Hereditary disease

Part of

Sub-types of Hereditary disease

• Hereditary neurological disease 6 trials · 5,791 incl. sub-types
  264 sub-types

  • Parkinson disease 1,169 trials · 1,296 incl. sub-types Sub-types →
  • Anxiety 1,036 trials
  • Hereditary neuromuscular disease 3 trials · 935 incl. sub-types Sub-types →
  • Inherited neurodegenerative disorder 11 trials · 808 incl. sub-types Sub-types →
  • Inherited retinal dystrophy 41 trials · 513 incl. sub-types Sub-types →
  • Mendelian neurodevelopmental disorder 0 trials · 208 incl. sub-types Sub-types →
  • Obsessive-compulsive disorder 197 trials
  • Hereditary ataxia 2 trials · 119 incl. sub-types Sub-types →
  • Essential tremor 102 trials · 104 incl. sub-types Sub-types →
  • Neurofibromatosis 19 trials · 94 incl. sub-types Sub-types →
  • Myalgic encephalomeyelitis/chronic fatigue syndrome 75 trials
  • Inherited orthostatic hypotension 0 trials · 71 incl. sub-types Sub-types →
  • Nonsyndromic genetic hearing loss 4 trials · 67 incl. sub-types Sub-types →
  • Inherited vitreoretinopathy 0 trials · 58 incl. sub-types Sub-types →
  • Paraganglioma 53 trials · 57 incl. sub-types Sub-types →
  • Retinal detachment 28 trials · 52 incl. sub-types Sub-types →
  • Tuberous sclerosis 41 trials · 44 incl. sub-types Sub-types →
  • Combined pituitary hormone deficiencies, genetic form 1 trial · 42 incl. sub-types Sub-types →
  • Endogenous depression 42 trials
  • Specific phobia 22 trials · 42 incl. sub-types Sub-types →
  • Tourette syndrome 41 trials
  • Familial partial epilepsy 0 trials · 39 incl. sub-types Sub-types →
  • Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types Sub-types →
  • Inherited dystonia 0 trials · 36 incl. sub-types Sub-types →
  • Normal pressure hydrocephalus 36 trials
  • Mismatch repair cancer syndrome 1 34 trials
  • Hereditary generalized epilepsy 0 trials · 33 incl. sub-types Sub-types →
  • X-linked deafness 0 trials · 32 incl. sub-types Sub-types →
  • Familial isolated pituitary adenoma 1 trial · 31 incl. sub-types Sub-types →
  • Von Hippel-Lindau disease 27 trials
  • Specific language impairment 26 trials Sub-types →
  • Stutter disorder 22 trials Sub-types →
  • Moyamoya disease 20 trials Sub-types →
  • Angelman syndrome 19 trials Sub-types →
  • Cerebral amyloid angiopathy 16 trials · 17 incl. sub-types Sub-types →
  • Li-Fraumeni syndrome 16 trials
  • Childhood apraxia of speech 16 trials
  • Intracranial berry aneurysm 12 trials Sub-types →
  • Progressive myoclonus epilepsy 5 trials · 12 incl. sub-types Sub-types →
  • DiGeorge syndrome 11 trials
  • Auditory neuropathy 7 trials · 11 incl. sub-types Sub-types →
  • Major affective disorder 6 11 trials
  • Spastic quadriplegic cerebral palsy 10 trials Sub-types →
  • Chiari malformation type I 9 trials
  • Neurohypophyseal diabetes insipidus 9 trials
  • Sturge-Weber syndrome 8 trials
  • Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types Sub-types →
  • Red-green color blindness 7 trials
  • Duane retraction syndrome 6 trials Sub-types →
  • Arthrogryposis 4 trials · 6 incl. sub-types Sub-types →
  • Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types Sub-types →
  • Undetermined early-onset epileptic encephalopathy 1 trial · 6 incl. sub-types Sub-types →
  • GLUT1 deficiency syndrome 4 trials · 5 incl. sub-types Sub-types →
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
  • Congenital nystagmus 4 trials · 5 incl. sub-types Sub-types →
  • Congenital stationary night blindness 2 trials · 5 incl. sub-types Sub-types →
  • Narcolepsy 1 5 trials
  • Nevoid basal cell carcinoma syndrome 5 trials Sub-types →
  • Qualitative or quantitative defects of beta-sarcoglycan 0 trials · 5 incl. sub-types Sub-types →
  • TTN-related myopathy 2 trials · 4 incl. sub-types Sub-types →
  • Corpus callosum, agenesis of 4 trials Sub-types →
  • Glutaryl-CoA dehydrogenase deficiency 4 trials
  • Qualitative or quantitative defects of gamma-sarcoglycan 1 trial · 4 incl. sub-types Sub-types →
  • Velocardiofacial syndrome 4 trials
  • Hoyeraal-Hreidarsson syndrome 3 trials
  • Riley-Day syndrome 3 trials
  • TPM2-related myopathy 1 trial · 3 incl. sub-types Sub-types →
  • Bilirubin encephalopathy 3 trials Sub-types →
  • Central nervous system lupus 3 trials
  • Congenital hydrocephalus 1 trial · 3 incl. sub-types Sub-types →
  • Encephalopathy, acute, infection-induced 2 trials · 3 incl. sub-types Sub-types →
  • Familial congenital mirror movements 3 trials Sub-types →
  • Familial porencephaly 0 trials · 3 incl. sub-types Sub-types →
  • Inherited reflex epilepsy 0 trials · 3 incl. sub-types Sub-types →
  • Megalencephaly-capillary malformation-polymicrogyria syndrome 3 trials
  • Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 trials · 3 incl. sub-types Sub-types →
  • Pontocerebellar hypoplasia 1 trial · 3 incl. sub-types Sub-types →
  • Pyridoxine-dependent epilepsy 3 trials Sub-types →
  • Qualitative or quantitative defects of alpha-sarcoglycan 0 trials · 3 incl. sub-types Sub-types →
  • ATP1A3-associated neurological disorder 0 trials · 2 incl. sub-types Sub-types →
  • Chiari malformation type II 2 trials
  • PAX6-related ocular dysgenesis 0 trials · 2 incl. sub-types Sub-types →
  • SPAST-related motor disorder 0 trials · 2 incl. sub-types Sub-types →
  • Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
  • Choroid plexus papilloma 2 trials
  • Dyskinesia with orofacial involvement, autosomal dominant 2 trials
  • Hereditary retinoblastoma 2 trials
  • Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2 trials
  • Isolated hereditary congenital facial paralysis 2 trials Sub-types →
  • Leukoencephalopathy, megalencephalic 0 trials · 2 incl. sub-types Sub-types →
  • Pyridoxal phosphate-responsive seizures 2 trials
  • Qualitative or quantitative defects of delta-sarcoglycan 0 trials · 2 incl. sub-types Sub-types →
  • Retinal ciliopathy 0 trials · 2 incl. sub-types Sub-types →
  • 2-hydroxyglutaric aciduria 0 trials · 1 incl. sub-types Sub-types →
  • Brown syndrome 1 trial
  • Gerstmann-Straussler-Scheinker syndrome 1 trial
  • Guillain-Barre syndrome, familial 1 trial
  • PRRT2-associated paroxysmal movement disorder 0 trials · 1 incl. sub-types Sub-types →
  • TH-deficient dopa-responsive dystonia 1 trial
  • TPM3-related myopathy 1 trial Sub-types →
  • Anencephaly 1 trial Sub-types →
  • Bilateral striopallidodentate calcinosis 1 trial Sub-types →
  • Biotin-responsive basal ganglia disease 1 trial
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
  • Coloboma of optic nerve 1 trial Sub-types →
  • Dilated cardiomyopathy 3B 1 trial
  • Epilepsy with myoclonic atonic seizures 1 trial
  • Familial hemiplegic migraine 0 trials · 1 incl. sub-types Sub-types →
  • Familial meningioma 1 trial
  • Familial periodic paralysis 0 trials · 1 incl. sub-types Sub-types →
  • Familial pterygium of the conjunctiva 1 trial
  • Famililal cerebral cavernous malformations 1 trial Sub-types →
  • Iris hypoplasia with glaucoma 1 trial
  • Isolated cerebellar hypoplasia/agenesis 1 trial
  • Linear nevus sebaceous syndrome 1 trial
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
  • Multiminicore myopathy 1 trial Sub-types →
  • Myoclonus, familial 1 trial Sub-types →
  • Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types Sub-types →
  • Neurocutaneous melanocytosis 1 trial
  • Neuromuscular disease caused by qualitative or quantitative defects of plectin 0 trials · 1 incl. sub-types Sub-types →
  • Neuromuscular disease caused by qualitative or quantitative defects of telethonin 0 trials · 1 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of desmin 0 trials · 1 incl. sub-types Sub-types →
  • Rhabdoid tumor predisposition syndrome 2 1 trial
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 1 trial
  • Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
  • B4GALT1-congenital disorder of glycosylation 0 trials
  • Bailey-Bloch congenital myopathy 0 trials
  • Behr syndrome 0 trials
  • Behrens Baumann dust syndrome 0 trials
  • Brody myopathy 0 trials
  • DHDDS-related syndrome 0 trials Sub-types →
  • Frey syndrome 0 trials
  • Griscelli syndrome type 1 0 trials
  • HSD10 mitochondrial disease 0 trials Sub-types →
  • Johanson-Blizzard syndrome 0 trials
  • KIF5A-related neurological disorder 0 trials Sub-types →
  • LSM7-related leukodystrophy and cerebellar atrophy 0 trials
  • Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0 trials
  • NPHP3-related Meckel-like syndrome 0 trials
  • PEHO-like syndrome 0 trials
  • PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
  • PrP systemic amyloidosis 0 trials
  • Prader-Willi-like syndrome 0 trials Sub-types →
  • Ritscher-Schinzel syndrome 0 trials Sub-types →
  • SERAC1-related neurological disorder 0 trials Sub-types →
  • SLC39A8-CDG 0 trials
  • SLC6A3-related dopamine transporter deficiency syndrome 0 trials Sub-types →
  • TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
  • TUBB3-related tubulinopathy 0 trials Sub-types →
  • Uner Tan Syndrome 0 trials
  • VPS11-related neurological disorder 0 trials Sub-types →
  • Valence-Farazi cerebellar ataxia syndrome 0 trials
  • X-linked immunoneurologic disorder 0 trials
  • X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
  • Achromatopsia 6 0 trials
  • Adult-onset nemaline myopathy 0 trials
  • Age-related hearing impairment 1 0 trials
  • Age-related hearing impairment 2 0 trials
  • Alpha-actinopathy 0 trials Sub-types →
  • Angioid streaks 0 trials Sub-types →
  • Aniridia 2 0 trials
  • Aniridia 3 0 trials
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 trials
  • Band heterotopia of brain 0 trials
  • Benign familial infantile epilepsy 0 trials Sub-types →
  • Benign neonatal seizures 0 trials Sub-types →
  • Bilateral frontoparietal polymicrogyria 0 trials
  • Bilateral generalized polymicrogyria 0 trials
  • Bilateral parasagittal parieto-occipital polymicrogyria 0 trials
  • Blue color blindness 0 trials
  • Bradyopsia 0 trials Sub-types →
  • Brain malformations with or without urinary tract defects 0 trials
  • Brain-lung-thyroid syndrome 0 trials
  • Cathepsin a-related arteriopathy-strokes-leukoencephalopathy 0 trials
  • Caveolinopathy 0 trials Sub-types →
  • Cerebellar-facial-dental syndrome 0 trials
  • Chorea, remitting, with nystagmus and cataract 0 trials
  • Choreoathetosis, familial inverted 0 trials
  • Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 0 trials
  • Cluster headache, familial 0 trials
  • Complex cortical dysplasia with other brain malformations 0 trials Sub-types →
  • Congenital insensitivity to pain with severe intellectual disability 0 trials
  • Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 0 trials
  • Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive 0 trials
  • Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials Sub-types →
  • Encephalopathy, acute transient 0 trials
  • Encephalopathy, recurrent, of childhood 0 trials
  • Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 0 trials Sub-types →
  • Epilepsy, familial adult myoclonic 0 trials Sub-types →
  • Familial Alzheimer-like prion disease 0 trials
  • Familial congenital palsy of trochlear nerve 0 trials
  • Familial hemophagocytic lymphohistiocytosis type 1 0 trials
  • Familial hyperprolactinemia 0 trials
  • Familial infantile myoclonic epilepsy 0 trials
  • Familial panic disorder 0 trials Sub-types →
  • Familial retinal arterial macroaneurysm 0 trials
  • Familial schizencephaly 0 trials
  • Familial syringomyelia 0 trials
  • Fatty acyl-CoA reductase 1 upregulation 0 trials
  • Febrile seizures, familial, 11 0 trials
  • Folinic acid-responsive seizures 0 trials
  • Glycine encephalopathy 0 trials Sub-types →
  • Hereditary hyperekplexia 0 trials Sub-types →
  • Hereditary progressive chorea without dementia 0 trials
  • Holoprosencephaly 0 trials Sub-types →
  • Hyperlexia 0 trials
  • Hypermanganesemia with dystonia 2 0 trials
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 trials
  • Infection-induced acute-onset axonal neuropathy 0 trials
  • Intracranial extraskeletal myxoid chondrosarcoma 0 trials
  • Lateral meningocele syndrome 0 trials
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
  • Lissencephaly spectrum disorders 0 trials Sub-types →
  • Macrocephaly/megalencephaly syndrome, autosomal recessive 0 trials
  • Major affective disorder 1 0 trials
  • Major affective disorder 2 0 trials
  • Major affective disorder 3 0 trials
  • Major affective disorder 4 0 trials
  • Major affective disorder 5 0 trials
  • Major affective disorder 7 0 trials
  • Major affective disorder 8 0 trials
  • Major affective disorder 9 0 trials
  • Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 0 trials Sub-types →
  • Melanoma and neural system tumor syndrome 0 trials
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 trials
  • Microcephaly-complex motor and sensory axonal neuropathy syndrome 0 trials
  • Multiple pterygium-malignant hyperthermia syndrome 0 trials
  • Myofibrillar myopathy 5 0 trials
  • Myopathy due to calsequestrin and SERCA1 protein overload 0 trials
  • Myopic macular degeneration 0 trials
  • Myosclerosis 0 trials
  • Narcolepsy 3 0 trials
  • Narcolepsy 7 0 trials
  • Neuromuscular disease caused by qualitative or quantitative defects of TRIM32 0 trials Sub-types →
  • Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 0 trials Sub-types →
  • Neuromuscular disease caused by qualitative or quantitative defects of perlecan 0 trials Sub-types →
  • Neuroocular syndrome 0 trials Sub-types →
  • Occipital pachygyria and polymicrogyria 0 trials
  • Oculocerebrocutaneous syndrome 0 trials
  • Orofaciodigital syndrome type 6 0 trials
  • Parietal foramina 0 trials Sub-types →
  • Parkinsonism with polyneuropathy 0 trials
  • Paroxysmal extreme pain disorder 0 trials
  • Periventricular nodular heterotopia 0 trials Sub-types →
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
  • Phakomatosis pigmentokeratotica 0 trials
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 trials
  • Polymicrogyria, bilateral perisylvian, autosomal recessive 0 trials
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 trials
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 trials
  • Prosopagnosia, hereditary 0 trials
  • Proximal myopathy with extrapyramidal signs 0 trials
  • Red color blindness 0 trials
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0 trials
  • Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 0 trials
  • Schizophrenia 15 0 trials
  • Schizophrenia 16 0 trials
  • Schizophrenia 19 0 trials
  • Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
  • Severe neonatal-onset encephalopathy with microcephaly 0 trials
  • Spongiform encephalopathy with neuropsychiatric features 0 trials
  • Typical nemaline myopathy 0 trials Sub-types →
• Inborn errors of metabolism 48 trials · 2,231 incl. sub-types
  93 sub-types

  • Inherited lipid metabolism disorder 201 trials · 644 incl. sub-types Sub-types →
  • Inborn carbohydrate metabolic disorder 3 trials · 370 incl. sub-types Sub-types →
  • Abdominal obesity-metabolic syndrome 302 trials · 359 incl. sub-types Sub-types →
  • Lysosomal storage disease 38 trials · 303 incl. sub-types Sub-types →
  • Inborn disorder of energy metabolism 2 trials · 235 incl. sub-types Sub-types →
  • Inborn disorder of amino acid and other organic acid metabolism 0 trials · 225 incl. sub-types Sub-types →
  • Waldenstrom macroglobulinemia 136 trials Sub-types →
  • DNA repair disease 13 trials · 105 incl. sub-types Sub-types →
  • Hereditary amyloidosis 19 trials · 79 incl. sub-types Sub-types →
  • Inborn disorder of porphyrin metabolism 0 trials · 63 incl. sub-types Sub-types →
  • Mucopolysaccharidosis or mucopolysaccharidosis-like disorder 0 trials · 62 incl. sub-types Sub-types →
  • Inborn metal metabolism disorder 1 trial · 60 incl. sub-types Sub-types →
  • Disorder of metabolite absorption and transport 0 trials · 59 incl. sub-types Sub-types →
  • Inborn disorder of purine or pyrimidine metabolism 1 trial · 50 incl. sub-types Sub-types →
  • Plasma protein metabolism disease 0 trials · 47 incl. sub-types Sub-types →
  • Peroxisomal disease 2 trials · 38 incl. sub-types Sub-types →
  • Congenital disorder of glycosylation 7 trials · 36 incl. sub-types Sub-types →
  • Monogenic diabetes 9 trials · 24 incl. sub-types Sub-types →
  • Glycoprotein metabolism disease 1 trial · 23 incl. sub-types Sub-types →
  • Disorder of lysosomal-related organelles 0 trials · 17 incl. sub-types Sub-types →
  • Familial intrahepatic cholestasis 1 trial · 17 incl. sub-types Sub-types →
  • Hereditary lipodystrophy 2 trials · 17 incl. sub-types Sub-types →
  • Hypophosphatasia 13 trials Sub-types →
  • Familial hypoparathyroidism 0 trials · 10 incl. sub-types Sub-types →
  • Inborn disorder of biogenic amine metabolism and transport 0 trials · 10 incl. sub-types Sub-types →
  • Inherited thyroid metabolism disease 0 trials · 8 incl. sub-types Sub-types →
  • Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types Sub-types →
  • Inborn vitamin metabolic disorder 0 trials · 7 incl. sub-types Sub-types →
  • Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types Sub-types →
  • Disorder of peptide and amine metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Congenital disorder of deglycosylation 0 trials · 2 incl. sub-types Sub-types →
  • Diastrophic dysplasia 2 trials
  • Hypercalcemia, infantile 2 trials Sub-types →
  • Hypoalphalipoproteinemia, primary, 1 2 trials
  • 2-hydroxyglutaric aciduria 0 trials · 1 incl. sub-types Sub-types →
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
  • Diabetes mellitus, noninsulin-dependent, 1 1 trial
  • Diabetes mellitus, noninsulin-dependent, 2 1 trial
  • Familial hypocalciuric hypercalcemia 0 trials · 1 incl. sub-types Sub-types →
  • Fish eye disease 1 trial
  • Hereditary recurrent myoglobinuria 0 trials · 1 incl. sub-types Sub-types →
  • Thiopurine metabolic disease 0 trials · 1 incl. sub-types Sub-types →
  • 4-hydroxyphenylacetic aciduria 0 trials
  • 5-nucleotidase syndrome 0 trials
  • APO A-i deficiency 0 trials
  • CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis 0 trials
  • Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
  • Lane Hamilton syndrome 0 trials
  • NAD(P)HX dehydratase deficiency 0 trials
  • SQSTM1-related multisystem proteinopathy 0 trials Sub-types →
  • Achondrogenesis type IB 0 trials
  • Antigen-peptide-transporter 2 deficiency 0 trials
  • Apolipoprotein c-III deficiency 0 trials
  • Aromatase excess syndrome 0 trials
  • Atelosteogenesis type II 0 trials
  • Autosomal dominant dopa-responsive dystonia 0 trials Sub-types →
  • Autosomal dominant myoglobinuria 0 trials
  • Autosomal dominant proximal renal tubular acidosis 0 trials
  • Autosomal recessive proximal renal tubular acidosis 0 trials
  • Cardiomyopathy hypogonadism metabolic anomalies 0 trials
  • Chondrocalcinosis 2 0 trials
  • Chondrodysplasia with joint dislocations, gPAPP type 0 trials
  • Combined ApoA-I and ApoC-III deficiency 0 trials
  • Defective apolipoprotein b-100 0 trials
  • Deficiency of coenzyme q cytochrome c reductase 0 trials
  • Diabetes mellitus, noninsulin-dependent, 3 0 trials
  • Diabetes mellitus, noninsulin-dependent, 4 0 trials
  • Diabetes mellitus, noninsulin-dependent, 5 0 trials
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 trials
  • Ferro-cerebro-cutaneous syndrome 0 trials
  • Gluthathione peroxidase deficiency 0 trials
  • Hemolytic anemia due to diphosphoglycerate mutase deficiency 0 trials
  • Hypercholesterolemia, familial, 4 0 trials
  • Hypermanganesemia with dystonia 0 trials Sub-types →
  • Hypertriglyceridemia 1 0 trials
  • Hypertriglyceridemia 2 0 trials
  • Hypoalphalipoproteinemia, primary, 2 0 trials Sub-types →
  • Hypotonia-failure to thrive-microcephaly syndrome 0 trials
  • Inborn disorder of aspartate family metabolism 0 trials Sub-types →
  • Inborn glycerol kinase deficiency 0 trials Sub-types →
  • Inherited threoninemia 0 trials
  • Multiple epiphyseal dysplasia type 4 0 trials
  • Normophosphatemic familial tumoral calcinosis 0 trials
  • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 0 trials
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 trials
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 0 trials
  • Striatonigral degeneration 0 trials Sub-types →
  • Sulfide quinone oxidoreductase deficiency 0 trials
  • Tumoral calcinosis, hyperphosphatemic, familial, 1 0 trials
  • Tumoral calcinosis, hyperphosphatemic, familial, 2 0 trials
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 0 trials
  • Uridine-cytidineuria 0 trials
  • Weinstein kliman scully syndrome 0 trials
• Autosomal genetic disease 0 trials · 1,670 incl. sub-types
  8 sub-types

  • Autosomal recessive disease 4 trials · 999 incl. sub-types Sub-types →
  • Autosomal dominant disease 0 trials · 699 incl. sub-types Sub-types →
  • Congenital factor XII deficiency 1 trial
  • Septooptic dysplasia 1 trial Sub-types →
  • Weill-Marchesani syndrome 0 trials Sub-types →
  • Brachydactyly-syndactyly syndrome 0 trials
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 trials
  • Congenital factor XI deficiency 0 trials
• Hereditary disorder of connective tissue 0 trials · 1,314 incl. sub-types
  88 sub-types

  • Systemic lupus erythematosus 518 trials · 524 incl. sub-types Sub-types →
  • Chronic myelogenous leukemia, BCR-ABL1 positive 211 trials · 253 incl. sub-types Sub-types →
  • Uterine corpus leiomyoma 104 trials · 109 incl. sub-types Sub-types →
  • Acquired polycythemia vera 90 trials
  • Chondrosarcoma 39 trials · 44 incl. sub-types Sub-types →
  • Type 2 collagenopathy 0 trials · 39 incl. sub-types Sub-types →
  • CHILD syndrome 37 trials
  • Desmoid tumor 36 trials Sub-types →
  • Familial isolated pituitary adenoma 1 trial · 31 incl. sub-types Sub-types →
  • Inherited acute myeloid leukemia 1 trial · 25 incl. sub-types Sub-types →
  • Hereditary periodic fever syndrome 5 trials · 24 incl. sub-types Sub-types →
  • Marfan and Marfan-related disorder 1 trial · 22 incl. sub-types Sub-types →
  • VEXAS syndrome 18 trials
  • Hypermobility spectrum disorder 17 trials
  • Peyronie disease 12 trials
  • Aicardi-Goutieres syndrome 9 trials Sub-types →
  • Autosomal recessive inherited pseudoxanthoma elasticum 7 trials
  • Ewing sarcoma of bone 5 trials
  • TREX1-related type 1 interferonopathy 0 trials · 5 incl. sub-types Sub-types →
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 4 trials
  • Chronic recurrent multifocal osteomyelitis 3 trials · 4 incl. sub-types Sub-types →
  • Blau syndrome 3 trials
  • Ollier disease 3 trials
  • Autoimmune interstitial lung disease-arthritis syndrome 3 trials Sub-types →
  • Deficiency of adenosine deaminase 2 3 trials
  • Hereditary multiple osteochondromas 3 trials Sub-types →
  • Inherited torticollis 3 trials
  • Maffucci syndrome 2 trials
  • STING-associated vasculopathy with onset in infancy 2 trials
  • Familial chilblain lupus 2 trials Sub-types →
  • Proteosome-associated autoinflammatory syndrome 2 trials Sub-types →
  • Sweet syndrome 2 trials
  • ADAR-related type 1 interferonopathy 0 trials · 1 incl. sub-types Sub-types →
  • Singleton-Merten dysplasia 1 trial Sub-types →
  • Arterial tortuosity syndrome 1 trial
  • Cherubism 1 trial Sub-types →
  • Hyperparathyroidism 2 with jaw tumors 1 trial
  • Infantile myofibromatosis 1 trial Sub-types →
  • Neonatal severe primary hyperparathyroidism 1 trial
  • Ossification of the posterior longitudinal ligament of the spine 1 trial
  • EMILIN-1-related connective tissue disease 0 trials
  • Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
  • IFIH1-related type 1 interferonopathy 0 trials Sub-types →
  • IL10-related early-onset inflammatory bowel disease 0 trials Sub-types →
  • LAMA5-related multisystemic syndrome 0 trials
  • MASS syndrome 0 trials
  • Pelger-Huet-like anomaly and episodic fever with abdominal pain 0 trials
  • RNASEH2A-related type 1 interferonopathy 0 trials Sub-types →
  • RNASEH2B-related type 1 interferonopathy 0 trials Sub-types →
  • RNASEH2C-related type 1 interferonopathy 0 trials Sub-types →
  • RNU7-1-related type 1 interferonopathy 0 trials Sub-types →
  • SAMHD1-related type 1 interferonopathy 0 trials Sub-types →
  • Sharpin-related autoinflammatory syndrome 0 trials
  • Spondyloenchondrodysplasia with immune dysregulation 0 trials
  • X-linked reticulate pigmentary disorder 0 trials
  • Acroosteolysis dominant type 0 trials
  • Aneurysmal bone cyst 0 trials
  • Arterial tortuosity-bone fragility syndrome 0 trials
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 trials
  • Autoinflammatory disease, X-linked 0 trials
  • Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 trials Sub-types →
  • Autoinflammatory disease, systemic, with vasculitis 0 trials
  • Autoinflammatory syndrome with immunodeficiency 0 trials
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
  • Autoinflammatory syndrome, familial, Behcet-like 0 trials Sub-types →
  • Bone fragility with contractures, arterial rupture, and deafness 0 trials
  • Brittle cornea syndrome 0 trials Sub-types →
  • Chondrocalcinosis 2 0 trials
  • Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
  • Diaphyseal medullary stenosis-bone malignancy syndrome 0 trials
  • Encephalocraniocutaneous lipomatosis 0 trials
  • Familial ossifying fibroma 0 trials
  • Hyperparathyroidism 1 0 trials
  • Hyperparathyroidism 3 0 trials
  • Hyperparathyroidism 4 0 trials
  • Idiopathic juvenile osteoporosis 0 trials
  • Jugulotympanic paraganglioma 0 trials Sub-types →
  • Juvenile hyaline fibromatosis 0 trials
  • Linkeropathy 0 trials Sub-types →
  • Multiple epiphyseal dysplasia due to collagen 9 anomaly 0 trials Sub-types →
  • Multiple symmetric lipomatosis 0 trials Sub-types →
  • Neonatal inflammatory skin and bowel disease 0 trials Sub-types →
  • Progeroid and marfanoid aspect-lipodystrophy syndrome 0 trials
  • Pseudo-TORCH syndrome 2 0 trials
  • Psoriasis 14, pustular 0 trials
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 trials
  • Thrombocytopenia 6 0 trials
  • Trichohepatoenteric syndrome 0 trials Sub-types →
• Inflammatory bowel disease 430 trials · 1,081 incl. sub-types
  40 sub-types

  • Colitis 41 trials · 679 incl. sub-types Sub-types →
  • Crohn disease 563 trials · 569 incl. sub-types Sub-types →
  • Proctitis 2 trials · 21 incl. sub-types Sub-types →
  • Inflammatory bowel disease 1 3 trials
  • Undetermined colitis 3 trials
  • Ulcerative proctosigmoiditis 2 trials
  • ALPI-related inflammatory bowel disease 0 trials
  • IL10-related early-onset inflammatory bowel disease 0 trials Sub-types →
  • TRIM22-related inflammatory bowel disease 0 trials
  • Cap polyposis 0 trials
  • Cutaneous photosensitivity-lethal colitis syndrome 0 trials
  • Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive 0 trials
  • Inflammatory bowel disease 10 0 trials
  • Inflammatory bowel disease 11 0 trials
  • Inflammatory bowel disease 12 0 trials
  • Inflammatory bowel disease 13 0 trials
  • Inflammatory bowel disease 14 0 trials
  • Inflammatory bowel disease 15 0 trials
  • Inflammatory bowel disease 16 0 trials
  • Inflammatory bowel disease 17 0 trials
  • Inflammatory bowel disease 18 0 trials
  • Inflammatory bowel disease 19 0 trials
  • Inflammatory bowel disease 2 0 trials
  • Inflammatory bowel disease 20 0 trials
  • Inflammatory bowel disease 21 0 trials
  • Inflammatory bowel disease 22 0 trials
  • Inflammatory bowel disease 23 0 trials
  • Inflammatory bowel disease 24 0 trials
  • Inflammatory bowel disease 26 0 trials
  • Inflammatory bowel disease 27 0 trials
  • Inflammatory bowel disease 29 0 trials
  • Inflammatory bowel disease 3 0 trials
  • Inflammatory bowel disease 30 0 trials
  • Inflammatory bowel disease 4 0 trials
  • Inflammatory bowel disease 5 0 trials
  • Inflammatory bowel disease 6 0 trials
  • Inflammatory bowel disease 7 0 trials
  • Inflammatory bowel disease 8 0 trials
  • Inflammatory bowel disease 9 0 trials
  • Neonatal inflammatory skin and bowel disease 0 trials Sub-types →
• Hereditary skin disorder 7 trials · 885 incl. sub-types
  114 sub-types

  • Psoriasis 381 trials Sub-types →
  • Acne 92 trials Sub-types →
  • Hereditary angioedema 58 trials · 60 incl. sub-types Sub-types →
  • Ectodermal dysplasia syndrome 3 trials · 45 incl. sub-types Sub-types →
  • Inherited epidermolysis bullosa 5 trials · 38 incl. sub-types Sub-types →
  • CHILD syndrome 37 trials
  • Inherited ichthyosis 6 trials · 33 incl. sub-types Sub-types →
  • Hereditary photodermatosis 0 trials · 31 incl. sub-types Sub-types →
  • Lichen sclerosus et atrophicus 10 trials · 20 incl. sub-types Sub-types →
  • Hereditary lipodystrophy 2 trials · 17 incl. sub-types Sub-types →
  • Hereditary palmoplantar keratoderma 0 trials · 13 incl. sub-types Sub-types →
  • Familial multiple nevi flammei 12 trials
  • Syndromic oculocutaneous albinism 0 trials · 12 incl. sub-types Sub-types →
  • Cowden disease 11 trials Sub-types →
  • Familial pityriasis rubra pilaris 10 trials
  • Lentigo 8 trials
  • Subcutaneous panniculitis-like T-cell lymphoma 8 trials
  • Large congenital melanocytic nevus 7 trials
  • Alopecia, isolated 0 trials · 6 incl. sub-types Sub-types →
  • Neutrophil actin dysfunction 6 trials
  • Seborrheic keratosis 6 trials Sub-types →
  • CLOVES syndrome 5 trials
  • Legius syndrome 5 trials
  • Reticulate pigment disorder 0 trials · 5 incl. sub-types Sub-types →
  • Hailey-Hailey disease 4 trials
  • Chronic mucocutaneous candidiasis 4 trials Sub-types →
  • Lamellar ichthyosis 4 trials Sub-types →
  • Oculocutaneous albinism 4 trials Sub-types →
  • Piebaldism 4 trials
  • Aplasia cutis congenita 3 trials Sub-types →
  • Hereditary mucosal leukokeratosis 3 trials Sub-types →
  • Schwannomatosis 3 trials Sub-types →
  • Maffucci syndrome 2 trials
  • Sneddon syndrome 2 trials
  • Autosomal dominant vibratory urticaria 2 trials
  • Blue rubber bleb nevus 2 trials
  • Familial chilblain lupus 2 trials Sub-types →
  • Keratosis pilaris atrophicans 2 trials Sub-types →
  • Stiff skin syndrome 2 trials Sub-types →
  • Sweet syndrome 2 trials
  • Darier disease 1 trial
  • Tietz syndrome 1 trial
  • X-linked chondrodysplasia punctata 2 1 trial
  • Acrokeratosis verruciformis 1 trial
  • Dyschromatosis universalis hereditaria 1 trial Sub-types →
  • Familial primary localized cutaneous amyloidosis 1 trial Sub-types →
  • Linear nevus sebaceous syndrome 1 trial
  • Neurocutaneous melanocytosis 1 trial
  • Nevus, epidermal 1 trial Sub-types →
  • Urticaria, aquagenic 1 trial
  • Urticaria, familial localized heat 1 trial
  • Becker nevus syndrome 0 trials Sub-types →
  • Cobb syndrome 0 trials
  • DK1-congenital disorder of glycosylation 0 trials
  • H syndrome 0 trials
  • MEDNIK syndrome 0 trials
  • PENS syndrome 0 trials
  • VPS13A-related neurodegenerative disease 0 trials
  • X-linked reticulate pigmentary disorder 0 trials
  • Absence of fingerprints-congenital milia syndrome 0 trials
  • Acrogeria 0 trials
  • Albinism-hearing loss syndrome 0 trials
  • Anhidrosis, familial generalized, with abnormal or absent sweat glands 0 trials
  • Autosomal recessive cutis laxa type 2A 0 trials Sub-types →
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 0 trials
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 trials
  • Combined immunodeficiency with skin granulomas 0 trials
  • Deafness, congenital, with total albinism 0 trials
  • Dermatitis herpetiformis, familial 0 trials
  • Dermatosis papulosa nigra 0 trials
  • Encephalocraniocutaneous lipomatosis 0 trials
  • Epidermodysplasia verruciformis 0 trials Sub-types →
  • Familial acanthosis nigricans 0 trials
  • Familial acne inversa 0 trials Sub-types →
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 trials
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 trials
  • Familial keratoacanthoma 0 trials
  • Familial multiple discoid fibromas 0 trials
  • Familial multiple fibrofolliculoma 0 trials
  • Generalized basaloid follicular hamartoma syndrome 0 trials
  • Hereditary mucoepithelial dysplasia 0 trials
  • Hereditary papulotranslucent acrokeratoderma 0 trials
  • Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0 trials
  • Hydroa vacciniforme, familial 0 trials
  • Hyperkeratosis-hyperpigmentation syndrome 0 trials
  • Hyperpigmentation with or without hypopigmentation, familial progressive 0 trials Sub-types →
  • Inflammatory poikiloderma with hair abnormalities and acral keratoses 0 trials
  • Infundibulocystic basal cell carcinoma 0 trials
  • Isolated anhidrosis with normal sweat glands 0 trials
  • Isolated congenital adermatoglyphia 0 trials
  • Isolated hyperchlorhidrosis 0 trials
  • Juvenile hyaline fibromatosis 0 trials
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 0 trials
  • Lichen planus, familial 0 trials
  • Linear skin defects with multiple congenital anomalies 0 trials Sub-types →
  • Lipoid proteinosis 0 trials
  • Monilethrix 0 trials Sub-types →
  • Multiple benign circumferential skin creases on limbs 1 0 trials
  • Neonatal inflammatory skin and bowel disease 0 trials Sub-types →
  • Nevus comedonicus syndrome 0 trials
  • Osteopathia striata-pigmentary dermopathy-white forelock syndrome 0 trials
  • Phakomatosis pigmentokeratotica 0 trials
  • Pilomatrixoma 0 trials
  • Poikiloderma with neutropenia 0 trials
  • Porokeratosis 0 trials Sub-types →
  • Progressive osseous heteroplasia 0 trials
  • Scalp defects-postaxial polydactyly syndrome 0 trials
  • Sebocystomatosis 0 trials
  • Seborrhea-like dermatitis with psoriasiform elements 0 trials
  • Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials
  • Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 trials
  • Skin creases, congenital symmetric circumferential, 2 0 trials
  • Spinocerebellar ataxia type 34 0 trials
  • Vasculitis, lymphocytic, nodular 0 trials
• Immunodeficiency disease 55 trials · 779 incl. sub-types
  95 sub-types

  • T-cell immunodeficiency 4 trials · 484 incl. sub-types Sub-types →
  • B cell deficiency 5 trials · 86 incl. sub-types Sub-types →
  • Myalgic encephalomeyelitis/chronic fatigue syndrome 75 trials
  • Combined immunodeficiency 3 trials · 57 incl. sub-types Sub-types →
  • Complement deficiency 2 trials · 28 incl. sub-types Sub-types →
  • X-linked lymphoproliferative syndrome 7 trials · 11 incl. sub-types Sub-types →
  • GATA2 deficiency with susceptibility to MDS/AML 5 trials · 8 incl. sub-types Sub-types →
  • Idiopathic CD4 lymphocytopenia 7 trials
  • IKBKG-related immunodeficiency with or without ectodermal dysplasia 0 trials · 4 incl. sub-types Sub-types →
  • Immunodeficiency due to selective anti-polysaccharide antibody deficiency 2 trials
  • IRF4-related immune disorder 1 trial Sub-types →
  • PTEN harmartoma tumor syndrome with immune disorder 1 trial
  • Immunodeficiency 23 1 trial
  • Immunodeficiency 31B 1 trial
  • DNAJC21-related Shwachman Diamond syndrome 0 trials
  • DOCK2 deficiency 0 trials
  • FADD-related immunodeficiency 0 trials
  • FASLG-related immunodeficiency 0 trials
  • FNIP1-associated syndrome 0 trials
  • Shwachman-Diamond syndrome 1 0 trials
  • TFRC-related combined immunodeficiency 0 trials
  • TNFRSF9-related immunodeficiency 0 trials Sub-types →
  • Wiskott-Aldrich syndrome 2 0 trials
  • Wiskott-Aldrich syndrome, autosomal dominant form 0 trials
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 0 trials
  • Chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency 0 trials
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 trials
  • Hatipoglu immunodeficiency syndrome 0 trials
  • Hypoproteinemia, hypercatabolic 0 trials
  • Immune deficiency due to impaired neutrophil phagocytosis and migration 0 trials
  • Immunodeficiency 101 (varicella zoster virus-specific) 0 trials
  • Immunodeficiency 102 0 trials
  • Immunodeficiency 106, susceptibility to viral infections 0 trials
  • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 0 trials
  • Immunodeficiency 112 0 trials
  • Immunodeficiency 113 with autoimmunity and autoinflammation 0 trials
  • Immunodeficiency 114, folate-responsive 0 trials
  • Immunodeficiency 115 with autoinflammation 0 trials
  • Immunodeficiency 117 0 trials
  • Immunodeficiency 118 0 trials
  • Immunodeficiency 119 0 trials
  • Immunodeficiency 11b with atopic dermatitis 0 trials
  • Immunodeficiency 121 with autoinflammation 0 trials
  • Immunodeficiency 122 0 trials
  • Immunodeficiency 123 with HPV-related verrucosis 0 trials
  • Immunodeficiency 125 0 trials
  • Immunodeficiency 126, susceptibility to 0 trials
  • Immunodeficiency 127 0 trials
  • Immunodeficiency 128 0 trials
  • Immunodeficiency 132b 0 trials
  • Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy 0 trials
  • Immunodeficiency 134 (Epstein-Barr virus-specific) 0 trials
  • Immunodeficiency 14b, autosomal recessive 0 trials
  • Immunodeficiency 15a 0 trials
  • Immunodeficiency 35 0 trials
  • Immunodeficiency 45 0 trials
  • Immunodeficiency 53 0 trials
  • Immunodeficiency 57 0 trials
  • Immunodeficiency 60 0 trials
  • Immunodeficiency 62 0 trials
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity 0 trials
  • Immunodeficiency 64 0 trials
  • Immunodeficiency 65, susceptibility to viral infections 0 trials
  • Immunodeficiency 66 0 trials
  • Immunodeficiency 67 0 trials
  • Immunodeficiency 69 0 trials
  • Immunodeficiency 70 0 trials
  • Immunodeficiency 72 with autoinflammation 0 trials
  • Immunodeficiency 74, COVID-19-related, X-linked 0 trials
  • Immunodeficiency 75 0 trials
  • Immunodeficiency 76 0 trials
  • Immunodeficiency 77 0 trials
  • Immunodeficiency 78 with autoimmunity and developmental delay 0 trials
  • Immunodeficiency 80 with or without congenital cardiomyopathy 0 trials
  • Immunodeficiency 81 0 trials
  • Immunodeficiency 82 with systemic inflammation 0 trials
  • Immunodeficiency 84 0 trials
  • Immunodeficiency 85 and autoimmunity 0 trials
  • Immunodeficiency 86 0 trials
  • Immunodeficiency 87 and autoimmunity 0 trials
  • Immunodeficiency 88 0 trials
  • Immunodeficiency 89 and autoimmunity 0 trials
  • Immunodeficiency 91 and hyperinflammation 0 trials
  • Immunodeficiency 92 0 trials
  • Immunodeficiency 93 and hypertrophic cardiomyopathy 0 trials
  • Immunodeficiency 95 0 trials
  • Immunodeficiency 96 0 trials
  • Immunodeficiency 97 with autoinflammation 0 trials
  • Immunodeficiency 98 with autoinflammation, X-linked 0 trials
  • Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 0 trials
  • Immunodeficiency due to CD25 deficiency 0 trials
  • Lymphoproliferative syndrome 1 0 trials
  • Primary immunodeficiency due to calcium channel deficiency 0 trials
  • Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 trials
  • Pyogenic bacterial infections due to MyD88 deficiency 0 trials
• Hereditary neoplastic syndrome 60 trials · 731 incl. sub-types
  117 sub-types

  • Glioma susceptibility 0 trials · 133 incl. sub-types Sub-types →
  • Neurofibromatosis 19 trials · 94 incl. sub-types Sub-types →
  • Hereditary nonpolyposis colon cancer 5 trials · 88 incl. sub-types Sub-types →
  • Multiple endocrine neoplasia 7 trials · 62 incl. sub-types Sub-types →
  • Intestinal polyposis syndrome 3 trials · 53 incl. sub-types Sub-types →
  • Tuberous sclerosis 41 trials · 44 incl. sub-types Sub-types →
  • Leukemia, acute lymphocytic, susceptibility to, 1 41 trials
  • BRCA2-related cancer predisposition 36 trials · 38 incl. sub-types Sub-types →
  • Hereditary breast ovarian cancer syndrome 35 trials · 38 incl. sub-types Sub-types →
  • Mismatch repair cancer syndrome 1 34 trials
  • BRCA1-related cancer predisposition 23 trials · 27 incl. sub-types Sub-types →
  • Nasopharyngeal carcinoma, susceptibility to, 1 21 trials
  • Li-Fraumeni syndrome 16 trials
  • PALB2-related cancer predisposition 14 trials Sub-types →
  • Dyskeratosis congenita 12 trials Sub-types →
  • Wiskott-Aldrich syndrome 10 trials
  • PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types Sub-types →
  • Hereditary leiomyomatosis and renal cell cancer 8 trials
  • CHEK2-related cancer predisposition 7 trials
  • Susceptibility to familial cutaneous melanoma 0 trials · 7 incl. sub-types Sub-types →
  • BAP1-related tumor predisposition syndrome 6 trials
  • Beckwith-Wiedemann syndrome 6 trials Sub-types →
  • RAD51C-related cancer predisposition 6 trials
  • Hereditary pheochromocytoma-paraganglioma 6 trials Sub-types →
  • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 1 trial · 5 incl. sub-types Sub-types →
  • Nevoid basal cell carcinoma syndrome 5 trials Sub-types →
  • RAD51D-related cancer predisposition 4 trials
  • Kostmann syndrome 3 trials
  • Li-fraumeni-like syndrome 3 trials
  • Familial atypical multiple mole melanoma syndrome 3 trials Sub-types →
  • Hereditary multiple osteochondromas 3 trials Sub-types →
  • BARD1-related cancer predisposition 2 trials
  • Brooke-Spiegler syndrome 0 trials · 2 incl. sub-types Sub-types →
  • Maffucci syndrome 2 trials
  • Blue rubber bleb nevus 2 trials
  • Hereditary retinoblastoma 2 trials
  • Inherited hematologic cancer-predisposing syndrome 2 trials
  • Leukemia, chronic lymphocytic, susceptibility to, 2 2 trials
  • Neuroblastoma, susceptibility to, 3 2 trials
  • Rothmund-Thomson syndrome 1 trial Sub-types →
  • SAMD9-related spectrum and myeloid neoplasm risk 1 trial
  • SAMD9L-related spectrum and myeloid neoplasm risk 1 trial
  • WAGR syndrome 1 trial Sub-types →
  • Cherubism 1 trial Sub-types →
  • Familial rhabdoid tumor 0 trials · 1 incl. sub-types Sub-types →
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 1 trial
  • Hyperparathyroidism 2 with jaw tumors 1 trial
  • ATM-related cancer predisposition 0 trials
  • CDH1-related diffuse gastric and lobular breast cancer syndrome 0 trials
  • Carney-Stratakis syndrome 0 trials
  • Cobb syndrome 0 trials
  • DDX41-related hematologic malignancy predisposition syndrome 0 trials
  • EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition 0 trials
  • GPR161-related medulloblastoma predisposition 0 trials
  • HAVCR2-related cancer predisposition 0 trials
  • Kaposi sarcoma, susceptibility to 0 trials
  • N syndrome 0 trials
  • NTHL1-deficiency tumor predisposition syndrome 0 trials
  • Basal cell carcinoma, susceptibility to, 7 0 trials
  • Breast cancer, familial, susceptibility to, 1 0 trials
  • Breast cancer, familial, susceptibility to, 2 0 trials
  • Breast cancer, familial, susceptibility to, 3 0 trials
  • Cholangiocarcinoma, susceptibility to 0 trials
  • Colorectal cancer, susceptibility to, 1 0 trials
  • Colorectal cancer, susceptibility to, 10 0 trials
  • Colorectal cancer, susceptibility to, 11 0 trials
  • Colorectal cancer, susceptibility to, 12 0 trials
  • Colorectal cancer, susceptibility to, 2 0 trials
  • Colorectal cancer, susceptibility to, 3 0 trials
  • Colorectal cancer, susceptibility to, 4 0 trials
  • Colorectal cancer, susceptibility to, 5 0 trials
  • Colorectal cancer, susceptibility to, 6 0 trials
  • Colorectal cancer, susceptibility to, 7 0 trials
  • Colorectal cancer, susceptibility to, 8 0 trials
  • Colorectal cancer, susceptibility to, 9 0 trials
  • Colorectal cancer, susceptibility to, on chromosome 15 0 trials
  • Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate 0 trials
  • Erythroleukemia, familial, susceptibility to 0 trials
  • Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 trials
  • Familial isolated hyperparathyroidism 0 trials Sub-types →
  • Familial multiple fibrofolliculoma 0 trials
  • Follicular lymphoma, susceptibility to 0 trials Sub-types →
  • Hemangioma, capillary infantile, susceptibility to 0 trials
  • Leukemia, acute lymphoblastic, susceptibility to, 3 0 trials
  • Leukemia, acute lymphocytic, susceptibility to, 2 0 trials
  • Leukemia, acute myeloid, susceptibility to 0 trials
  • Leukemia, chronic lymphocytic, susceptibility to, 1 0 trials
  • Leukemia, chronic lymphocytic, susceptibility to, 3 0 trials
  • Leukemia, chronic lymphocytic, susceptibility to, 4 0 trials
  • Leukemia, chronic lymphocytic, susceptibility to, 5 0 trials
  • Lung cancer susceptibility 1 0 trials
  • Lung cancer susceptibility 3 0 trials
  • Lung cancer susceptibility 4 0 trials
  • Lung cancer susceptibility 5 0 trials
  • Melanoma and neural system tumor syndrome 0 trials
  • Mosaic neurofibromatosis/schwannomatosis 0 trials Sub-types →
  • Mosaic variegated aneuploidy syndrome 0 trials Sub-types →
  • Multiple self-healing squamous epithelioma 0 trials
  • Nasopharyngeal carcinoma, susceptibility to, 2 0 trials
  • Nasopharyngeal carcinoma, susceptibility to, 3 0 trials
  • Neuroblastoma, susceptibility to, 1 0 trials
  • Neuroblastoma, susceptibility to, 2 0 trials
  • Neuroblastoma, susceptibility to, 4 0 trials
  • Neuroblastoma, susceptibility to, 5 0 trials
  • Neuroblastoma, susceptibility to, 6 0 trials
  • Neuroblastoma, susceptibility to, 7 0 trials
  • Ovarian cancer, familial, susceptibility to, 1 0 trials
  • Ovarian cancer, familial, susceptibility to, 2 0 trials
  • Ovarian cancer, familial, susceptibility to, 3 0 trials
  • Ovarian cancer, susceptibility to, 1 0 trials
  • Pancreatic cancer, susceptibility to, 1 0 trials
  • Pancreatic cancer, susceptibility to, 5 0 trials
  • Progeroid features-hepatocellular carcinoma predisposition syndrome 0 trials
  • Prostate cancer, hereditary, X-linked 3 0 trials
  • Prostate cancer/brain cancer susceptibility 0 trials
  • Susceptibility to uveal melanoma 0 trials Sub-types →
  • Tumor predisposition syndrome 2 0 trials
• Skeletal dysplasia 1 trial · 663 incl. sub-types
  119 sub-types

  • Osteochondrodysplasia 12 trials · 381 incl. sub-types Sub-types →
  • Lysosomal storage disease with skeletal involvement 0 trials · 64 incl. sub-types Sub-types →
  • Chondrodysplasia punctata 0 trials · 39 incl. sub-types Sub-types →
  • Type 2 collagenopathy 0 trials · 39 incl. sub-types Sub-types →
  • Non-syndromic limb reduction defect 0 trials · 35 incl. sub-types Sub-types →
  • FGFR3-related chondrodysplasia 0 trials · 33 incl. sub-types Sub-types →
  • Abnormal mineralization disorder 0 trials · 22 incl. sub-types Sub-types →
  • Syndromic craniosynostosis 1 trial · 22 incl. sub-types Sub-types →
  • Osteopetrosis 6 trials · 14 incl. sub-types Sub-types →
  • Amniotic band syndrome 8 trials · 9 incl. sub-types Sub-types →
  • Primordial dwarfism and slender bone disorder 0 trials · 9 incl. sub-types Sub-types →
  • Acromelic dysplasia 0 trials · 8 incl. sub-types Sub-types →
  • SHOX-related short stature 6 trials
  • Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types Sub-types →
  • McCune-Albright syndrome 5 trials
  • Primary osteolysis 0 trials · 5 incl. sub-types Sub-types →
  • Filamin-related bone disorder 0 trials · 4 incl. sub-types Sub-types →
  • Ollier disease 3 trials
  • Proteus syndrome 2 trials
  • SLC26A2-related skeletal dysplasia 0 trials · 2 incl. sub-types Sub-types →
  • Acheiria 0 trials · 2 incl. sub-types Sub-types →
  • Bent bone dysplasia 0 trials · 2 incl. sub-types Sub-types →
  • Congenital absence of both forearm and hand 1 trial · 2 incl. sub-types Sub-types →
  • Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 trials
  • Short rib dysplasia 0 trials · 2 incl. sub-types Sub-types →
  • Spondylodysplastic dysplasia 0 trials · 2 incl. sub-types Sub-types →
  • 2q37 microdeletion syndrome 1 trial
  • COMP-related skeletal dysplasia 0 trials · 1 incl. sub-types Sub-types →
  • Currarino triad 1 trial
  • Sotos syndrome 1 trial
  • Chondromalacia patellae 1 trial
  • Coxopodopatellar syndrome 1 trial
  • Craniofrontonasal syndrome 1 trial
  • Bruck syndrome 0 trials Sub-types →
  • Camurati-Engelmann disease 0 trials Sub-types →
  • Catel-Manzke syndrome 0 trials
  • Cole-Carpenter syndrome 0 trials Sub-types →
  • Eiken syndrome 0 trials
  • FAM111A-related skeletal dysplasia 0 trials Sub-types →
  • Hartsfield-Bixler-Demyer syndrome 0 trials
  • LRP5-related primary osteoporosis 0 trials
  • Larsen-like osseous dysplasia-short stature syndrome 0 trials
  • Larsen-like syndrome, B3GAT3 type 0 trials
  • Lenz-Majewski hyperostotic dwarfism 0 trials
  • Marshall-Smith syndrome 0 trials
  • Richieri Costa-Pereira syndrome 0 trials
  • Robinow syndrome 0 trials Sub-types →
  • TRIP11-related skeletal dysplasia 0 trials Sub-types →
  • TRPV4-related bone disorder 0 trials Sub-types →
  • Tatton-Brown-Rahman overgrowth syndrome 0 trials
  • Weaver syndrome 0 trials
  • Yunis-Varon syndrome 0 trials
  • Acrocoxomesomelic dysplasia 0 trials
  • Adactyly of foot 0 trials Sub-types →
  • Apodia 0 trials Sub-types →
  • Autosomal dominant osteosclerosis, Worth type 0 trials
  • Autosomal recessive cutis laxa type 2 0 trials Sub-types →
  • Baby rattle pelvis dysplasia 0 trials
  • Bird headed-dwarfism, Montreal type 0 trials
  • Bone dysplasia Moore type 0 trials
  • Bone dysplasia corpus callosum agenesis 0 trials
  • Brachydactyly-elbow wrist dysplasia syndrome 0 trials
  • Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 0 trials
  • Carpotarsal osteochondromatosis 0 trials
  • Cerebrocostomandibular syndrome 0 trials
  • Chondroectodermal dysplasia with night blindness 0 trials
  • Cleidorhizomelic syndrome 0 trials
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 trials
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 trials
  • Complex lethal osteochondrodysplasia 0 trials
  • Congenital absence of both lower leg and foot 0 trials Sub-types →
  • Congenital absence of thigh and lower leg with foot present 0 trials Sub-types →
  • Congenital absence of upper arm and forearm with hand present 0 trials
  • Craniometadiaphyseal dysplasia, wormian bone type 0 trials
  • Craniotubular dysplasia, Ikegawa type 0 trials
  • De la Chapelle dysplasia 0 trials
  • Delayed membranous cranial ossification 0 trials
  • Diaphyseal medullary stenosis-bone malignancy syndrome 0 trials
  • Dyschondrosteosis-nephritis syndrome 0 trials
  • Dysplasia epiphysealis hemimelica 0 trials
  • Dysplasia of head of femur, Meyer type 0 trials
  • Dysspondyloenchondromatosis 0 trials
  • Epimetaphyseal skeletal dysplasia 0 trials
  • Familial osteodysplasia, Anderson type 0 trials
  • Fibular aplasia-ectrodactyly syndrome 0 trials
  • Genitopatellar syndrome 0 trials
  • Genochondromatosis 0 trials Sub-types →
  • Ghosal hematodiaphyseal dysplasia 0 trials
  • Hyperostosis corticalis generalisata 0 trials
  • Melorheostosis with osteopoikilosis 0 trials
  • Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
  • Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 0 trials
  • Metaphyseal acroscyphodysplasia 0 trials
  • Metaphyseal anadysplasia 0 trials Sub-types →
  • Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0 trials
  • Metaphyseal dysplasia, Braun-Tinschert type 0 trials
  • Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
  • Oculodentodigital dysplasia 0 trials Sub-types →
  • Omodysplasia 0 trials Sub-types →
  • Osteofibrous dysplasia 0 trials
  • Osteoglophonic dysplasia 0 trials
  • Pancreatic insufficiency-anemia-hyperostosis syndrome 0 trials
  • Parietal foramina 0 trials Sub-types →
  • Parietal foramina with cleidocranial dysplasia 0 trials
  • Pelvic dysplasia-arthrogryposis of lower limbs syndrome 0 trials
  • Proximal femoral focal deficiency 0 trials
  • Pseudodiastrophic dysplasia 0 trials
  • Rhizomelic dysplasia, Ain-Naz type 0 trials
  • Rhizomelic dysplasia, Patterson-Lowry type 0 trials
  • Rhizomelic syndrome, Urbach type 0 trials
  • Short stature-advanced bone age-early-onset osteoarthritis syndrome 0 trials
  • Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
  • Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 trials
  • Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
  • Spondylometaphyseal dysplasia 0 trials Sub-types →
  • Synpolydactyly 0 trials Sub-types →
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 trials
  • Thin ribs-tubular bones-dysmorphism syndrome 0 trials
  • Tricho-dento-osseous syndrome 0 trials
• Cardiogenetic disease 3 trials · 618 incl. sub-types
  73 sub-types

  • Familial cardiomyopathy 2 trials · 219 incl. sub-types Sub-types →
  • Atrial septal defect 45 trials · 78 incl. sub-types Sub-types →
  • Postural orthostatic tachycardia syndrome 71 trials
  • Cardiogenetic rhythm disorder 2 trials · 68 incl. sub-types Sub-types →
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 53 trials
  • Tetralogy of fallot 34 trials
  • Patent ductus arteriosus 28 trials Sub-types →
  • Ventricular septal defect 24 trials · 26 incl. sub-types Sub-types →
  • Familial bicuspid aortic valve 6 trials · 21 incl. sub-types Sub-types →
  • NOTCH1-related AOS spectrum disorder 0 trials · 16 incl. sub-types Sub-types →
  • Alagille syndrome 15 trials Sub-types →
  • DiGeorge syndrome 11 trials
  • Hypoplastic left heart syndrome 10 trials Sub-types →
  • CHARGE syndrome 4 trials Sub-types →
  • Velocardiofacial syndrome 4 trials
  • Supravalvular aortic stenosis 3 trials
  • Dextro-looped transposition of the great arteries 2 trials Sub-types →
  • Ellis-van Creveld syndrome 1 trial Sub-types →
  • Coronary artery disease, autosomal dominant, 1 1 trial
  • Dextrocardia 1 trial
  • Inherited mitral valve disease 0 trials · 1 incl. sub-types Sub-types →
  • Structural congenital heart disease, multiple types - GATA4 0 trials · 1 incl. sub-types Sub-types →
  • 8q24.3 microdeletion syndrome 0 trials
  • ACTC1-related distal arthrogryposis with congenital heart disease 0 trials
  • ACTN2-related cardiac and skeletal myopathy 0 trials Sub-types →
  • CHIME syndrome 0 trials
  • COG1-congenital disorder of glycosylation 0 trials
  • Ehlers-Danlos syndrome, cardiac valvular type 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes 0 trials Sub-types →
  • HAND1 related congenital heart defect 0 trials
  • HAND2 related congenital heart defect 0 trials
  • Holt-Oram syndrome 0 trials Sub-types →
  • Hordnes Engebretsen Knudtson syndrome 0 trials
  • LMNA-related cardiocutaneous progeria syndrome 0 trials
  • Larsen-like syndrome, B3GAT3 type 0 trials
  • MGAT2-congenital disorder of glycosylation 0 trials
  • MYH-6 related congenital heart defects 0 trials
  • PLD1-related congenital heart disease 0 trials
  • Peters plus syndrome 0 trials
  • RBFOX2-related congenital heart disorder 0 trials
  • Sengers syndrome 0 trials
  • TARP syndrome 0 trials
  • TFAP2B-related congenital heart disease spectrum disorder 0 trials Sub-types →
  • TNNT2-related cardiomyopathy 0 trials Sub-types →
  • Alveolar capillary dysplasia with misalignment of pulmonary veins 0 trials
  • Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
  • Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
  • Cardiac conduction disease with or without cardiomyoopathy 0 trials Sub-types →
  • Cardiac valvular dysplasia, X-linked 0 trials
  • Congenital alveolar dysplasia due to FGF10 0 trials
  • Congenital alveolar dysplasia due to TBX4 0 trials
  • Congenital heart defects, multiple types, 2 0 trials
  • Congenital heart defects, multiple types, 3 0 trials
  • Congenital heart defects, multiple types, 5 0 trials
  • Congenital heart defects, multiple types, 8, with or without heterotaxy 0 trials
  • Congenital heart defects, multiple types, 9 0 trials
  • Congenital vertebral-cardiac-renal anomalies syndrome 0 trials Sub-types →
  • Coronary artery disease, autosomal dominant 2 0 trials
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 0 trials
  • Familial atrial myxoma 0 trials
  • Familial atrioventricular septal defect 0 trials Sub-types →
  • Familial retinal arterial macroaneurysm 0 trials
  • Fibromuscular dysplasia of the coronary arteries 0 trials
  • Heart defects-limb shortening syndrome 0 trials
  • Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 trials
  • Mehta lewis patton syndrome 0 trials
  • Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 0 trials
  • Pericardial effusion, chronic 0 trials
  • Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 0 trials
  • Sinoatrial node dysfunction and deafness 0 trials
  • Transketolase deficiency 0 trials
  • Tricuspid atresia 0 trials
• Inherited hemoglobinopathy 38 trials · 440 incl. sub-types
  17 sub-types

  • Sickle cell disease 343 trials Sub-types →
  • Thalassemia 49 trials · 129 incl. sub-types Sub-types →
  • Beta-thalassemia and related diseases 0 trials · 99 incl. sub-types Sub-types →
  • Congenital nonspherocytic hemolytic anemia 1 trial · 12 incl. sub-types Sub-types →
  • Sickle cell-beta-thalassemia disease syndrome 5 trials · 9 incl. sub-types Sub-types →
  • Hemoglobin C disease 2 trials
  • Hereditary methemoglobinemia 0 trials · 1 incl. sub-types Sub-types →
  • Unstable hemoglobin disease 1 trial
  • Hemoglobin D disease 0 trials
  • Hemoglobin E disease 0 trials
  • Hemoglobinopathy Toms River 0 trials
  • Hereditary persistence of fetal hemoglobin 0 trials
  • Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0 trials
  • Homozygous hemoglobin O Arab disease 0 trials
  • Sickle cell-hemoglobin E disease syndrome 0 trials
  • Sickle cell-hemoglobin d disease syndrome 0 trials
  • Sulfhemoglobinemia, congenital 0 trials
• COPD, severe early onset 406 trials
• Hereditary skeletal muscle disorder 1 trial · 406 incl. sub-types
  33 sub-types

  • Muscular dystrophy 74 trials · 290 incl. sub-types Sub-types →
  • Congenital myopathy 8 trials · 75 incl. sub-types Sub-types →
  • Congenital diaphragmatic hernia 45 trials Sub-types →
  • Myopathy caused by variation in FKRP 0 trials · 8 incl. sub-types Sub-types →
  • Hereditary inclusion-body myopathy 1 trial · 6 incl. sub-types Sub-types →
  • Poland syndrome 2 trials
  • Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types Sub-types →
  • Inherited rippling muscle disease 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy due to myoadenylate deaminase deficiency 1 trial
  • Paramyotonia congenita of Von Eulenburg 1 trial
  • Polyglucosan body myopathy 0 trials · 1 incl. sub-types Sub-types →
  • ACTN2-related cardiac and skeletal myopathy 0 trials Sub-types →
  • Brody myopathy 0 trials
  • FHL1-related myopathy 0 trials Sub-types →
  • Wieacker-Wolff syndrome (spectrum) 0 trials Sub-types →
  • Hereditary continuous muscle fiber activity 0 trials
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 trials
  • Metabolic myopathy due to lactate transporter defect 0 trials
  • Myopathy caused by variation in POMGNT2 0 trials Sub-types →
  • Myopathy due to calsequestrin and SERCA1 protein overload 0 trials
  • Myopathy with abnormal lipid metabolism 0 trials
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0 trials
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 0 trials
  • Myopathy, sarcoplasmic body 0 trials
  • Myosclerosis 0 trials
  • Potassium-aggravated myotonia 0 trials Sub-types →
  • Proximal myopathy with extrapyramidal signs 0 trials
  • Proximal myopathy with focal depletion of mitochondria 0 trials
• X-linked disease 19 trials · 327 incl. sub-types
  50 sub-types

  • Hemophilia A 180 trials Sub-types →
  • X-linked deafness 0 trials · 32 incl. sub-types Sub-types →
  • Adrenoleukodystrophy 19 trials · 20 incl. sub-types Sub-types →
  • X-linked intellectual disability 1 trial · 15 incl. sub-types Sub-types →
  • X-linked hypophosphatemic rickets 11 trials · 12 incl. sub-types Sub-types →
  • X-linked lymphoproliferative syndrome 7 trials · 11 incl. sub-types Sub-types →
  • Wiskott-Aldrich syndrome 10 trials
  • X-linked dominant disease 0 trials · 10 incl. sub-types Sub-types →
  • X-linked erythropoietic protoporphyria 10 trials
  • X-linked recessive disease 0 trials · 10 incl. sub-types Sub-types →
  • Choroideremia 6 trials Sub-types →
  • X-linked myotubular myopathy 4 trials Sub-types →
  • X-linked retinoschisis 4 trials
  • X-linked Alport syndrome 3 trials
  • Dyskeratosis congenita, X-linked 0 trials · 3 incl. sub-types Sub-types →
  • Hyper-IgM syndrome type 1 3 trials
  • Charcot-Marie-Tooth disease type X 1 trial · 2 incl. sub-types Sub-types →
  • X-linked cone-rod dystrophy 0 trials · 2 incl. sub-types Sub-types →
  • X-linked Emery-Dreifuss muscular dystrophy 1 trial Sub-types →
  • X-linked chondrodysplasia punctata 1 trial Sub-types →
  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 1 trial
  • Diabetes insipidus, nephrogenic, X-linked 1 trial
  • Spondyloepiphyseal dysplasia tarda, X-linked 1 trial
  • Aarskog-Scott syndrome, X-linked 0 trials
  • Aland island eye disease 0 trials
  • Dyggve-Melchior-Clausen syndrome, X-linked 0 trials
  • X-linked Ehlers-Danlos syndrome 0 trials
  • X-linked Opitz G/BBB syndrome 0 trials
  • X-linked acrogigantism due to Xq26 microduplication 0 trials
  • X-linked adrenal hypoplasia congenita 0 trials Sub-types →
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 trials
  • X-linked cerebellar ataxia 0 trials Sub-types →
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
  • X-linked complex neurodevelopmental disorder 0 trials Sub-types →
  • X-linked congenital hemolytic anemia 0 trials
  • X-linked congenital stationary night blindness 0 trials Sub-types →
  • X-linked distal spinal muscular atrophy type 3 0 trials
  • X-linked hypohidrotic ectodermal dysplasia 0 trials
  • X-linked immunoneurologic disorder 0 trials
  • X-linked lethal multiple pterygium syndrome 0 trials
  • X-linked lissencephaly with abnormal genitalia 0 trials
  • X-linked mandibulofacial dysostosis 0 trials
  • X-linked severe congenital neutropenia 0 trials
  • X-linked sideroblastic anemia 1 0 trials
  • Cone dystrophy, X-linked, with tapetal-like sheen 0 trials
  • Epidermodysplasia verruciformis, X-linked 0 trials
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 trials
  • Exudative vitreoretinopathy 2, X-linked 0 trials
  • Leukemia, acute, X-linked 0 trials
  • Macular dystrophy, X-linked 0 trials
• Inherited blood coagulation disorder 8 trials · 323 incl. sub-types
  39 sub-types

  • Hemophilia A 180 trials Sub-types →
  • Hemophilia B 84 trials · 91 incl. sub-types Sub-types →
  • Hereditary von Willebrand disease 18 trials · 29 incl. sub-types Sub-types →
  • Inherited thrombophilia 0 trials · 28 incl. sub-types Sub-types →
  • Hereditary hemolytic uremic syndrome 0 trials · 19 incl. sub-types Sub-types →
  • Wiskott-Aldrich syndrome 10 trials
  • Glanzmann thrombasthenia 8 trials Sub-types →
  • Platelet-type bleeding disorder 10 8 trials
  • Congenital thrombotic thrombocytopenic purpura 5 trials
  • Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 1 trial · 5 incl. sub-types Sub-types →
  • Hermansky-Pudlak syndrome 4 trials Sub-types →
  • Congenital vitamin K-dependent coagulation factors deficiency 0 trials · 4 incl. sub-types Sub-types →
  • Congenital factor XII deficiency 1 trial
  • Congenital plasminogen activator inhibitor type 1 deficiency 1 trial
  • Hypoplasminogenemia 1 trial
  • Ehlers-Danlos syndrome, fibronectinemic type 0 trials
  • Scott syndrome 0 trials
  • Tatsumi factor deficiency 0 trials
  • Alpha-2-plasmin inhibitor deficiency 0 trials
  • Congenital factor V deficiency 0 trials
  • Congenital factor XI deficiency 0 trials
  • Congenital high-molecular-weight kininogen deficiency 0 trials
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 0 trials
  • Dysplasminogenemia 0 trials
  • Factor 5 and Factor VIII, combined deficiency of, 2 0 trials
  • Factor V and factor VIII, combined deficiency of, type 1 0 trials
  • Factor VII and Factor VIII, combined deficiency of 0 trials
  • Factor XIII, A subunit, deficiency of 0 trials
  • Factor XIII, b subunit, deficiency of 0 trials
  • Familial thrombomodulin anomalies 0 trials
  • Hereditary thrombocytosis with transverse limb defect 0 trials
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0 trials
  • Inherited prekallikrein deficiency 0 trials
  • Plasminogen deficiency, type II 0 trials
  • Platelet-type bleeding disorder 12 0 trials
  • Platelet-type bleeding disorder 14 0 trials
  • Platelet-type bleeding disorder 16 0 trials
  • Platelet-type bleeding disorder 18 0 trials
  • Platelet-type bleeding disorder 8 0 trials
• Hereditary dementia 2 trials · 322 incl. sub-types
  15 sub-types

  • Frontotemporal dementia 132 trials · 178 incl. sub-types Sub-types →
  • Familial Alzheimer disease 13 trials · 55 incl. sub-types Sub-types →
  • Autosomal dominant cerebellar ataxia 11 trials · 33 incl. sub-types Sub-types →
  • Adrenoleukodystrophy 19 trials · 20 incl. sub-types Sub-types →
  • Corticobasal syndrome 20 trials
  • Metachromatic leukodystrophy 20 trials Sub-types →
  • Frontotemporal dementia with motor neuron disease 14 trials · 19 incl. sub-types Sub-types →
  • Huntington disease-like syndrome 0 trials · 17 incl. sub-types Sub-types →
  • Posterior cortical atrophy 12 trials
  • Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types Sub-types →
  • Alzheimer disease 17 1 trial
  • Alzheimer disease 18 1 trial
  • Neuronal intranuclear inclusion disease 1 trial
  • PRKAR1B-related neurodegenerative dementia with intermediate filaments 0 trials
  • Hereditary sensory neuropathy-deafness-dementia syndrome 0 trials
• Inherited kidney disorder 1 trial · 317 incl. sub-types
  26 sub-types

  • Hereditary nephritis 17 trials · 152 incl. sub-types Sub-types →
  • Familial cystic renal disease 0 trials · 72 incl. sub-types Sub-types →
  • Inherited renal tubular disease 0 trials · 40 incl. sub-types Sub-types →
  • Familial nephrotic syndrome 0 trials · 22 incl. sub-types Sub-types →
  • Congenital anomaly of kidney and urinary tract 7 trials · 14 incl. sub-types Sub-types →
  • Nephrolithiasis, calcium oxalate 13 trials Sub-types →
  • Neurohypophyseal diabetes insipidus 9 trials
  • Hereditary renal cell carcinoma 1 trial · 7 incl. sub-types Sub-types →
  • Inherited focal segmental glomerulosclerosis 1 trial · 4 incl. sub-types Sub-types →
  • Inherited pseudohypoaldosteronism 0 trials · 4 incl. sub-types Sub-types →
  • Renal agenesis 1 trial · 2 incl. sub-types Sub-types →
  • Liddle syndrome 1 trial Sub-types →
  • Hereditary kidney oncocytoma 1 trial
  • Prune belly syndrome 1 trial
  • Alsing syndrome 0 trials
  • Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation 0 trials
  • Familial juvenile hyperuricemic nephropathy 0 trials Sub-types →
  • Familial renal glucosuria 0 trials
  • Fibronectin glomerulopathy 0 trials Sub-types →
  • Hypophosphatemic nephrolithiasis/osteoporosis 1 0 trials
  • Hypophosphatemic nephrolithiasis/osteoporosis 2 0 trials
  • Inherited distal renal tubular acidosis 0 trials Sub-types →
  • Nail-patella-like renal disease 0 trials
  • Nephrolithiasis, X-linked recessive, with renal failure 0 trials
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 0 trials
  • Renal tubular dysgenesis of genetic origin 0 trials Sub-types →
• Cataract 294 trials · 305 incl. sub-types
  29 sub-types

  • Senile cataract 49 trials · 52 incl. sub-types Sub-types →
  • Nuclear cataract 5 trials · 6 incl. sub-types Sub-types →
  • Diabetic cataract 1 trial
  • Early-onset non-syndromic cataract 1 trial Sub-types →
  • Hypermature cataract 1 trial Sub-types →
  • Immature cataract 1 trial
  • Mature cataract 1 trial
  • Kozlowski Rafinski Klicharska syndrome 0 trials
  • Autosomal dominant cataract 0 trials Sub-types →
  • Bhaskar jagannathan syndrome 0 trials
  • Cataract 1 multiple types 0 trials
  • Cataract 12 multiple types 0 trials
  • Cataract 18 0 trials
  • Cataract 2, multiple types 0 trials
  • Cataract 28 0 trials
  • Cataract 29 0 trials
  • Cataract 3 multiple types 0 trials
  • Cataract 34 multiple types 0 trials
  • Cataract 36 0 trials
  • Cataract 4 multiple types 0 trials
  • Cataract 48 0 trials
  • Cataract 49 0 trials
  • Cataract 50 with or without glaucoma 0 trials
  • Cataract 9 multiple types 0 trials
  • Cortical cataract 0 trials Sub-types →
  • Craniostenosis cataract 0 trials
  • Diabetes mellitus type 2 associated cataract 0 trials
  • Myotonic cataract 0 trials
  • Tetanic cataract 0 trials
• Myopia 259 trials · 274 incl. sub-types
  30 sub-types

  • Degenerative myopia 38 trials
  • Myopia, high, with cataract and vitreoretinal degeneration 1 trial
  • Myopia 1, X-linked 0 trials
  • Myopia 10 0 trials
  • Myopia 11, autosomal dominant 0 trials
  • Myopia 12, autosomal dominant 0 trials
  • Myopia 13, X-linked 0 trials
  • Myopia 14 0 trials
  • Myopia 15, autosomal dominant 0 trials
  • Myopia 16, autosomal dominant 0 trials
  • Myopia 17, autosomal dominant 0 trials
  • Myopia 18, autosomal recessive 0 trials
  • Myopia 19, autosomal dominant 0 trials
  • Myopia 2, autosomal dominant 0 trials
  • Myopia 20, autosomal dominant 0 trials
  • Myopia 21, autosomal dominant 0 trials
  • Myopia 22, autosomal dominant 0 trials
  • Myopia 23, autosomal recessive 0 trials
  • Myopia 24, autosomal dominant 0 trials
  • Myopia 25, autosomal dominant 0 trials
  • Myopia 26, X-linked, female-limited 0 trials
  • Myopia 27 0 trials
  • Myopia 28, autosomal recessive 0 trials
  • Myopia 3, autosomal dominant 0 trials
  • Myopia 5, autosomal dominant 0 trials
  • Myopia 6 0 trials
  • Myopia 7 0 trials
  • Myopia 8 0 trials
  • Myopia 9 0 trials
  • Schizophrenia 16 0 trials
• Preeclampsia 232 trials · 236 incl. sub-types
  7 sub-types

  • Severe pre-eclampsia 27 trials · 38 incl. sub-types Sub-types →
  • Mild pre-eclampsia 9 trials
  • Preeclampsia/eclampsia 1 1 trial
  • Preeclampsia/eclampsia 2 0 trials
  • Preeclampsia/eclampsia 3 0 trials
  • Preeclampsia/eclampsia 4 0 trials
  • Preeclampsia/eclampsia 5 0 trials
• Burkitt lymphoma 221 trials
  2 sub-types

  • Colon Burkitt lymphoma 0 trials
  • Small intestinal Burkitt lymphoma 0 trials
• Gastroesophageal reflux disease 217 trials
  1 sub-type

  • Duodenogastric reflux 0 trials
• Intervertebral disk degenerative disorder 123 trials · 217 incl. sub-types
  3 sub-types

  • Lumbar disk degenerative disorder 165 trials
  • Cervical disk degenerative disorder 42 trials
  • Thoracic disk degenerative disorder 2 trials
• Polycystic ovary syndrome 201 trials
• Classic Hodgkin lymphoma 147 trials · 149 incl. sub-types
  4 sub-types

  • Hodgkin's lymphoma, mixed cellularity 4 trials
  • Hodgkin's lymphoma, lymphocytic depletion 2 trials
  • Nodular sclerosis classical Hodgkin lymphoma 2 trials
  • Hodgkin's lymphoma, lymphocytic-histiocytic predominance 1 trial
• Ewing sarcoma 125 trials · 126 incl. sub-types
  2 sub-types

  • Ewing sarcoma of bone 5 trials
  • Extraskeletal Ewing sarcoma 3 trials
• Bronchiectasis 119 trials · 120 incl. sub-types
  1 sub-type

  • Idiopathic bronchiectasis 3 trials Sub-types →
• Inherited auditory system disease 0 trials · 120 incl. sub-types
  12 sub-types

  • Nonsyndromic genetic hearing loss 4 trials · 67 incl. sub-types Sub-types →
  • X-linked deafness 0 trials · 32 incl. sub-types Sub-types →
  • Benign paroxysmal positional vertigo 18 trials
  • Meniere disease 16 trials Sub-types →
  • Motion sickness 14 trials · 16 incl. sub-types Sub-types →
  • Auditory neuropathy 7 trials · 11 incl. sub-types Sub-types →
  • Otosclerosis 4 trials Sub-types →
  • Johanson-Blizzard syndrome 0 trials
  • Age-related hearing impairment 1 0 trials
  • Age-related hearing impairment 2 0 trials
  • Tympanic paraganglioma 0 trials
  • Vertigo, benign recurrent, 1 0 trials
• Hereditary otorhinolaryngologic disease 0 trials · 102 incl. sub-types
  21 sub-types

  • X-linked mixed hearing loss with perilymphatic gusher 32 trials
  • Benign paroxysmal positional vertigo 18 trials
  • Meniere disease 16 trials Sub-types →
  • Motion sickness 14 trials · 16 incl. sub-types Sub-types →
  • Familial congenital nasolacrimal duct obstruction 7 trials
  • Choanal atresia 4 trials Sub-types →
  • Otosclerosis 4 trials Sub-types →
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2 trials
  • Familial thyroglossal duct cyst 2 trials
  • BNAR syndrome 1 trial
  • Aural atresia, congenital 1 trial
  • Second branchial cleft anomaly 1 trial
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 1 trial
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 0 trials
  • Bifid nose, autosomal recessive 0 trials Sub-types →
  • Familial nasal acilia 0 trials
  • Isolated congenital anosmia 0 trials
  • Nasal dermoid cyst 0 trials
  • Tonsillar lymphoma 0 trials
  • Tympanic paraganglioma 0 trials
  • Vertigo, benign recurrent, 1 0 trials
• Osteonecrosis of genetic origin 0 trials · 102 incl. sub-types
  12 sub-types

  • Familial avascular necrosis of femoral head 20 trials · 39 incl. sub-types Sub-types →
  • Scheuermann disease 24 trials
  • Osteochondritis dissecans 20 trials
  • Gaucher disease type I 12 trials
  • Legg-Calve-Perthes disease 9 trials
  • Dihydropyrimidine dehydrogenase deficiency 3 trials
  • Epiphysiolysis of the hip 3 trials
  • Hereditary antithrombin deficiency 3 trials
  • Thiemann disease, familial form 0 trials
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 0 trials
  • Pseudohypoparathyroidism type 1C 0 trials
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 trials
• RASopathy 9 trials · 101 incl. sub-types
  4 sub-types

  • Neurofibromatosis type 1 73 trials Sub-types →
  • Noonan syndrome and Noonan-related syndrome 1 trial · 29 incl. sub-types Sub-types →
  • Neurofibromatosis-Noonan syndrome 2 trials Sub-types →
  • CBL-related disorder 1 trial
• Lymphoproliferative syndrome 70 trials · 100 incl. sub-types
  8 sub-types

  • Castleman disease 8 trials · 18 incl. sub-types Sub-types →
  • Autoimmune lymphoproliferative syndrome 11 trials · 12 incl. sub-types Sub-types →
  • X-linked lymphoproliferative syndrome 7 trials · 11 incl. sub-types Sub-types →
  • Dianzani autoimmune lymphoproliferative disease 0 trials
  • Atypical lymphoproliferative disorder 0 trials
  • Lymphoproliferative syndrome 1 0 trials
  • Lymphoproliferative syndrome 2 0 trials
  • Severe combined immunodeficiency due to CD70 deficiency 0 trials
• Hypogonadotropic hypogonadism 19 trials · 100 incl. sub-types
  10 sub-types

  • Congenital hypogonadotropic hypogonadism 0 trials · 83 incl. sub-types Sub-types →
  • Kallmann syndrome 3 trials Sub-types →
  • Hypogonadotropic hypogonadism 24 without anosmia 1 trial
  • Hypogonadotropic hypogonadism 10 with or without anosmia 0 trials
  • Hypogonadotropic hypogonadism 12 with or without anosmia 0 trials
  • Hypogonadotropic hypogonadism 13 with or without anosmia 0 trials
  • Hypogonadotropic hypogonadism 23 with or without anosmia 0 trials
  • Hypogonadotropic hypogonadism 25 with anosmia 0 trials
  • Hypogonadotropic hypogonadism 26 with or without anosmia 0 trials
  • Hypogonadotropic hypogonadism 27 without anosmia 0 trials
• Gastrointestinal stromal tumor 93 trials
• Familial polycythemia 1 trial · 92 incl. sub-types
  8 sub-types

  • Acquired polycythemia vera 90 trials
  • Erythrocytosis, familial, 4 2 trials
  • Chuvash polycythemia 0 trials
  • Erythrocytosis, familial, 3 0 trials
  • Erythrocytosis, familial, 5 0 trials
  • Erythrocytosis, familial, 6 0 trials
  • Erythrocytosis, familial, 7 0 trials
  • Primary familial polycythemia due to EPO receptor mutation 0 trials
• Familial colorectal cancer 3 trials · 91 incl. sub-types
  4 sub-types

  • Hereditary nonpolyposis colon cancer 5 trials · 88 incl. sub-types Sub-types →
  • POLD1-related polyposis and colorectal cancer syndrome 0 trials
  • POLE-related polyposis and colorectal cancer syndrome 0 trials
  • Colon Burkitt lymphoma 0 trials
• Celiac disease 81 trials
  1 sub-type

  • Lane Hamilton syndrome 0 trials
• Cirrhosis, familial 4 trials · 79 incl. sub-types
  3 sub-types

  • Primary biliary cholangitis 74 trials Sub-types →
  • Isolated congenital hepatic fibrosis 2 trials
  • Cirrhosis, familial, with antigenemia 0 trials
• Spondylolisthesis 77 trials
  1 sub-type

  • Jaffer-Beighton syndrome 0 trials
• Orofacial cleft 4 trials · 69 incl. sub-types
  16 sub-types

  • Cleft palate 34 trials · 35 incl. sub-types Sub-types →
  • Cleft lip 31 trials Sub-types →
  • Cleft lip/palate 31 trials Sub-types →
  • Cleft lip and alveolus 17 trials Sub-types →
  • Orofacial cleft 1 1 trial
  • ARHGAP29-related non-syndromic orofacial cleft 0 trials
  • GRHL3-related orofacial clefting 0 trials
  • Cleft lip/palate-ectodermal dysplasia syndrome 0 trials
  • Familial median cleft of the upper and lower lips 0 trials
  • Orofacial cleft 12 0 trials
  • Orofacial cleft 13 0 trials
  • Orofacial cleft 2 0 trials
  • Orofacial cleft 4 0 trials
  • Orofacial cleft 7 0 trials
  • Orofacial cleft 8 0 trials
  • Orofacial cleft 9 0 trials
• Developmental dysplasia of the hip 62 trials
  4 sub-types

  • Developmental dysplasia of the hip 1 5 trials
  • Developmental dysplasia of the hip 2 0 trials
  • Developmental dysplasia of the hip 3 0 trials
  • Developmental dysplasia of the hip 4 0 trials
• Keratoconus 61 trials
  11 sub-types

  • Keratoconus, stable condition 2 trials
  • Acute hydrops keratoconus 0 trials
  • Keratoconus 1 0 trials
  • Keratoconus 2 0 trials
  • Keratoconus 3 0 trials
  • Keratoconus 4 0 trials
  • Keratoconus 5 0 trials
  • Keratoconus 6 0 trials
  • Keratoconus 7 0 trials
  • Keratoconus 8 0 trials
  • Keratoconus 9 0 trials
• Anodontia 59 trials
  3 sub-types

  • Aloi Tomasini Isaia syndrome 0 trials
  • Mehta lewis patton syndrome 0 trials
  • Microdontia hypodontia short stature 0 trials
• Enterocolitis 3 trials · 58 incl. sub-types
  2 sub-types

  • Necrotizing enterocolitis 51 trials Sub-types →
  • Food protein-induced enterocolitis syndrome 5 trials
• Lymphatic malformation 17 trials · 56 incl. sub-types
  28 sub-types

  • Noonan syndrome 22 trials · 25 incl. sub-types Sub-types →
  • Lymphatic malformation 5 8 trials
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 4 trials
  • Lymphatic malformation 12 2 trials
  • MPI-congenital disorder of glycosylation 1 trial
  • Deafness-lymphedema-leukemia syndrome 1 trial
  • Dahlberg-Borer-Newcomer syndrome 0 trials
  • Hennekam syndrome 0 trials Sub-types →
  • Norman-Roberts syndrome 0 trials
  • Campomelia, Cumming type 0 trials
  • Congenital primary lymphedema of Gordon 0 trials
  • Hypotrichosis-lymphedema-telangiectasia syndrome 0 trials
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 trials
  • Lymphatic malformation 1 0 trials
  • Lymphatic malformation 10 0 trials
  • Lymphatic malformation 11 0 trials
  • Lymphatic malformation 13 0 trials
  • Lymphatic malformation 14 0 trials
  • Lymphatic malformation 2 0 trials
  • Lymphatic malformation 3 0 trials
  • Lymphatic malformation 4 0 trials
  • Lymphatic malformation 6 0 trials
  • Lymphatic malformation 7 0 trials
  • Lymphatic malformation 8 0 trials
  • Lymphatic malformation 9 0 trials
  • Lymphedema-distichiasis syndrome 0 trials
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
  • Yellow nail syndrome 0 trials
• Synovial sarcoma 53 trials
  5 sub-types

  • Biphasic synovial sarcoma 0 trials
  • Breast synovial sarcoma 0 trials
  • Fibrous synovial sarcoma 0 trials
  • Mediastinum synovial sarcoma 0 trials
  • Monophasic synovial sarcoma 0 trials Sub-types →
• Inherited aplastic anemia 2 trials · 53 incl. sub-types
  5 sub-types

  • Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
  • Diamond-Blackfan anemia 17 trials Sub-types →
  • WT limb-blood syndrome 0 trials
  • Autosomal dominant aplasia and myelodysplasia 0 trials
  • Pancytopenia-developmental delay syndrome 0 trials
• Hereditary glaucoma 0 trials · 50 incl. sub-types
  12 sub-types

  • Exfoliation syndrome 32 trials
  • Juvenile open angle glaucoma 7 trials · 15 incl. sub-types Sub-types →
  • Congenital glaucoma 7 trials · 8 incl. sub-types Sub-types →
  • Anterior segment dysgenesis 3 1 trial
  • Iris hypoplasia with glaucoma 1 trial
  • OPTN-related open angle glaucoma 0 trials
  • TEK-related primary glaucoma 0 trials Sub-types →
  • Glaucoma 1, open angle, O 0 trials
  • Glaucoma 1, open angle, P 0 trials
  • Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 0 trials
  • Glaucoma with elevated episcleral venous pressure 0 trials
  • Hereditary glaucoma, primary closed-angle 0 trials
• Ciliopathy 2 trials · 49 incl. sub-types
  36 sub-types

  • Primary ciliary dyskinesia 34 trials Sub-types →
  • Bardet-Biedl syndrome 6 trials · 7 incl. sub-types Sub-types →
  • Nephronophthisis 1 4 trials
  • CEP290-related ciliopathy 0 trials · 2 incl. sub-types Sub-types →
  • Jeune syndrome 1 trial · 2 incl. sub-types Sub-types →
  • Joubert syndrome 2 trials Sub-types →
  • KIF7-related ciliopathy 0 trials · 2 incl. sub-types Sub-types →
  • Senior-Loken syndrome 1 trial · 2 incl. sub-types Sub-types →
  • Retinal ciliopathy 0 trials · 2 incl. sub-types Sub-types →
  • Alstrom syndrome 1 trial
  • BBS1-related ciliopathy 0 trials · 1 incl. sub-types Sub-types →
  • MKS1-related ciliopathy 0 trials · 1 incl. sub-types Sub-types →
  • Meckel syndrome 0 trials · 1 incl. sub-types Sub-types →
  • OFD1-related ciliopathy 0 trials · 1 incl. sub-types Sub-types →
  • ARL6-related ciliopathy 0 trials Sub-types →
  • Alsahan-Harris syndrome 0 trials
  • BBS10-related ciliopathy 0 trials Sub-types →
  • BBS12-related ciliopathy 0 trials Sub-types →
  • BBS2-related ciliopathy 0 trials Sub-types →
  • BBS4-related ciliopathy 0 trials Sub-types →
  • BBS5-related ciliopathy 0 trials Sub-types →
  • BBS7-related ciliopathy 0 trials Sub-types →
  • BBS9-related ciliopathy 0 trials Sub-types →
  • CEP164-related ciliopathy 0 trials Sub-types →
  • CFAP418-related ciliopathy 0 trials Sub-types →
  • IFT140-related recessive ciliopathy 0 trials Sub-types →
  • INTU-related skeletal ciliopathy 0 trials Sub-types →
  • LZTFL1-related ciliopathy 0 trials Sub-types →
  • MKKS-related ciliopathy 0 trials Sub-types →
  • Marden-Walker syndrome 0 trials
  • SDCCAG8-related ciliopathy 0 trials Sub-types →
  • TTC8-related ciliopathy 0 trials Sub-types →
  • TUBB4B-related ciliopathy 0 trials Sub-types →
  • WDPCP-related ciliopathy 0 trials Sub-types →
  • Ciliopathy-IFT74 0 trials Sub-types →
  • Oculocerebrodental syndrome 0 trials
• Bone marrow failure syndrome 48 trials
  8 sub-types

  • AMED syndrome, digenic 0 trials
  • Ziegler-Huang syndrome 0 trials
  • Autosomal dominant aplasia and myelodysplasia 0 trials
  • Bone marrow failure syndrome 3 0 trials
  • Bone marrow failure syndrome 4 0 trials
  • Bone marrow failure syndrome 5 0 trials
  • Bone marrow failure syndrome 6 0 trials
  • Pancytopenia-developmental delay syndrome 0 trials
• Inherited primary ovarian failure 2 trials · 48 incl. sub-types
  41 sub-types

  • Turner syndrome 29 trials Sub-types →
  • Ataxia telangiectasia 11 trials Sub-types →
  • Classic galactosemia 3 trials
  • Trisomy X 3 trials
  • 46 XX gonadal dysgenesis 1 trial Sub-types →
  • Congenital lipoid adrenal hyperplasia due to STAR deficency 1 trial Sub-types →
  • Premature ovarian failure 1 1 trial Sub-types →
  • 46,XX ovarian dysgenesis-short stature syndrome 0 trials
  • Perrault syndrome 0 trials Sub-types →
  • Satoyoshi syndrome 0 trials
  • X small rings 0 trials
  • Aromatase deficiency 0 trials
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 trials Sub-types →
  • Osteosclerosis-ichthyosis-premature ovarian failure syndrome 0 trials
  • Premature ovarian failure 10 0 trials
  • Premature ovarian failure 11 0 trials
  • Premature ovarian failure 12 0 trials
  • Premature ovarian failure 13 0 trials
  • Premature ovarian failure 14 0 trials
  • Premature ovarian failure 15 0 trials
  • Premature ovarian failure 16 0 trials
  • Premature ovarian failure 17 0 trials
  • Premature ovarian failure 18 0 trials
  • Premature ovarian failure 19 0 trials
  • Premature ovarian failure 20 0 trials
  • Premature ovarian failure 21 0 trials
  • Premature ovarian failure 22 0 trials
  • Premature ovarian failure 23 0 trials
  • Premature ovarian failure 24 0 trials
  • Premature ovarian failure 25 0 trials
  • Premature ovarian failure 26 0 trials
  • Premature ovarian failure 2A 0 trials
  • Premature ovarian failure 2B 0 trials
  • Premature ovarian failure 3 0 trials
  • Premature ovarian failure 4 0 trials
  • Premature ovarian failure 5 0 trials
  • Premature ovarian failure 6 0 trials
  • Premature ovarian failure 7 0 trials
  • Premature ovarian failure 8 0 trials
  • Premature ovarian failure 9 0 trials
  • Tetrasomy X 0 trials
• Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types
  25 sub-types

  • Ehlers-Danlos syndrome, hypermobility type 15 trials
  • Joint laxity, familial 14 trials
  • Ehlers-Danlos syndrome, vascular type 6 trials Sub-types →
  • Bethlem myopathy 2 0 trials
  • COL1A1-related Ehlers-Danlos syndrome 0 trials Sub-types →
  • COL1A2-related Ehlers-Danlos syndrome 0 trials Sub-types →
  • Ehlers-Danlos syndrome due to tenascin-X deficiency 0 trials
  • Ehlers-Danlos syndrome, Beasley-Cohen type 0 trials
  • Ehlers-Danlos syndrome, arthrochalasia type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, autosomal dominant, type unspecified 0 trials
  • Ehlers-Danlos syndrome, classic type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, classic-like, 2 0 trials
  • Ehlers-Danlos syndrome, classic-like, 3 0 trials
  • Ehlers-Danlos syndrome, dermatosparaxis type 0 trials
  • Ehlers-Danlos syndrome, fibronectinemic type 0 trials
  • Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, periodontitis type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, vascular-like type 0 trials
  • Ehlers-Danlos/osteogenesis imperfecta syndrome 0 trials Sub-types →
  • X-linked Ehlers-Danlos syndrome 0 trials
  • Brittle cornea syndrome 0 trials Sub-types →
  • Spondylodysplastic Ehlers-Danlos syndrome 0 trials
• Malocclusion due to protuberant upper front teeth 41 trials
• Craniosynostosis 17 trials · 39 incl. sub-types
  29 sub-types

  • Syndromic craniosynostosis 1 trial · 22 incl. sub-types Sub-types →
  • Isolated craniosynostosis 1 trial · 3 incl. sub-types Sub-types →
  • Craniosynostosis syndrome, autosomal recessive 0 trials · 2 incl. sub-types Sub-types →
  • Hordnes Engebretsen Knudtson syndrome 0 trials
  • Iida Kannari syndrome 0 trials
  • Craniosynostosis Fontaine type 0 trials
  • Craniosynostosis Maroteaux Fonfria type 0 trials
  • Craniosynostosis alopecia brain defect 0 trials
  • Craniosynostosis arthrogryposis cleft palate 0 trials
  • Craniosynostosis autosomal dominant 0 trials
  • Craniosynostosis cleft lip palate arthrogryposis 0 trials
  • Craniosynostosis contractures cleft 0 trials
  • Craniosynostosis exostoses nevus epibulbar dermoid 0 trials
  • Craniosynostosis intellectual disability heart defects 0 trials
  • Craniosynostosis with ectopia lentis 0 trials
  • Craniosynostosis with ocular abnormalities and hallucal defects 0 trials
  • Craniosynostosis, Adelaide type 0 trials
  • Mehta lewis patton syndrome 0 trials
  • Non-syndromic bicoronal and metopic craniosynostosis 0 trials
  • Non-syndromic bicoronal and sagittal craniosynostosis 0 trials
  • Non-syndromic bilambdoid craniosynostosis 0 trials
  • Non-syndromic metopic and sagittal craniosynostosis 0 trials
  • Non-syndromic multisutural craniosynostosis 0 trials
  • Non-syndromic non-specific multisutural craniosynostosis 0 trials
  • Non-syndromic unicoronal and sagittal craniosynostosis 0 trials
  • Non-syndromic unicoronal craniosynostosis 0 trials
  • Non-syndromic unifrontosphenoidal craniosynostosis 0 trials
  • Non-syndromic unilambdoid craniosynostosis 0 trials
  • Non-syndromic unisquamosal craniosynostosis 0 trials
• Chronic granulomatous disease 37 trials
  7 sub-types

  • Granulomatous disease, chronic, X-linked 10 trials
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 3 trials
  • Granulomatous disease with defect in neutrophil chemotaxis 0 trials
  • Granulomatous disease, chronic, autosomal recessive, 5 0 trials
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 trials
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 trials
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 trials
• Hypospadias 35 trials
  5 sub-types

  • Hypospadias 1, X-linked 0 trials
  • Hypospadias 2, X-linked 0 trials
  • Hypospadias 3, autosomal 0 trials
  • Hypospadias 4, X-linked 0 trials
  • Isolated female hypospadias 0 trials
• Preterm premature rupture of the membranes 35 trials
• Hereditary hyperparathyroidism 1 trial · 35 incl. sub-types
  2 sub-types

  • Familial primary hyperparathyroidism 1 trial · 35 incl. sub-types Sub-types →
  • Hyperparathyroidism, transient neonatal 0 trials
• Fragile X syndrome 34 trials
  4 sub-types

  • Fragile X syndrome type 1 0 trials
  • Fragile X syndrome type 2 0 trials
  • Fragile X syndrome type 3 0 trials
  • Symptomatic form of fragile X syndrome in female carrier 0 trials
• Fuchs' endothelial dystrophy 33 trials
  8 sub-types

  • Corneal dystrophy, Fuchs endothelial, 1 1 trial
  • Corneal dystrophy, Fuchs endothelial, 3 0 trials
  • Corneal dystrophy, Fuchs endothelial, 4 0 trials
  • Corneal dystrophy, Fuchs endothelial, 6 0 trials
  • Corneal dystrophy, Fuchs endothelial, 8 0 trials
  • Corneal dystrophy, fuchs endothelial, 2 0 trials
  • Corneal dystrophy, fuchs endothelial, 5 0 trials
  • Corneal dystrophy, fuchs endothelial, 7 0 trials
• Pilonidal sinus 33 trials
• Spondylosis, cervical 33 trials
• Arteriovenous malformations of the brain 32 trials
• MALT lymphoma 30 trials · 31 incl. sub-types
  5 sub-types

  • Gastric mucosa-associated lymphoid tissue lymphoma 2 trials
  • Breast mucosa-associated lymphoid tissue lymphoma 0 trials
  • Small intestinal mucosa-associated lymphoid tissue lymphoma 0 trials
  • Thyroid gland mucosa-associated lymphoid tissue lymphoma 0 trials
  • Tonsillar lymphoma 0 trials
• Deafness, unilateral 30 trials
• Hirschsprung disease 29 trials
• Inherited thrombocytopenia 2 trials · 29 incl. sub-types
  21 sub-types

  • Thrombocytopenia 1 9 trials
  • Syndromic constitutional thrombocytopenia 0 trials · 8 incl. sub-types Sub-types →
  • Congenital amegakaryocytic thrombocytopenia 4 trials · 6 incl. sub-types Sub-types →
  • Congenital thrombotic thrombocytopenic purpura 5 trials
  • Alpha granule disease 0 trials Sub-types →
  • Autosomal dominant macrothrombocytopenia 0 trials Sub-types →
  • Congenital autosomal recessive small-platelet thrombocytopenia 0 trials
  • Isolated delta-storage pool disease 0 trials
  • Macrothrombocytopenia, isolated 0 trials Sub-types →
  • Thrombocytopenia 10 0 trials
  • Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies 0 trials
  • Thrombocytopenia 12 with or without myopathy 0 trials
  • Thrombocytopenia 13, syndromic 0 trials
  • Thrombocytopenia 2 0 trials
  • Thrombocytopenia 3 0 trials
  • Thrombocytopenia 4 0 trials
  • Thrombocytopenia 5 0 trials
  • Thrombocytopenia 7 0 trials
  • Thrombocytopenia 9 0 trials
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 0 trials Sub-types →
  • Thrombocytopenia, cyclic 0 trials
• Pathological gambling 28 trials
• Familial hemolytic anemia 4 trials · 27 incl. sub-types
  23 sub-types

  • Congenital nonspherocytic hemolytic anemia 1 trial · 12 incl. sub-types Sub-types →
  • Congenital dyserythropoietic anemia 4 trials · 5 incl. sub-types Sub-types →
  • Abetalipoproteinemia 2 trials
  • Cutaneous porphyria 2 trials
  • Hereditary spherocytosis 2 trials Sub-types →
  • Southeast Asian ovalocytosis 2 trials
  • Glycogen storage disease VII 1 trial
  • Glycogen storage disease due to aldolase A deficiency 1 trial
  • Rh deficiency syndrome 0 trials
  • X-linked congenital hemolytic anemia 0 trials
  • Cryohydrocytosis 0 trials
  • Dehydrated hereditary stomatocytosis 2 0 trials
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 trials
  • Elliptocytosis 1 0 trials
  • Elliptocytosis 2 0 trials
  • Familial pseudohyperkalemia 0 trials
  • Hemolytic anemia due to diphosphoglycerate mutase deficiency 0 trials
  • Hemolytic disease of fetus and newborn, RH-induced 0 trials
  • Hereditary cryohydrocytosis with reduced stomatin 0 trials
  • Overhydrated hereditary stomatocytosis 0 trials
  • Primary CD59 deficiency 0 trials
  • Renal tubular acidosis, distal, 4, with hemolytic anemia 0 trials
  • Triosephosphate isomerase deficiency 0 trials
• Oculocerebral hypopigmentation syndrome of Preus 26 trials
• Syncope, familial vasovagal 26 trials
• Inherited bleeding disorder, platelet-type 6 trials · 26 incl. sub-types
  28 sub-types

  • Glanzmann thrombasthenia 8 trials Sub-types →
  • Platelet-type bleeding disorder 10 8 trials
  • Congenital thrombotic thrombocytopenic purpura 5 trials
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 trial
  • Bernard-Soulier syndrome 0 trials Sub-types →
  • Ehlers-Danlos syndrome, fibronectinemic type 0 trials
  • Quebec platelet disorder 0 trials
  • Scott syndrome 0 trials
  • Bleeding diathesis due to thromboxane synthesis deficiency 0 trials
  • Bleeding disorder, platelet-type, 21 0 trials
  • Bleeding disorder, platelet-type, 22 0 trials
  • Bleeding disorder, platelet-type, 24 0 trials
  • Bleeding disorder, platelet-type, 25 0 trials
  • Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 0 trials
  • Gray platelet syndrome 0 trials
  • Platelet-type bleeding disorder 11 0 trials
  • Platelet-type bleeding disorder 12 0 trials
  • Platelet-type bleeding disorder 14 0 trials
  • Platelet-type bleeding disorder 15 0 trials
  • Platelet-type bleeding disorder 16 0 trials
  • Platelet-type bleeding disorder 17 0 trials
  • Platelet-type bleeding disorder 18 0 trials
  • Platelet-type bleeding disorder 19 0 trials
  • Platelet-type bleeding disorder 20 0 trials
  • Platelet-type bleeding disorder 8 0 trials
  • Platelet-type bleeding disorder 9 0 trials
  • Platelet-type von Willebrand disease 0 trials
  • Primary release disorder of platelets 0 trials
• Laminopathy 4 trials · 26 incl. sub-types
  14 sub-types

  • Familial partial lipodystrophy 13 trials · 14 incl. sub-types Sub-types →
  • Hutchinson-Gilford progeria syndrome 3 trials
  • Adult-onset autosomal dominant demyelinating leukodystrophy 3 trials Sub-types →
  • Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types Sub-types →
  • Greenberg dysplasia 2 trials
  • Charcot-Marie-Tooth disease type 2B1 1 trial
  • X-linked Emery-Dreifuss muscular dystrophy 1 trial Sub-types →
  • Buschke-Ollendorff syndrome 0 trials
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 trials
  • Pelger-Huet anomaly 0 trials
  • Atypical Werner syndrome 0 trials
  • Mandibuloacral dysplasia with type A lipodystrophy 0 trials
  • Mandibuloacral dysplasia with type B lipodystrophy 0 trials
  • Restrictive dermopathy 1 0 trials
• Hereditary hypoparathyroidism 0 trials · 26 incl. sub-types
  3 sub-types

  • Familial hypoparathyroidism 0 trials · 10 incl. sub-types Sub-types →
  • Pseudohypoparathyroidism 8 trials · 9 incl. sub-types Sub-types →
  • Autoimmune polyendocrine syndrome type 1 8 trials
• 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
  12 sub-types

  • Hypodontia/oligodontia with orofacial cleft 0 trials
  • Tooth agenesis, selective, 1 0 trials
  • Tooth agenesis, selective, 10 0 trials
  • Tooth agenesis, selective, 2 0 trials
  • Tooth agenesis, selective, 3 0 trials
  • Tooth agenesis, selective, 4 0 trials
  • Tooth agenesis, selective, 5 0 trials
  • Tooth agenesis, selective, 7 0 trials
  • Tooth agenesis, selective, 8 0 trials
  • Tooth agenesis, selective, 9 0 trials
  • Tooth agenesis, selective, X-linked, 1 0 trials
  • Tooth agenesis, selective, with orofacial cleft 0 trials
• Anterior segment dysgenesis 2 trials · 21 incl. sub-types
  8 sub-types

  • Congenital primary aphakia 17 trials
  • Iridogoniodysgenesis 0 trials · 2 incl. sub-types Sub-types →
  • Peters anomaly 1 trial Sub-types →
  • Anterior segment dysgenesis 1 1 trial
  • Anterior segment dysgenesis 6 1 trial
  • Anterior segment dysgenesis 7 0 trials
  • Anterior segment dysgenesis 8 0 trials
  • Isolated iridoschisis 0 trials
• Alveolar soft part sarcoma 20 trials
  2 sub-types

  • Cervical alveolar soft part sarcoma 0 trials
  • Vulvar alveolar soft part sarcoma 0 trials
• Pectus excavatum 20 trials
• Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types
  3 sub-types

  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 19 trials
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 trials Sub-types →
  • Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 0 trials
• Hereditary hypophosphatemic rickets 1 trial · 18 incl. sub-types
  4 sub-types

  • X-linked hypophosphatemic rickets 11 trials · 12 incl. sub-types Sub-types →
  • Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types Sub-types →
  • Hereditary hypophosphatemic rickets with hypercalciuria 1 trial
  • Autosomal dominant hypophosphatemic rickets 0 trials
• Familial clubfoot with or without associated lower limb anomalies 0 trials · 18 incl. sub-types
  2 sub-types

  • Clubfoot 18 trials Sub-types →
  • Familial clubfoot due to 17q23.1q23.2 microduplication 0 trials
• Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types
  11 sub-types

  • Chediak-Higashi syndrome 9 trials
  • Griscelli syndrome type 2 1 trial
  • Familial hemophagocytic lymphohistiocytosis 3 1 trial
  • Hermansky-Pudlak syndrome 2 0 trials
  • Hermansky-Pudlak syndrome 9 0 trials
  • Familial hemophagocytic lymphohistiocytosis 2 0 trials
  • Familial hemophagocytic lymphohistiocytosis 4 0 trials
  • Familial hemophagocytic lymphohistiocytosis 5 0 trials
  • Familial hemophagocytic lymphohistiocytosis type 1 0 trials
  • Hemophagocytic lymphohistiocytosis due to RhoG deficiency 0 trials
  • Hemophagocytic lymphohistiocytosis, familial, 6 0 trials
• Familial osteosclerosis 0 trials · 16 incl. sub-types
  3 sub-types

  • Osteopetrosis 6 trials · 14 incl. sub-types Sub-types →
  • Craniometaphyseal dysplasia 1 trial · 2 incl. sub-types Sub-types →
  • Axial osteomalacia 0 trials
• Familial nonmedullary thyroid carcinoma 3 trials · 15 incl. sub-types
  3 sub-types

  • Familial papillary or follicular thyroid carcinoma 1 trial · 13 incl. sub-types Sub-types →
  • Thyroid cancer, nonmedullary, 1 1 trial
  • Familial papillary thyroid carcinoma with renal papillary neoplasia 0 trials
• Arts syndrome 14 trials
• Klippel-Feil syndrome 14 trials
  6 sub-types

  • Calabro syndrome 0 trials
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 trials
  • Klippel-Feil syndrome 1, autosomal dominant 0 trials
  • Klippel-Feil syndrome 2, autosomal recessive 0 trials
  • Klippel-Feil syndrome 3, autosomal dominant 0 trials
  • Wildervanck syndrome 0 trials
• Cryptorchidism 14 trials
  1 sub-type

  • Arroyo Garcia Cimadevilla syndrome 0 trials
• Essential hypertension, genetic 14 trials
• Periodontitis, chronic, adult 14 trials
• Pregnancy loss, recurrent, 4 14 trials
• Visceral leishmaniasis 14 trials
• Chiari malformation 13 trials · 14 incl. sub-types
  4 sub-types

  • Chiari malformation type I 9 trials
  • Chiari malformation type II 2 trials
  • Chiari malformation type 3 0 trials
  • Chiari malformation type 4 0 trials
• Aorta coarctation 13 trials
  2 sub-types

  • Atypical coarctation of aorta 0 trials
  • Autosomal dominant coarctation of aorta 0 trials
• Familial spontaneous pneumothorax 13 trials
• Hereditary anemia 2 trials · 13 incl. sub-types
  14 sub-types

  • Vitamin B12- and folate-independent constitutional megaloblastic anemia 0 trials · 7 incl. sub-types Sub-types →
  • Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
  • Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
  • Atransferrinemia 1 trial
  • Hereditary intrinsic factor deficiency 1 trial Sub-types →
  • Transcobalamin II deficiency 1 trial
  • IRIDA syndrome 0 trials
  • Imerslund-Grasbeck syndrome 0 trials Sub-types →
  • Aceruloplasminemia 0 trials
  • Constitutional megaloblastic anemia with severe neurologic disease 0 trials
  • Formiminoglutamic aciduria 0 trials
  • Hereditary folate malabsorption 0 trials
  • Microcytic anemia with liver iron overload 0 trials
  • Severe congenital hypochromic anemia with ringed sideroblasts 0 trials
• Ovarian hyperstimulation syndrome 12 trials
• Pleomorphic adenoma 12 trials
• Familial thoracic aortic aneurysm and aortic dissection 11 trials · 12 incl. sub-types
  9 sub-types

  • Aortic aneurysm, familial thoracic 1 1 trial
  • Aortic aneurysm, familial thoracic 9 1 trial
  • Aortic aneurysm, familial thoracic 10 0 trials
  • Aortic aneurysm, familial thoracic 12 0 trials
  • Aortic aneurysm, familial thoracic 2 0 trials
  • Aortic aneurysm, familial thoracic 4 0 trials
  • Aortic aneurysm, familial thoracic 6 0 trials
  • Aortic aneurysm, familial thoracic 7 0 trials
  • Aortic aneurysm, familial thoracic 8 0 trials
• Spermatogenic failure 1 trial · 12 incl. sub-types
  113 sub-types

  • Spermatogenic failure 3 9 trials
  • Spermatogenic failure, Y-linked, 2 5 trials
  • Spermatogenic failure 34 1 trial
  • Spermatogenic failure 6 1 trial
  • X-linked spermatogenic failure 1 0 trials
  • Spermatogenic failure 1 0 trials
  • Spermatogenic failure 10 0 trials
  • Spermatogenic failure 100 0 trials
  • Spermatogenic failure 101 0 trials
  • Spermatogenic failure 102 0 trials
  • Spermatogenic failure 11 0 trials
  • Spermatogenic failure 12 0 trials
  • Spermatogenic failure 13 0 trials
  • Spermatogenic failure 14 0 trials
  • Spermatogenic failure 15 0 trials
  • Spermatogenic failure 16 0 trials
  • Spermatogenic failure 17 0 trials
  • Spermatogenic failure 18 0 trials
  • Spermatogenic failure 19 0 trials
  • Spermatogenic failure 2 0 trials
  • Spermatogenic failure 20 0 trials
  • Spermatogenic failure 21 0 trials
  • Spermatogenic failure 22 0 trials
  • Spermatogenic failure 23 0 trials
  • Spermatogenic failure 24 0 trials
  • Spermatogenic failure 25 0 trials
  • Spermatogenic failure 26 0 trials
  • Spermatogenic failure 27 0 trials
  • Spermatogenic failure 28 0 trials
  • Spermatogenic failure 29 0 trials
  • Spermatogenic failure 30 0 trials
  • Spermatogenic failure 31 0 trials
  • Spermatogenic failure 32 0 trials
  • Spermatogenic failure 33 0 trials
  • Spermatogenic failure 35 0 trials
  • Spermatogenic failure 36 0 trials
  • Spermatogenic failure 37 0 trials
  • Spermatogenic failure 38 0 trials
  • Spermatogenic failure 39 0 trials
  • Spermatogenic failure 4 0 trials
  • Spermatogenic failure 40 0 trials
  • Spermatogenic failure 41 0 trials
  • Spermatogenic failure 42 0 trials
  • Spermatogenic failure 43 0 trials
  • Spermatogenic failure 44 0 trials
  • Spermatogenic failure 45 0 trials
  • Spermatogenic failure 46 0 trials
  • Spermatogenic failure 47 0 trials
  • Spermatogenic failure 48 0 trials
  • Spermatogenic failure 49 0 trials
  • Spermatogenic failure 5 0 trials
  • Spermatogenic failure 50 0 trials
  • Spermatogenic failure 51 0 trials
  • Spermatogenic failure 52 0 trials
  • Spermatogenic failure 53 0 trials
  • Spermatogenic failure 54 0 trials
  • Spermatogenic failure 55 0 trials
  • Spermatogenic failure 56 0 trials
  • Spermatogenic failure 57 0 trials
  • Spermatogenic failure 58 0 trials
  • Spermatogenic failure 59 0 trials
  • Spermatogenic failure 60 0 trials
  • Spermatogenic failure 61 0 trials
  • Spermatogenic failure 62 0 trials
  • Spermatogenic failure 63 0 trials
  • Spermatogenic failure 64 0 trials
  • Spermatogenic failure 65 0 trials
  • Spermatogenic failure 66 0 trials
  • Spermatogenic failure 67 0 trials
  • Spermatogenic failure 68 0 trials
  • Spermatogenic failure 69 0 trials
  • Spermatogenic failure 7 0 trials
  • Spermatogenic failure 70 0 trials
  • Spermatogenic failure 71 0 trials
  • Spermatogenic failure 72 0 trials
  • Spermatogenic failure 73 0 trials
  • Spermatogenic failure 74 0 trials
  • Spermatogenic failure 75 0 trials
  • Spermatogenic failure 76 0 trials
  • Spermatogenic failure 77 0 trials
  • Spermatogenic failure 78 0 trials
  • Spermatogenic failure 79 0 trials
  • Spermatogenic failure 8 0 trials
  • Spermatogenic failure 80 0 trials
  • Spermatogenic failure 81 0 trials
  • Spermatogenic failure 82 0 trials
  • Spermatogenic failure 83 0 trials
  • Spermatogenic failure 84 0 trials
  • Spermatogenic failure 85 0 trials
  • Spermatogenic failure 86 0 trials
  • Spermatogenic failure 87 0 trials
  • Spermatogenic failure 88 0 trials
  • Spermatogenic failure 89 0 trials
  • Spermatogenic failure 9 0 trials
  • Spermatogenic failure 90 0 trials
  • Spermatogenic failure 91 0 trials
  • Spermatogenic failure 92 0 trials
  • Spermatogenic failure 93 0 trials
  • Spermatogenic failure 94 0 trials
  • Spermatogenic failure 95 0 trials
  • Spermatogenic failure 96 0 trials
  • Spermatogenic failure 97 0 trials
  • Spermatogenic failure 98 0 trials
  • Spermatogenic failure 99 0 trials
  • Spermatogenic failure, X-linked, 2 0 trials
  • Spermatogenic failure, X-linked, 3 0 trials
  • Spermatogenic failure, X-linked, 4 0 trials
  • Spermatogenic failure, X-linked, 5 0 trials
  • Spermatogenic failure, X-linked, 6 0 trials
  • Spermatogenic failure, X-linked, 7 0 trials
  • Spermatogenic failure, X-linked, 8 0 trials
  • Spermatogenic failure, X-linked, 9 0 trials
  • Spermatogenic failure, Y-linked, 1 0 trials
• SMAD6-related disease 0 trials · 12 incl. sub-types
  3 sub-types

  • Aortic valve disease 2 12 trials
  • Craniosynostosis 7 0 trials
  • Radioulnar synostosis, nonsyndromic, susceptibility to 0 trials
• CGF1 11 trials
• Ankyloglossia 11 trials
• Parasomnia, sleep bruxism type 11 trials
• Tardive dyskinesia 11 trials
• Thyroid Hurthle cell carcinoma 11 trials
• Trichotillomania 11 trials
• Heritable pulmonary arterial hypertension 10 trials · 11 incl. sub-types
  7 sub-types

  • Pulmonary hypertension, primary, 2 1 trial
  • Pulmonary hypertension, primary, 3 1 trial
  • Pulmonary hypertension, primary, 4 1 trial
  • Pulmonary hypertension, primary, 1 0 trials
  • Pulmonary hypertension, primary, 5 0 trials
  • Pulmonary hypertension, primary, 6 0 trials
  • Pulmonary hypertension, primary, 7 0 trials
• CDKL5 disorder 8 trials · 11 incl. sub-types
  1 sub-type

  • Developmental and epileptic encephalopathy, 2 10 trials
• Inherited interstitial lung disease 5 trials · 11 incl. sub-types
  13 sub-types

  • Interstitial lung disease 2 2 trials
  • Hermansky-Pudlak syndrome with pulmonary fibrosis 0 trials · 1 incl. sub-types Sub-types →
  • Niemann-Pick disease type B 1 trial
  • Rajab interstitial lung disease with brain calcifications 0 trials · 1 incl. sub-types Sub-types →
  • Familial hypocalciuric hypercalcemia 0 trials · 1 incl. sub-types Sub-types →
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related 1 trial Sub-types →
  • Lane Hamilton syndrome 0 trials
  • SFTPC-related interstitial lung disease 0 trials
  • Alveolar capillary dysplasia with misalignment of pulmonary veins 0 trials
  • Hypersensitivity pneumonitis, familial 0 trials
  • Interstitial lung disease 1 0 trials
  • Interstitial lung disease due to ABCA3 deficiency 0 trials
  • Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 0 trials
• Progeroid syndrome 3 trials · 11 incl. sub-types
  16 sub-types

  • Cockayne syndrome 6 trials Sub-types →
  • Hutchinson-Gilford progeria syndrome 3 trials
  • Werner syndrome 2 trials
  • Fischer-Zirnsak progeroid syndrome 0 trials
  • Fontaine progeroid syndrome 0 trials
  • Garg-Mishra progeroid syndrome 0 trials
  • Marbach-Rustad progeroid syndrome 0 trials
  • Nestor-Guillermo progeria syndrome 0 trials
  • RECON progeroid syndrome 0 trials
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • XFE progeroid syndrome 0 trials
  • Achalasia-progeroid syndrome 0 trials
  • Mandibular hypoplasia-deafness-progeroid syndrome 0 trials
  • Mandibuloacral dysplasia progeroid syndrome 0 trials
  • Progeroid and marfanoid aspect-lipodystrophy syndrome 0 trials
  • Progeroid facial appearance with hand anomalies 0 trials
• Familial long QT syndrome 1 trial · 11 incl. sub-types
  19 sub-types

  • Long QT syndrome 3 6 trials
  • Long QT syndrome 2 3 trials
  • Jervell and Lange-Nielsen syndrome 2 trials Sub-types →
  • Timothy syndrome 1 trial Sub-types →
  • Long QT syndrome 1 1 trial
  • Long QT syndrome 5 0 trials · 1 incl. sub-types Sub-types →
  • Andersen-Tawil syndrome 0 trials
  • Cardiac arrhythmia, ankyrin-B-related 0 trials
  • Long QT syndrome 10 0 trials
  • Long QT syndrome 11 0 trials
  • Long QT syndrome 12 0 trials
  • Long QT syndrome 13 0 trials
  • Long QT syndrome 14 0 trials
  • Long QT syndrome 15 0 trials
  • Long QT syndrome 16 0 trials
  • Long QT syndrome 4 0 trials
  • Long QT syndrome 6 0 trials
  • Long QT syndrome 8 0 trials
  • Long QT syndrome 9 0 trials
• Syndromic microphthalmia 0 trials · 11 incl. sub-types
  19 sub-types

  • Matthew-Wood syndrome 5 trials
  • Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
  • COFS syndrome 1 trial Sub-types →
  • MMEP syndrome 1 trial
  • Behrens Baumann dust syndrome 0 trials
  • RAB18 deficiency 0 trials Sub-types →
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 trials
  • Linear skin defects with multiple congenital anomalies 0 trials Sub-types →
  • Microphthalmia microtia fetal akinesia 0 trials
  • Microphthalmia with brain and digit anomalies 0 trials
  • Microphthalmia, Lenz type 0 trials
  • Microphthalmia, syndromic 1 0 trials
  • Microphthalmia, syndromic 11 0 trials
  • Microphthalmia, syndromic 12 0 trials
  • Microphthalmia, syndromic 2 0 trials
  • Microphthalmia-brain atrophy syndrome 0 trials
  • Oculoauricular syndrome 0 trials
  • Syndromic microphthalmia type 5 0 trials
• Phelan-McDermid syndrome 10 trials
  2 sub-types

  • Phelan-McDermid syndrome due to SHANK3 mutation 3 trials
  • Phelan-McDermid syndrome due to 22q13.3 deletion 0 trials
• Raynaud disease 10 trials
• Arthritis, sacroiliac 10 trials
• Bile duct cyst 10 trials
• Fibrodysplasia ossificans progressiva 10 trials
• Hereditary breast carcinoma 10 trials
  1 sub-type

  • CTNNA1-related diffuse gastric and lobular breast cancer syndrome 0 trials
• Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
• Multinodular goiter 10 trials
  3 sub-types

  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 1 trial
  • Goiter, multinodular 2 0 trials
  • Goiter, multinodular 3 0 trials
• Myostatin-related muscle hypertrophy 10 trials
• Central precocious puberty 9 trials · 10 incl. sub-types
  7 sub-types

  • Idiopathic central precocious puberty 1 trial
  • Central precocious puberty 1 0 trials
  • Central precocious puberty in male 0 trials Sub-types →
  • Genetic central precocious puberty in female 0 trials
  • Precocious puberty, central, 2 0 trials
  • Secondary central precocious puberty 0 trials
  • Secondary central precocious puberty in female 0 trials
• Erythromelalgia 3 trials · 10 incl. sub-types
  2 sub-types

  • Primary erythermalgia 8 trials
  • Secondary erythromelalgia 0 trials
• IgE responsiveness, atopic 9 trials
• Familial pancreatic carcinoma 9 trials
• Immunodeficiency 32B 9 trials
• Impacted teeth, multiple 9 trials
• Neuropathy, painful 9 trials
• Obesity-hypoventilation syndrome 9 trials
• Peripheral arterial occlusive disease 1 9 trials
• Inherited obesity 8 trials · 9 incl. sub-types
  7 sub-types

  • Obesity due to pro-opiomelanocortin deficiency 2 trials
  • Obesity due to congenital leptin deficiency 1 trial
  • Obesity due to leptin receptor gene deficiency 1 trial
  • Obesity due to prohormone convertase I deficiency 1 trial
  • Obesity due to CEP19 deficiency 0 trials
  • Obesity due to SIM1 deficiency 0 trials
  • Obesity due to melanocortin 4 receptor deficiency 0 trials
• Syndactyly 3 trials · 9 incl. sub-types
  2 sub-types

  • Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types Sub-types →
  • Non-syndromic syndactyly 0 trials Sub-types →
• Polydactyly 2 trials · 9 incl. sub-types
  2 sub-types

  • Polydactyly-syndactyly-triphalangism 0 trials · 6 incl. sub-types Sub-types →
  • Non-syndromic polydactyly 0 trials · 1 incl. sub-types Sub-types →
• Central centrifugal cicatricial alopecia 8 trials
• Hyperhidrosis palmaris ET plantaris 8 trials
• Lower urinary tract obstruction, congenital 8 trials
• Masticatory muscles, hypertrophy of 8 trials
• Van der Woude syndrome 8 trials
  2 sub-types

  • Van der Woude syndrome 1 0 trials
  • Van der Woude syndrome 2 0 trials
• Severe congenital neutropenia 5 trials · 8 incl. sub-types
  8 sub-types

  • Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types Sub-types →
  • Neutropenia, severe congenital, 8, autosomal dominant 1 trial
  • X-linked severe congenital neutropenia 0 trials
  • Autosomal dominant severe congenital neutropenia 0 trials Sub-types →
  • Neutropenia, severe congenital, 10, autosomal recessive 0 trials
  • Neutropenia, severe congenital, 11, autosomal dominant 0 trials
  • Neutropenia, severe congenital, 12, autosomal recessive 0 trials
  • Neutropenia, severe congenital, 9, autosomal dominant 0 trials
• Spondylocostal dysostosis 5 trials · 8 incl. sub-types
  4 sub-types

  • Spondylocostal dysostosis 5 3 trials
  • Autosomal dominant spondylocostal dysostosis 0 trials
  • Autosomal recessive spondylocostal dysostosis 0 trials Sub-types →
  • Spondylocostal dysostosis 7, autosomal recessive 0 trials
• Familial ovarian cancer 1 trial · 8 incl. sub-types
  2 sub-types

  • Familial ovarian carcinoma 5 trials
  • Hereditary site-specific ovarian cancer syndrome 2 trials
• Silver-Russell syndrome 7 trials
  11 sub-types

  • Russell-silver syndrome, X-linked 0 trials
  • Silver-Russell syndrome 1 0 trials
  • Silver-Russell syndrome 3 0 trials
  • Silver-Russell syndrome 5 0 trials
  • Silver-Russell syndrome due to 11p15 microduplication 0 trials
  • Silver-Russell syndrome due to 7p11.2p13 microduplication 0 trials
  • Silver-Russell syndrome due to an imprinting defect of 11p15 0 trials
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
  • Silver-russell syndrome 2 0 trials
  • Silver-russell syndrome 4 0 trials
• Arterial calcification of infancy 7 trials
  2 sub-types

  • Arterial calcification, generalized, of infancy, 2 3 trials
  • Arterial calcification, generalized, of infancy, 1 2 trials
• Extraskeletal myxoid chondrosarcoma 7 trials
  1 sub-type

  • Intracranial extraskeletal myxoid chondrosarcoma 0 trials
• Malposition of teeth with or without hypodontia/oligodontia 7 trials
• Protein-losing enteropathy 7 trials
• Spermatic cord torsion 7 trials
• Febrile seizures, familial 4 trials · 7 incl. sub-types
  13 sub-types

  • Generalized epilepsy with febrile seizures plus, type 2 3 trials
  • Familial febrile seizures 9 0 trials
  • Febrile seizures, familial, 1 0 trials
  • Febrile seizures, familial, 10 0 trials
  • Febrile seizures, familial, 11 0 trials
  • Febrile seizures, familial, 2 0 trials
  • Febrile seizures, familial, 3a 0 trials
  • Febrile seizures, familial, 3b 0 trials
  • Febrile seizures, familial, 4 0 trials
  • Febrile seizures, familial, 5 0 trials
  • Febrile seizures, familial, 6 0 trials
  • Febrile seizures, familial, 7 0 trials
  • Febrile seizures, familial, 8 0 trials
• Amelogenesis imperfecta 3 trials · 7 incl. sub-types
  7 sub-types

  • Hypocalcified amelogenesis imperfecta 0 trials · 3 incl. sub-types Sub-types →
  • Amelogenesis imperfecta type 1G 1 trial
  • X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 0 trials
  • Amelogenesis imperfecta type 1 0 trials Sub-types →
  • Amelogenesis imperfecta type 2 0 trials Sub-types →
  • Amelogenesis imperfecta, IIa 1K 0 trials
  • Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 0 trials
• Inherited sideroblastic anemia 2 trials · 7 incl. sub-types
  8 sub-types

  • Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
  • Autosomal recessive sideroblastic anemia 2 trials Sub-types →
  • X-linked sideroblastic anemia 1 0 trials
  • X-linked sideroblastic anemia with ataxia 0 trials
  • Anemia, sideroblastic, 5 0 trials
  • Autosomal dominant sideroblastic anemia 0 trials
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 trials
  • Severe congenital hypochromic anemia with ringed sideroblasts 0 trials
• 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
  5 sub-types

  • Fibromuscular dysplasia of the arteries of the extremities 0 trials
  • Fibromuscular dysplasia of the cervical and intracranial arteries 0 trials
  • Fibromuscular dysplasia of the coronary arteries 0 trials
  • Fibromuscular dysplasia of the renal arteries 0 trials
  • Fibromuscular dysplasia of the visceral arteries 0 trials
• Hereditary chronic pancreatitis 6 trials
  2 sub-types

  • Autosomal recessive hereditary chronic pancreatitis 0 trials
  • Tropical pancreatitis 0 trials
• Laryngeal adductor paralysis 6 trials
• Sclerosteosis 6 trials
  2 sub-types

  • Sclerosteosis 1 0 trials
  • Sclerosteosis 2 0 trials
• Uterine anomalies 6 trials
• Hypotrichosis 5 trials · 6 incl. sub-types
  19 sub-types

  • Hypotrichosis of eyelid 2 trials
  • Basaran Yilmaz syndrome 0 trials
  • Marie Unna hereditary hypotrichosis 0 trials Sub-types →
  • Congenital hypotrichosis milia 0 trials
  • Congenital hypotrichosis with juvenile macular dystrophy 0 trials
  • Hypotrichosis 1 0 trials
  • Hypotrichosis 10 0 trials
  • Hypotrichosis 11 0 trials
  • Hypotrichosis 12 0 trials
  • Hypotrichosis 13 0 trials
  • Hypotrichosis 14 0 trials
  • Hypotrichosis 15 0 trials
  • Hypotrichosis 16 0 trials
  • Hypotrichosis 2 0 trials
  • Hypotrichosis 3 0 trials
  • Hypotrichosis 6 0 trials
  • Hypotrichosis 7 0 trials
  • Hypotrichosis 8 0 trials
  • Hypotrichosis 9 0 trials
• Periodontitis, aggressive 4 trials · 6 incl. sub-types
  2 sub-types

  • Periodontitis, aggressive 1 6 trials
  • Periodontitis, aggressive, 2 0 trials
• Hereditary pulmonary alveolar proteinosis 3 trials · 6 incl. sub-types
  8 sub-types

  • Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 3 trials
  • SFTPC-related interstitial lung disease 0 trials
  • Chronic respiratory distress with surfactant metabolism deficiency 0 trials
  • Interstitial lung disease due to ABCA3 deficiency 0 trials
  • Surfactant metabolism dysfunction, pulmonary, 1 0 trials
  • Surfactant metabolism dysfunction, pulmonary, 2 0 trials
  • Surfactant metabolism dysfunction, pulmonary, 4 0 trials
  • Surfactant metabolism dysfunction, pulmonary, 5 0 trials
• DICER1-related tumor predisposition 1 trial · 6 incl. sub-types
  2 sub-types

  • Pleuropulmonary blastoma 4 trials Sub-types →
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 1 trial
• Hereditary gastric cancer 1 trial · 6 incl. sub-types
  4 sub-types

  • Hereditary diffuse gastric adenocarcinoma 4 trials
  • Gastric mucosa-associated lymphoid tissue lymphoma 2 trials
  • Gastric adenocarcinoma and proximal polyposis of the stomach 1 trial
  • CTNNA1-related diffuse gastric and lobular breast cancer syndrome 0 trials
• Leukoencephalopathy, hereditary diffuse, with spheroids 1 trial · 6 incl. sub-types
  2 sub-types

  • Leukoencephalopathy, diffuse hereditary, with spheroids 1 6 trials
  • Leukoencephalopathy, hereditary diffuse, with spheroids 2 0 trials
• CSF1R-related disorder 0 trials · 6 incl. sub-types
  2 sub-types

  • Leukoencephalopathy, diffuse hereditary, with spheroids 1 6 trials
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 trials
• Primary failure of tooth eruption 5 trials
• Progesterone resistance 5 trials
• Pulmonic stenosis 5 trials
• Cornelia de Lange syndrome 4 trials · 5 incl. sub-types
  6 sub-types

  • Cornelia de Lange syndrome 1 1 trial
  • Cornelia de Lange syndrome 2 0 trials
  • Cornelia de Lange syndrome 3 0 trials
  • Cornelia de Lange syndrome 4 0 trials
  • Cornelia de Lange syndrome 5 0 trials
  • Cornelia de Lange syndrome 6 0 trials
• Hydatidiform mole 3 trials · 5 incl. sub-types
  5 sub-types

  • Complete hydatidiform mole 1 trial · 2 incl. sub-types Sub-types →
  • Hydatidiform mole, recurrent, 3 0 trials
  • Hydatidiform mole, recurrent, 4 0 trials
  • Invasive hydatidiform mole 0 trials
  • Partial hydatidiform mole 0 trials
• COL4A1/A2-related disorder 2 trials · 5 incl. sub-types
  3 sub-types

  • COL4A1-related disorder 1 trial · 4 incl. sub-types Sub-types →
  • Brain small vessel disease 2A, autosomal dominant 1 trial
  • Hemorrhage, intracerebral, susceptibility to 1 trial
• Hereditary Wilms tumor 1 trial · 5 incl. sub-types
  7 sub-types

  • Wilms tumor 1 4 trials
  • Wilms tumor 2 0 trials
  • Wilms tumor 3 0 trials
  • Wilms tumor 4 0 trials
  • Wilms tumor 5 0 trials
  • Wilms tumor 6 0 trials
  • Wilms tumor 7 0 trials
• Central hypoventilation syndrome, congenital 0 trials · 5 incl. sub-types
  3 sub-types

  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
  • Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 0 trials
  • Central hypoventilation syndrome, congenital, 3 0 trials
• Congenital diarrhea 0 trials · 5 incl. sub-types
  12 sub-types

  • Congenital secretory diarrhea 0 trials · 5 incl. sub-types Sub-types →
  • Congenital diarrhea 6 0 trials
  • Congenital diarrhea 7 with exudative enteropathy 0 trials
  • Congenital malabsorptive diarrhea 4 0 trials
  • Congenital sodium diarrhea 0 trials Sub-types →
  • Diarrhea 10, protein-losing enteropathy type 0 trials
  • Diarrhea 11, malabsorptive, congenital 0 trials
  • Diarrhea 12, with microvillus atrophy 0 trials
  • Diarrhea 13 0 trials
  • Diarrhea 14, congenital 0 trials
  • Diarrhea 15, congenital 0 trials
  • Diarrhea 9 0 trials
• Hereditary narcolepsy 0 trials · 5 incl. sub-types
  3 sub-types

  • Narcolepsy 1 5 trials
  • Narcolepsy 3 0 trials
  • Narcolepsy 7 0 trials
• Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types
  1 sub-type

  • Craniofacial microsomia 5 trials Sub-types →
• WHIM syndrome 4 trials
  2 sub-types

  • WHIM syndrome 1 4 trials
  • WHIM syndrome 2 0 trials
• 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
  3 sub-types

  • Fetomaternal alloimmune thrombocytopenia 1 0 trials
  • Fetomaternal alloimmune thrombocytopenia 2 0 trials
  • Fetomaternal alloimmune thrombocytopenia 3 0 trials
• 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
• Pulmonary atresia-intact ventricular septum syndrome 4 trials
• Urinary bladder, atony of 4 trials
• Volvulus of midgut 4 trials
  1 sub-type

  • Familial intestinal malrotation-facial anomalies syndrome 0 trials
• CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 3 trials · 4 incl. sub-types
  2 sub-types

  • Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
  • Exudative vitreoretinopathy 7 0 trials
• Prostate cancer, hereditary 1 trial · 4 incl. sub-types
  18 sub-types

  • Prostate cancer, hereditary, 7 3 trials
  • Familial prostate carcinoma 0 trials
  • Prostate cancer, hereditary, 1 0 trials
  • Prostate cancer, hereditary, 10 0 trials
  • Prostate cancer, hereditary, 11 0 trials
  • Prostate cancer, hereditary, 12 0 trials
  • Prostate cancer, hereditary, 13 0 trials
  • Prostate cancer, hereditary, 14 0 trials
  • Prostate cancer, hereditary, 15 0 trials
  • Prostate cancer, hereditary, 2 0 trials
  • Prostate cancer, hereditary, 3 0 trials
  • Prostate cancer, hereditary, 4 0 trials
  • Prostate cancer, hereditary, 5 0 trials
  • Prostate cancer, hereditary, 6 0 trials
  • Prostate cancer, hereditary, 8 0 trials
  • Prostate cancer, hereditary, 9 0 trials
  • Prostate cancer, hereditary, X-linked 1 0 trials
  • Prostate cancer, hereditary, X-linked 2 0 trials
• 7q11.23 microduplication syndrome 3 trials
  1 sub-type

  • Distal 7q11.23 microduplication syndrome 0 trials
• Cushing syndrome due to macronodular adrenal hyperplasia 3 trials
  3 sub-types

  • ACTH-independent macronodular adrenal hyperplasia 1 0 trials
  • ACTH-independent macronodular adrenal hyperplasia 2 0 trials
  • ACTH-independent macronodular adrenal hyperplasia 3 0 trials
• Protrusio acetabuli 3 trials
• Capillary malformation-arteriovenous malformation syndrome 3 trials
  2 sub-types

  • Capillary malformation-arteriovenous malformation 1 0 trials
  • Capillary malformation-arteriovenous malformation 2 0 trials
• Delayed puberty, self-limited 3 trials
• Ear malformation 3 trials
  1 sub-type

  • Auriculocondylar syndrome 0 trials Sub-types →
• Fibrinolytic defect 3 trials
• Genu valgum, st. Helena familial 3 trials
• Hematuria, benign familial 3 trials
  2 sub-types

  • Hematuria, benign familial, 1 3 trials
  • Hematuria, benign familial, 2 0 trials
• Patella, familial recurrent dislocation of 3 trials
• Pigment dispersion syndrome 3 trials
• Popliteal cyst 3 trials
• Portal hypertension, noncirrhotic 3 trials
  2 sub-types

  • Portal hypertension, noncirrhotic, 1 0 trials
  • Portal hypertension, noncirrhotic, 2 0 trials
• 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
• Epithelial-stromal TGFBI dystrophy 1 trial · 3 incl. sub-types
  8 sub-types

  • Epithelial basement membrane dystrophy 2 trials
  • Thiel-Behnke corneal dystrophy 1 trial
  • Reis-Bucklers corneal dystrophy 0 trials
  • Corneal dystrophy, lattice type 3A 0 trials
  • Corneal granular dystrophy 0 trials
  • Granular corneal dystrophy type I 0 trials
  • Granular corneal dystrophy type II 0 trials
  • Lattice corneal dystrophy type I 0 trials
• AP-4 deficiency syndrome 0 trials · 3 incl. sub-types
  4 sub-types

  • Hereditary spastic paraplegia 50 3 trials
  • Hereditary spastic paraplegia 47 1 trial
  • Hereditary spastic paraplegia 51 1 trial
  • Hereditary spastic paraplegia 52 1 trial
• Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types
  2 sub-types

  • Pitt-Hopkins syndrome 3 trials
  • Pitt-Hopkins-like syndrome 0 trials Sub-types →
• Distal arthrogryposis 0 trials · 3 incl. sub-types
  23 sub-types

  • Freeman-Sheldon syndrome 1 trial Sub-types →
  • Congenital contractural arachnodactyly 1 trial
  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 trial
  • ACTC1-related distal arthrogryposis with congenital heart disease 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • Gordon syndrome 0 trials
  • Sheldon-hall syndrome 0 trials Sub-types →
  • Arthrogryposis, distal, IIa 11 0 trials
  • Arthrogryposis, distal, type 12 0 trials
  • Arthrogryposis, distal, type 1C 0 trials
  • Arthrogryposis, distal, type 2B4 0 trials
  • Arthrogryposis, distal, type 2E 0 trials
  • Arthrogryposis, distal, with impaired proprioception and touch 0 trials
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 trials
  • Arthrogryposis-ectodermal dysplasia-other anomalies syndrome 0 trials
  • Arthrogryposis-like hand anomaly-sensorineural deafness syndrome 0 trials
  • Arthrogryposis-severe scoliosis syndrome 0 trials
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 trials
  • Digitotalar dysmorphism 0 trials Sub-types →
  • Distal arthrogryposis Moore weaver type 0 trials
  • Distal arthrogryposis type 10 0 trials
  • Distal arthrogryposis type 5D 0 trials
  • Trismus-pseudocamptodactyly syndrome 0 trials
• Lethal congenital contracture syndrome 0 trials · 3 incl. sub-types
  11 sub-types

  • Lethal congenital contracture syndrome 2 3 trials
  • NEK9-related lethal skeletal dysplasia 0 trials
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome 0 trials
  • Lethal congenital contracture syndrome 1 0 trials
  • Lethal congenital contracture syndrome 11 0 trials
  • Lethal congenital contracture syndrome 3 0 trials
  • Lethal congenital contracture syndrome 4 0 trials
  • Lethal congenital contracture syndrome 6 0 trials
  • Lethal congenital contracture syndrome 7 0 trials
  • Lethal congenital contracture syndrome 8 0 trials
  • Lethal congenital contracture syndrome 9 0 trials
• Achoo syndrome 2 trials
• Kabuki syndrome 2 trials
  2 sub-types

  • Kabuki syndrome 1 0 trials
  • Kabuki syndrome 2 0 trials
• Kasabach-Merritt syndrome 2 trials
• Pseudofolliculitis barbae 2 trials
• Young syndrome 2 trials
• Alcohol sensitivity, acute 2 trials
• Anisomastia 2 trials
• Arthropathy, erosive 2 trials
• Atrichia with papular lesions 2 trials
• Bone Paget disease 2 trials
  5 sub-types

  • Paget disease of bone 2, early-onset 0 trials
  • Paget disease of bone 3 0 trials
  • Paget disease of bone 6 0 trials
  • Juvenile Paget disease 0 trials
  • Paget disease of bone 4 0 trials
• Breath-holding Spells 2 trials
• Capillary infantile hemangioma 2 trials
• Cardiac valvular defect 2 trials
  2 sub-types

  • Cardiac valvular defect, developmental 0 trials
  • Cardiac valvular dysplasia 2 0 trials
• Celiac trunk compression syndrome 2 trials
• Congenital hereditary endothelial dystrophy of cornea 2 trials
• Cystic disease of lung 2 trials
• Dementia/parkinsonism with non-Alzheimer amyloid plaques 2 trials
• Expansile bone lesions 2 trials
• Familial thrombocytosis 2 trials
  3 sub-types

  • Thrombocythemia 1 0 trials
  • Thrombocythemia 2 0 trials
  • Thrombocythemia 3 0 trials
• Grouped pigmentation of the retina 2 trials
• Histiocytoma, Angiomatoid fibrous 2 trials
• Inosine triphosphatase deficiency 2 trials
• Insect Stings, hypersensitivity to 2 trials
• Insulin-resistance syndrome type A 2 trials
• Intussusception 2 trials
• Juvenile arthritis due to defect in LACC1 2 trials
• Kyphoscoliosis 1 2 trials
• Multisystemic smooth muscle dysfunction syndrome 2 trials
  2 sub-types

  • Moyamoya disease 5 0 trials
  • Aortic aneurysm, familial thoracic 6 0 trials
• 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
  5 sub-types

  • Pigmented nodular adrenocortical disease, primary, 1 1 trial
  • Isolated primary pigmented nodular adrenocortical disease 0 trials
  • Pigmented nodular adrenocortical disease, primary, 2 0 trials
  • Pigmented nodular adrenocortical disease, primary, 3 0 trials
  • Pigmented nodular adrenocortical disease, primary, 4 0 trials
• Ragweed sensitivity 2 trials
• Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
• Teeth, supernumerary 2 trials
• Androgen insensitivity syndrome 1 trial · 2 incl. sub-types
  2 sub-types

  • Partial androgen insensitivity syndrome 2 trials
  • Complete androgen insensitivity syndrome 0 trials
• Arthrogryposis multiplex congenita 1 trial · 2 incl. sub-types
  24 sub-types

  • Arthrogryposis multiplex congenita 2, neurogenic type 0 trials · 1 incl. sub-types Sub-types →
  • MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 0 trials
  • Marden-Walker syndrome 0 trials
  • Wieacker-Wolff syndrome (spectrum) 0 trials Sub-types →
  • Adducted thumbs-arthrogryposis syndrome, Christian type 0 trials
  • Arthrogryposis due to muscular dystrophy 0 trials
  • Arthrogryposis multiplex congenita 3, myogenic type 0 trials
  • Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 trials
  • Arthrogryposis multiplex congenita 5 0 trials
  • Arthrogryposis multiplex congenita 6 0 trials
  • Arthrogryposis multiplex congenita 7, X-linked 0 trials
  • Arthrogryposis multiplex congenita-whistling face syndrome 0 trials
  • Arthrogryposis-hyperkeratosis syndrome, lethal form 0 trials
  • Arthrogryposis-like syndrome 0 trials
  • Autosomal recessive myogenic arthrogryposis multiplex congenita 0 trials
  • Fetal akinesia deformation sequence 0 trials Sub-types →
  • Hypomyelination neuropathy-arthrogryposis syndrome 0 trials Sub-types →
  • Infantile-onset X-linked spinal muscular atrophy 0 trials
  • Lethal arthrogryposis-anterior horn cell disease syndrome 0 trials
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
  • Microphthalmia microtia fetal akinesia 0 trials
  • Multiple pterygium-malignant hyperthermia syndrome 0 trials
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures 0 trials Sub-types →
  • Van den Ende-Gupta syndrome 0 trials
• Congenital pseudoarthrosis of the limbs 1 trial · 2 incl. sub-types
  5 sub-types

  • Congenital pseudoarthrosis of the tibia 1 trial
  • Congenital pseudoarthrosis of the femur 0 trials
  • Congenital pseudoarthrosis of the fibula 0 trials
  • Congenital pseudoarthrosis of the radius 0 trials
  • Congenital pseudoarthrosis of the ulna 0 trials
• Dyskinesia with orofacial involvement 1 trial · 2 incl. sub-types
  2 sub-types

  • Dyskinesia with orofacial involvement, autosomal dominant 2 trials
  • Dyskinesia with orofacial involvement, autosomal recessive 0 trials
• POLR3A-related disorder 0 trials · 2 incl. sub-types
  2 sub-types

  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2 trials Sub-types →
  • Wiedemann-Rautenstrauch syndrome 0 trials
• Autoimmune disease, multisystem, infantile-onset 0 trials · 2 incl. sub-types
  4 sub-types

  • STAT3-related early-onset multisystem autoimmune disease 2 trials
  • Autoimmune disease, multisystem, infantile-onset, 2 0 trials
  • Autoimmune disease, multisystem, infantile-onset, 3 0 trials
  • Autoimmune disease, multisystem, infantile-onset, 5 0 trials
• Cornea plana 0 trials · 2 incl. sub-types
  2 sub-types

  • Cornea plana 1, autosomal dominant 2 trials
  • Cornea plana 2 0 trials
• Familial abdominal aortic aneurysm 0 trials · 2 incl. sub-types
  4 sub-types

  • Aortic aneurysm, familial abdominal, 1 2 trials
  • Aortic aneurysm, familial abdominal, 2 0 trials
  • Aortic aneurysm, familial abdominal, 3 0 trials
  • Aortic aneurysm, familial abdominal, 4 0 trials
• Familial hyperaldosteronism 0 trials · 2 incl. sub-types
  5 sub-types

  • Aldosterone-producing adenoma with seizures and neurological abnormalities 1 trial
  • Glucocorticoid-remediable aldosteronism 1 trial
  • Familial hyperaldosteronism type II 0 trials
  • Familial hyperaldosteronism type III 0 trials
  • Hyperaldosteronism, familial, type IV 0 trials
• Hereditary gingival fibromatosis 0 trials · 2 incl. sub-types
  6 sub-types

  • Fibromatosis, gingival, 2 2 trials
  • Fibromatosis, gingival, 1 0 trials
  • Fibromatosis, gingival, 3 0 trials
  • Fibromatosis, gingival, 4 0 trials
  • Fibromatosis, gingival, 5 0 trials
  • Fibromatosis, gingival, 6 0 trials
• Inherited cutis laxa 0 trials · 2 incl. sub-types
  14 sub-types

  • Arterial tortuosity syndrome 1 trial
  • Autosomal recessive cutis laxa type 1 1 trial Sub-types →
  • Occipital horn syndrome 1 trial
  • ALDH18A1-related de Barsy syndrome 0 trials
  • PYCR1-related de Barsy syndrome 0 trials
  • RIN2 syndrome 0 trials
  • Arterial tortuosity-bone fragility syndrome 0 trials
  • Autosomal dominant cutis laxa 0 trials Sub-types →
  • Autosomal recessive cutis laxa type 2 0 trials Sub-types →
  • Autosomal recessive cutis laxa type 2, classic type 0 trials
  • Craniofaciofrontodigital syndrome 0 trials
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 trials
  • Cutis laxa, autosomal recessive, type 2E 0 trials
  • Geroderma osteodysplastica 0 trials
• Islet cell adenomatosis 0 trials · 2 incl. sub-types
  1 sub-type

  • Congenital isolated hyperinsulinism 0 trials · 2 incl. sub-types Sub-types →
• 17q11.2 microduplication syndrome 1 trial
• A20 haploinsufficiency 1 trial
• Axenfeld-Rieger syndrome 1 trial
  3 sub-types

  • Axenfeld-Rieger syndrome type 3 1 trial
  • Axenfeld-Rieger syndrome type 1 0 trials
  • Axenfeld-Rieger syndrome type 2 0 trials
• BENTA disease 1 trial
• CFTR-related disorder 1 trial
  1 sub-type

  • Congenital bilateral aplasia of vas deferens from CFTR mutation 0 trials
• 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
  11 sub-types

  • Coffin-Siris syndrome 1 0 trials
  • Coffin-Siris syndrome 10 0 trials
  • Coffin-Siris syndrome 11 0 trials
  • Coffin-Siris syndrome 12 0 trials
  • Coffin-Siris syndrome 5 0 trials
  • Coffin-Siris syndrome 7 0 trials
  • Coffin-Siris syndrome 8 0 trials
  • Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
  • Intellectual disability, autosomal dominant 14 0 trials
  • Intellectual disability, autosomal dominant 15 0 trials
  • Intellectual disability, autosomal dominant 16 0 trials
• 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
  1 sub-type

  • Retinitis pigmentosa 59 0 trials
• Koolen-de Vries syndrome 1 trial
  2 sub-types

  • Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome 1 trial
  • Koolen-de Vries syndrome due to a point mutation 0 trials
• L-ferritin deficiency 1 trial
• Mazabraud syndrome 1 trial
• Potocki-Lupski syndrome 1 trial
• RNU4ATAC spectrum disorder 1 trial
  3 sub-types

  • Lowry-Wood syndrome 1 trial
  • Roifman syndrome 1 trial
  • Microcephalic osteodysplastic primordial dwarfism type I 1 trial
• Rombo syndrome 1 trial
• Shashi-Pena syndrome 1 trial
• Snijders Blok-Campeau syndrome 1 trial
• Taqi polymorphism 1 trial
• X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
• Yao syndrome 1 trial
• Aganglionosis, total intestinal 1 trial
• 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
  5 sub-types

  • Choroidal dystrophy, central areolar 2 0 trials
  • Choroidal dystrophy, central areolar, 1 0 trials
  • Choroidal dystrophy, central areolar, 3 0 trials
  • Partial central choroid dystrophy 0 trials
  • Total central choroidal atrophy 0 trials
• Chromosome 15q24 deletion syndrome 1 trial
• Congenital bilateral absence of vas deferens 1 trial
  3 sub-types

  • Congenital bilateral aplasia of vas deferens from CFTR mutation 0 trials
  • Vas deferens, congenital bilateral aplasia of, X-linked 0 trials
  • Vas deferens, congenital unilateral aplasia of 0 trials
• Congenital insensitivity to pain syndrome, Marsili type 1 trial
• 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
• Esophagitis, eosinophilic, 1 1 trial
• Familial male-limited precocious puberty 1 trial
• Familial melanoma 1 trial
  1 sub-type

  • Melanoma, malignant familial intraocular 0 trials
• Fleck corneal dystrophy 1 trial
• Focal dermal hypoplasia 1 trial
• Foveal hypoplasia 1 trial
  4 sub-types

  • GPR143-related foveal hypoplasia 0 trials Sub-types →
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
  • Foveal hypoplasia 1 0 trials
  • Foveal hypoplasia 3 0 trials
• Frontonasal dysplasia 1 trial
  9 sub-types

  • Pai syndrome 0 trials
  • Acromelic frontonasal dysostosis 0 trials
  • Craniofrontonasal dysplasia-Poland anomaly syndrome 0 trials
  • Frontofacionasal dysplasia 0 trials
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 0 trials
  • Frontonasal dysplasia with alopecia and genital anomaly 0 trials
  • Frontorhiny 0 trials
  • Oculoauriculofrontonasal syndrome 0 trials
  • Six2-related frontonasal dysplasia 0 trials
• Graying of hair, precocious 1 trial
• Growth delay due to insulin-like growth factor type 1 deficiency 1 trial
• Hereditary arterial and articular multiple calcification syndrome 1 trial
• Horizontal gaze palsy with progressive scoliosis 1 trial
  2 sub-types

  • Gaze palsy, familial horizontal, with progressive scoliosis 1 0 trials
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 0 trials
• Hyperpigmentation of eyelid 1 trial
• Hypoparathyroidism-deafness-renal disease syndrome 1 trial
• Ichthyosis prematurity syndrome 1 trial
• Immunodysregulation with variable immunodeficiency and autoimmunity 1 trial
• 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
• Neutropenia, chronic familial 1 trial
• Nocturnal enuresis, 2 1 trial
• Nonimmune chronic idiopathic neutropenia of adults 1 trial
• Papillomatosis, confluent and reticulated 1 trial
• Pernicious anemia 1 trial
• Platelet membrane fluidity 1 trial
• Posterior polymorphous corneal dystrophy 1 trial
  4 sub-types

  • Corneal dystrophy, posterior polymorphous, 4 0 trials
  • Posterior polymorphous corneal dystrophy 1 0 trials
  • Posterior polymorphous corneal dystrophy 2 0 trials
  • Posterior polymorphous corneal dystrophy 3 0 trials
• 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
• Tarsal coalition 1 trial
• Taurodontism 1 trial
• Trichomegaly 1 trial
  1 sub-type

  • Familial isolated trichomegaly 0 trials
• Triphalangeal thumb, Nonopposable 1 trial
• Tune deafness 1 trial
• Urolithiasis, uric acid, autosomal dominant 1 trial
• Visceral heterotaxy 1 trial
  19 sub-types

  • Dextrocardia 1 trial
  • Situs inversus 1 trial Sub-types →
  • Heterotaxy, visceral, 1, X-linked 0 trials
  • Heterotaxy, visceral, 10, autosomal, with male infertility 0 trials
  • Heterotaxy, visceral, 11, autosomal, with male infertility 0 trials
  • Heterotaxy, visceral, 12, autosomal 0 trials
  • Heterotaxy, visceral, 13, autosomal 0 trials
  • Heterotaxy, visceral, 14, autosomal 0 trials
  • Heterotaxy, visceral, 2, autosomal 0 trials
  • Heterotaxy, visceral, 3, autosomal 0 trials
  • Heterotaxy, visceral, 4, autosomal 0 trials
  • Heterotaxy, visceral, 5, autosomal 0 trials
  • Heterotaxy, visceral, 6, autosomal 0 trials
  • Heterotaxy, visceral, 7, autosomal 0 trials
  • Heterotaxy, visceral, 8, autosomal 0 trials
  • Heterotaxy, visceral, 9, autosomal, with male infertility 0 trials
  • Laterality defects, autosomal dominant 0 trials
  • Levocardia 0 trials
  • Right atrial isomerism 0 trials
• ACAN-related short stature spectrum 0 trials · 1 incl. sub-types
  3 sub-types

  • Spondyloepimetaphyseal dysplasia, aggrecan type 1 trial
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 trials
  • Spondyloepiphyseal dysplasia, Kimberley type 0 trials
• CACNA1C-related disorder 0 trials · 1 incl. sub-types
  4 sub-types

  • Timothy syndrome 1 trial Sub-types →
  • Brugada syndrome 3 0 trials
  • Long QT syndrome 8 0 trials
  • Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 trials
• ELANE-related neutropenia 0 trials · 1 incl. sub-types
  2 sub-types

  • Cyclic hematopoiesis 1 trial
  • Neutropenia, severe congenital, 1, autosomal dominant 0 trials
• Mendelian encephalopathy 0 trials · 1 incl. sub-types
  19 sub-types

  • Familial acute necrotizing encephalopathy 1 trial
  • Bonnemann-Meinecke-Reich syndrome 0 trials
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 trials
  • Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 0 trials
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 trials
  • Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts 0 trials
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 trials
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 trials
  • Encephalopathy, porphyria-related 0 trials
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 trials Sub-types →
  • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 trials
  • Encephalopathy, progressive, with amyotrophy and optic atrophy 0 trials
  • Encephalopathy, recurrent, of childhood 0 trials
  • Ethylmalonic encephalopathy 0 trials
  • Familial encephalopathy with neuroserpin inclusion bodies 0 trials
  • Severe neonatal-onset encephalopathy with microcephaly 0 trials
  • Severe neurodegenerative syndrome with lipodystrophy 0 trials
  • Spongiform encephalopathy with neuropsychiatric features 0 trials
• NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types
  3 sub-types

  • Thyroid cancer, nonmedullary, 1 1 trial
  • Brain-lung-thyroid syndrome 0 trials
  • Hereditary progressive chorea without dementia 0 trials
• PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0 trials · 1 incl. sub-types
  4 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
  • Epidermolysis bullosa simplex 5C, with pyloric atresia 0 trials
  • Epidermolysis bullosa simplex with nail dystrophy 0 trials
• TOR1AIP1-related nuclear envelopathy 0 trials · 1 incl. sub-types
  2 sub-types

  • TOR1AIP1-related myopathy 0 trials · 1 incl. sub-types Sub-types →
  • TOR1AIP1-related multisystem disorder 0 trials
• WFS1-related disorder 0 trials · 1 incl. sub-types
  3 sub-types

  • Wolfram syndrome 1 1 trial
  • Wolfram-like syndrome 0 trials
  • Autosomal dominant nonsyndromic hearing loss 6 0 trials
• Y-linked disease 0 trials · 1 incl. sub-types
  2 sub-types

  • Retinitis pigmentosa Y-linked 1 trial
  • Nonsyndromic deafness, Y-linked 0 trials Sub-types →
• Acrofacial dysostosis 0 trials · 1 incl. sub-types
  14 sub-types

  • Postaxial acrofacial dysostosis 1 trial
  • Patterson-Stevenson-Fontaine syndrome 0 trials
  • SF3B4-related acrofacial dysostosis 0 trials Sub-types →
  • Acrocraniofacial dysostosis 0 trials
  • Acrofacial dysostosis Cincinnati type 0 trials
  • Acrofacial dysostosis Preis type 0 trials
  • Acrofacial dysostosis Rodriguez type 0 trials
  • Acrofacial dysostosis, Catania type 0 trials
  • Acrofacial dysostosis, Kennedy-Teebi type 0 trials
  • Acrofacial dysostosis, Palagonia type 0 trials
  • Acrofacial dysostosis, Weyers type 0 trials
  • Acrofrontofacionasal dysostosis 0 trials Sub-types →
  • Acromelic frontonasal dysostosis 0 trials
  • Mandibulofacial dysostosis-microcephaly syndrome 0 trials
• Contractures, pterygia, and variable skeletal fusions syndrome 0 trials · 1 incl. sub-types
  2 sub-types

  • Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 trial
  • Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 trials
• Epilepsy, early-onset 0 trials · 1 incl. sub-types
  3 sub-types

  • Epilepsy, early-onset, vitamin B6-dependent 1 trial
  • Epilepsy, early-onset, 3, with or without developmental delay 0 trials
  • Epilepsy, early-onset, with or without developmental delay 0 trials
• Familial vesicoureteral reflux 0 trials · 1 incl. sub-types
  9 sub-types

  • Vesicoureteral reflux 3 1 trial
  • Vesicoureteral reflux 1 0 trials
  • Vesicoureteral reflux 2 0 trials
  • Vesicoureteral reflux 4 0 trials
  • Vesicoureteral reflux 5 0 trials
  • Vesicoureteral reflux 6 0 trials
  • Vesicoureteral reflux 7 0 trials
  • Vesicoureteral reflux 8 0 trials
  • Vesicoureteral reflux, X-linked 0 trials
• Gastrointestinal defect and immunodeficiency syndrome 0 trials · 1 incl. sub-types
  2 sub-types

  • Gastrointestinal defects and immunodeficiency syndrome 1 1 trial
  • Gastrointestinal defects and immunodeficiency syndrome 2 0 trials
• Growth hormone insensitivity syndrome with immune dysregulation 0 trials · 1 incl. sub-types
  2 sub-types

  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 1 trial
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 trials
• Hereditary gallbladder disorder 0 trials · 1 incl. sub-types
  3 sub-types

  • Gallbladder disease 1 1 trial
  • Gallbladder disease 2 0 trials
  • Gallbladder disease 3 0 trials
• Hypothyroidism, congenital, nongoitrous 0 trials · 1 incl. sub-types
  9 sub-types

  • Hypothyroidism due to TSH receptor mutations 1 trial
  • Isolated thyroid-stimulating hormone deficiency 1 trial
  • Congenital nongoitrous hypothyroidism 3 0 trials
  • Congenital nongoitrous hypothyroidism 6 0 trials
  • Hypothyroidism, congenital, nongoitrous, 2 0 trials
  • Hypothyroidism, congenital, nongoitrous, 5 0 trials
  • Hypothyroidism, congenital, nongoitrous, 7 0 trials
  • Hypothyroidism, congenital, nongoitrous, 8 0 trials
  • Hypothyroidism, congenital, nongoitrous, 9 0 trials
• Infantile liver failure 0 trials · 1 incl. sub-types
  4 sub-types

  • Infantile liver failure syndrome 1 1 trial
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 trials
  • Infantile liver failure syndrome 2 0 trials
  • Infantile liver failure syndrome 3 0 trials
• Isolated congenital breast hypoplasia/aplasia 0 trials · 1 incl. sub-types
  3 sub-types

  • Amastia 1 trial
  • Breasts and/or nipples, aplasia or hypoplasia of, 1 0 trials
  • Breasts and/or nipples, aplasia or hypoplasia of, 2 0 trials
• Isolated microphthalmia 0 trials · 1 incl. sub-types
  10 sub-types

  • Microphthalmia, isolated, with coloboma 0 trials · 1 incl. sub-types Sub-types →
  • Isolated microphthalmia 1 0 trials
  • Isolated microphthalmia 2 0 trials Sub-types →
  • Isolated microphthalmia 3 0 trials
  • Isolated microphthalmia 4 0 trials
  • Isolated microphthalmia 5 0 trials
  • Isolated microphthalmia 6 0 trials
  • Isolated microphthalmia 7 0 trials
  • Isolated microphthalmia 8 0 trials
  • Microphthalmia, isolated, with cataract 1 0 trials
• Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 trials · 1 incl. sub-types
  2 sub-types

  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 1 trial
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 trials
• Pancreatic agenesis 0 trials · 1 incl. sub-types
  4 sub-types

  • Pancreatic agenesis 1 1 trial
  • Pancreas, dorsal, agenesis of 0 trials
  • Pancreatic agenesis 2 0 trials
  • Pancreatic agenesis 3 0 trials
• Split hand-foot malformation 0 trials · 1 incl. sub-types
  6 sub-types

  • Split hand-foot malformation 3 1 trial
  • Split hand-foot malformation 1 0 trials
  • Split hand-foot malformation 2 0 trials
  • Split hand-foot malformation 4 0 trials
  • Split hand-foot malformation 5 0 trials
  • Split hand-foot malformation 6 0 trials
• 3MC syndrome 0 trials
  3 sub-types

  • 3MC syndrome 1 0 trials
  • 3MC syndrome 2 0 trials
  • 3MC syndrome 3 0 trials
• 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
  2 sub-types

  • ACD-related long telomere syndrome 0 trials
  • ACD-related short telomere syndrome 0 trials Sub-types →
• ADNP-related blepharophimosis-intellectual disability syndrome 0 trials
• AKT3-related overgrowth spectrum 0 trials
  1 sub-type

  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 trials
• 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
  6 sub-types

  • Adams-Oliver syndrome 1 0 trials
  • Adams-Oliver syndrome 2 0 trials
  • Adams-Oliver syndrome 3 0 trials
  • Adams-Oliver syndrome 4 0 trials
  • Adams-Oliver syndrome 5 0 trials
  • Adams-Oliver syndrome 6 0 trials
• 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
  2 sub-types

  • Atelis syndrome 1 0 trials
  • Atelis syndrome 2 0 trials
• 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
  15 sub-types

  • ACTL6A-related BAFopathy 0 trials
  • Baraitser-Winter syndrome 1 0 trials
  • Coffin-Siris syndrome 1 0 trials
  • Coffin-Siris syndrome 5 0 trials
  • Coffin-Siris syndrome 6 0 trials
  • Coffin-Siris syndrome 8 0 trials
  • Dias-Logan syndrome 0 trials
  • PBRM1-related BAFopathy 0 trials
  • SMARCC1-associated developmental dysgenesis syndrome 0 trials
  • Intellectual developmental disorder with severe speech and ambulation defects 0 trials
  • Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 trials
  • Intellectual disability, autosomal dominant 14 0 trials
  • Intellectual disability, autosomal dominant 15 0 trials
  • Intellectual disability, autosomal dominant 16 0 trials
  • Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
• BMP4-related ocular growth disorder 0 trials
  1 sub-type

  • Microphthalmia with brain and digit anomalies 0 trials
• 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
  2 sub-types

  • Braddock-Carey syndrome 1 0 trials
  • Braddock-carey syndrome 2 0 trials
• Bryant-Li-Bhoj neurodevelopmental syndrome 0 trials
  2 sub-types

  • Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 trials
  • Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 trials
• 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
  3 sub-types

  • Cataract 16 multiple types 0 trials Sub-types →
  • Dilated cardiomyopathy 1II 0 trials
  • Myofibrillar myopathy 2 0 trials
• 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
  2 sub-types

  • Carey-Fineman-Ziter syndrome 1 0 trials
  • Carey-Fineman-Ziter syndrome 2 0 trials
• 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
  2 sub-types

  • ENDOVE syndrome, limb-brain type 0 trials
  • ENDOVE syndrome, limb-only type 0 trials
• EPHB4-associated vascular malformation spectrum 0 trials
  2 sub-types

  • Capillary malformation-arteriovenous malformation 2 0 trials
  • Lymphatic malformation 7 0 trials
• Elsahy-Waters syndrome 0 trials
• Emanuel syndrome 0 trials
• Eosinophilopenia 0 trials
• FDXR-related optic atrophy mitochondrial dysfunction syndrome 0 trials
  3 sub-types

  • Auditory neuropathy-optic atrophy syndrome 0 trials
  • Multiple mitochondrial dysfunctions syndrome 9b 0 trials
  • Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 trials
• FG syndrome 0 trials
  6 sub-types

  • Aarskog-Scott syndrome, X-linked 0 trials
  • FG syndrome 1 0 trials
  • FG syndrome 2 0 trials
  • FG syndrome 3 0 trials
  • FG syndrome 4 0 trials
  • FG syndrome 5 0 trials
• FICUS syndrome 0 trials
• FRAXD syndrome 0 trials
• FRAXF syndrome 0 trials
• Fanconi-like syndrome 0 trials
  1 sub-type

  • FANCM Fanconi-like genomic instability disorder 0 trials
• 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
  3 sub-types

  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 0 trials
  • Beta-thalassemia-X-linked thrombocytopenia syndrome 0 trials
  • Thrombocytopenia with congenital dyserythropoietic anemia 0 trials
• 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
  4 sub-types

  • Houge-Janssens syndrome 1 0 trials
  • Houge-Janssens syndrome 2 0 trials
  • Houge-Janssens syndrome 3 0 trials
  • Houge-Janssens syndrome 4 0 trials
• 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
  3 sub-types

  • Kleefstra syndrome 1 0 trials Sub-types →
  • Kleefstra syndrome 2 0 trials
  • Kleefstra syndrome due to a point mutation 0 trials
• 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
  3 sub-types

  • Weill-Marchesani syndrome 3 0 trials
  • Glaucoma 3, primary congenital, D 0 trials
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 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
  2 sub-types

  • Leydig cell hypoplasia due to complete LH resistance 0 trials
  • Leydig cell hypoplasia due to partial LH resistance 0 trials
• 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
  1 sub-type

  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 trials
• 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
  2 sub-types

  • Corneal dystrophy, Meesmann, 1 0 trials
  • Corneal dystrophy, Meesmann, 2 0 trials
• Meester-Loeys syndrome 0 trials
• Megarbane syndrome 0 trials
• Megarbane-Jalkh syndrome 0 trials
• Melhem-Fahl syndrome 0 trials
• Menke-Hennekam syndrome 0 trials
  2 sub-types

  • Menke-Hennekam syndrome 1 0 trials
  • Menke-Hennekam syndrome 2 0 trials
• 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
  2 sub-types

  • Linear skin defects with multiple congenital anomalies 3 0 trials
  • Mitochondrial complex I deficiency, nuclear type 30 0 trials
• NR2F2 related multiple congenital anomalies/dysmorphic syndrome 0 trials
• NR5A1-related sex development disorder 0 trials
  4 sub-types

  • 46,XX sex reversal 4 0 trials
  • 46,XY sex reversal 3 0 trials
  • Premature ovarian failure 7 0 trials
  • Spermatogenic failure 8 0 trials
• 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
  1 sub-type

  • X-linked Opitz G/BBB syndrome 0 trials
• Opticocochleodentate degeneration 0 trials
• Oroacral syndrome, Verloes-Koulischer type 0 trials
• Osebold skeletal dysplasia/osteolysis syndrome 0 trials
• PI4KA-related disorder 0 trials
  3 sub-types

  • Gastrointestinal defects and immunodeficiency syndrome 2 0 trials
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 trials
  • Spastic paraplegia 84, autosomal recessive 0 trials
• PIK3R1-related immunodeficiency and SHORT syndrome 0 trials
  2 sub-types

  • SHORT syndrome 0 trials
  • Immunodeficiency 36 with lymphoproliferation 0 trials
• PMP22-RAI1 contiguous gene duplication syndrome 0 trials
• POLR1C-related disorder 0 trials
  2 sub-types

  • Treacher Collins syndrome 3 0 trials
  • Hypomyelinating leukodystrophy 11 0 trials
• POLR3B-related disorder 0 trials
  2 sub-types

  • Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 trials
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
• 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
  2 sub-types

  • Hyperuricemic nephropathy, familial juvenile type 4 0 trials
  • Immunodeficiency, common variable, 15 0 trials
• STAD syndrome 0 trials
• SYCE1-related gametogenic failure 0 trials
  2 sub-types

  • Premature ovarian failure 12 0 trials
  • Spermatogenic failure 15 0 trials
• 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
  2 sub-types

  • Stuve-Wiedemann syndrome 2 0 trials
  • Stüve-Wiedemann syndrome 1 0 trials
• 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
  5 sub-types

  • ADULT syndrome 0 trials
  • Rapp-Hodgkin syndrome 0 trials
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials Sub-types →
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
  • Split hand-foot malformation 4 0 trials
• 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
  2 sub-types

  • Teebi hypertelorism syndrome 1 0 trials
  • Teebi hypertelorism syndrome 2 0 trials
• Tenorio syndrome 0 trials
• Tented eyebrows 0 trials
• Tessadori-Van-Haaften neurodevelopmental syndrome 0 trials
  4 sub-types

  • Tessadori-Van Haaften neurodevelopmental syndrome 3 0 trials
  • Tessadori-Van Haaften neurodevelopmental syndrome 4 0 trials
  • Tessadori-van Haaften neurodevelopmental syndrome 1 0 trials
  • Tessadori-van Haaften neurodevelopmental syndrome 2 0 trials
• 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
  2 sub-types

  • Ververi-Brady syndrome 1 0 trials
  • Ververi-Brady syndrome 2 0 trials
• 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
  2 sub-types

  • X inactivation, familial skewed, 1 0 trials
  • X inactivation, familial skewed, 2 0 trials
• 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
  3 sub-types

  • Zimmermann-Laband syndrome 1 0 trials
  • Zimmermann-Laband syndrome 2 0 trials
  • Zimmermann-Laband syndrome 3 0 trials
• 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
  4 sub-types

  • Advance sleep phase syndrome, familial, 4 0 trials
  • Advanced sleep phase syndrome 1 0 trials
  • Advanced sleep phase syndrome 2 0 trials
  • Advanced sleep phase syndrome 3 0 trials
• 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
  4 sub-types

  • Alopecia-intellectual disability syndrome 1 0 trials
  • Alopecia-intellectual disability syndrome 2 0 trials
  • Alopecia-intellectual disability syndrome 3 0 trials
  • Alopecia-intellectual disability syndrome 4 0 trials
• 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
  2 sub-types

  • Microcytic anemia with liver iron overload 0 trials
  • Severe congenital hypochromic anemia with ringed sideroblasts 0 trials
• 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
  1 sub-type

  • Maternal riboflavin deficiency 0 trials
• 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
  2 sub-types

  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant 0 trials
  • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 0 trials
• 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
  1 sub-type

  • Stone in bladder diverticulum 0 trials
• 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
  22 sub-types

  • Ballard syndrome 0 trials
  • Berk-Tabatznik syndrome 0 trials
  • Cooks syndrome 0 trials
  • Osebold-Remondini syndrome 0 trials
  • Brachydactyly type A1 0 trials
  • Brachydactyly type A1A 0 trials
  • Brachydactyly type A1B 0 trials
  • Brachydactyly type A1C 0 trials
  • Brachydactyly type A1D 0 trials
  • Brachydactyly type A2 0 trials
  • Brachydactyly type A3 0 trials
  • Brachydactyly type A4 0 trials
  • Brachydactyly type A5 0 trials
  • Brachydactyly type A7 0 trials
  • Brachydactyly type B 0 trials Sub-types →
  • Brachydactyly type C 0 trials
  • Brachydactyly type D 0 trials
  • Brachydactyly type E 0 trials Sub-types →
  • Brachydactyly-arterial hypertension syndrome 0 trials
  • Camptobrachydactyly 0 trials
  • Non-syndromic brachydactyly 0 trials Sub-types →
  • Preaxial digit brachydactyly-webbed fingers 0 trials
• 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
  3 sub-types

  • Branchiootic syndrome 1 0 trials
  • Branchiootic syndrome 2 0 trials
  • Branchiootic syndrome 3 0 trials
• 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
  3 sub-types

  • Camptodactyly syndrome, Guadalajara type 1 0 trials
  • Camptodactyly syndrome, Guadalajara type 2 0 trials
  • Camptodactyly syndrome, Guadalajara type 3 0 trials
• 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
  2 sub-types

  • Cardioacrofacial dysplasia 1 0 trials
  • Cardioacrofacial dysplasia 2 0 trials
• 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
  2 sub-types

  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 0 trials
  • Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 0 trials
• 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
  2 sub-types

  • Myoclonic cerebellar dyssynergia 0 trials
  • Spinocerebellar ataxia type 17 0 trials
• 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
  2 sub-types

  • Coloboma of choroid and retina 0 trials
  • Coloboma of iris 0 trials
• 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
  2 sub-types

  • Cone-rod dystrophy and hearing loss 1 0 trials
  • Cone-rod dystrophy and hearing loss 2 0 trials
• 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
  2 sub-types

  • Congenital vertical talus, bilateral 0 trials
  • Congenital vertical talus, unilateral 0 trials
• 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
  2 sub-types

  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0 trials
  • Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 0 trials
• 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
  1 sub-type

  • Hemoglobinopathy Toms River 0 trials
• 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
  2 sub-types

  • Atypical dentin dysplasia due to SMOC2 deficiency 0 trials
  • Dentin dysplasia, type IB 0 trials
• Dentin dysplasia type II 0 trials
• Dentin dysplasia-sclerotic bones syndrome 0 trials
• Dentinogenesis imperfecta type 2 0 trials
  1 sub-type

  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 trials
• 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
  2 sub-types

  • Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 0 trials
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 0 trials
• 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
  2 sub-types

  • Diencephalic-mesencephalic junction dysplasia syndrome 1 0 trials
  • Diencephalic-mesencephalic junction dysplasia syndrome 2 0 trials
• 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
  1 sub-type

  • 10p13-p14 deletion syndrome 0 trials
• 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
  1 sub-type

  • Sirenomelia 0 trials
• Familial cavitary optic disk anomaly 0 trials
• Familial cervical artery dissection 0 trials
• Familial gestational hyperthyroidism 0 trials
• Familial glucocorticoid deficiency 0 trials
  6 sub-types

  • Adrenocortical unresponsiveness to ACTH with postreceptor defect 0 trials
  • Glucocorticoid deficiency 1 0 trials
  • Glucocorticoid deficiency 2 0 trials
  • Glucocorticoid deficiency 3 0 trials
  • Glucocorticoid deficiency 4 0 trials
  • Glucocorticoid deficiency 5 0 trials
• Familial hyperthyroidism due to mutations in TSH receptor 0 trials
• Familial lipochrome histiocytosis 0 trials
• Familial monosomy 7 syndrome 0 trials
  2 sub-types

  • Monosomy 7 myelodysplasia and leukemia syndrome 1 0 trials
  • Monosomy 7 myelodysplasia and leukemia syndrome 2 0 trials
• 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
  2 sub-types

  • Visceral myopathy 1 0 trials
  • Visceral myopathy 2 0 trials
• 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
  6 sub-types

  • Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
  • Holt-Oram syndrome 0 trials Sub-types →
  • Brachydactyly-long thumb syndrome 0 trials
  • Heart-hand syndrome type 2 0 trials
  • Heart-hand syndrome, Slovenian type 0 trials
  • Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 0 trials
• 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
  2 sub-types

  • Humero-radio-ulnar synostosis, bilateral 0 trials
  • Humero-radio-ulnar synostosis, unilateral 0 trials
• Humerofemoral hypoplasia with radiotibial ray deficiency 0 trials
• Humeroradial synostosis 0 trials
  4 sub-types

  • Autosomal recessive humeroradial synostosis 0 trials
  • Humero-radial synostosis, bilateral 0 trials
  • Humero-radial synostosis, unilateral 0 trials
  • Humeroradial synostosis with craniofacial anomalies 0 trials
• 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
  1 sub-type

  • Combined immunodeficiency with low Ig due to BCL10 deficiency 0 trials
• 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
  6 sub-types

  • Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 0 trials
  • Pyloric stenosis, infantile hypertrophic, 1 0 trials
  • Pyloric stenosis, infantile hypertrophic, 2 0 trials
  • Pyloric stenosis, infantile hypertrophic, 3 0 trials
  • Pyloric stenosis, infantile hypertrophic, 4 0 trials
  • Pyloric stenosis, infantile hypertrophic, 5 0 trials
• Inherited isolated nail anomaly 0 trials
  9 sub-types

  • Isolated congenital anonychia 0 trials Sub-types →
  • Isolated congenital digital clubbing 0 trials
  • Leukonychia totalis 0 trials
  • Nonsyndromic congenital nail disorder 1 0 trials
  • Nonsyndromic congenital nail disorder 2 0 trials
  • Nonsyndromic congenital nail disorder 3 0 trials
  • Nonsyndromic congenital nail disorder 5 0 trials
  • Nonsyndromic congenital nail disorder 7 0 trials
  • Nonsyndromic congenital nail disorder 8 0 trials
• Inherited oocyte maturation defect 0 trials
  24 sub-types

  • Female infertility due to zona pellucida defect 0 trials
  • Oocyte maturation defect 10 0 trials
  • Oocyte maturation defect 11 0 trials
  • Oocyte maturation defect 12 0 trials
  • Oocyte maturation defect 13 0 trials
  • Oocyte maturation defect 14 0 trials
  • Oocyte maturation defect 2 0 trials
  • Oocyte maturation defect 3 0 trials
  • Oocyte maturation defect 4 0 trials
  • Oocyte maturation defect 5 0 trials
  • Oocyte maturation defect 6 0 trials
  • Oocyte maturation defect 7 0 trials
  • Oocyte maturation defect 8 0 trials
  • Oocyte maturation defect 9 0 trials
  • Oocyte/zygote/embryo maturation arrest 16 0 trials
  • Oocyte/zygote/embryo maturation arrest 17 0 trials
  • Oocyte/zygote/embryo maturation arrest 18 0 trials
  • Oocyte/zygote/embryo maturation arrest 19 0 trials
  • Oocyte/zygote/embryo maturation arrest 20 0 trials
  • Oocyte/zygote/embryo maturation arrest 21 0 trials
  • Oocyte/zygote/embryo maturation arrest 22 0 trials
  • Oocyte/zygote/embryo maturation arrest 23 0 trials
  • Oocyte/zygote/embryo maturation arrest 24 0 trials
  • Oocyte/zygote/embryo maturation arrest 25 0 trials
• 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
  3 sub-types

  • Aniridia 1 0 trials
  • Aniridia 2 0 trials
  • Aniridia 3 0 trials
• Isolated cryptophthalmia 0 trials
  3 sub-types

  • Complete cryptophthalmia 0 trials
  • Congenital symblepharon 0 trials
  • Partial cryptophthalmia 0 trials
• 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
  1 sub-type

  • Congenital nonhemolytic jaundice 0 trials
• 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
  1 sub-type

  • Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 0 trials
• 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
  5 sub-types

  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 trials
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 trials
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 0 trials
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 0 trials
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 trials
• Megaepiphyseal dwarfism 0 trials
• Megalencephaly with dysmyelination 0 trials
• Megalencephaly-polydactyly syndrome 0 trials
• Megalocornea 0 trials
  1 sub-type

  • Isolated congenital megalocornea 0 trials
• 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
  2 sub-types

  • Microcephaly, epilepsy, and diabetes syndrome 1 0 trials
  • Microcephaly, epilepsy, and diabetes syndrome 2 0 trials
• 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
  2 sub-types

  • Bloom syndrome 0 trials
  • Microcephaly, growth restriction, and increased sister chromatid exchange 2 0 trials
• 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
  2 sub-types

  • Microcephaly, short stature, and impaired glucose metabolism 1 0 trials
  • Microcephaly, short stature, and impaired glucose metabolism 2 0 trials
• 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
  4 sub-types

  • Developmental and epileptic encephalopathy, 77 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 trials
• 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
  4 sub-types

  • Multiple synostoses syndrome 1 0 trials
  • Multiple synostoses syndrome 2 0 trials
  • Multiple synostoses syndrome 3 0 trials
  • Multiple synostoses syndrome 4 0 trials
• 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
  4 sub-types

  • Nanophthalmos 1 0 trials
  • Nanophthalmos 2 0 trials
  • Nanophthalmos 3 0 trials
  • Nanophthalmos 4 0 trials
• 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
  1 sub-type

  • Tessier number 4 facial cleft 0 trials
• 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
  19 sub-types

  • Orofaciodigital syndrome 16 0 trials
  • Orofaciodigital syndrome 17 0 trials
  • Orofaciodigital syndrome 18 0 trials
  • Orofaciodigital syndrome 19 0 trials
  • Orofaciodigital syndrome 20 0 trials
  • Orofaciodigital syndrome 21 0 trials
  • Orofaciodigital syndrome III 0 trials
  • Orofaciodigital syndrome IV 0 trials
  • Orofaciodigital syndrome IX 0 trials
  • Orofaciodigital syndrome V 0 trials
  • Orofaciodigital syndrome VII 0 trials
  • Orofaciodigital syndrome VIII 0 trials
  • Orofaciodigital syndrome X 0 trials
  • Orofaciodigital syndrome XI 0 trials
  • Orofaciodigital syndrome XV 0 trials
  • Orofaciodigital syndrome type 12 0 trials
  • Orofaciodigital syndrome type 14 0 trials
  • Orofaciodigital syndrome type 6 0 trials
  • Orofaciodigital syndrome type II 0 trials
• Oromandibular-limb hypogenesis syndrome 0 trials
  4 sub-types

  • Charlie M syndrome 0 trials
  • Hypoglossia-hypodactyly syndrome 0 trials
  • Glossopalatine ankylosis 0 trials
  • Isolated congenital hypoglossia/aglossia 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
  2 sub-types

  • Otofaciocervical syndrome 1 0 trials
  • Otofaciocervical syndrome 2 0 trials
• 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
  2 sub-types

  • Patella aplasia/hypoplasia, bilateral 0 trials
  • Patella aplasia/hypoplasia, unilateral 0 trials
• 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
  2 sub-types

  • Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation 0 trials
  • Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster 0 trials
• 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
  4 sub-types

  • Cranio-osteoarthropathy 0 trials
  • Hypertrophic osteoarthropathy, primary, autosomal dominant 0 trials
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 trials
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 trials
• 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
  2 sub-types

  • Pulmonary venoocclusive disease 1 0 trials
  • Pulmonary venoocclusive disease 2 0 trials
• 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
  2 sub-types

  • Renal-hepatic-pancreatic dysplasia 1 0 trials
  • Renal-hepatic-pancreatic dysplasia 2 0 trials
• 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
  2 sub-types

  • Restrictive dermopathy 1 0 trials
  • Restrictive dermopathy 2 0 trials
• 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
  2 sub-types

  • Brachydactyly type A1 0 trials
  • Short stature with nonspecific skeletal abnormalities 1 0 trials
• 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
  2 sub-types

  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 0 trials
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 trials
• 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
  2 sub-types

  • Specific granule deficiency 1 0 trials
  • Specific granule deficiency 2 0 trials
• 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
  2 sub-types

  • Tetraamelia syndrome 1 0 trials
  • Tetraamelia syndrome 2 0 trials
• 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
  3 sub-types

  • Thyroid hormone metabolism, abnormal 1 0 trials
  • Thyroid hormone metabolism, abnormal, 2 0 trials
  • Thyroid hormone metabolism, abnormal, 3 0 trials
• Thyroid hormone plasma membrane transport defect 0 trials
• Tibia, absence of, with congenital deafness 0 trials
• Tibial aplasia-ectrodactyly syndrome 0 trials
  3 sub-types

  • Chromosome 17P13.3, telomeric, duplication syndrome 0 trials
  • Split-hand/foot malformation with long bone deficiency 1 0 trials
  • Split-hand/foot malformation with long bone deficiency 2 0 trials
• 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
  2 sub-types

  • Van Maldergem syndrome 1 0 trials
  • Van Maldergem syndrome 2 0 trials
• 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
  2 sub-types

  • Visceral neuropathy, familial, 1, autosomal recessive 0 trials
  • Visceral neuropathy, familial, 2, autosomal recessive 0 trials
• 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