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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)
autosomal hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
distal arthrogryposis type 1C  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
hypophosphatasia +   
McCune Albright syndrome  
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
spondylocostal dysostosis 5  
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8 
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   
 3-methylglutaconic aciduria type 7a  
 3p deletion syndrome  
 46,XX sex reversal 2  
 46,XX sex reversal 4  
 46,XX sex reversal 5  
 46,XY sex reversal 10  
 46,XY sex reversal 3  
 46,XY sex reversal 6  
 46,XY sex reversal 9  
 abdominal obesity-metabolic syndrome +   
 ablepharon macrostomia syndrome  
 achondrogenesis type II  
 acrofacial dysostosis Cincinnati type  
 acrokeratosis verruciformis  
 acromelic frontonasal dysostosis  
 adermatoglyphia  
 ADULT syndrome  
 adult-onset autosomal dominant demyelinating leukodystrophy  
 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
 advanced sleep phase syndrome +   
 agammaglobulinemia 10  
 agammaglobulinemia 5  
 agammaglobulinemia 8A  
 age related macular degeneration +   
 Alexander disease  
 Alzheimer's disease 1  
 Alzheimer's disease 2  
 Alzheimer's disease 3 +   
 Alzheimer's disease 4  
 Alzheimer's disease 5 
 Alzheimer's disease 9  
 amelogenesis imperfecta type 1A  
 amelogenesis imperfecta type 1B  
 amelogenesis imperfecta type 3A  
 amelogenesis imperfecta type 3B  
 amelogenesis imperfecta type 4  
 amyotrophic neuralgia  
 Andersen-Tawil syndrome  
 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
 ankylosing spondylitis 2 
 ankyrin-B-related cardiac arrhythmia  
 Annular Epidermolytic Ichthyosis +   
 anterior segment dysgenesis 1  
 anterior segment dysgenesis 4  
 antithrombin III deficiency  
 Antley-Bixler syndrome without disordered steroidogenesis  
 aortic valve disease 1  
 aortic valve disease 2  
 aortic valve disease 3  
 aplasia of lacrimal and salivary glands  
 apolipoprotein C-III deficiency +   
 APP-related cerebral amyloid angiopathy  
 arrhythmogenic right ventricular dysplasia 1  
 arrhythmogenic right ventricular dysplasia 10  
 arrhythmogenic right ventricular dysplasia 12  
 arrhythmogenic right ventricular dysplasia 13  
 arrhythmogenic right ventricular dysplasia 14  
 arrhythmogenic right ventricular dysplasia 3 
 arrhythmogenic right ventricular dysplasia 4 
 arrhythmogenic right ventricular dysplasia 5  
 arrhythmogenic right ventricular dysplasia 8  
 arrhythmogenic right ventricular dysplasia 9  
 atrial heart septal defect 2 +   
 atrial heart septal defect 5  
 atrial heart septal defect 6  
 atrial heart septal defect 7  
 atrial heart septal defect 8  
 atrial heart septal defect 9  
 atrial standstill 1  
 autoimmune interstitial lung, joint, and kidney disease  
 autoimmune lymphoproliferative syndrome type 2A  
 autoimmune lymphoproliferative syndrome type 4  
 autosomal dominant Aarskog syndrome 
 autosomal dominant Alport syndrome  
 autosomal dominant beta thalassemia  
 autosomal dominant centronuclear myopathy +   
 autosomal dominant cerebellar ataxia +   
 autosomal dominant chondrodysplasia punctata +  
 autosomal dominant congenital deafness with onychodystrophy  
 autosomal dominant craniodiaphyseal dysplasia  
 autosomal dominant craniometaphyseal dysplasia  
 autosomal dominant cutis laxa +   
 autosomal dominant distal hereditary motor neuronopathy +   
 Autosomal Dominant Dyskeratosis Congenita +   
 autosomal dominant dystrophic epidermolysis bullosa +   
 autosomal dominant Emery-Dreifuss muscular dystrophy 4  
 autosomal dominant Emery-Dreifuss muscular dystrophy 5  
 autosomal dominant Emery-Dreifuss muscular dystrophy 7  
 autosomal dominant familial periodic fever  
 autosomal dominant familial visceral neuropathy  
 autosomal dominant hyaline body myopathy  
 autosomal dominant hypocalcemia +   
 autosomal dominant hypophosphatemic rickets  
 autosomal dominant intellectual developmental disorder +   
 autosomal dominant isolated ectopia lentis 1  
 autosomal dominant keratitis +   
 autosomal dominant limb-girdle muscular dystrophy +   
 autosomal dominant macrothrombocytopenia TUBB1-related  
 autosomal dominant microcephaly +   
 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  
 autosomal dominant nocturnal frontal lobe epilepsy +   
 autosomal dominant nonsyndromic deafness +   
 autosomal dominant osteopetrosis 1  
 autosomal dominant osteopetrosis 2  
 autosomal dominant polycystic kidney disease +   
 autosomal dominant progressive external ophthalmoplegia 1  
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
 autosomal dominant pseudohypoaldosteronism type 1  
 autosomal dominant Robinow syndrome 1  
 autosomal dominant Robinow syndrome 2  
 autosomal dominant Robinow syndrome 3  
 autosomal dominant sensory ataxia 1  
 autosomal dominant severe congenital neutropenia +   
 autosomal dominant sideroblastic anemia 4  
 autosomal dominant spondyloepiphyseal dysplasia tarda 
 autosomal dominant thrombophilia due to protein S deficiency  
 autosomal dominant vitreoretinochoroidopathy  
 autosomal dominant Wolfram syndrome  
 autosomal dominant woolly hair  
 Axenfeld-Rieger syndrome +   
 Ayme-Gripp syndrome  
 Bainbridge-Ropers syndrome  
 Baraitser-Winter syndrome 1  
 Baraitser-Winter syndrome 2  
 Bart-Pumphrey syndrome  
 Beare-Stevenson cutis gyrata syndrome  
 benign familial hematuria +   
 benign familial infantile seizures 1 
 benign familial infantile seizures 2  
 benign familial infantile seizures 3  
 benign familial infantile seizures 5  
 benign familial infantile seizures 6  
 Beukes hip dysplasia  
 bilateral optic nerve hypoplasia  
 Birk-Barel syndrome  
 Birt-Hogg-Dube syndrome  
 Blau syndrome  
 blepharocheilodontic syndrome +   
 blue color blindness  
 Bosch-Boonstra-Schaaf optic atrophy syndrome  
 Bothnian type palmoplantar keratoderma  
 brachycephaly, trichomegaly, and developmental delay  
 brachydactyly type A1 +   
 brachydactyly type A2 +   
 brachydactyly type C  
 brachydactyly type D +   
 brachydactyly-syndactyly syndrome  
 brain small vessel disease 1  
 brain small vessel disease 2  
 branchiooculofacial syndrome  
 branchiootorenal syndrome +   
 bronchiectasis 1  
 bronchiectasis 2  
 bronchiectasis 3  
 Brooke-Spiegler syndrome  
 Brugada syndrome 1  
 Brugada syndrome 7  
 Brugada syndrome 9  
 bullous congenital ichthyosiform erythroderma  
 Buschke-Ollendorff syndrome  
 C syndrome  
 CADASIL 1  
 CADASIL2  
 campomelic dysplasia +   
 cardiofaciocutaneous syndrome 1  
 cardiofaciocutaneous syndrome 2  
 cardiofaciocutaneous syndrome 3  
 cardiofaciocutaneous syndrome 4  
 Carney complex +   
 Carney-Stratakis syndrome  
 cataract 1 multiple types  
 cataract 10 multiple types  
 cataract 11 multiple types +   
 cataract 12 multiple types  
 cataract 14 multiple types  
 cataract 15 multiple types  
 cataract 16 multiple types  
 cataract 17 multiple types  
 cataract 2 multiple types  
 cataract 20 multiple types  
 cataract 21 multiple types  
 cataract 22 multiple types  
 cataract 24 
 cataract 29 
 cataract 3 multiple types  
 cataract 30  
 cataract 31 multiple types  
 cataract 32 multiple types 
 cataract 33  
 cataract 37 
 cataract 39 multiple types  
 cataract 4 multiple types +   
 cataract 41  
 cataract 42  
 cataract 43  
 cataract 47  
 cataract 5 multiple types  
 cataract 6 multiple types  
 cataract 7  
 cataract 8 multiple types 
 cataract 9 multiple types  
 central conducting lymphatic anomaly  
 central precocious puberty 1  
 central precocious puberty 2  
 cerebrocostomandibular syndrome  
 Charcot-Marie-Tooth disease axonal type 2C  
 Charcot-Marie-Tooth disease axonal type 2CC  
 Charcot-Marie-Tooth disease axonal type 2F  
 Charcot-Marie-Tooth disease axonal type 2K  
 Charcot-Marie-Tooth disease axonal type 2L  
 Charcot-Marie-Tooth disease axonal type 2N  
 Charcot-Marie-Tooth disease axonal type 2O  
 Charcot-Marie-Tooth disease axonal type 2P  
 Charcot-Marie-Tooth disease axonal type 2Q  
 Charcot-Marie-Tooth disease axonal type 2T  
 Charcot-Marie-Tooth disease axonal type 2U  
 Charcot-Marie-Tooth disease axonal type 2V  
 Charcot-Marie-Tooth disease axonal type 2Z  
 Charcot-Marie-Tooth disease dominant intermediate A  
 Charcot-Marie-Tooth disease dominant intermediate B +   
 Charcot-Marie-Tooth disease dominant intermediate C  
 Charcot-Marie-Tooth disease dominant intermediate D  
 Charcot-Marie-Tooth disease dominant intermediate E  
 Charcot-Marie-Tooth disease dominant intermediate F  
 Charcot-Marie-Tooth disease dominant intermediate G  
 Charcot-Marie-Tooth disease type 1A  
 Charcot-Marie-Tooth disease type 1B  
 Charcot-Marie-Tooth disease type 1C  
 Charcot-Marie-Tooth disease type 1D  
 Charcot-Marie-Tooth disease type 1E  
 Charcot-Marie-Tooth disease type 1F  
 Charcot-Marie-Tooth disease type 1G  
 Charcot-Marie-Tooth disease type 2A1  
 Charcot-Marie-Tooth disease type 2A2A  
 Charcot-Marie-Tooth disease type 2B  
 Charcot-Marie-Tooth disease type 2D  
 Charcot-Marie-Tooth disease type 2DD  
 Charcot-Marie-Tooth disease type 2E  
 Charcot-Marie-Tooth disease type 2I  
 Charcot-Marie-Tooth disease type 2J  
 Charcot-Marie-Tooth disease type 2Y  
 Charcot-Marie-Tooth disease type 3  
 Charcot-Marie-Tooth disease type 4E  
 Charcot-Marie-Tooth disease type 5  
 Charcot-Marie-Tooth disease, axonal type 2W  
 cherubism +   
 childhood onset GLUT1 deficiency syndrome 2  
 chromosome 13q14 deletion syndrome  
 chromosome 15q11.2 deletion syndrome  
 chromosome 15q24 deletion syndrome  
 chromosome 15q25 deletion syndrome 
 chromosome 17p13.1 deletion syndrome 
 chromosome 17q11.2 deletion syndrome  
 chromosome 17q12 deletion syndrome  
 chromosome 18p deletion syndrome  
 chromosome 18q deletion syndrome  
 chromosome 19p13.13 deletion syndrome 
 chromosome 19q13.11 deletion syndrome  
 chromosome 5q12 deletion syndrome 
 CINCA syndrome  
 cleft palate, cardiac defects, and intellectual disabillity  
 cleidocranial dysplasia +   
 Clouston syndrome  
 common variable immunodeficiency 10  
 common variable immunodeficiency 13  
 common variable immunodeficiency 14  
 common variable immunodeficiency 2  
 complex cortical dysplasia with other brain malformations +   
 congenital adrenal insufficiency  
 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  
 congenital central hypoventilation syndrome +   
 congenital contractural arachnodactyly  
 congenital diarrhea 6  
 congenital dyserythropoietic anemia type IV  
 congenital fibrosis of the extraocular muscles 1  
 congenital fibrosis of the extraocular muscles 3A  
 congenital fibrosis of the extraocular muscles 3C 
 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
 congenital limbs-face contractures-hypotonia-developmental delay syndrome  
 congenital megabladder  
 congenital muscular dystrophy due to LMNA mutation  
 congenital myasthenic syndrome 18  
 congenital myasthenic syndrome 1A  
 congenital myasthenic syndrome 1B  
 congenital myasthenic syndrome 2A  
 congenital myasthenic syndrome 3A  
 congenital myasthenic syndrome 4A  
 congenital myasthenic syndrome 7  
 congenital myopathy 15  
 congenital myopathy 16  
 congenital myopathy 18  
 congenital myopathy 1A +   
 congenital myopathy 2C 
 congenital myopathy 4A +   
 congenital myopathy 6  
 congenital myopathy 8  
 congenital nongoitrous hypothyroidism 2  
 congenital nongoitrous hypothyroidism 3 
 congenital nongoitrous hypothyroidism 5  
 congenital nongoitrous hypothyroidism 6  
 congenital nongoitrous hypothyroidism 8  
 congenital nystagmus 2 
 congenital nystagmus 3 
 congenital nystagmus 7 
 congenital stationary night blindness autosomal dominant 1  
 congenital stationary night blindness autosomal dominant 2  
 congenital stationary night blindness autosomal dominant 3  
 congenital symmetric circumferential skin creases 1  
 congenital symmetric circumferential skin creases 2  
 congenital vertical talus  
 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A  
 Cornelia de Lange syndrome 1  
 Cornelia de Lange syndrome 3  
 Cornelia de Lange syndrome 4  
 cortisone reductase deficiency 2  
 Costello syndrome  
 craniofacial-deafness-hand syndrome  
 Crouzon syndrome-acanthosis nigricans syndrome  
 CST3-related cerebral amyloid angiopathy +   
 Culler-Jones syndrome  
 Currarino syndrome  
 D-2-hydroxyglutaric aciduria 2  
 dehydrated hereditary stomatocytosis 1  
 dehydrated hereditary stomatocytosis 2  
 delta beta-thalassemia +   
 dentinogenesis imperfecta +   
 Denys-Drash syndrome  
 dermatopathia pigmentosa reticularis  
 DeSanto-Shinawi syndrome  
 developmental and epileptic encephalopathy 100  
 developmental and epileptic encephalopathy 103  
 developmental and epileptic encephalopathy 104  
 developmental and epileptic encephalopathy 108  
 developmental and epileptic encephalopathy 109  
 developmental and epileptic encephalopathy 11  
 developmental and epileptic encephalopathy 13  
 developmental and epileptic encephalopathy 14  
 developmental and epileptic encephalopathy 17  
 developmental and epileptic encephalopathy 19  
 developmental and epileptic encephalopathy 24  
 developmental and epileptic encephalopathy 26  
 developmental and epileptic encephalopathy 27  
 developmental and epileptic encephalopathy 30  
 developmental and epileptic encephalopathy 31A  
 developmental and epileptic encephalopathy 32  
 developmental and epileptic encephalopathy 33  
 developmental and epileptic encephalopathy 4  
 developmental and epileptic encephalopathy 41  
 developmental and epileptic encephalopathy 42  
 developmental and epileptic encephalopathy 43  
 developmental and epileptic encephalopathy 45  
 developmental and epileptic encephalopathy 46  
 developmental and epileptic encephalopathy 47  
 developmental and epileptic encephalopathy 5  
 developmental and epileptic encephalopathy 54  
 developmental and epileptic encephalopathy 56  
 developmental and epileptic encephalopathy 57  
 developmental and epileptic encephalopathy 58  
 developmental and epileptic encephalopathy 59  
 developmental and epileptic encephalopathy 62  
 developmental and epileptic encephalopathy 64  
 developmental and epileptic encephalopathy 65  
 developmental and epileptic encephalopathy 66  
 developmental and epileptic encephalopathy 67  
 developmental and epileptic encephalopathy 69  
 developmental and epileptic encephalopathy 6B  
 developmental and epileptic encephalopathy 7  
 developmental and epileptic encephalopathy 70  
 developmental and epileptic encephalopathy 72  
 developmental and epileptic encephalopathy 73  
 developmental and epileptic encephalopathy 74  
 developmental and epileptic encephalopathy 78  
 developmental and epileptic encephalopathy 79  
 developmental and epileptic encephalopathy 87  
 developmental and epileptic encephalopathy 91  
 developmental and epileptic encephalopathy 92  
 developmental and epileptic encephalopathy 93  
 developmental and epileptic encephalopathy 96  
 developmental and epileptic encephalopathy 97  
 developmental and epileptic encephalopathy 98  
 developmental and epileptic encephalopathy 99  
 Diamond-Blackfan anemia 1  
 Diamond-Blackfan anemia 10  
 Diamond-Blackfan anemia 11  
 Diamond-Blackfan anemia 12  
 Diamond-Blackfan anemia 13  
 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis  
 Diamond-Blackfan anemia 16  
 Diamond-Blackfan anemia 17  
 Diamond-Blackfan anemia 18  
 Diamond-Blackfan anemia 19  
 Diamond-Blackfan anemia 2 
 Diamond-Blackfan anemia 20  
 Diamond-Blackfan anemia 3  
 Diamond-Blackfan anemia 4  
 Diamond-Blackfan anemia 5  
 Diamond-Blackfan anemia 6  
 Diamond-Blackfan anemia 7  
 Diamond-Blackfan anemia 8  
 Diamond-Blackfan anemia 9  
 diaphyseal medullary stenosis with malignant fibrous histiocytoma  
 DICER1 syndrome  
 diffuse cystic renal dysplasia  
 DiGeorge syndrome +   
 dilated cardiomyopathy 1A  
 dilated cardiomyopathy 1AA  
 dilated cardiomyopathy 1B  
 dilated cardiomyopathy 1C  
 dilated cardiomyopathy 1CC  
 dilated cardiomyopathy 1D  
 dilated cardiomyopathy 1DD  
 dilated cardiomyopathy 1E  
 dilated cardiomyopathy 1HH  
 dilated cardiomyopathy 1II  
 dilated cardiomyopathy 1JJ  
 dilated cardiomyopathy 1KK  
 dilated cardiomyopathy 1LL  
 dilated cardiomyopathy 1MM  
 dilated cardiomyopathy 1NN  
 dilated cardiomyopathy 1R  
 dilated cardiomyopathy 1S  
 dilated cardiomyopathy 1U  
 dilated cardiomyopathy 1V  
 dilated cardiomyopathy 1Y  
 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
 distal arthrogryposis type 10 
 distal arthrogryposis type 1A  
 distal arthrogryposis type 1B  
 distal arthrogryposis type 2A  
 distal arthrogryposis type 2B1  
 distal arthrogryposis type 2B2  
 distal arthrogryposis type 2B3  
 distal arthrogryposis type 3  
 distal arthrogryposis type 5  
 distal arthrogryposis type 7  
 distal myopathy 1  
 distal myopathy with rimmed vacuoles 
 dominant optic atrophy plus syndrome  
 dominant pericentral pigmentary retinopathy 
 Doyne honeycomb retinal dystrophy  
 Dravet syndrome  
 Duane-radial ray syndrome  
 dysplastic nevus syndrome +   
 dystonia 12  
 dystonia 21 
 dystonia 23  
 dystonia 24  
 dystonia 25  
 dystonia 5  
 dystonia 9  
 dystransthyretinemic hyperthyroxinemia  
 ectodermal dysplasia 10A  
 ectodermal dysplasia 11A  
 ectodermal dysplasia 12  
 ectodermal dysplasia and immunodeficiency 2  
 EEC syndrome +   
 Ehlers-Danlos syndrome arthrochalasia type 1  
 Ehlers-Danlos syndrome arthrochalasia type 2  
 Ehlers-Danlos syndrome classic type 1  
 Ehlers-Danlos syndrome classic type 2  
 Ehlers-Danlos syndrome periodontal type 1  
 Ehlers-Danlos syndrome periodontal type 2  
 epidermolysis bullosa simplex generalized type +   
 epidermolysis bullosa simplex localized type +   
 epidermolysis bullosa simplex Ogna type  
 epidermolysis bullosa simplex with mottled pigmentation  
 epidermolytic hyperkeratosis 1  
 episodic kinesigenic dyskinesia 1  
 episodic kinesigenic dyskinesia 2 
 epithelial basement membrane dystrophy  
 epithelial recurrent erosion dystrophy  
 erythrokeratodermia variabilis et progressiva 1  
 erythrokeratodermia variabilis et progressiva 2  
 erythrokeratodermia variabilis et progressiva 3  
 erythrokeratodermia variabilis et progressiva 6  
 essential tremor 1  
 essential tremor 2 
 essential tremor 4  
 essential tremor 5  
 essential tremor 6  
 exudative vitreoretinopathy 1  
 exudative vitreoretinopathy 3 
 exudative vitreoretinopathy 5  
 exudative vitreoretinopathy 6  
 exudative vitreoretinopathy 7  
 familial adenomatous polyposis 1  
 familial adult myoclonic epilepsy 1  
 familial adult myoclonic epilepsy 2  
 familial adult myoclonic epilepsy 3  
 familial adult myoclonic epilepsy 4  
 familial adult myoclonic epilepsy 6  
 familial adult myoclonic epilepsy 7  
 familial apolipoprotein A5 deficiency  
 familial Behcet-like autoinflammatory syndrome  
 familial cold autoinflammatory syndrome 1  
 familial cold autoinflammatory syndrome 2  
 familial cold autoinflammatory syndrome 3  
 familial cold autoinflammatory syndrome 4  
 familial encephalopathy with neuroserpin inclusion bodies  
 familial episodic pain syndrome 1  
 familial episodic pain syndrome 2  
 familial episodic pain syndrome 3  
 familial erythrocytosis 1  
 familial erythrocytosis 3  
 familial erythrocytosis 5  
 familial expansile osteolysis  
 familial gestational hyperthyroidism  
 familial hyperinsulinemic hypoglycemia 1  
 familial hyperinsulinemic hypoglycemia 2  
 familial hyperinsulinemic hypoglycemia 3  
 familial hyperinsulinemic hypoglycemia 5  
 familial hyperinsulinemic hypoglycemia 6  
 familial hyperinsulinemic hypoglycemia 7  
 familial hypocalciuric hypercalcemia +   
 familial juvenile hyperuricemic nephropathy +   
 familial male-limited precocious puberty  
 familial partial lipodystrophy type 2  
 familial partial lipodystrophy type 3  
 familial partial lipodystrophy type 4  
 familial progressive hyperpigmentation with or without hypopigmentation  
 familial temporal lobe epilepsy 1  
 familial temporal lobe epilepsy 2  
 familial temporal lobe epilepsy 3  
 familial temporal lobe epilepsy 4 
 familial temporal lobe epilepsy 5  
 familial temporal lobe epilepsy 6 
 familial temporal lobe epilepsy 7  
 familial temporal lobe epilepsy 8  
 familial visceral amyloidosis  
 Fanconi anemia complementation group R  
 Fanconi renotubular syndrome 1  
 Fanconi renotubular syndrome 3  
 Fanconi renotubular syndrome 4  
 Feingold syndrome +   
 fibrochondrogenesis 2  
 fibrodysplasia ossificans progressiva  
 Floating-Harbor syndrome  
 focal nonepidermolytic palmoplantar keratoderma 1  
 focal nonepidermolytic palmoplantar keratoderma 2  
 focal or diffuse nonepidermolytic palmoplantar keratoderma  
 focal segmental glomerulosclerosis 1  
 focal segmental glomerulosclerosis 2  
 focal segmental glomerulosclerosis 5  
 focal segmental glomerulosclerosis 7  
 focal segmental glomerulosclerosis 8  
 Frasier syndrome  
 frontometaphyseal dysplasia 2  
 geleophysic dysplasia 2  
 geleophysic dysplasia 3  
 giant axonal neuropathy 2  
 gingival fibromatosis 5  
 gnathodiaphyseal dysplasia  
 granular corneal dystrophy +   
 Greig cephalopolysyndactyly syndrome  
 GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
 growth hormone insensitivity syndrome with immune dysregulation 2  
 Guttmacher syndrome  
 Hailey-Hailey disease  
 Hajdu-Cheney syndrome  
 hand-foot-genital syndrome  
 hawkinsinuria  
 Heinz body anemia  
 heparin cofactor II deficiency  
 hereditary angioedema +   
 hereditary breast ovarian cancer syndrome  
 hereditary diffuse gastric cancer  
 Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
 hereditary hemorrhagic telangiectasia +   
 hereditary lymphedema IA  
 hereditary lymphedema IB 
 hereditary lymphedema IC  
 hereditary lymphedema ID  
 hereditary lymphedema II 
 hereditary mixed polyposis syndrome 2  
 hereditary multiple exostoses +   
 hereditary neuropathy with liability to pressure palsies  
 hereditary neutrophilia  
 hereditary sensory and autonomic neuropathy type 1A  
 hereditary sensory and autonomic neuropathy type 1C  
 hereditary sensory and autonomic neuropathy type 7  
 hereditary sensory neuropathy type 1B 
 hereditary sensory neuropathy type 1D  
 hereditary sensory neuropathy type 1E  
 hereditary sensory neuropathy type 1F  
 hereditary spastic paraplegia 10  
 hereditary spastic paraplegia 12  
 hereditary spastic paraplegia 13  
 hereditary spastic paraplegia 17  
 hereditary spastic paraplegia 19 
 hereditary spastic paraplegia 29 
 hereditary spastic paraplegia 31  
 hereditary spastic paraplegia 33  
 hereditary spastic paraplegia 36 
 hereditary spastic paraplegia 37 
 hereditary spastic paraplegia 38 
 hereditary spastic paraplegia 3A  
 hereditary spastic paraplegia 4  
 hereditary spastic paraplegia 41 
 hereditary spastic paraplegia 42  
 hereditary spastic paraplegia 6  
 hereditary spastic paraplegia 72  
 hereditary spastic paraplegia 73  
 hereditary spastic paraplegia 79  
 hereditary spastic paraplegia 8  
 hereditary spastic paraplegia 80  
 hereditary spastic paraplegia 9A  
 hereditary spherocytosis type 1  
 hereditary spherocytosis type 2  
 hereditary spherocytosis type 4  
 holoprosencephaly 1  
 holoprosencephaly 11  
 holoprosencephaly 2  
 holoprosencephaly 3  
 holoprosencephaly 4  
 holoprosencephaly 5  
 holoprosencephaly 7  
 holoprosencephaly 9  
 Holt-Oram syndrome  
 hot water epilepsy 1 
 hyper IgE recurrent infection syndrome 1  
 hyperalphalipoproteinemia 1  
 hyperekplexia 1  
 hyperekplexia 3  
 hyperferritinemia-cataract syndrome  
 hypertension and brachydactyly syndrome  
 hypochondroplasia  
 hypogonadotropic hypogonadism 14 with or without anosmia  
 hypogonadotropic hypogonadism 15 with or without anosmia  
 hypogonadotropic hypogonadism 16 with or without anosmia  
 hypogonadotropic hypogonadism 17 with or without anosmia  
 hypogonadotropic hypogonadism 18 with or without anosmia  
 hypogonadotropic hypogonadism 19 with or without anosmia  
 hypogonadotropic hypogonadism 2 with or without anosmia +   
 hypogonadotropic hypogonadism 20 with or without anosmia  
 hypogonadotropic hypogonadism 21 with or without anosmia  
 hypogonadotropic hypogonadism 3 with or without anosmia  
 hypogonadotropic hypogonadism 4 with or without anosmia  
 hypogonadotropic hypogonadism 5 with or without anosmia +   
 hypogonadotropic hypogonadism 6 with or without anosmia  
 hypogonadotropic hypogonadism 9 with or without anosmia  
 hypoinsulinemic hypoglycemia with hemihypertrophy  
 hypomyelinating leukodystrophy 16  
 hypomyelinating leukodystrophy 19  
 hypomyelinating leukodystrophy 22  
 hypomyelinating leukodystrophy 24  
 hypomyelinating leukodystrophy 25  
 hypomyelinating leukodystrophy 6  
 hypophosphatemic nephrolithiasis/osteoporosis 1  
 hypophosphatemic nephrolithiasis/osteoporosis 2  
 hypoplastic or aplastic tibia with polydactyly  
 hypotonia, ataxia, and delayed development syndrome  
 hypotrichosis 1  
 hypotrichosis 11  
 hypotrichosis 12  
 hypotrichosis 13  
 hypotrichosis 2  
 hypotrichosis 3  
 hypotrichosis 4  
 hypotrichosis 5  
 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
 ichthyosis vulgaris +   
 immunodeficiency 11B  
 immunodeficiency 13  
 immunodeficiency 14  
 immunodeficiency 15A  
 immunodeficiency 21  
 immunodeficiency 27B  
 immunodeficiency 31A  
 immunodeficiency 31C  
 immunodeficiency 32A  
 immunodeficiency 36  
 immunodeficiency 39  
 immunodeficiency 49  
 immunodeficiency 60  
 immunodeficiency 70  
 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis  
 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia  
 inclusion body myopathy and brain white matter abnormalities  
 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
 inflammatory bowel disease 21 
 inflammatory bowel disease 29  
 inflammatory bowel disease 3 
 inflammatory bowel disease 30  
 intellectual disability-severe speech delay-mild dysmorphism syndrome  
 intracranial berry aneurysm 1 
 intracranial berry aneurysm 3 
 intrahepatic cholestasis of pregnancy 1  
 intrahepatic cholestasis of pregnancy 3  
 iridogoniodysgenesis syndrome +   
 ischiocoxopodopatellar syndrome  
 isolated elevated serum creatine phosphokinase levels  
 isolated microphthalmia 7  
 isolated mitochondrial myopathy  
 ITM2B-related cerebral amyloid angiopathy 1  
 ITM2B-related cerebral amyloid angiopathy 2  
 IVIC syndrome  
 Jansen's metaphyseal chondrodysplasia  
 juvenile glaucoma  
 juvenile polyposis syndrome +   
 keratosis palmoplantaris striata 1  
 keratosis palmoplantaris striata 2  
 keratosis palmoplantaris striata 3  
 King Denborough syndrome  
 KINSSHIP syndrome  
 Kleefstra syndrome 1  
 Kleefstra syndrome 2  
 Klippel-Feil syndrome 1  
 Klippel-Feil syndrome 3  
 Kniest dysplasia  
 LADD syndrome +   
 Larsen syndrome  
 lateral meningocele syndrome  
 lattice corneal dystrophy +   
 Leber congenital amaurosis 11  
 Leber congenital amaurosis 13  
 Leber congenital amaurosis with early-onset deafness  
 Lenz-Majewski hyperostotic dwarfism  
 leucine-sensitive hypoglycemia of infancy  
 Li-Fraumeni syndrome +   
 lissencephaly 1  
 lissencephaly 10  
 lissencephaly 3 +   
 lissencephaly 9 with complex brainstem malformation  
 Loeys-Dietz syndrome +   
 long QT syndrome 1  
 long QT syndrome 10 +   
 long QT syndrome 11  
 long QT syndrome 12  
 long QT syndrome 13  
 long QT syndrome 14  
 long QT syndrome 15  
 long QT syndrome 2  
 long QT syndrome 3  
 long QT syndrome 4  
 long QT syndrome 5  
 long QT syndrome 6  
 long QT syndrome 9  
 lymphedema-distichiasis syndrome +   
 Lynch syndrome +   
 macrocephaly-autism syndrome  
 malignant hyperthermia +   
 mandibulofacial dysostosis, Guion-Almeida type  
 Marsili syndrome  
 maturity-onset diabetes of the young +   
 Meesmann corneal dystrophy 1  
 Meesmann corneal dystrophy 2  
 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
 megalencephalic leukoencephalopathy with subcortical cysts 2B  
 Meier-Gorlin syndrome 6  
 melanoma and neural system tumor syndrome  
 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
 metatropic dysplasia  
 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
 Miller-Dieker lissencephaly syndrome  
 mitochondrial DNA depletion syndrome 12a  
 Miura type epiphyseal chondrodysplasia  
 Moebius syndrome +   
 monilethrix +   
 Mowat-Wilson syndrome  
 Muckle-Wells syndrome  
 Muenke syndrome  
 Mullerian aplasia and hyperandrogenism  
 multicentric carpotarsal osteolysis syndrome  
 multiple cutaneous and mucosal venous malformations  
 multiple endocrine neoplasia type 1  
 multiple endocrine neoplasia type 2A +   
 multiple endocrine neoplasia type 2B +   
 multiple endocrine neoplasia type 4  
 multiple epiphyseal dysplasia 1  
 multiple epiphyseal dysplasia 2  
 multiple epiphyseal dysplasia 3  
 multiple epiphyseal dysplasia 5  
 multiple epiphyseal dysplasia 6  
 multiple epiphyseal dysplasia with myopia and deafness  
 multiple synostoses syndrome +   
 multiple types of congenital heart defects 6  
 myoclonic dystonia 11  
 myoclonic dystonia 15 
 myoclonic dystonia 26  
 myoclonic-atonic epilepsy  
 myofibrillar myopathy 1  
 myofibrillar myopathy 2  
 myofibrillar myopathy 4  
 myofibrillar myopathy 5  
 myofibrillar myopathy 6  
 Naegeli-Franceschetti-Jadassohn syndrome  
 nail-patella syndrome +   
 nemaline myopathy 4  
 nemaline myopathy 6  
 nephrogenic diabetes insipidus type 2  
 nephrotic syndrome type 4  
 neurodegeneration with brain iron accumulation 3  
 neurodevelopmental disorder with involuntary movements  
 neurofibromatosis +   
 neurofibromatosis-Noonan syndrome  
 neurogenic scapuloperoneal syndrome Kaeser type  
 neurohypophyseal diabetes insipidus +   
 neuronal ceroid lipofuscinosis 4  
 neuronal intranuclear inclusion disease  
 neurooculocardiogenitourinary syndrome  
 nevoid basal cell carcinoma syndrome 1  
 NFIA-related disorder  
 nonautoimmune hyperthyroidism  
 nonsyndromic congenital nail disorder 1  
 nonsyndromic congenital nail disorder 2 
 nonsyndromic congenital nail disorder 3  
 nonsyndromic congenital nail disorder 5 
 nonsyndromic congenital nail disorder 6 
 nonsyndromic congenital nail disorder 7 
 nonsyndromic congenital nail disorder 8  
 Noonan syndrome 1  
 Noonan syndrome 10  
 Noonan syndrome 11  
 Noonan syndrome 12  
 Noonan syndrome 13  
 Noonan syndrome 3  
 Noonan syndrome 4  
 Noonan syndrome 5  
 Noonan syndrome 6  
 Noonan syndrome 7  
 Noonan syndrome 8  
 Noonan syndrome 9  
 Noonan syndrome with multiple lentigines +   
 oblique facial clefting 1  
 ocular albinism with sensorineural deafness  
 oculopharyngodistal myopathy 1  
 oculopharyngodistal myopathy 2  
 oculopharyngodistal myopathy 3  
 oculopharyngodistal myopathy 4  
 omodysplasia 2  
 optic atrophy 1  
 optic atrophy 10  
 optic atrophy 12  
 optic atrophy 3  
 optic atrophy 4 
 optic atrophy 5  
 optic atrophy 8 
 orofacial cleft 1  
 orofacial cleft 13 
 orofacial cleft 6  
 orofaciodigital syndrome X 
 osteogenesis imperfecta type 1  
 osteogenesis imperfecta type 2 +   
 osteogenesis imperfecta type 3  
 osteogenesis imperfecta type 4  
 osteogenesis imperfecta type 5  
 osteoglophonic dysplasia  
 otospondylomegaepiphyseal dysplasia, autosomal dominant  
 ovarian dysgenesis 8  
 overhydrated hereditary stomatocytosis  
 pachyonychia congenita +   
 Paget's disease of bone 2  
 Paget's disease of bone 3  
 Paget's disease of bone 4 
 Paget's disease of bone 6  
 Pallister-Hall syndrome +   
 palmoplantar keratoderma-deafness syndrome  
 palmoplantar keratoderma-esophageal carcinoma syndrome  
 pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
 PAPA syndrome  
 paraganglioma +   
 paramyotonia congenita of Von Eulenburg  
 parastremmatic dwarfism  
 Parkinson's disease 1  
 Parkinson's disease 17  
 Parkinson's disease 21  
 Parkinson's disease 22  
 Parkinson's disease 3 
 Parkinson's disease 4  
 Parkinson's disease 8  
 paroxysmal extreme pain disorder  
 paroxysmal nonkinesigenic dyskinesia 1  
 paroxysmal nonkinesigenic dyskinesia 2 
 Pelger-Huet anomaly +   
 permanent neonatal diabetes mellitus +   
 Perry syndrome  
 Pfeiffer syndrome  
 piebaldism +   
 pigmented paravenous chorioretinal atrophy  
 Pitt-Hopkins syndrome +   
 platelet-type bleeding disorder 12 
 platelet-type bleeding disorder 14  
 platelet-type bleeding disorder 15  
 platelet-type bleeding disorder 16  
 platelet-type bleeding disorder 17  
 platelet-type bleeding disorder 20  
 platelet-type bleeding disorder 3  
 platelet-type bleeding disorder 9  
 polycystic liver disease +   
 popliteal pterygium syndrome +   
 posterior amorphous corneal dystrophy 
 posterior polymorphous corneal dystrophy 1  
 posterior polymorphous corneal dystrophy 2  
 posterior polymorphous corneal dystrophy 4  
 primary ciliary dyskinesia 43  
 primary failure of tooth eruption  
 primary ovarian insufficiency 11  
 primary ovarian insufficiency 16  
 primary ovarian insufficiency 3  
 primary ovarian insufficiency 5  
 primary ovarian insufficiency 6  
 primary ovarian insufficiency 7  
 progeria +   
 progressive familial heart block type IA  
 progressive familial heart block type IB  
 progressive familial heart block type II 
 progressive myoclonus epilepsy 7  
 progressive osseous heteroplasia  
 proprotein convertase 1/3 deficiency  
 protein C deficiency +   
 prothrombin thrombophilia 
 proximal symphalangism +   
 pseudoachondroplasia  
 pulmonary venoocclusive disease 1  
 punctate palmoplantar keratoderma type II  
 punctate palmoplantar keratoderma type III 
 Rapp-Hodgkin syndrome  
 renal coloboma syndrome  
 retinal arterial tortuosity  
 retinal cone dystrophy 1 
 retinal vasculopathy with cerebral leukodystrophy  
 retinitis pigmentosa 1  
 retinitis pigmentosa 10  
 retinitis pigmentosa 11  
 retinitis pigmentosa 13  
 retinitis pigmentosa 17  
 retinitis pigmentosa 18  
 retinitis pigmentosa 27  
 retinitis pigmentosa 33  
 retinitis pigmentosa 35  
 retinitis pigmentosa 37  
 retinitis pigmentosa 4  
 retinitis pigmentosa 42  
 retinitis pigmentosa 60  
 retinitis pigmentosa 63 
 retinitis pigmentosa 7  
 retinitis pigmentosa 70  
 retinitis pigmentosa 83  
 retinitis pigmentosa 87  
 retinitis pigmentosa 89  
 retinitis pigmentosa 9  
 retinitis pigmentosa-deafness syndrome  
 ring dermoid of cornea  
 Romano-Ward Syndrome  
 Rubinstein-Taybi syndrome +   
 SADDAN  
 Saethre-Chotzen syndrome  
 Saul-Wilson syndrome  
 scalp-ear-nipple syndrome  
 scapuloperoneal spinal muscular atrophy  
 schizophrenia 1 
 schizophrenia 10 
 schizophrenia 11 
 schizophrenia 12 
 schizophrenia 15  
 schizophrenia 2 
 schizophrenia 3 
 schizophrenia 4  
 schizophrenia 5 
 schizophrenia 6  
 schizophrenia 7 
 schizophrenia 8 
 Schnyder corneal dystrophy  
 Schopf-Schulz-Passarge syndrome  
 sclerosteosis 2  
 selective pituitary thyroid hormone resistance  
 sepiapterin reductase deficiency  
 SHORT syndrome  
 snowflake vitreoretinal degeneration  
 solitary median maxillary central incisor  
 Sorsby's fundus dystrophy  
 Sotos syndrome 1  
 Sotos syndrome 2  
 spastic ataxia 1  
 spastic ataxia 7 
 speech-language disorder-1  
 spermatogenic failure 10  
 spermatogenic failure 11  
 spermatogenic failure 12  
 spermatogenic failure 2  
 spermatogenic failure 3  
 spermatogenic failure 32  
 spermatogenic failure 36  
 spermatogenic failure 4  
 spermatogenic failure 8  
 spinal muscular atrophy with predominant lower extremity +   
 spinal muscular atrophy, Jokela type  
 split hand-foot malformation 1  
 split hand-foot malformation 4  
 spondyloepimetaphyseal dysplasia with joint laxity type 2  
 spondyloepimetaphyseal dysplasia, Missouri type  
 spondyloepimetaphyseal dysplasia, Strudwick type  
 spondyloepiphyseal dysplasia congenita  
 spondyloepiphyseal dysplasia Kimberley type  
 spondyloepiphyseal dysplasia Maroteaux type  
 spondyloepiphyseal dysplasia Nishimura type  
 spondyloepiphyseal dysplasia Stanescu type  
 spondylometaphyseal dysplasia corner fracture type  
 spondylometaphyseal dysplasia Kozlowski type  
 spondyloperipheral dysplasia  
 Stickler syndrome 1  
 Stickler syndrome 2  
 stiff skin syndrome  
 STING-associated vasculopathy with onset in infancy  
 Stormorken syndrome  
 Sweeney-Cox syndrome  
 syndactyly type 3  
 syndactyly type 4  
 syndactyly type 5  
 syndactyly-telecanthus-anogenital and renal malformations syndrome  
 syndromic microphthalmia 3  
 syndromic microphthalmia 5  
 syndromic microphthalmia 6  
 tarsal-carpal coalition syndrome +   
 Tatton-Brown-Rahman syndrome  
 Teebi hypertelorism syndrome 1  
 terminal osseous dysplasia  
 Thiel-Behnke corneal dystrophy  
 Thomsen disease  
 thrombophilia due to activated protein C resistance  
 thrombophilia due to HRG deficiency  
 thrombophilia due to thrombin defect  
 tibial muscular dystrophy  
 Tietz syndrome  
 Timothy syndrome  
 torsion dystonia 1  
 torsion dystonia 13 
 torsion dystonia 4  
 torsion dystonia 6  
 torsion dystonia 7  
 torsion dystonia with onset in infancy  
 Townes-Brocks syndrome +   
 transthyretin amyloidosis  
 Treacher Collins syndrome +   
 trichodontoosseous syndrome  
 trichorhinophalangeal syndrome type I  
 trichorhinophalangeal syndrome type II  
 trichorhinophalangeal syndrome type III  
 tuberous sclerosis +   
 tubular aggregate myopathy 1  
 tubular aggregate myopathy 2  
 type 1 diabetes mellitus 2  
 Ullrich congenital muscular dystrophy +   
 ulnar-mammary syndrome  
 uveal coloboma-cleft lip and palate-intellectual disability  
 variant ABeta2M amyloidosis 
 vascular type Ehlers-Danlos syndrome +   
 vertebral anomalies and variable endocrine and T-cell dysfunction  
 vertebral hypersegmentation and orofacial anomalies  
 Vohwinkel syndrome  
 Waardenburg's syndrome +   
 warfarin sensitivity +   
 Weaver syndrome  
 WEISS-KRUSZKA SYNDROME  
 Weyers acrofacial dysostosis  
 WHIM syndrome 1  
 white sponge nevus 1  
 white sponge nevus 2  
 Williams-Beuren syndrome +   
 Worth syndrome