypogonadism 19 trials · 99 incl. sub-types Sub-types →
  • Lymphoproliferative syndrome 69 trials · 99 incl. sub-types Sub-types →
  • Gastrointestinal stromal tumor 93 trials
  • Familial polycythemia 1 trial · 92 incl. sub-types Sub-types →
  • Familial colorectal cancer 3 trials · 91 incl. sub-types Sub-types →
  • Celiac disease 79 trials Sub-types →
  • Cirrhosis, familial 4 trials · 79 incl. sub-types Sub-types →
  • Spondylolisthesis 77 trials Sub-types →
  • Orofacial cleft 4 trials · 69 incl. sub-types Sub-types →
  • Developmental dysplasia of the hip 62 trials Sub-types →
  • Keratoconus 61 trials Sub-types →
  • Anodontia 59 trials Sub-types →
  • Enterocolitis 3 trials · 58 incl. sub-types Sub-types →
  • Lymphatic malformation 17 trials · 55 incl. sub-types Sub-types →
  • Inherited aplastic anemia 2 trials · 53 incl. sub-types Sub-types →
  • Synovial sarcoma 53 trials Sub-types →
  • Ciliopathy 2 trials · 49 incl. sub-types Sub-types →
  • Hereditary glaucoma 0 trials · 49 incl. sub-types Sub-types →
  • Bone marrow failure syndrome 48 trials Sub-types →
  • Inherited primary ovarian failure 2 trials · 47 incl. sub-types Sub-types →
  • Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types Sub-types →
  • Malocclusion due to protuberant upper front teeth 41 trials
  • Craniosynostosis 17 trials · 39 incl. sub-types Sub-types →
  • Chronic granulomatous disease 37 trials Sub-types →
  • Hereditary hyperparathyroidism 1 trial · 35 incl. sub-types Sub-types →
  • Hypospadias 35 trials Sub-types →
  • Preterm premature rupture of the membranes 35 trials
  • Fragile X syndrome 34 trials Sub-types →
  • Fuchs' endothelial dystrophy 33 trials Sub-types →
  • Spondylosis, cervical 33 trials
  • Arteriovenous malformations of the brain 32 trials
  • Pilonidal sinus 32 trials
  • MALT lymphoma 30 trials · 31 incl. sub-types Sub-types →
  • Hirschsprung disease 29 trials
  • Deafness, unilateral 29 trials
  • Inherited thrombocytopenia 2 trials · 29 incl. sub-types Sub-types →
  • Pathological gambling 28 trials
  • Familial hemolytic anemia 4 trials · 27 incl. sub-types Sub-types →
  • Hereditary hypoparathyroidism 0 trials · 26 incl. sub-types Sub-types →
  • Inherited bleeding disorder, platelet-type 6 trials · 26 incl. sub-types Sub-types →
  • Oculocerebral hypopigmentation syndrome of Preus 26 trials
  • Syncope, familial vasovagal 26 trials
  • Laminopathy 3 trials · 25 incl. sub-types Sub-types →
  • Hypogonadism, male 24 trials
  • Diastasis recti and weakness of the linea alba 23 trials
  • Trigger thumb 23 trials
  • Speech-sound disorder 22 trials
  • Tooth agenesis 22 trials Sub-types →
  • Anterior segment dysgenesis 2 trials · 21 incl. sub-types Sub-types →
  • Alveolar soft part sarcoma 20 trials Sub-types →
  • Pectus excavatum 20 trials
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types Sub-types →
  • Familial clubfoot with or without associated lower limb anomalies 0 trials · 18 incl. sub-types Sub-types →
  • Hereditary hypophosphatemic rickets 1 trial · 18 incl. sub-types Sub-types →
  • Familial osteosclerosis 0 trials · 16 incl. sub-types Sub-types →
  • Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types Sub-types →
  • Familial nonmedullary thyroid carcinoma 3 trials · 15 incl. sub-types Sub-types →
  • Arts syndrome 14 trials
  • Chiari malformation 13 trials · 14 incl. sub-types Sub-types →
  • Klippel-Feil syndrome 14 trials Sub-types →
  • Cryptorchidism 14 trials Sub-types →
  • Essential hypertension, genetic 14 trials
  • Periodontitis, chronic, adult 14 trials
  • Pregnancy loss, recurrent, 4 14 trials
  • Visceral leishmaniasis 14 trials
  • Aorta coarctation 13 trials Sub-types →
  • Familial spontaneous pneumothorax 13 trials
  • Hereditary anemia 2 trials · 13 incl. sub-types Sub-types →
  • SMAD6-related disease 0 trials · 12 incl. sub-types Sub-types →
  • Familial thoracic aortic aneurysm and aortic dissection 11 trials · 12 incl. sub-types Sub-types →
  • Ovarian hyperstimulation syndrome 12 trials
  • Pleomorphic adenoma 12 trials
  • Spermatogenic failure 1 trial · 12 incl. sub-types Sub-types →
  • CDKL5 disorder 8 trials · 11 incl. sub-types Sub-types →
  • CGF1 11 trials
  • Ankyloglossia 11 trials
  • Familial long QT syndrome 1 trial · 11 incl. sub-types Sub-types →
  • Heritable pulmonary arterial hypertension 10 trials · 11 incl. sub-types Sub-types →
  • Inherited interstitial lung disease 5 trials · 11 incl. sub-types Sub-types →
  • Parasomnia, sleep bruxism type 11 trials
  • Progeroid syndrome 3 trials · 11 incl. sub-types Sub-types →
  • Syndromic microphthalmia 0 trials · 11 incl. sub-types Sub-types →
  • Tardive dyskinesia 11 trials
  • Thyroid Hurthle cell carcinoma 11 trials
  • Trichotillomania 11 trials
  • Phelan-McDermid syndrome 10 trials Sub-types →
  • Raynaud disease 10 trials
  • Arthritis, sacroiliac 10 trials
  • Bile duct cyst 10 trials
  • Central precocious puberty 9 trials · 10 incl. sub-types Sub-types →
  • Erythromelalgia 3 trials · 10 incl. sub-types Sub-types →
  • Fibrodysplasia ossificans progressiva 10 trials
  • Hereditary breast carcinoma 10 trials Sub-types →
  • Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
  • Multinodular goiter 10 trials Sub-types →
  • Myostatin-related muscle hypertrophy 10 trials
  • IgE responsiveness, atopic 9 trials
  • Familial pancreatic carcinoma 9 trials
  • Immunodeficiency 32B 9 trials
  • Impacted teeth, multiple 9 trials
  • Inherited obesity 8 trials · 9 incl. sub-types Sub-types →
  • Obesity-hypoventilation syndrome 9 trials
  • Peripheral arterial occlusive disease 1 9 trials
  • Polydactyly 2 trials · 9 incl. sub-types Sub-types →
  • Syndactyly 3 trials · 9 incl. sub-types Sub-types →
  • Central centrifugal cicatricial alopecia 8 trials
  • Familial ovarian cancer 1 trial · 8 incl. sub-types Sub-types →
  • Hyperhidrosis palmaris ET plantaris 8 trials
  • Lower urinary tract obstruction, congenital 8 trials
  • Masticatory muscles, hypertrophy of 8 trials
  • Neuropathy, painful 8 trials
  • Severe congenital neutropenia 5 trials · 8 incl. sub-types Sub-types →
  • Spondylocostal dysostosis 5 trials · 8 incl. sub-types Sub-types →
  • Van der Woude syndrome 8 trials Sub-types →
  • Silver-Russell syndrome 7 trials Sub-types →
  • Amelogenesis imperfecta 3 trials · 7 incl. sub-types Sub-types →
  • Arterial calcification of infancy 7 trials Sub-types →
  • Extraskeletal myxoid chondrosarcoma 7 trials Sub-types →
  • Febrile seizures, familial 4 trials · 7 incl. sub-types Sub-types →
  • Inherited sideroblastic anemia 2 trials · 7 incl. sub-types Sub-types →
  • Malposition of teeth with or without hypodontia/oligodontia 7 trials
  • Protein-losing enteropathy 7 trials
  • Spermatic cord torsion 7 trials
  • CSF1R-related disorder 0 trials · 6 incl. sub-types Sub-types →
  • DICER1-related tumor predisposition 1 trial · 6 incl. sub-types Sub-types →
  • Angioosteohypertrophic syndrome 6 trials
  • Bundle branch block, familial isolated complete right 6 trials
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive 6 trials
  • Familial isolated congenital asplenia 6 trials
  • Fibromuscular dysplasia 6 trials Sub-types →
  • Hereditary chronic pancreatitis 6 trials Sub-types →
  • Hereditary gastric cancer 1 trial · 6 incl. sub-types Sub-types →
  • Hereditary pulmonary alveolar proteinosis 3 trials · 6 incl. sub-types Sub-types →
  • Hypotrichosis 5 trials · 6 incl. sub-types Sub-types →
  • Laryngeal adductor paralysis 6 trials
  • Leukoencephalopathy, hereditary diffuse, with spheroids 1 trial · 6 incl. sub-types Sub-types →
  • Periodontitis, aggressive 4 trials · 6 incl. sub-types Sub-types →
  • Sclerosteosis 6 trials Sub-types →
  • Uterine anomalies 6 trials
  • COL4A1/A2-related disorder 2 trials · 5 incl. sub-types Sub-types →
  • Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
  • Central hypoventilation syndrome, congenital 0 trials · 5 incl. sub-types Sub-types →
  • Congenital diarrhea 0 trials · 5 incl. sub-types Sub-types →
  • Hereditary Wilms tumor 1 trial · 5 incl. sub-types Sub-types →
  • Hereditary narcolepsy 0 trials · 5 incl. sub-types Sub-types →
  • Hydatidiform mole 3 trials · 5 incl. sub-types Sub-types →
  • Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types Sub-types →
  • Primary failure of tooth eruption 5 trials
  • Progesterone resistance 5 trials
  • Pulmonic stenosis 5 trials
  • CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 3 trials · 4 incl. sub-types Sub-types →
  • WHIM syndrome 3 trials · 4 incl. sub-types Sub-types →
  • Alopecia universalis 4 trials
  • Asthma, nasal polyps, and aspirin intolerance 4 trials
  • Bile acid malabsorption, primary, 1 4 trials
  • Diastema, dental medial 4 trials
  • Familial juvenile hypertrophy of the breast 4 trials
  • Fetal and neonatal alloimmune thrombocytopenia 4 trials Sub-types →
  • Global developmental delay with or without impaired intellectual development 4 trials
  • Growth delay due to insulin-like growth factor I resistance 4 trials
  • Hernia, double inguinal 4 trials
  • Hyperreflexia 4 trials
  • Low density lipoprotein cholesterol, mild elevation of 4 trials
  • Parathyroid gland carcinoma 4 trials
  • Prostate cancer, hereditary 1 trial · 4 incl. sub-types Sub-types →
  • Pulmonary atresia-intact ventricular septum syndrome 4 trials
  • Urinary bladder, atony of 4 trials
  • Volvulus of midgut 4 trials Sub-types →
  • 7q11.23 microduplication syndrome 3 trials Sub-types →
  • AP-4 deficiency syndrome 0 trials · 3 incl. sub-types Sub-types →
  • Cushing syndrome due to macronodular adrenal hyperplasia 3 trials Sub-types →
  • Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types Sub-types →
  • Protrusio acetabuli 3 trials
  • Capillary malformation-arteriovenous malformation syndrome 3 trials Sub-types →
  • Delayed puberty, self-limited 3 trials
  • Distal arthrogryposis 0 trials · 3 incl. sub-types Sub-types →
  • Ear malformation 3 trials Sub-types →
  • Epithelial-stromal TGFBI dystrophy 1 trial · 3 incl. sub-types Sub-types →
  • Fibrinolytic defect 3 trials
  • Genu valgum, st. Helena familial 3 trials
  • Hematuria, benign familial 3 trials Sub-types →
  • Lethal congenital contracture syndrome 0 trials · 3 incl. sub-types Sub-types →
  • Patella, familial recurrent dislocation of 3 trials
  • Pigment dispersion syndrome 3 trials
  • Popliteal cyst 3 trials
  • Portal hypertension, noncirrhotic 3 trials Sub-types →
  • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 3 trials
  • Spatial visualization, aptitude for 3 trials
  • Striae distensae, familial 3 trials
  • Tooth ankylosis 3 trials
  • Achoo syndrome 2 trials
  • Kabuki syndrome 2 trials Sub-types →
  • Kasabach-Merritt syndrome 2 trials
  • POLR3A-related disorder 0 trials · 2 incl. sub-types Sub-types →
  • Pseudofolliculitis barbae 2 trials
  • Young syndrome 2 trials
  • Alcohol sensitivity, acute 2 trials
  • Anisomastia 2 trials
  • Arthrogryposis multiplex congenita 1 trial · 2 incl. sub-types Sub-types →
  • Arthropathy, erosive 2 trials
  • Atrichia with papular lesions 2 trials
  • Autoimmune disease, multisystem, infantile-onset 0 trials · 2 incl. sub-types Sub-types →
  • Bone Paget disease 2 trials Sub-types →
  • Breath-holding Spells 2 trials
  • Capillary infantile hemangioma 2 trials
  • Cardiac valvular defect 2 trials Sub-types →
  • Celiac trunk compression syndrome 2 trials
  • Congenital hereditary endothelial dystrophy of cornea 2 trials
  • Congenital pseudoarthrosis of the limbs 1 trial · 2 incl. sub-types Sub-types →
  • Cornea plana 0 trials · 2 incl. sub-types Sub-types →
  • Cystic disease of lung 2 trials
  • Dementia/parkinsonism with non-Alzheimer amyloid plaques 2 trials
  • Dyskinesia with orofacial involvement 1 trial · 2 incl. sub-types Sub-types →
  • Expansile bone lesions 2 trials
  • Familial abdominal aortic aneurysm 0 trials · 2 incl. sub-types Sub-types →
  • Familial hyperaldosteronism 0 trials · 2 incl. sub-types Sub-types →
  • Familial thrombocytosis 2 trials Sub-types →
  • Grouped pigmentation of the retina 2 trials
  • Hereditary gingival fibromatosis 0 trials · 2 incl. sub-types Sub-types →
  • Histiocytoma, Angiomatoid fibrous 2 trials
  • Inherited cutis laxa 0 trials · 2 incl. sub-types Sub-types →
  • Inosine triphosphatase deficiency 2 trials
  • Insect Stings, hypersensitivity to 2 trials
  • Insulin-resistance syndrome type A 2 trials
  • Intussusception 2 trials
  • Islet cell adenomatosis 0 trials · 2 incl. sub-types Sub-types →
  • Juvenile arthritis due to defect in LACC1 2 trials
  • Kyphoscoliosis 1 2 trials
  • Multisystemic smooth muscle dysfunction syndrome 2 trials Sub-types →
  • Muscular hypertonia, lethal 2 trials
  • Myelodysplastic syndrome associated with isolated del(5q) 2 trials
  • Nose, anomalous shape of 2 trials
  • Platelet aggregation, spontaneous 2 trials
  • Portal vein, cavernous transformation of 2 trials
  • Primary pigmented nodular adrenocortical disease 2 trials Sub-types →
  • Ragweed sensitivity 2 trials
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
  • Teeth, supernumerary 2 trials
  • 17q11.2 microduplication syndrome 1 trial
  • A20 haploinsufficiency 1 trial
  • ACAN-related short stature spectrum 0 trials · 1 incl. sub-types Sub-types →
  • Axenfeld-Rieger syndrome 1 trial Sub-types →
  • BENTA disease 1 trial
  • CACNA1C-related disorder 0 trials · 1 incl. sub-types Sub-types →
  • CFTR-related disorder 1 trial Sub-types →
  • Caroli syndrome 1 trial
  • Caronte 1 trial
  • Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 1 trial
  • Chopra-Amiel-Gordon syndrome 1 trial
  • Coffin-Siris syndrome 1 trial Sub-types →
  • Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 trial
  • DHDDS-CDG 1 trial Sub-types →
  • ELANE-related neutropenia 0 trials · 1 incl. sub-types Sub-types →
  • Koolen-de Vries syndrome 1 trial Sub-types →
  • L-ferritin deficiency 1 trial
  • Mazabraud syndrome 1 trial
  • Mendelian encephalopathy 0 trials · 1 incl. sub-types Sub-types →
  • NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types Sub-types →
  • PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
  • Potocki-Lupski syndrome 1 trial
  • RNU4ATAC spectrum disorder 1 trial Sub-types →
  • Rombo syndrome 1 trial
  • Shashi-Pena syndrome 1 trial
  • Snijders Blok-Campeau syndrome 1 trial
  • TOR1AIP1-related nuclear envelopathy 0 trials · 1 incl. sub-types Sub-types →
  • Taqi polymorphism 1 trial
  • WFS1-related disorder 0 trials · 1 incl. sub-types Sub-types →
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
  • Y-linked disease 0 trials · 1 incl. sub-types Sub-types →
  • Yao syndrome 1 trial
  • Acrofacial dysostosis 0 trials · 1 incl. sub-types Sub-types →
  • Aganglionosis, total intestinal 1 trial
  • Androgen insensitivity syndrome 1 trial Sub-types →
  • Anisocoria 1 trial
  • Arcus senilis 1 trial
  • Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 1 trial
  • Beta-aminoisobutyric acid, urinary excretion of 1 trial
  • Central areolar choroidal dystrophy 1 trial Sub-types →
  • Chromosome 15q24 deletion syndrome 1 trial
  • Congenital bilateral absence of vas deferens 1 trial Sub-types →
  • Congenital insensitivity to pain syndrome, Marsili type 1 trial
  • Contractures, pterygia, and variable skeletal fusions syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Coracoclavicular joint, anomalous 1 trial
  • Coxa vara 1 trial
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 trial
  • Dysautonomia-like disorder 1 trial
  • Early repolarization associated with ventricular fibrillation 1 trial
  • Electroencephalographic peculiarity: fronto-precentral beta wave groups 1 trial
  • Eosinophilia, familial 1 trial
  • Epilepsy, early-onset 0 trials · 1 incl. sub-types Sub-types →
  • Esophagitis, eosinophilic, 1 1 trial
  • Familial male-limited precocious puberty 1 trial
  • Familial melanoma 1 trial Sub-types →
  • Familial vesicoureteral reflux 0 trials · 1 incl. sub-types Sub-types →
  • Fleck corneal dystrophy 1 trial
  • Focal dermal hypoplasia 1 trial
  • Foveal hypoplasia 1 trial Sub-types →
  • Frontonasal dysplasia 1 trial Sub-types →
  • Gastrointestinal defect and immunodeficiency syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Graying of hair, precocious 1 trial
  • Growth delay due to insulin-like growth factor type 1 deficiency 1 trial
  • Growth hormone insensitivity syndrome with immune dysregulation 0 trials · 1 incl. sub-types Sub-types →
  • Hereditary arterial and articular multiple calcification syndrome 1 trial
  • Hereditary gallbladder disorder 0 trials · 1 incl. sub-types Sub-types →
  • Horizontal gaze palsy with progressive scoliosis 1 trial Sub-types →
  • Hyperpigmentation of eyelid 1 trial
  • Hypoparathyroidism-deafness-renal disease syndrome 1 trial
  • Hypothyroidism, congenital, nongoitrous 0 trials · 1 incl. sub-types Sub-types →
  • Ichthyosis prematurity syndrome 1 trial
  • Immunodysregulation with variable immunodeficiency and autoimmunity 1 trial
  • Infantile liver failure 0 trials · 1 incl. sub-types Sub-types →
  • Isolated congenital breast hypoplasia/aplasia 0 trials · 1 incl. sub-types Sub-types →
  • Isolated microphthalmia 0 trials · 1 incl. sub-types Sub-types →
  • Levator-medial rectus synkinesis 1 trial
  • Lumbar stenosis, familial 1 trial
  • Megalodactyly 1 trial
  • Microtia with meatal atresia and conductive deafness 1 trial
  • Modifier, X-linked, for Neurofunctional defects 1 trial
  • Myeloperoxidase deficiency 1 trial
  • Nasal alar collapse, bilateral 1 trial
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 trials · 1 incl. sub-types Sub-types →
  • Neutropenia, chronic familial 1 trial
  • Nocturnal enuresis, 2 1 trial
  • Nonimmune chronic idiopathic neutropenia of adults 1 trial
  • Pancreatic agenesis 0 trials · 1 incl. sub-types Sub-types →
  • Papillomatosis, confluent and reticulated 1 trial
  • Pernicious anemia 1 trial
  • Platelet membrane fluidity 1 trial
  • Posterior polymorphous corneal dystrophy 1 trial Sub-types →
  • Premature centromere division 1 trial
  • Progressive deafness with stapes fixation 1 trial
  • Prolactin deficiency, isolated 1 trial
  • Pulmonary atresia with ventricular septal defect 1 trial
  • Pyropoikilocytosis, hereditary 1 trial
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 1 trial
  • Split hand-foot malformation 0 trials · 1 incl. sub-types Sub-types →
  • Tarsal coalition 1 trial
  • Taurodontism 1 trial
  • Trichomegaly 1 trial Sub-types →
  • Triphalangeal thumb, Nonopposable 1 trial
  • Tune deafness 1 trial
  • Urolithiasis, uric acid, autosomal dominant 1 trial
  • Visceral heterotaxy 1 trial Sub-types →
  • 3MC syndrome 0 trials Sub-types →
  • 46,XX sex reversal 1 0 trials
  • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 0 trials
  • 46,xx sex reversal 5 0 trials
  • 5-hydroxytryptamine oxygenase regulator 0 trials
  • 6-phosphogluconolactonase deficiency 0 trials
  • ACCES syndrome 0 trials
  • ACD-related telomere biology disorder 0 trials Sub-types →
  • ADNP-related blepharophimosis-intellectual disability syndrome 0 trials
  • AKT3-related overgrowth spectrum 0 trials Sub-types →
  • Abruzzo-Erickson syndrome 0 trials
  • Achard syndrome 0 trials
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia 0 trials
  • Adams-Oliver syndrome 0 trials Sub-types →
  • Alazami-Yuan syndrome 0 trials
  • Alfadhel syndrome 0 trials
  • Alkuraya-Kucinskas syndrome 0 trials
  • Amobarbital, deficient N-hydroxylation of 0 trials
  • Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 0 trials
  • Armfield syndrome 0 trials
  • Atelis syndrome 0 trials Sub-types →
  • Athrombia, essential 0 trials
  • Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 0 trials
  • Ayme-Gripp syndrome 0 trials
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 trials
  • BAFopathy 0 trials Sub-types →
  • BMP4-related ocular growth disorder 0 trials Sub-types →
  • Bamforth-Lazarus syndrome 0 trials
  • Baralle-Macken syndrome 0 trials
  • Basilicata-Akhtar syndrome 0 trials
  • Beck-Fahrner syndrome 0 trials
  • Birbeck granule deficiency 0 trials
  • Boudin-Mortier syndrome 0 trials
  • Bowen syndrome of multiple malformations 0 trials
  • Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay 0 trials
  • Brachymetatarsus 4 0 trials
  • Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
  • Braddock-Carey syndrome 0 trials Sub-types →
  • Bryant-Li-Bhoj neurodevelopmental syndrome 0 trials Sub-types →
  • Buratti-Harel syndrome 0 trials
  • CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 0 trials
  • CEBALID syndrome 0 trials
  • CHAND syndrome 0 trials
  • CLAPO syndrome 0 trials
  • CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 0 trials Sub-types →
  • Camptosynpolydactyly, complex 0 trials
  • Car factor deficiency 0 trials
  • Carabelli anomaly of maxillary molar teeth 0 trials
  • Cardioneuromyopathy with hyaline masses and nemaline rods 0 trials
  • Carey-Fineman-Ziter syndrome 0 trials Sub-types →
  • Catifa syndrome 0 trials
  • Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita 0 trials
  • Chitayat syndrome 0 trials
  • Chondronectin 0 trials
  • Christianson syndrome 0 trials
  • Chudley-McCullough syndrome 0 trials
  • Cohen-Gibson syndrome 0 trials
  • Crane-Heise syndrome 0 trials
  • Cree intellectual disability syndrome 0 trials
  • DEGCAGS syndrome 0 trials
  • DNA, low-repetitive sequences of 0 trials
  • DNA, satellite, 3 0 trials
  • DONSON-related microcephaly-short stature-limb abnormalities spectrum 0 trials
  • DOORS syndrome 0 trials
  • Darwinian tubercle of pinna 0 trials
  • Dauwerse-Peters syndrome 0 trials
  • DeSanto-Shinawi syndrome due to WAC point mutation 0 trials
  • Devriendt syndrome 0 trials
  • Diamond-Blackfan anemia-like 0 trials
  • Diets-Jongmans syndrome 0 trials
  • Dohle bodies and leukemia 0 trials
  • Dursun syndrome 0 trials
  • Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 0 trials
  • EDICT syndrome 0 trials
  • EN1-related dorsoventral syndrome 0 trials Sub-types →
  • EPHB4-associated vascular malformation spectrum 0 trials Sub-types →
  • Elsahy-Waters syndrome 0 trials
  • Emanuel syndrome 0 trials
  • Eosinophilopenia 0 trials
  • FDXR-related optic atrophy mitochondrial dysfunction syndrome 0 trials Sub-types →
  • FG syndrome 0 trials Sub-types →
  • FICUS syndrome 0 trials
  • FRAXD syndrome 0 trials
  • FRAXF syndrome 0 trials
  • Fanconi-like syndrome 0 trials Sub-types →
  • Faundes-Banka syndrome 0 trials
  • Fliedner-Zweier syndrome 0 trials
  • Floating-Harbor syndrome 0 trials
  • Fowler syndrome 0 trials
  • Fraser-like syndrome 0 trials
  • Freesia Flowers, inability to smell 0 trials
  • Friedreich ataxia and congenital glaucoma 0 trials
  • Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 0 trials
  • GATA1-Related X-Linked Cytopenia 0 trials Sub-types →
  • GCGR-related hyperglucagonemia 0 trials
  • GOMBO syndrome 0 trials
  • GRACILE syndrome 0 trials
  • Gabriele de Vries syndrome 0 trials
  • Gamstorp-Wohlfart syndrome 0 trials
  • Giacheti syndrome 0 trials
  • Glucoglycinuria 0 trials
  • Goldberg-Shprintzen syndrome 0 trials
  • Grant syndrome 0 trials
  • Guillouet-Gordon syndrome 0 trials
  • Guttmacher syndrome 0 trials
  • Halothane hepatitis 0 trials
  • Hengel-Maroofian-Schols syndrome 0 trials
  • Heyn-Sproul-Jackson syndrome 0 trials
  • Hhhh syndrome 0 trials
  • Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 0 trials
  • Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 0 trials
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction 0 trials
  • Hooft disease 0 trials
  • Houge-Janssens syndrome 0 trials Sub-types →
  • Hoxha-Aliu syndrome 0 trials
  • Hunter-Macdonald syndrome 0 trials
  • Huppke-Brendel syndrome 0 trials
  • Hutterite cerebroosteonephrodysplasia syndrome 0 trials
  • ICHAD syndrome 0 trials
  • IVIC syndrome 0 trials
  • Imagawa-Matsumoto syndrome 0 trials
  • Jaberi-Elahi syndrome 0 trials
  • Jalili syndrome 0 trials
  • Jawad syndrome 0 trials
  • Juberg-Hayward syndrome 0 trials
  • Jumping Frenchmen of Maine 0 trials
  • KLHL7-related Bohring-Opitz-like syndrome 0 trials
  • Kallmann syndrome with spastic paraplegia 0 trials
  • Karsch-Neugebauer syndrome 0 trials
  • Kaya-Barakat-Masson syndrome 0 trials
  • Keipert syndrome 0 trials
  • Khan-Khan-Katsanis syndrome 0 trials
  • Kifafa seizure disorder 0 trials
  • Kleefstra syndrome 0 trials Sub-types →
  • Kniest-like dysplasia with pursed lips and ectopia lentis 0 trials
  • Kohlschutter-Tonz syndrome-like 0 trials
  • Kury-Isidor syndrome 0 trials
  • Kyrle disease 0 trials
  • LTBP2-related ocular dysgenesis 0 trials Sub-types →
  • Lamb-Shaffer syndrome 0 trials
  • Lambotte syndrome 0 trials
  • Lessel-Kreienkamp syndrome 0 trials
  • Leydig cell hypoplasia, type 1 0 trials Sub-types →
  • Li-Campeau syndrome 0 trials
  • Li-Ghorbani-Weisz-Hubshman syndrome 0 trials
  • Liang-Wang syndrome 0 trials
  • Liberfarb syndrome 0 trials
  • Lisch epithelial corneal dystrophy 0 trials
  • Long-Olsen-Distelmaier syndrome 0 trials
  • Lopes-Maciel-Rodan syndrome 0 trials
  • Lui-Jee-Baron syndrome 0 trials
  • Luo-Schoch-Yamamoto syndrome 0 trials
  • Luscan-Lumish syndrome 0 trials
  • MECOM-associated syndrome 0 trials Sub-types →
  • MIRAGE syndrome 0 trials
  • MOMO syndrome 0 trials
  • MORM syndrome 0 trials
  • MTOR-related overgrowth spectrum 0 trials
  • Malan overgrowth syndrome 0 trials
  • Mammastatin 0 trials
  • Marinesco-Sjogren-like syndrome 0 trials
  • Martinez-Frias syndrome 0 trials
  • Meacham syndrome 0 trials
  • Meckel diverticulum 0 trials
  • Meesmann corneal dystrophy 0 trials Sub-types →
  • Meester-Loeys syndrome 0 trials
  • Megarbane syndrome 0 trials
  • Megarbane-Jalkh syndrome 0 trials
  • Melhem-Fahl syndrome 0 trials
  • Menke-Hennekam syndrome 0 trials Sub-types →
  • Monophalangy of great toe 0 trials
  • Moynahan syndrome 0 trials
  • Muggenthaler-Chowdhury-Chioza syndrome 0 trials
  • Mullegama-Klein-Martinez syndrome 0 trials
  • Mungan syndrome 0 trials
  • N-acetylaspartate deficiency 0 trials
  • NDUFB11-related disorders 0 trials Sub-types →
  • NR2F2 related multiple congenital anomalies/dysmorphic syndrome 0 trials
  • NR5A1-related sex development disorder 0 trials Sub-types →
  • Nance-Horan syndrome 0 trials
  • Nguyen syndrome 0 trials
  • Nizon-Isidor syndrome 0 trials
  • O'Donnell-Luria-Rodan syndrome 0 trials
  • Okt4 epitope deficiency 0 trials
  • Onychotrichodysplasia and neutropenia 0 trials
  • Opitz G/BBB syndrome 0 trials Sub-types →
  • Opticocochleodentate degeneration 0 trials
  • Oroacral syndrome, Verloes-Koulischer type 0 trials
  • Osebold skeletal dysplasia/osteolysis syndrome 0 trials
  • PI4KA-related disorder 0 trials Sub-types →
  • PIK3R1-related immunodeficiency and SHORT syndrome 0 trials Sub-types →
  • PMP22-RAI1 contiguous gene duplication syndrome 0 trials
  • POLR1C-related disorder 0 trials Sub-types →
  • POLR3B-related disorder 0 trials Sub-types →
  • PR interval, variation in 0 trials
  • Paine syndrome 0 trials
  • Pan-Chung-Bellen syndrome 0 trials
  • Paramolar tubercle of bolk 0 trials
  • Parotidomegaly, hereditary bilateral 0 trials
  • Partington-Anderson syndrome 0 trials
  • Passovoy factor defect 0 trials
  • Pechet factor deficiency 0 trials
  • Perlman syndrome 0 trials
  • Pierre Robin syndrome-faciodigital anomaly syndrome 0 trials
  • Pilotto syndrome 0 trials
  • Polyosteolysis-hyperostosis syndrome 0 trials
  • Prepapillary vascular loops 0 trials
  • Primrose syndrome 0 trials
  • Pseudoatrophoderma colli 0 trials
  • Pseudopili annulati 0 trials
  • Pseudouridinuria and mental defect 0 trials
  • Rabin-Pappas syndrome 0 trials
  • Rabson-Mendenhall syndrome 0 trials
  • Radio-Tartaglia syndrome 0 trials
  • Rahman syndrome 0 trials
  • Ramon syndrome 0 trials
  • Rauch-Steindl syndrome 0 trials
  • Reese retinal dysplasia 0 trials
  • Reynolds syndrome 0 trials
  • Robin sequence-oligodactyly syndrome 0 trials
  • Robinow-Sorauf syndrome 0 trials
  • Roussy-Levy syndrome 0 trials
  • Rowley-Rosenberg syndrome 0 trials
  • SEC61A1 deficiency 0 trials Sub-types →
  • STAD syndrome 0 trials
  • SYCE1-related gametogenic failure 0 trials Sub-types →
  • Sabinas brittle hair syndrome 0 trials
  • Sakoda complex 0 trials
  • Santos syndrome 0 trials
  • Schnyder corneal dystrophy 0 trials
  • Sener syndrome 0 trials
  • Short stature, Dauber-Argente type 0 trials
  • Shukla-Vernon syndrome 0 trials
  • Siddiqi syndrome 0 trials
  • Sifrim-Hitz-Weiss syndrome 0 trials
  • Simpson-Golabi-Behmel syndrome type 1 0 trials
  • Simpson-Golabi-Behmel syndrome type 2 0 trials
  • Sjogren-Larsson-like ichthyosis without CNS or eye involvement 0 trials
  • Skraban-Deardorff syndrome 0 trials
  • Somatomedin, embryonic 0 trials
  • Spondylospinal thoracic dysostosis 0 trials
  • Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features 0 trials
  • Stevenson-Carey syndrome 0 trials
  • Stuve-Wiedemann syndrome 0 trials Sub-types →
  • Suleiman-El-Hattab syndrome 0 trials
  • Sweeney-Cox syndrome 0 trials
  • T-cell Subgroups, non-HLA-linked 0 trials
  • T-cell immunodeficiency with epidermodysplasia verruciformis 0 trials
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 trials
  • T-substance anomaly 0 trials
  • THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 trials
  • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 0 trials Sub-types →
  • TPM4-related platelet disorder 0 trials
  • TRAF3 haploinsufficiency 0 trials
  • Tan-Almurshedi syndrome 0 trials
  • Tayoun-Maawali syndrome 0 trials
  • Teebi hypertelorism syndrome 0 trials Sub-types →
  • Tenorio syndrome 0 trials
  • Tented eyebrows 0 trials
  • Tessadori-Van-Haaften neurodevelopmental syndrome 0 trials Sub-types →
  • Thai symphalangism syndrome 0 trials
  • Tn polyagglutination syndrome 0 trials
  • Tolchin-Le Caignec syndrome 0 trials
  • Tonoki syndrome 0 trials
  • Tristichiasis 0 trials
  • Tryptophanuria with dwarfism 0 trials
  • Tuftsin deficiency 0 trials
  • Tyrosinosis 0 trials
  • Undritz anomaly 0 trials
  • Upington disease 0 trials
  • Usher syndrome, type 1M 0 trials
  • Usmani-Riazuddin syndrome, autosomal dominant 0 trials
  • Usmani-Riazuddin syndrome, autosomal recessive 0 trials
  • VACTERL association, X-linked, with or without hydrocephalus 0 trials
  • VISS syndrome 0 trials
  • Valinemia 0 trials
  • Ververi-Brady syndrome 0 trials Sub-types →
  • Vissers-Bodmer syndrome 0 trials
  • Warsaw breakage syndrome 0 trials
  • Webb-Dattani syndrome 0 trials
  • Weyers ulnar ray/oligodactyly syndrome 0 trials
  • White-Kernohan syndrome 0 trials
  • Wiedemann-Steiner syndrome 0 trials
  • Wolfram syndrome 2 0 trials
  • Woronets trait 0 trials
  • X inactivation, familial skewed 0 trials Sub-types →
  • X-linked complicated corpus callosum dysgenesis 0 trials
  • Y chromosome infertility due to DAZ1 deletion 0 trials
  • Yuksel-Vogel-Bauer syndrome 0 trials
  • ZTTK syndrome 0 trials
  • Zaki syndrome 0 trials
  • Zimmermann-Laband syndrome 0 trials Sub-types →
  • Ablepharon macrostomia syndrome 0 trials
  • Absence deformity of leg-cataract syndrome 0 trials
  • Absent radius-anogenital anomalies syndrome 0 trials
  • Acetyl-CoA acetyltransferase-2 deficiency 0 trials
  • Acetyl-coa carboxylase deficiency 0 trials
  • Acetylation, slow 0 trials
  • Achalasia, familial esophageal 0 trials
  • Acinar dysplasia caused by mutation in FGF10 0 trials
  • Acinar dysplasia caused by mutation in FGFR2 0 trials
  • Acinar dysplasia caused by mutation in TBX4 0 trials
  • Acroleukopathy, symmetric 0 trials
  • Acromegaloid changes, cutis verticis gyrata, and corneal leukoma 0 trials
  • Acromegaloid features, overgrowth, cleft palate, and hernia 0 trials
  • Acromial dimples 0 trials
  • Acroosteolysis-keloid-like lesions-premature aging syndrome 0 trials
  • Acute insulin response 0 trials
  • Adenosine triphosphatase deficiency, anemia due to 0 trials
  • Advanced sleep phase syndrome 0 trials Sub-types →
  • Agenesis of cerebral white matter 0 trials
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 trials
  • Agenesis of the corpus callosum and congenital lymphedema 0 trials
  • Agnathia-otocephaly complex 0 trials
  • Alar cleft, isolated 0 trials
  • Alopecia - intellectual disability syndrome 0 trials Sub-types →
  • Alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia 0 trials
  • Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
  • Alpha-thalassemia-myelodysplastic syndrome 0 trials
  • Amastia, bilateral, with ureteral triplication and dysmorphism 0 trials
  • Amegakaryocytic thrombocytopenia, congenital, 2 0 trials
  • Amelia and terminal transverse hemimelia 0 trials
  • Amelia cleft lip palate hydrocephalus iris coloboma 0 trials
  • Amenorrhea-galactorrhea syndrome 0 trials
  • Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 0 trials
  • Amyloidosis of gingiva and conjunctiva, with intellectual disability 0 trials
  • Amyloidosis, cutaneous bullous 0 trials
  • Amyotonia congenita 0 trials
  • Amyotrophic dystonic paraplegia 0 trials
  • Anal sphincter dysplasia 0 trials
  • Anal sphincter myopathy, internal 0 trials
  • Anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome 0 trials
  • Anemia, hypochromic microcytic with iron overload 0 trials Sub-types →
  • Angiokeratoma corporis diffusum with arteriovenous fistulas 0 trials
  • Angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert 0 trials
  • Anhaptoglobinemia 0 trials
  • Aniridia - intellectual disability syndrome 0 trials
  • Aniridia, microcornea, and spontaneously Reabsorbed cataract 0 trials
  • Aniridia-absent patella syndrome 0 trials
  • Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
  • Annular erythema 0 trials
  • Anonychia-ectrodactyly 0 trials
  • Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 0 trials
  • Anosmia for isobutyric acid 0 trials
  • Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 0 trials
  • Antigen defined by monoclonal antibody Aj9 0 trials
  • Antigen defined by monoclonal antibody T87 0 trials
  • Antithrombin, familial hemorrhagic diathesis due to 0 trials
  • Aortic arch interruption, facial palsy, and retinal coloboma 0 trials
  • Aplasia of lacrimal and salivary glands 0 trials
  • Apraxia of eyelid opening 0 trials
  • Ariboflavinosis 0 trials Sub-types →
  • Arms, malformation of 0 trials
  • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 0 trials
  • Arteries, anomalies of 0 trials
  • Arteriosclerosis, severe juvenile 0 trials
  • Arteritis, familial granulomatous, with juvenile polyarthritis 0 trials
  • Arthrogryposis multiplex with deafness, inguinal hernias, and early death 0 trials
  • Arthrogryposis, Perthes disease, and upward gaze palsy 0 trials
  • Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 trials
  • Arthrogryposis, congenital, lower limb, X-linked 0 trials
  • Arthrogryposis, distal, with intellectual disability and characteristic facies 0 trials
  • Aspirin resistance 0 trials
  • Asthma, short stature, and elevated IgA 0 trials
  • Asymmetric short stature syndrome 0 trials
  • Ataxia with myoclonic epilepsy and presenile dementia 0 trials
  • Ataxia, deafness, and cardiomyopathy 0 trials
  • Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 trials
  • Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 0 trials
  • Ataxia-microcephaly-cataract syndrome 0 trials
  • Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 0 trials
  • Atonic-astatic syndrome of Foerster 0 trials
  • Atrial septal defect, secundum, with various cardiac and Noncardiac defects 0 trials
  • Atrophia maculosa varioliformis cutis, familial 0 trials
  • Aurocephalosyndactyly 0 trials
  • Autoinflammation with arthritis and dyskeratosis 0 trials
  • Autoinflammation with arthritis and vasculitis 0 trials
  • Autoinflammation with episodic fever and immune dysregulation 0 trials
  • Autoinflammation with episodic fever and lymphadenopathy 0 trials
  • Autoinflammation with pulmonary and cutaneous vasculitis 0 trials
  • Autoinflammation, immune dysregulation, and eosinophilia 0 trials
  • Autoinflammation, panniculitis, and dermatosis syndrome 0 trials Sub-types →
  • Autosomal dominant deafness - onychodystrophy syndrome 0 trials
  • Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 0 trials
  • Autosomal dominant wooly hair 0 trials
  • Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0 trials
  • Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0 trials
  • Azoospermia, obstructive, with nephrolithiasis 0 trials
  • Azotemia, familial 0 trials
  • Baculum, congenital absence of 0 trials
  • Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 0 trials
  • Beta-amino acids, renal transport of 0 trials
  • Bilateral microtia-deafness-cleft palate syndrome 0 trials
  • Bile acid conjugation defect 1 0 trials
  • Bile acid malabsorption, primary, 2 0 trials
  • Bile and pancreatic ducts, complete absence of 0 trials
  • Biliary malformation with renal tubular insufficiency 0 trials
  • Biliary, renal, neurologic, and skeletal syndrome 0 trials
  • Bipartite talus 0 trials
  • Bladder diverticulum 0 trials Sub-types →
  • Blepharochalasis, superior 0 trials
  • Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
  • Blepharophimosis-impaired intellectual development syndrome 0 trials
  • Blistering, acantholytic, of oral and laryngeal mucosa 0 trials
  • Blue nevi, familial multiple 0 trials
  • Bone marrow failure and diabetes mellitus syndrome 0 trials
  • Bone pain, periodic 0 trials
  • Brachial palsy, familial congenital 0 trials
  • Brachycephaly, trichomegaly, and developmental delay 0 trials
  • Brachydactyly 0 trials Sub-types →
  • Brachydactyly, coloboma, and anterior segment dysgenesis 0 trials
  • Brachydactyly, intraventricular septal defect, and deafness 0 trials
  • Brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability 0 trials
  • Brachydactyly, type A2, with microcephaly 0 trials
  • Brachymesomelia-renal syndrome 0 trials
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 0 trials
  • Brain malformation renal syndrome 0 trials
  • Branchial myoclonus with spastic paraparesis and cerebellar ataxia 0 trials
  • Branchiootic syndrome 0 trials Sub-types →
  • Broad terminal phalanges, familial 0 trials
  • Bronchiectasis and nasal polyposis 0 trials
  • Bullous dystrophy, macular type 0 trials
  • Butyrylesterase 1 0 trials
  • Calcific aortic disease with immunologic abnormalities, familial 0 trials
  • Camera-Marugo-Cohen syndrome 0 trials
  • Camptodactyly syndrome, Guadalajara 0 trials Sub-types →
  • Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
  • Camptodactyly-ichthyosis syndrome 0 trials
  • Cancer, familial, with in vitro Radioresistance 0 trials
  • Canine teeth, absence of upper permanent 0 trials
  • Carboxypeptidase N deficiency 0 trials
  • Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 trials
  • Cardiac septal defects with coarctation of the aorta 0 trials
  • Cardiac, facial, and digital anomalies with developmental delay 0 trials
  • Cardiac-urogenital syndrome 0 trials
  • Cardioacrofacial dysplasia 0 trials Sub-types →
  • Cardioauditory syndrome of Sanchez Cascos 0 trials
  • Cardiofacioneurodevelopmental syndrome 0 trials
  • Cardiomyopathy associated with myopathy and sudden death 0 trials
  • Cardiomyopathy, fatal fetal, due to myocardial calcification 0 trials
  • Cardiomyopathy, infantile hypertrophic 0 trials
  • Carnitine acetyltransferase deficiency 0 trials
  • Carnitine deficiency, myopathic 0 trials
  • Carpal displacement 0 trials
  • Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 0 trials
  • Cataract, ataxia, short stature, and intellectual disability 0 trials
  • Cataract, congenital, with mental impairment and dentate gyrus atrophy 0 trials
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 0 trials Sub-types →
  • Caudal duplication 0 trials
  • Cavernous hemangiomas of face-supraumbilical midline raphe syndrome 0 trials
  • Celiac disease-epilepsy-cerebral calcification syndrome 0 trials
  • Central incisors, absence of 0 trials
  • Cephalin lipidosis 0 trials
  • Cerebellar ataxia and neurosensory deafness 0 trials
  • Cerebellar ataxia, benign, with thermoanalgesia 0 trials
  • Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0 trials
  • Cerebellar atrophy with seizures and variable developmental delay 0 trials
  • Cerebellar atrophy, developmental delay, and seizures 0 trials
  • Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 0 trials
  • Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 trials
  • Cerebellar, ocular, craniofacial, and genital syndrome 0 trials
  • Cerebelloparenchymal disorder 0 trials Sub-types →
  • Cerebral angiopathy, dysphoric 0 trials
  • Cerebral malformation, seizures, hypertrichosis, and overlapping fingers 0 trials
  • Cerebral sclerosis, diffuse, scholz type 0 trials
  • Cerebrocortical degeneration of infancy 0 trials
  • Cervical hypertrichosis with underlying kyphoscoliosis 0 trials
  • Cervical rib disease 0 trials
  • Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction 0 trials
  • Cervical vertebrae, agenesis of 0 trials
  • Cervical vertebral Bridge 0 trials
  • Cervical vertebral dysplasia 0 trials
  • Chemodectoma, intraabdominal, with cutaneous angiolipomas 0 trials
  • Chloramphenicol toxicity 0 trials
  • Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 trials
  • Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 trials
  • Cholestasis with gallstone, ataxia, and visual disturbance 0 trials
  • Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 trials
  • Cholesteatoma, congenital 0 trials
  • Cholesterol pneumonia 0 trials
  • Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
  • Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome 0 trials
  • Chorea, childhood-onset, with psychomotor retardation 0 trials
  • Choroidal osteoma, bilateral 0 trials
  • Chromosomal instability with tissue-specific radiosensitivity 0 trials
  • Chromosome 16 inversion, 0.45-Mb 0 trials
  • Chromosome 18 pericentric inversion 0 trials
  • Chromosome 1p32-p31 deletion syndrome 0 trials
  • Chromosome 1p35 deletion syndrome 0 trials
  • Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant 0 trials
  • Chromosome 4Q32.1-q32.2 triplication syndrome 0 trials
  • Chronic atrial and intestinal dysrhythmia 0 trials
  • Chronic mast cell leukemia 0 trials
  • Circumvallate placenta syndrome 0 trials
  • Citrulline transport defect 0 trials
  • Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia 0 trials
  • Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 0 trials
  • Cleft palate, proliferative retinopathy, and developmental delay 0 trials
  • Cleft palate-large ears-small head syndrome 0 trials
  • Cocoon syndrome 0 trials
  • Cognitive impairment with or without cerebellar ataxia 0 trials
  • Colloid cysts of third ventricle 0 trials
  • Coloboma, ocular, autosomal dominant 0 trials Sub-types →
  • Coloboma, ocular, autosomal recessive 0 trials
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 0 trials
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
  • Colonic varices without portal hypertension 0 trials
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 trials
  • Combined low LDL and fibrinogen 0 trials
  • Combined oxidative phosphorylation deficiency 49 0 trials
  • Combined oxidative phosphorylation deficiency 50 0 trials
  • Comedones, familial Dyskeratotic 0 trials
  • Commissural lip pits 0 trials
  • Complement factor b deficiency 0 trials
  • Conductive deafness-malformed external ear syndrome 0 trials
  • Cone-rod dystrophy and hearing loss 0 trials Sub-types →
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive 0 trials
  • Congenital analbuminemia 0 trials
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 trials
  • Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 trials
  • Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 0 trials
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 trials
  • Congenital disorder of glycosylation, type i/IIx 0 trials
  • Congenital enteropathy due to enteropeptidase deficiency 0 trials
  • Congenital heart defects and ectodermal dysplasia 0 trials
  • Congenital heart defects and skeletal malformations syndrome 0 trials
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 trials
  • Congenital heart defects, multiple types, 7 0 trials
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 trials
  • Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 0 trials
  • Congenital pseudoarthrosis of clavicle 0 trials
  • Congenital short bowel syndrome, autosomal recessive 0 trials
  • Congenital smooth muscle hamartoma, with or without hemihypertrophy 0 trials
  • Congenital stromal corneal dystrophy 0 trials
  • Congenital vertical talus 0 trials Sub-types →
  • Convulsive disorder, familial, with prenatal or early onset 0 trials
  • Cornea guttata with anterior polar cataracts 0 trials
  • Corneal degeneration, band-shaped spheroid 0 trials
  • Corneal degeneration, ribbonlike, with deafness 0 trials
  • Corneal dystrophy, punctiform and polychromatic pre-descemet 0 trials
  • Corneal dystrophy-perceptive deafness syndrome 0 trials
  • Corpus callosum agenesis-abnormal genitalia syndrome 0 trials
  • Corticosteroid-binding globulin deficiency 0 trials
  • Corticosterone methyloxidase type 2 deficiency 0 trials
  • Coumarin resistance 0 trials
  • Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay 0 trials
  • Cranial nerves, congenital paresis of 0 trials
  • Cranial nerves, recurrent paresis of 0 trials
  • Cranioacrofacial syndrome 0 trials
  • Craniofacial anomalies and anterior segment dysgenesis syndrome 0 trials
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0 trials Sub-types →
  • Craniofacial dysplasia - osteopenia syndrome 0 trials
  • Craniofacial-deafness-hand syndrome 0 trials
  • Craniofaciocardiohepatic syndrome 0 trials
  • Craniolenticulosutural dysplasia 0 trials
  • Craniometadiaphyseal osteosclerosis with hip dysplasia 0 trials
  • Craniorhiny 0 trials
  • Craniosynostosis with anomalies of the cranial base and digits 0 trials
  • Craniosynostosis-intellectual disability syndrome of 51N and Gettig 0 trials
  • Craniosynostosis-intellectual disability-clefting syndrome 0 trials
  • Craniosynostosis-scoliosis syndrome 0 trials
  • Creases, infra-auricular cutaneous, with tall stature and advanced bone age 0 trials
  • Creatine phosphokinase, elevated serum 0 trials
  • Crumpled helices and small mouth 0 trials
  • Cryofibrinogenemia, familial primary 0 trials
  • Cryptotia, familial 0 trials
  • Curved nail of fourth toe 0 trials
  • Cutis verticis gyrata and intellectual disability 0 trials
  • Cutis verticis gyrata, thyroid aplasia, and intellectual disability 0 trials
  • Cyanosis and hepatic disease 0 trials
  • Cyanosis, transient neonatal 0 trials Sub-types →
  • Cysteine Peptiduria 0 trials
  • Dandy-walker malformation with occipital cephalocele, autosomal dominant 0 trials
  • De Sanctis-Cacchione syndrome 0 trials
  • Deafness with anhidrotic ectodermal dysplasia 0 trials
  • Deafness with labyrinthine aplasia, microtia, and microdontia 0 trials
  • Deafness, cataract, impaired intellectual development, and polyneuropathy 0 trials
  • Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 0 trials
  • Deafness, congenital heart defects, and posterior embryotoxon 0 trials
  • Deafness, congenital, and adult-onset progressive leukoencephalopathy 0 trials
  • Deafness, congenital, and familial myoclonic epilepsy 0 trials
  • Deafness, mid-tone neural 0 trials
  • Deafness, neural, congenital moderate 0 trials
  • Deafness, neural, with atypical atopic dermatitis 0 trials
  • Deafness, sensorineural, with peripheral neuropathy and arterial disease 0 trials
  • Deafness, unilateral, with delayed endolymphatic hydrops 0 trials
  • Deafness-ear malformation-facial palsy syndrome 0 trials
  • Deafness-epiphyseal dysplasia-short stature syndrome 0 trials
  • Deafness-small bowel diverticulosis-neuropathy syndrome 0 trials
  • Deafness-vitiligo-achalasia syndrome 0 trials
  • Deeah syndrome 0 trials
  • Dens evaginatus 0 trials
  • Dens in dente and palatal invaginations 0 trials
  • Dental radicular dysplasia 0 trials
  • Dentin dysplasia type I 0 trials Sub-types →
  • Dentin dysplasia type II 0 trials
  • Dentin dysplasia-sclerotic bones syndrome 0 trials
  • Dentinogenesis imperfecta type 2 0 trials Sub-types →
  • Dentinogenesis imperfecta type 3 0 trials
  • Deoxyribose-5-phosphate aldolase deficiency 0 trials
  • Dermal Ridges, patternless 0 trials
  • Developmental delay with dysmorphic facies and dental anomalies 0 trials
  • Developmental delay with hypotonia, myopathy, and brain abnormalities 0 trials
  • Developmental delay with or without dysmorphic facies and autism 0 trials
  • Developmental delay with or without epilepsy 0 trials
  • Developmental delay with or without intellectual impairment or behavioral abnormalities 0 trials
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 trials Sub-types →
  • Developmental delay with sleep apnea 0 trials
  • Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies 0 trials
  • Developmental delay with variable intellectual disability and dysmorphic facies 0 trials
  • Developmental delay with variable neurologic and brain abnormalities 0 trials
  • Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 trials
  • Developmental delay, dysmorphic facies, and brain anomalies 0 trials
  • Developmental delay, hypotonia, and impaired language 0 trials
  • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 trials
  • Developmental delay, impaired speech, and behavioral abnormalities 0 trials
  • Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 trials
  • Developmental delay, language impairment, and ocular abnormalities 0 trials
  • Dextrocardia with unusual facies and microphthalmia 0 trials
  • Diabetes mellitus, congenital autoimmune 0 trials
  • Diabetes, deafness, developmental delay, and short stature syndrome 0 trials
  • Diaminopentanuria 0 trials
  • Diarrhea, glucose-stimulated secretory, with common variable immunodeficiency 0 trials
  • Diencephalic-mesencephalic junction dysplasia 0 trials Sub-types →
  • Diffuse idiopathic skeletal hyperostosis 0 trials
  • Dilution, pigmentary 0 trials
  • Disabling pansclerotic morphea of childhood 0 trials
  • Discrimination, Two-point, reduction 1N 0 trials
  • Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability 0 trials
  • Disseminated sclerosis with narcolepsy 0 trials
  • Distal monosomy 10p 0 trials Sub-types →
  • Distal osteosclerosis 0 trials
  • Distal symphalangism 0 trials
  • Distichiasis with congenital anomalies of the heart and peripheral vasculature 0 trials
  • Double fingernail of fifth finger 0 trials
  • Double nail for fifth toe 0 trials
  • Duodenal ulcer due to antral G-cell hyperfunction 0 trials
  • Duodenal ulcer, hyperpepsinogenemic 1 0 trials
  • Duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery 0 trials
  • Dwarfism with stiff joints and ocular abnormalities 0 trials
  • Dwarfism with tall vertebrae 0 trials
  • Dwarfism, Levi type 0 trials
  • Dwarfism, familial, with muscle spasms 0 trials
  • Dwarfism, intellectual disability, and eye abnormality 0 trials
  • Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 0 trials
  • Dwarfism, proportionate, with hip dislocation 0 trials
  • Dyschromatosis, ichthyosis, deafness, and atopic disease 0 trials
  • Dysmorphism-cleft palate-loose skin syndrome 0 trials
  • Dysmyelination with jaundice 0 trials
  • Dysostosis multiplex, Ain-Naz type 0 trials
  • Dysraphism-cleft lip/palate-limb reduction defects syndrome 0 trials
  • Dystelephalangy 0 trials
  • Dystonia with Ringbinden 0 trials
  • Dystonia with cerebellar atrophy 0 trials
  • Dystonia, early-onset, and/or spastic paraplegia 0 trials
  • Ear antitragus, tag at base of 0 trials
  • Ear exostoses 0 trials
  • Ear folding 0 trials
  • Ear pits, posterior helical 0 trials
  • Early response to neural induction gene 0 trials
  • Early-onset familial hypoaldosteronism 0 trials
  • Eccrine syringofibroadenomatosis with eyelid abnormalities 0 trials
  • Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 0 trials
  • Ectodermal dysplasia with adrenal cyst 0 trials
  • Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0 trials
  • Ectodermal dysplasia with intellectual disability and syndactyly 0 trials
  • Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 0 trials
  • Ectopia lentis 1, isolated, autosomal dominant 0 trials
  • Ectopia lentis 2, isolated, autosomal recessive 0 trials
  • Ectopia lentis et pupillae 0 trials
  • Ectopia pupillae 0 trials
  • Ectrodactyly and ectodermal dysplasia without cleft lip/palate 0 trials
  • Ectrodactyly of lower limbs, congenital heart defect, and micrognathia 0 trials
  • Ectrodactyly-cleft palate syndrome 0 trials
  • Edema, familial idiopathic, prepubertal 0 trials
  • Electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon 0 trials
  • Emphysema, congenital, with deafness, penoscrotal web, and intellectual disability 0 trials
  • Emphysema, hereditary pulmonary 0 trials
  • Enamel hypoplasia, cataracts, and aqueductal stenosis 0 trials
  • Encephalitis, acute, infection-induced, susceptibility to, 12 0 trials
  • Encephalomalacia, multilocular 0 trials
  • Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 0 trials
  • Endocardial fibroelastosis and coarctation of abdominal aorta 0 trials
  • Endocrine-cerebro-osteodysplasia syndrome 0 trials
  • Endothelial dystrophy, congenital hereditary, with nail hypoplasia 0 trials
  • Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency 0 trials
  • Enuresis, nocturnal, 1 0 trials
  • Epidermoid cysts 0 trials
  • Epidermolysis bullosa with congenital localized absence of skin and deformity of nails 0 trials
  • Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase 0 trials
  • Epidermolysis bullosa with diaphragmatic hernia 0 trials
  • Epilepsy, partial, with pericentral spikes 0 trials
  • Epilepsy, photogenic, with spastic diplegia and intellectual disability 0 trials
  • Epiphyseal dysplasia of femoral head, myopia, and deafness 0 trials
  • Epiphyseal dysplasia, Baumann type 0 trials
  • Episodic muscle weakness, X-linked 0 trials
  • Epithelial basolateral chloride conductance regulator, rabbit, homolog of 0 trials
  • Epithelial recurrent erosion dystrophy 0 trials
  • Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract 0 trials
  • Erythema nodosum, familial 0 trials
  • Erythema of acral regions 0 trials
  • Esophageal ring, lower 0 trials
  • Esophagitis, eosinophilic, 2 0 trials
  • Estrogen resistance syndrome 0 trials
  • Ethanolaminosis 0 trials
  • Exchondrosis of pinna, posterior 0 trials
  • Exercise intolerance, riboflavin-responsive 0 trials
  • Exostoses-anetodermia-brachydactyly type E syndrome 0 trials
  • Exostosis, Dupuytren subungual 0 trials
  • Extraoral halitosis due to methanethiol oxidase deficiency 0 trials
  • Facial abnormalities, kyphoscoliosis, and intellectual disability 0 trials
  • Facial dysmorphism, cleft palate, hearing loss, and camptodactyly 0 trials
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 trials
  • Facial dysmorphism, selective tooth agenesis, and choroid calcification 0 trials
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 trials
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0 trials
  • Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0 trials
  • Facial paresis, hereditary congenital, 3 0 trials
  • Facial spasm 0 trials
  • Faciocardiomelic syndrome 0 trials
  • Faciothoracogenital syndrome 0 trials
  • Factor 9 and Factor XI, combined deficiency of 0 trials
  • Factor VIII and Factor IX, combined deficiency of 0 trials
  • Factors VIII, IX and XI, combined deficiency of 0 trials
  • Familial caudal dysgenesis 0 trials Sub-types →
  • Familial cavitary optic disk anomaly 0 trials
  • Familial cervical artery dissection 0 trials
  • Familial gestational hyperthyroidism 0 trials
  • Familial glucocorticoid deficiency 0 trials Sub-types →
  • Familial hyperthyroidism due to mutations in TSH receptor 0 trials
  • Familial lipochrome histiocytosis 0 trials
  • Familial monosomy 7 syndrome 0 trials Sub-types →
  • Familial parathyroid adenoma 0 trials
  • Familial partial paralysis 0 trials
  • Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
  • Familial supernumerary nipples 0 trials
  • Familial visceral myopathy 0 trials Sub-types →
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0 trials
  • Fever, familial lifelong persistent 0 trials
  • Fibromatosis, gingival, with hypertrichosis and intellectual disability 0 trials
  • Fibromuscular dysplasia, multifocal 0 trials
  • Fibrosclerosis, multifocal 0 trials
  • Fibrosis, neurodegeneration, and cerebral angiomatosis 0 trials
  • Fibula, recurrent dislocation of head of 0 trials
  • Flushing of ears and somnolence 0 trials
  • Focal epithelial hyperplasia 0 trials
  • Focal epithelial hyperplasia of the oral mucosa 0 trials
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0 trials
  • Follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts 0 trials
  • Forsythe-wakeling syndrome 0 trials
  • Fragile site 10Q23 0 trials
  • Frontoocular syndrome 0 trials
  • Fructose and galactose intolerance 0 trials
  • Fucosidase regulator 0 trials
  • Fucosyltransferase 6 deficiency 0 trials
  • Fused mandibular incisors 0 trials
  • Gamma-A-globulin, defect in assembly of 0 trials
  • Gastric mucosal hypertrophy 0 trials
  • Gastric volvulus, intrathoracic 0 trials
  • Gelatinous drop-like corneal dystrophy 0 trials
  • Genitourinary and/or brain malformation syndrome 0 trials
  • Giant neutrophil leukocytes 0 trials
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 0 trials
  • Global developmental delay with speech and behavioral abnormalities 0 trials
  • Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 trials
  • Global developmental delay, progressive ataxia, and elevated glutamine 0 trials
  • Globulin anomaly involving beta (2A)-globulin 0 trials
  • Glomuvenous malformation 0 trials
  • Glucocorticoid therapy, response to 0 trials
  • Glucose-6-phosphate dehydrogenase-like 0 trials
  • Glutamic acid decarboxylase, brain, membrane form 0 trials
  • Glutamyl ribose-5-phosphate storage disease 0 trials
  • Glutathione transferase activity toward trans-stilbene oxide 0 trials
  • Gluteal muscles, absence of 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 21 0 trials
  • Gonadal agenesis 0 trials
  • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0 trials
  • Granddad syndrome 0 trials
  • Grange syndrome 0 trials
  • Granulocytopenia with immunoglobulin abnormality 0 trials
  • Granulomas, congenital cerebral 0 trials
  • Granulosis rubra nasi 0 trials
  • Growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia 0 trials
  • Growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 0 trials
  • Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0 trials
  • Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
  • Guanylate cyclase 2E 0 trials
  • Guanylate kinase 3 0 trials
  • Hairy ears, Y-linked 0 trials
  • Hairy nose tip 0 trials
  • Hairy palms and soles 0 trials
  • Hamartoma, Precalcaneal congenital fibrolipomatous 0 trials
  • Hand clasping pattern 0 trials
  • Headache associated with sexual activity 0 trials
  • Hearing loss, noise-induced, susceptibility to 0 trials
  • Heart and brain malformation syndrome 0 trials
  • Heart-hand syndrome 0 trials Sub-types →
  • Hemangiomatosis, cutaneous, with associated features 0 trials
  • Hemifacial myohyperplasia 0 trials
  • Hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain 0 trials
  • Hemolytic poikilocytic anemia due to reduced ankyrin binding sites 0 trials
  • Hemopoietic proliferation 0 trials
  • Hepatic adenomas, familial 0 trials
  • Hepatic veno-occlusive disease-immunodeficiency syndrome 0 trials
  • Hepatorenocardiac degenerative fibrosis 0 trials
  • Hereditary fallopian tube carcinoma 0 trials
  • Hereditary hyperferritinemia with congenital cataracts 0 trials
  • Hereditary hypotrichosis with recurrent skin vesicles 0 trials
  • Hereditary neuro-ophthalmological disease 0 trials
  • Hereditary neuroendocrine tumor of small intestine 0 trials
  • Hereditary neutrophilia 0 trials
  • Hereditary sensory and autonomic neuropathy with deafness and global delay 0 trials
  • Heterochromia iridis 0 trials
  • High myopia-sensorineural deafness syndrome 0 trials
  • Histiocytic dermatoarthritis 0 trials
  • Holoprosencephaly, recurrent infections, and monocytosis 0 trials
  • Humero-radio-ulnar synostosis 0 trials Sub-types →
  • Humerofemoral hypoplasia with radiotibial ray deficiency 0 trials
  • Humeroradial synostosis 0 trials Sub-types →
  • Humerus trochlea aplasia 0 trials
  • Hyaluronan metabolism, defect 1N 0 trials
  • Hydrocephalus, congenital communicating, 1 0 trials
  • Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 0 trials
  • Hydroxyacyl glutathione hydrolase deficiency 0 trials
  • Hydroxyprolinemia 0 trials
  • Hymen, imperforate 0 trials
  • Hyperbiliverdinemia 0 trials
  • Hypercalciuria, absorptive, 2 0 trials
  • Hyperglycinuria 0 trials
  • Hyperheparinemia 0 trials
  • Hyperimmunoglobulin G1(A1) syndrome 0 trials
  • Hyperleucine-Isoleucinemia 0 trials
  • Hyperlipoproteinemia, type II, and deafness 0 trials
  • Hyperlysinuria with hyperammonemia 0 trials
  • Hypermetabolism due to defect in mitochondria 0 trials
  • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 0 trials
  • Hyperopia, high 0 trials
  • Hyperostosis cranialis interna 0 trials
  • Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 0 trials
  • Hyperphosphatemia, polyuria, and seizures 0 trials
  • Hyperpigmentation of Fuldauer and Kuijpers 0 trials
  • Hyperproglucagonemia 0 trials
  • Hyperproinsulinemia 0 trials
  • Hypersecretion of adrenal androgens, familial 0 trials
  • Hypersulfaturia 0 trials
  • Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes 0 trials
  • Hypertelorism and tetralogy of fallot 0 trials
  • Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 0 trials
  • Hyperthermia, cutaneous, with headaches and nausea 0 trials
  • Hyperthyroxinemia, dystransthyretinemic 0 trials
  • Hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency 0 trials
  • Hyperthyroxinemia, familial dysalbuminemic 0 trials
  • Hypertrophia musculorum vera 0 trials
  • Hypertrophic neuropathy and cataract 0 trials
  • Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase 0 trials
  • Hypoglycemia, leucine-induced 0 trials
  • Hypogonadism with low-grade mental deficiency and microcephaly 0 trials
  • Hypohidrosis with abnormal palmar dermal Ridges 0 trials
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 trials
  • Hypokalemic alkalosis, familial, with specific renal tubulopathy 0 trials
  • Hypokalemic tubulopathy and deafness 0 trials
  • Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 0 trials
  • Hypophosphatemia, renal, with intracerebral calcifications 0 trials
  • Hypophosphatemic bone disease 0 trials
  • Hypophosphatemic rickets and hyperparathyroidism 0 trials
  • Hypopigmentation, organomegaly, and delayed myelination and development 0 trials
  • Hypopituitarism, congenital, with central diabetes insipidus 0 trials
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 trials
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 0 trials
  • Hypotaurinemic retinal degeneration and cardiomyopathy 0 trials
  • Hypotonia, ataxia, and delayed development syndrome 0 trials
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 trials
  • Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 0 trials
  • Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0 trials
  • Hypotonia, seizures, and precocious puberty 0 trials
  • Hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 0 trials
  • Hypoxanthine guanine phosphoribosyltransferase suppressor 0 trials
  • Ichthyosis and male hypogonadism 0 trials
  • Ichthyosis congenita with biliary atresia 0 trials
  • Ichthyosis, split hairs, and amino aciduria 0 trials
  • Ichthyosis-cheek-eyebrow syndrome 0 trials
  • Ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin 0 trials
  • Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0 trials
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 0 trials
  • Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency 0 trials
  • Immune dysregulation, autoimmunity, and autoinflammation 0 trials
  • Immune dysregulation, neurodevelopmental defects, and colitis 0 trials
  • Immunodeficiency 28 0 trials
  • Immunodeficiency 37 0 trials Sub-types →
  • Immunodeficiency 39 0 trials
  • Immunodeficiency 47 0 trials
  • Immunodeficiency with defective T-cell response to interleukin 1 0 trials
  • Immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein 0 trials
  • Immunodeficiency, developmental delay, and hypohomocysteinemia 0 trials
  • Immunoglobulin M, level of 0 trials
  • Immunoglobulin d level in plasma, low 0 trials
  • Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
  • Imprinting gene related to retinoblastoma 0 trials
  • Incisors, lower central, absence of 0 trials
  • Incisors, rotation of upper central 0 trials
  • Incisors, shovel-shaped 0 trials
  • Indolylacroyl glycinuria with intellectual disability 0 trials
  • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 0 trials
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 trials
  • Inherited hypertrophic pyloric stenosis 0 trials Sub-types →
  • Inherited isolated nail anomaly 0 trials Sub-types →
  • Inherited oocyte maturation defect 0 trials Sub-types →
  • Inosine phosphorylase deficiency, immune defect due to 0 trials
  • Insensitivity to pain with hyperplastic Myelinopathy 0 trials
  • Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 trials
  • Intellectual developmental disorder with autism and dysmorphic facies 0 trials
  • Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 trials
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 trials
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 trials
  • Intellectual developmental disorder with hypertelorism and distinctive facies 0 trials
  • Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 trials
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 trials
  • Intellectual developmental disorder with impaired language and dysmorphic facies 0 trials
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 trials
  • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0 trials
  • Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0 trials
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 trials
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 trials
  • Intellectual developmental disorder with or without peripheral neuropathy 0 trials
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 trials
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 trials
  • Intellectual developmental disorder with seizures and dysmorphic facies 0 trials
  • Intellectual developmental disorder with seizures and language delay 0 trials
  • Intellectual developmental disorder with short stature and behavioral abnormalities 0 trials
  • Intellectual developmental disorder with short stature and variable skeletal anomalies 0 trials
  • Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0 trials
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 trials
  • Intellectual developmental disorder, autosomal dominant 77 0 trials
  • Intellectual developmental disorder, autosomal recessive 84 0 trials
  • Intellectual disability and myopathy syndrome 0 trials
  • Intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature 0 trials
  • Intellectual disability, FRA12A type 0 trials
  • Intellectual disability, anterior maxillary protrusion, and strabismus 0 trials
  • Intellectual disability, keratoconus, febrile seizures, and sinoatrial block 0 trials
  • Intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism 0 trials
  • Intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration 0 trials
  • Intellectual disability, short stature, facial anomalies, and joint dislocations 0 trials
  • Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
  • Intellectual disability-strabismus syndrome 0 trials
  • Interferon antiviral depressor 0 trials
  • Internal carotid arteries, hypoplasia of 0 trials
  • Internal carotid artery, spontaneous dissection of 0 trials
  • Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 trials
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0 trials
  • Iridogoniodysgenesis and skeletal anomalies 0 trials
  • Iris pattern 0 trials
  • Iris pigment epithelium anomalies 0 trials
  • Iris pigment layer, cleavage of 0 trials
  • Ischio-vertebral syndrome 0 trials
  • Isolated aniridia 0 trials Sub-types →
  • Isolated cryptophthalmia 0 trials Sub-types →
  • Isolated hyperferritinemia 0 trials
  • Isolated neonatal sclerosing cholangitis 0 trials
  • Isolated right ventricular hypoplasia 0 trials
  • Isoproterenol-mediated vasodilatation 0 trials
  • Isovaleric acid, inability to smell 0 trials
  • Jaundice, familial obstructive, of infancy 0 trials Sub-types →
  • Jejunal atresia with renal adysplasia 0 trials
  • Joint contractures, osteochondromas, and B-cell lymphoma 0 trials
  • Kallikrein, decreased urinary activity of 0 trials
  • Keloid formation 0 trials
  • Keratitis fugax hereditaria 0 trials
  • Keratoconus and congenital hip dysplasia 0 trials
  • Keratoconus posticus circumscriptus 0 trials
  • Keratoderma hereditarium mutilans 0 trials
  • Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 0 trials
  • Keratosis, familial actinic 0 trials
  • Knuckle pads 0 trials
  • Labia minora, incomplete adhesion of 0 trials
  • Lactic acidosis, chronic adult form 0 trials
  • Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 0 trials
  • Laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy 0 trials
  • Laryngeal atresia, encephalocele, and limb deformities 0 trials
  • Lateral semicircular canal malformation, familial, with external and middle ear abnormalities 0 trials
  • Lattice degeneration of retina leading to retinal detachment 0 trials
  • Leg ulcers, familial, of juvenile onset 0 trials
  • Lentiginosis, centrofacial neurodysraphic 0 trials
  • Lessel-kubisch syndrome 0 trials
  • Lethal faciocardiomelic dysplasia 0 trials
  • Lethal polymalformative syndrome, Boissel type 0 trials
  • Lethal recessive chondrodysplasia 0 trials
  • Leukemia, acute myelocytic, with polyposis coli and colon cancer 0 trials
  • Leukocyte nuclear appendages, hereditary prevalence of 0 trials
  • Leukodystrophy and acquired microcephaly with or without dystonia; 0 trials
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0 trials
  • Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema 0 trials
  • Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 trials
  • Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0 trials
  • Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 trials
  • Limb transversal defect-cardiac anomaly syndrome 0 trials
  • Lip, hamartomatous 0 trials
  • Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 0 trials
  • Lipoprotein types--Lt system 0 trials
  • Lipoprotein, variant of beta 0 trials
  • Lissencephaly, familial, with cleft palate and cerebellar hypoplasia 0 trials
  • Lithium transport 0 trials
  • Liver disease, severe congenital 0 trials
  • Liver fibrocystic disease and polydactyly 0 trials
  • Long chain fatty acids, defect in transport of 0 trials
  • Low density lipoprotein, variation in molecular weight of 0 trials
  • Lung disease, immunodeficiency, and chromosome breakage syndrome; 0 trials
  • Lymphedema-posterior choanal atresia syndrome 0 trials
  • Lymphoid system deterioration, progressive 0 trials
  • Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis 0 trials
  • Lysine malabsorption syndrome 0 trials
  • Macrocephaly, acquired, with impaired intellectual development 0 trials
  • Macrocephaly, benign familial 0 trials
  • Macrocephaly, dysmorphic facies, and psychomotor retardation 0 trials Sub-types →
  • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 trials
  • Macrocephaly-developmental delay syndrome 0 trials
  • Macrocytosis, familial 0 trials
  • Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 0 trials
  • Macrosomia adiposa congenita 0 trials
  • Magnesium, elevated red cell 0 trials
  • Maleylacetoacetate isomerase deficiency 0 trials
  • Malocclusion and short stature 0 trials
  • Mammary-digital-nail syndrome 0 trials
  • Mandibulofacial dysostosis syndrome, Bauru type 0 trials
  • Mandibulofacial dysostosis with alopecia 0 trials
  • Mandibulofacial dysostosis with mental deficiency 0 trials
  • Mandibulofacial dysostosis with ptosis, autosomal dominant 0 trials
  • Mannose 6-phosphate receptor recognition defect, Lebanese type 0 trials
  • Marfanoid habitus with situs inversus 0 trials
  • Marfanoid hypermobility syndrome 0 trials
  • Maxillofacial dysostosis 0 trials
  • Mediosternal depigmentation line 0 trials
  • Medium chain 3-ketoacyl-Coa thiolase deficiency 0 trials
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 trials
  • Megabladder, congenital 0 trials
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 0 trials Sub-types →
  • Megaepiphyseal dwarfism 0 trials
  • Megalencephaly with dysmyelination 0 trials
  • Megalencephaly-polydactyly syndrome 0 trials
  • Megalocornea 0 trials Sub-types →
  • Melanoma tumor antigen Gp90 0 trials
  • Menstrual cycle-dependent periodic fever 0 trials
  • Mental and growth retardation with amblyopia 0 trials
  • Mesoaxial hexadactyly and cardiac malformation 0 trials
  • Mesomelic dwarfism of hypoplastic tibia and radius type 0 trials
  • Mesomelic dysplasia, camera type 0 trials
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 0 trials
  • Metachondromatosis 0 trials
  • Metachromasia of fibroblasts 0 trials
  • Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands 0 trials
  • Metaphyseal chondrodysplasia, Pena type 0 trials
  • Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 0 trials
  • Metaphyseal dysplasia, anetoderma, and optic atrophy 0 trials
  • Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia 0 trials
  • Metaphyseal undermodeling, spondylar dysplasia, and overgrowth 0 trials
  • Metatarsus varus, type 1 0 trials
  • Methionine malabsorption syndrome 0 trials
  • Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 0 trials
  • Microcephaly, corpus callosum dysgenesis, and cleft lip/palate 0 trials
  • Microcephaly, developmental delay, and brittle hair syndrome 0 trials
  • Microcephaly, epilepsy, and diabetes syndrome 0 trials Sub-types →
  • Microcephaly, facial abnormalities, micromelia, and intellectual disability 0 trials
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 trials
  • Microcephaly, growth deficiency, seizures, and brain malformations 0 trials
  • Microcephaly, growth restriction and increased sister chromatid exchange 0 trials Sub-types →
  • Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 0 trials
  • Microcephaly, macrotia, and intellectual disability 0 trials
  • Microcephaly, retinitis pigmentosa, and sutural cataract 0 trials
  • Microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects 0 trials
  • Microcephaly, short stature, and impaired glucose metabolism 0 trials Sub-types →
  • Microcephaly, short stature, and limb abnormalities 0 trials
  • Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
  • Microcephaly-capillary malformation syndrome 0 trials
  • Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 0 trials
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 trials
  • Microcephaly-micromelia syndrome 0 trials
  • Microcephaly-thin corpus callosum-intellectual disability syndrome 0 trials
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 0 trials
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 0 trials
  • Microphthalmia with cyst, bilateral facial clefts, and limb anomalies 0 trials
  • Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 0 trials
  • Microphthalmia, isolated, with corectopia 0 trials
  • Microspherophakia with hernia 0 trials
  • Microspherophakia-metaphyseal dysplasia syndrome 0 trials
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 trials
  • Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 0 trials
  • Midline malformations, multiple, with limb abnormalities and hypopituitarism 0 trials
  • Milia, multiple eruptive 0 trials
  • Mitochondrial complex 1 deficiency, nuclear type 35 0 trials
  • Mitochondrial import-stimulating factor 0 trials
  • Mitochondrial intermembrane space protein Tim12, yeast, homolog of 0 trials
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 trials
  • Monosodium glutamate sensitivity 0 trials
  • Mucocutaneous ulceration, chronic 0 trials
  • Mucus inspissation of respiratory tract 0 trials
  • Mullerian aplasia and hyperandrogenism 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 0 trials Sub-types →
  • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 trials
  • Multiple exostoses with spastic tetraparesis 0 trials
  • Multiple fibroadenoma of the breast 0 trials
  • Multiple synostoses syndrome 0 trials Sub-types →
  • Muscle cramps, familial 0 trials
  • Muscular atrophy, malignant neurogenic 0 trials
  • Muscular dystrophy, adult-onset, with leukoencephalopathy 0 trials
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0 trials
  • Muscular dystrophy, congenital, with cerebellar atrophy 0 trials
  • Muscular dystrophy, congenital, with or without seizures 0 trials
  • Muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers 0 trials
  • Muscular hypoplasia, congenital universal, of Krabbe 0 trials
  • Musk, inability to smell 0 trials
  • Myelinated optic nerve fibers 0 trials
  • Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay 0 trials
  • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 0 trials
  • Myeloid tumor suppressor 0 trials
  • Myelolymphatic insufficiency 0 trials
  • Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 0 trials
  • Myopathy due to malate-aspartate shuttle defect 0 trials
  • Myopathy with giant abnormal mitochondria 0 trials
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 0 trials
  • Myopathy with storage of glycoproteins and Glycosaminoglycans 0 trials
  • Myopathy, congenital, with excess of muscle spindles 0 trials
  • Myopathy, granulovacuolar lobular, with electrical myotonia 0 trials
  • Nanophthalmia 0 trials Sub-types →
  • Nasal bones, absence of 0 trials
  • Nasal groove, familial transverse 0 trials
  • Nasal hyperpigmentation, familial transverse 0 trials
  • Nephropathy - deafness - hyperparathyroidism syndrome 0 trials
  • Nephropathy, chronic tubulointerstitial 0 trials
  • Nephropathy, progressive, with deafness 0 trials
  • Neurocardiofaciodigital syndrome 0 trials
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 trials
  • Neurodevelopmental, jaw, eye, and digital syndrome 0 trials
  • Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 trials
  • Neuroectodermal melanolysosomal disease 0 trials
  • Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 0 trials
  • Neurofacioskeletal syndrome with or without renal agenesis 0 trials
  • Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 0 trials
  • Neurologic disease, infantile multisystem, with osseous fragility 0 trials
  • Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 trials
  • Neurooculocardiogenitourinary syndrome 0 trials
  • Neurooculorenal syndrome 0 trials
  • Neuropathy, congenital, with arthrogryposis multiplex 0 trials
  • Neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive 0 trials
  • Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia 0 trials
  • Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine 0 trials
  • Nevus anemicus 0 trials
  • Nevus flammeus of nape of neck 0 trials
  • Nipples inverted 0 trials
  • Noduli Cutanei, multiple, with urinary tract abnormalities 0 trials
  • Nondisjunction 0 trials
  • Nuclear ribonucleic acid 0 trials
  • Obesity and hypopigmentation 0 trials
  • Obesity, hyperphagia, and developmental delay 0 trials
  • Occipital hair, white lock of 0 trials
  • Ocular myopathy with curare sensitivity 0 trials
  • Ocular pterygium-digital keloid dysplasia syndrome 0 trials
  • Oculocerebrofacial syndrome, Kaufman type 0 trials
  • Oculogastrointestinal-neurodevelopmental syndrome 0 trials
  • Oculomaxillofacial dysostosis 0 trials Sub-types →
  • Oculomotor-abducens synkinesis 0 trials
  • Oculopharyngeal myopathy with leukoencephalopathy 1 0 trials
  • Oculorenocerebellar syndrome 0 trials
  • Oculotrichoanal syndrome 0 trials
  • Oculovertebral syndrome 0 trials
  • Odontoid hypoplasia 0 trials
  • Oligodontia-cancer predisposition syndrome 0 trials
  • Olivopontocerebellar atrophy II, autosomal recessive 0 trials
  • Omphalocele, X-linked 0 trials
  • Omphalocele, autosomal 0 trials
  • Omphalocele, diaphragmatic hernia, and radial ray defects 0 trials
  • Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 0 trials
  • Onychogryposis, pedal, with keratosis plantaris and coarse hair 0 trials
  • Ophthalmomandibulomelic dysplasia 0 trials
  • Ophthalmoplegia totalis with ptosis and miosis 0 trials
  • Ophthalmoplegia, external, and myopia 0 trials
  • Ophthalmoplegia, external, with rib and vertebral anomalies 0 trials
  • Ophthalmoplegia, familial static 0 trials
  • Ophthalmoplegia, familial total, with iris transillumination 0 trials
  • Ophthalmoplegic neuromuscular disorder with abnormal mitochondria 0 trials
  • Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 0 trials
  • Optic atrophy--spastic paraplegia syndrome 0 trials
  • Oral sensibility, disturbance of 0 trials
  • Orofaciodigital syndrome 0 trials Sub-types →
  • Oromandibular-limb hypogenesis syndrome 0 trials Sub-types →
  • Orthostatic hypotensive disorder, Streeten type 0 trials
  • Ossicular malformations, familial 0 trials
  • Ossified ear cartilages 0 trials
  • Osteochondrodysplasia, brachydactyly, and overlapping malformed digits 0 trials
  • Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 0 trials
  • Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
  • Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski 0 trials
  • Osteoma of cranial vault, familial 0 trials
  • Osteoma of middle ear 0 trials
  • Osteootohepatoenteric syndrome 0 trials
  • Osteoporosis, childhood- or juvenile-onset, with developmental delay 0 trials
  • Osteoporosis-oculocutaneous hypopigmentation syndrome 0 trials
  • Osteosclerosis with ichthyosis and fractures 0 trials
  • Osteosclerotic chondrodysplasia, lethal, with intracellular inclusions 0 trials
  • Otofaciocervical syndrome 0 trials Sub-types →
  • Otofacioosseous-gonadal syndrome 0 trials
  • Otoonychoperoneal syndrome 0 trials
  • Ovalocytosis, hereditary hemolytic, with defective erythropoiesis 0 trials
  • Ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 0 trials
  • Pachydermodactyly, familial 0 trials
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 trials
  • Palant cleft palate syndrome 0 trials
  • Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 trials
  • Palmaris longus muscle, absence of 0 trials
  • Pancreatic beta cell agenesis with neonatal diabetes mellitus 0 trials
  • Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 trials
  • Pancreatic lymphoma, familial 0 trials
  • Pancreatitis, sclerosing cholangitis, and sicca complex 0 trials
  • Pancytopenia and occlusive vascular disease 0 trials
  • Papillomatosis, florid, of nipple 0 trials
  • Parotid salivary glands, polycystic dysgenetic disease of 0 trials
  • Parotitis, juvenile recurrent 0 trials
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 0 trials
  • Patella aplasia/hypoplasia 0 trials Sub-types →
  • Patent ductus venosus 0 trials
  • Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
  • Pellagra-like syndrome 0 trials
  • Pelvic lipomatosis with crossed renal ectopia 0 trials
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome 0 trials
  • Peripapillary atrophy, beta type 0 trials
  • Peripheral cone dystrophy 0 trials
  • Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain 0 trials
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0 trials
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 trials
  • Peroneal nerve, accessory deep 0 trials
  • Peroneus tertius muscle, absence of 0 trials
  • Peroxidase, salivary 0 trials
  • Phagocytosis, plasma-related defect 1N 0 trials
  • Phenformin 4-hydroxylation 0 trials
  • Pheochromocytoma-islet cell tumor syndrome 0 trials
  • Phlebectasia of lips 0 trials
  • Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 0 trials
  • Phosphatase, acid, of tissues 0 trials
  • Phosphoglucomutase 4 0 trials
  • Phosphoglycoprotein 1 0 trials
  • Phosphohydroxylysinuria 0 trials
  • Phosphoribosylaminoimidazole carboxylase deficiency 0 trials
  • Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction 0 trials
  • Pigmented purpuric eruption 0 trials
  • Pituitary dwarfism with large sella turcica 0 trials
  • Plasma clot retraction factor, deficiency of 0 trials
  • Plasma fibronectin deficiency 0 trials
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 trials
  • Platelet adenylate cyclase activity 0 trials
  • Platelet disorder, undefined 0 trials
  • Platelet factor 3 deficiency 0 trials
  • Platelet prostacyclin receptor defect 0 trials
  • Platelet responsiveness to adrenaline, depressed 0 trials
  • Platelet signal processing defect 0 trials
  • Platelet-activating factor acetylhydrolase deficiency 0 trials
  • Pleoconial myopathy with salt craving 0 trials
  • Polycystic bone disease 0 trials
  • Polycystic kidney, cataract, and congenital blindness 0 trials
  • Polydactyly-macrocephaly syndrome 0 trials
  • Polyhydramnios, chronic idiopathic 0 trials
  • Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 trials
  • Polymyoclonus, infantile 0 trials
  • Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive 0 trials
  • Polyposis of gastric fundus without polyposis coli 0 trials
  • Polyposis, intestinal, scattered and discrete 0 trials
  • Polyposis, intestinal, with multiple exostoses 0 trials
  • Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 trials
  • Polysaccharide, storage of unusual 0 trials
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 trials Sub-types →
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 trials
  • Postaxial tetramelic oligodactyly 0 trials
  • Posterior column ataxia 0 trials
  • Preauricular fistulae, congenital 0 trials
  • Preauricular tag, isolated, autosomal dominant, 1 0 trials
  • Premature chromatid separation trait 0 trials
  • Presenile dementia, Kraepelin type 0 trials
  • Priapism, familial idiopathic 0 trials
  • Primary hypertrophic osteoarthropathy 0 trials Sub-types →
  • Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 0 trials
  • Primary intraosseous venous malformation 0 trials
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome 0 trials
  • Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
  • Progressive non-infectious anterior vertebral fusion 0 trials
  • Prolactin deficiency with obesity and enlarged testes 0 trials
  • Pronation-supination of the forearm, impairment of 0 trials
  • Properdin deficiency, X-linked 0 trials
  • Prostate cancer aggressiveness quantitative trait locus on chromosome 19 0 trials
  • Protein Z deficiency 0 trials
  • Proteinuria, chronic benign 0 trials
  • Proteolytic capacity of plasma 0 trials
  • Protocadherin 3 0 trials
  • Prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness 0 trials
  • Pruritus, hereditary localized 0 trials
  • Pseudoacromegaly with severe insulin resistance 0 trials
  • Pseudoarthrogryposis 0 trials
  • Pseudohyperaldosteronism type 2 0 trials
  • Pseudomonilethrix 0 trials
  • Pseudoxanthoma elasticum, forme fruste 0 trials
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 trials
  • Pterygium colli, isolated 0 trials
  • Pubic bone dysplasia 0 trials
  • Pulmonary alveolar microlithiasis 0 trials
  • Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 trials
  • Pulmonary bullae causing pneumothorax 0 trials
  • Pulmonary venoocclusive disease 0 trials Sub-types →
  • Pulmonic stenosis and congenital nephrosis 0 trials
  • Pulmonic stenosis and deafness 0 trials
  • Pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 0 trials
  • Pupillary membrane, persistence of 0 trials
  • Purpura simplex 0 trials
  • Pyloric atresia 0 trials
  • Radial deficiency-tibial hypoplasia syndrome 0 trials
  • Radial heads, posterior dislocation of 0 trials
  • Radial ray deficiency, X-linked 0 trials
  • Radiation sensitivity of natural killer activity 0 trials
  • Radiculoneuropathy, fatal neonatal 0 trials
  • Radio-renal syndrome 0 trials
  • Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 0 trials
  • Radius, aplasia of, with cleft lip/palate 0 trials
  • Raindrop hypopigmentation 0 trials
  • Recombinant 8 syndrome 0 trials
  • Recurrent infections associated with rare immunoglobulin isotypes deficiency 0 trials
  • Red cell permeability defect 0 trials
  • Red cell phospholipid defect with hemolysis 0 trials
  • Red skin pigment anomaly of new guinea 0 trials
  • Renal and mullerian duct hypoplasia 0 trials
  • Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies 0 trials
  • Renal-hepatic-pancreatic dysplasia 0 trials Sub-types →
  • Respiratory infections, recurrent, and failure to thrive with or without diarrhea 0 trials
  • Respiratory papillomatosis, juvenile recurrent, congenital 0 trials
  • Respiratory underresponsiveness to hypoxia and hypercapnia 0 trials
  • Restrictive dermopathy 0 trials Sub-types →
  • Reticuloendotheliosis, X-linked 0 trials
  • Retinal degeneration and epilepsy 0 trials
  • Retinal dystrophy and microvillus inclusion disease 0 trials
  • Retinal dystrophy with leukodystrophy 0 trials
  • Retinal dystrophy with or without macular staphyloma 0 trials
  • Retinal telangiectasia and hypogammaglobulinemia 0 trials
  • Retinal venous beading 0 trials
  • Retinitis pigmentosa 89 0 trials
  • Retinitis pigmentosa and erythrocytic microcytosis 0 trials
  • Retinitis pigmentosa inversa with deafness 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
  • Retinopathy, pigmentary, and intellectual disability 0 trials
  • Rhabdomyosarcoma, embryonal, 2 0 trials
  • Rhiny 0 trials
  • Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 0 trials
  • Rhizomelic limb shortening with dysmorphic features 0 trials
  • Ribbing disease 0 trials
  • Right pulmonary artery, anomalous origin of, familial 0 trials
  • Ring dermoid of cornea 0 trials
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 0 trials
  • Salivary duct calculi 0 trials
  • Salivary substance, Clostridium botulinum type 0 trials
  • Sandestig-stefanova syndrome 0 trials
  • Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 0 trials
  • Sebaceous gland hyperplasia, familial presenile 0 trials
  • Second metatarsal-metacarpal syndrome 0 trials
  • Secretory diarrhea, myopathy, and deafness 0 trials
  • Seizures, early-onset, with neurodegeneration and brain calcifications 0 trials
  • Sella turcica, bridged 0 trials
  • Senile plaque formation 0 trials
  • Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 0 trials
  • Serpinopathy 0 trials
  • Setting-Sun phenomenon, familial benign 0 trials
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 trials
  • Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 trials
  • Sex-linked disease 0 trials
  • Short stature and Facioauriculothoracic malformations 0 trials
  • Short stature and microcephaly with genital anomalies 0 trials
  • Short stature due to GHSR deficiency 0 trials
  • Short stature due to primary acid-labile subunit deficiency 0 trials
  • Short stature with nonspecific skeletal abnormalities 0 trials Sub-types →
  • Short stature, Brussels type 0 trials
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 0 trials
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0 trials Sub-types →
  • Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies 0 trials
  • Short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting 0 trials
  • Short stature, oligodontia, dysmorphic facies, and motor delay 0 trials
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 trials
  • Short stature-obesity syndrome 0 trials
  • Shoulder and thorax deformity-congenital heart disease syndrome 0 trials
  • Sister chromatid exchange, frequency of 0 trials
  • Skeletal defects, genital hypoplasia, and intellectual disability 0 trials
  • Skeletal dysplasia and progressive central nervous system degeneration, lethal 0 trials
  • Skeletal dysplasia with delayed epiphyseal and carpal bone ossification 0 trials
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 trials
  • Skeletal dysplasia, rhizomelic, with retinitis pigmentosa 0 trials
  • Snijders blok-fisher syndrome 0 trials
  • Sodium-potassium-ATPase activity of red cell 0 trials
  • Spastic diplegia and intellectual disability 0 trials
  • Spastic paraparesis-cataracts-speech delay syndrome 0 trials
  • Spastic paraparesis-deafness syndrome 0 trials
  • Spastic paraplegia and Evans syndrome 0 trials
  • Spastic paraplegia with associated extrapyramidal signs 0 trials
  • Spastic paraplegia with myoclonic epilepsy 0 trials
  • Spastic paraplegia, ataxia, and intellectual disability 0 trials
  • Spastic paraplegia, mitochondrial 0 trials
  • Spastic paraplegia, optic atrophy, and dementia 0 trials
  • Spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal 0 trials
  • Spastic tetraplegia and axial hypotonia, progressive 0 trials
  • Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0 trials
  • Specific granule deficiency 0 trials Sub-types →
  • Sperm protamine P4 0 trials
  • Sperm-specific antigen 1 0 trials
  • Spinal dysplasia, Anhalt type 0 trials
  • Spinal muscular atrophy with intellectual disability 0 trials
  • Spinal muscular atrophy with microcephaly and mental subnormality 0 trials
  • Spinal muscular atrophy, infantile, James type 0 trials
  • Spinocerebellar ataxia with rigidity and peripheral neuropathy 0 trials
  • Spinocerebellar atrophy with pupillary paralysis 0 trials
  • Splenogonadal fusion-limb defects-micrognathia syndrome 0 trials
  • Splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells 0 trials
  • Splenoportal vascular anomalies 0 trials
  • Split lower lip 0 trials
  • Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
  • Split-hand and split-foot with hypodontia 0 trials
  • Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
  • Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
  • Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness 0 trials
  • Spondylometaphyseal dysplasia with corneal dystrophy 0 trials
  • Sternum, premature obliteration of sutures of 0 trials
  • Storm syndrome 0 trials
  • Streptococcus, group A, severity of infection by 0 trials
  • Structural brain anomalies with impaired intellectual development and craniosynostosis 0 trials
  • Structural heart defects and renal anomalies syndrome 0 trials
  • Subaortic stenosis, membranous 0 trials
  • Succinic acidemia 0 trials
  • Sucrosuria, hiatus hernia and intellectual disability 0 trials
  • Sudden cardiac failure, alcohol-induced 0 trials
  • Sudden cardiac failure, infantile 0 trials
  • Sudden infant death-dysgenesis of the testes syndrome 0 trials
  • Superior transverse scapular ligament, calcification of, familial 0 trials
  • Supernumerary der(22)t(8;22) syndrome 0 trials
  • Suppressor of tumorigenicity 3 0 trials
  • Surface antigen, glycoprotein 75 0 trials
  • Surface polypeptides, anonymous 0 trials
  • Symphalangism of toes 0 trials
  • Symphalangism with multiple anomalies of hands and feet 0 trials
  • Symphalangism, C. S. Lewis type 0 trials
  • Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 0 trials
  • Syndesmodysplasic dwarfism 0 trials
  • Syndromic multisystem autoimmune disease due to ITCH deficiency 0 trials
  • Syngnathia multiple anomalies 0 trials
  • Syngnathia-cleft palate syndrome 0 trials
  • Synovial chondromatosis, familial, with dwarfism 0 trials
  • Syringomas, multiple 0 trials
  • Tall stature-intellectual disability-renal anomalies syndrome 0 trials
  • Talonavicular coalition 0 trials
  • Taurodontism, microdontia, and dens invaginatus 0 trials
  • Tear protein, anodal 0 trials
  • Teeth present at birth 0 trials
  • Teeth, fused 0 trials
  • Teeth, odd shapes of 0 trials
  • Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 0 trials
  • Temperature-sensitive lethal mutation 0 trials
  • Temtamy syndrome 0 trials
  • Testes, rudimentary 0 trials
  • Testicular anomalies with or without congenital heart disease 0 trials
  • Testicular microlithiasis 0 trials
  • Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 0 trials
  • Tetraamelia-multiple malformations syndrome 0 trials Sub-types →
  • Tetralogy of fallot and glaucoma 0 trials
  • Tetralogy of fallot syndrome, autosomal recessive 0 trials
  • Tetramelic monodactyly 0 trials
  • Tetrasomy 18p 0 trials
  • Thalamic degeneration, symmetric infantile 0 trials
  • Thickened earlobes-conductive deafness syndrome 0 trials
  • Thoracic dysostosis, isolated 0 trials
  • Thrombocytopenia with elevated serum IgA and renal disease 0 trials
  • Thrombocytopenia, anemia, and myelofibrosis 0 trials
  • Thrombocytopenia-Robin sequence syndrome 0 trials
  • Thumb deformity 0 trials
  • Thumb, distal hyperextensibility of 0 trials
  • Thumbs, congenital Clasped 0 trials
  • Thymic aplasia with fetal death 0 trials
  • Thymoma, familial 0 trials
  • Thyroid hormone metabolism, abnormal 0 trials Sub-types →
  • Thyroid hormone plasma membrane transport defect 0 trials
  • Tibia, absence of, with congenital deafness 0 trials
  • Tibial aplasia-ectrodactyly syndrome 0 trials Sub-types →
  • Tibial torsion, bilateral medial 0 trials
  • Tiglic acidemia 0 trials
  • Toe, fifth, number of phalanges 1N 0 trials
  • Toe, misshapen 0 trials
  • Toe, rotated fifth 0 trials
  • Toes, relative length of first and second 0 trials
  • Toes, space between first and second 0 trials
  • Tongue, pigmented fungiform papillae of 0 trials
  • Torus palatinus and torus mandibularis 0 trials
  • Transient infantile hypertriglyceridemia and hepatosteatosis 0 trials
  • Tremor of intention, ataxia, and lipofuscinosis 0 trials
  • Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 0 trials
  • Trichilemmal cyst 0 trials
  • Trichoepitheliomas, multiple desmoplastic 0 trials
  • Trichohepatoneurodevelopmental syndrome 0 trials
  • Trichoscyphodysplasia 0 trials
  • Triokinase and FMN cyclase deficiency syndrome 0 trials
  • Triphalangeal thumb with double phalanges 0 trials
  • Triphalangeal thumb-polysyndactyly syndrome 0 trials
  • Trisomy 18-like syndrome 0 trials
  • Trypsinogen deficiency 0 trials
  • Tuberculin skin test reactivity, absence of 0 trials
  • Tubulin, beta 0 trials
  • Tumor suppressor gene on chromosome 11 0 trials
  • Turnpenny-fry syndrome 0 trials
  • Ubiquitin-activating enzyme, Y-linked 0 trials
  • Ulna hypoplasia-intellectual disability syndrome 0 trials
  • Ulnar agenesis and endocardial fibroelastosis 0 trials
  • Ulnar hypoplasia-split foot syndrome 0 trials
  • Ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 0 trials
  • Umbilicus, familial flat 0 trials
  • Uncombable hair syndrome 1 0 trials
  • Uncombable hair syndrome 2 0 trials
  • Uncombable hair syndrome 3 0 trials
  • Unique green phenomenon 0 trials
  • Ureter, bifid or double 0 trials
  • Ureterocele 0 trials
  • Urogenital adysplasia 0 trials
  • Uveal coloboma-cleft lip and palate-intellectual disability 0 trials
  • Vacuolar Neuromyopathy 0 trials
  • Van Bogaert-Hozay syndrome 0 trials
  • Van Maldergem syndrome 0 trials Sub-types →
  • Varicella, severe recurrent 0 trials
  • Vascular helix of umbilical cord 0 trials
  • Vascular hyalinosis 0 trials
  • Vasculitis, lymphocytic, cutaneous small vessel 0 trials
  • Veins, pattern of, on anterior thorax 0 trials
  • Ventriculomegaly and arthrogryposis 0 trials
  • Ventriculomegaly with defects of the radius and kidney 0 trials
  • Ventriculomegaly-cystic kidney disease 0 trials
  • Venular insufficiency, systemic 0 trials
  • Vertebral anomalies and variable endocrine and T-cell dysfunction 0 trials
  • Vertebral hypersegmentation and orofacial anomalies 0 trials
  • Vertebral hypoplasia with lumbar kyphosis 0 trials
  • Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 trials
  • Vestibulocochlear dysfunction, progressive 0 trials
  • Visceral neuropathy, familial 0 trials Sub-types →
  • Visual impairment and progressive phthisis bulbi 0 trials
  • Vitamin D-dependent rickets, type 3 0 trials
  • Vitiligo, progressive, with intellectual disability and urethral duplication 0 trials
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia 0 trials
  • Warburg-cinotti syndrome 0 trials
  • Widow's peak syndrome 0 trials
  • Woolly hair-skin fragility syndrome 0 trials
  • Wooly hair, autosomal recessive 3 0 trials
  • Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 0 trials
  • Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 trials
  • Xylosidase deficiency 0 trials
  • Yakut short stature syndrome 0 trials
  • Zinc deficiency, transient neonatal 0 trials
• Chromosomal disorder 13 trials · 276 incl. sub-types
  18 sub-types

  • Autosomal anomaly 0 trials · 194 incl. sub-types Sub-types →
  • Syndrome caused by partial chromosomal deletion 0 trials · 57 incl. sub-types Sub-types →
  • Aneuploidy 14 trials · 36 incl. sub-types Sub-types →
  • Syndrome caused by partial chromosomal duplication 0 trials · 32 incl. sub-types Sub-types →
  • Prader-Willi syndrome 31 trials Sub-types →
  • Gonosome anomaly 6 trials · 20 incl. sub-types Sub-types →
  • Silver-Russell syndrome 7 trials Sub-types →
  • Chromosome inversion disorder 1 trial Sub-types →
  • Polyploidy 0 trials · 1 incl. sub-types Sub-types →
  • Uniparental disomy 0 trials · 1 incl. sub-types Sub-types →
  • Bloom syndrome 0 trials
  • FRAXD syndrome 0 trials
  • Chromosome 16q12 duplication syndrome 0 trials
  • Chromosome 1p36 deletion syndrome, proximal 0 trials
  • Chromosome Xq13 duplication syndrome 0 trials
  • Duplication/inversion 15q11 0 trials
  • Mosaic variegated aneuploidy syndrome 0 trials Sub-types →
  • Ring chromosome disorder 0 trials Sub-types →