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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
amyloidosis +     
Deafness +     
urticaria +     
3-methylglutaconic aciduria type 7a  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
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  
Absence of Tibia with Congenital Deafness 
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 +   
Albinism Deafness Syndrome 
Alexander disease  
allergic urticaria 
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  
Amyloid Neuropathies +   
amyloidoma +   
amyotrophic lateral sclerosis type 1  
amyotrophic lateral sclerosis type 24  
amyotrophic lateral sclerosis type 25  
amyotrophic lateral sclerosis type 26  
amyotrophic lateral sclerosis type 28  
amyotrophic neuralgia  
Andersen-Tawil syndrome  
aniridia 1  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
Annular Epidermolytic Ichthyosis +   
anterior segment dysgenesis 1  
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 A-IV associated amyloidosis 
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
Aquagenic Urticaria 
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  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
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 nonsyndromic deafness 65  
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 +   
Ayazi 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 +   
blepharophimosis-impaired intellectual development 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  
Branchiogenic-Deafness Syndrome 
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  
Burn-McKeown syndrome  
Buschke-Ollendorff syndrome  
C syndrome  
CADASIL 1  
CADASIL2  
campomelic dysplasia +   
cardiac amyloidosis  
Cardioauditory Syndrome of Sanchez Cascos 
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Carney complex +   
Carney-Stratakis syndrome  
carpal tunnel syndrome 1  
carpal tunnel syndrome 2  
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  
cerebral amyloid angiopathy +   
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  
childhood-onset neurodegeneration with brain atrophy  
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 1p36.33 duplication syndrome 
chromosome 5q12 deletion syndrome 
chronic urticaria +  
CINCA syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
cleidocranial dysplasia +   
Clouston syndrome  
Cold Hypersensitivity  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
common variable immunodeficiency 10  
common variable immunodeficiency 13  
common variable immunodeficiency 14  
common variable immunodeficiency 2  
complex cortical dysplasia with other brain malformations +   
cone-rod dystrophy 24  
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 Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
congenital diarrhea 6  
congenital dyserythropoietic anemia type IV  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
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 Myopathy with Neuropathy and Deafness  
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  
Cornelia de Lange syndrome 6  
cortisone reductase deficiency 2  
Costello syndrome  
Coxoauricular 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  
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
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 116  
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  
developmental dysplasia of the hip 1  
developmental dysplasia of the hip 2 
dialysis-related amyloidosis 
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  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
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 3  
distal myopathy Tateyama type  
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 28, childhood-onset  
dystonia 30  
dystonia 33  
dystonia 5  
dystonia 9  
dystonia, DOPA-responsive  
dystransthyretinemic hyperthyroxinemia  
early-onset dystonia and/or spastic paraplegia  
early-onset epilepsy 2  
early-onset epilepsy 3  
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  
epidermolytic palmoplantar keratoderma 1  
epidermolytic palmoplantar keratoderma 2  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
episodic ataxia type 9  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
episodic kinesigenic dyskinesia 3  
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 Amyloidosis +   
familial apolipoprotein A5 deficiency  
familial Behcet-like autoinflammatory syndrome 1  
familial cold 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 focal epilepsy with variable foci +   
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 medullary thyroid carcinoma  
familial multiple lipomatosis 
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  
Fine-Lubinsky Syndrome  
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  
Fountain Syndrome 
foveal hypoplasia 1  
Frasier syndrome  
frontometaphyseal dysplasia 2  
geleophysic dysplasia 2  
geleophysic dysplasia 3  
giant axonal neuropathy 2  
gingival fibromatosis 5  
glomangioma +   
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  
Harel-Yoon 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 24 
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 72A  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 79A  
hereditary spastic paraplegia 8  
hereditary spastic paraplegia 80  
hereditary spastic paraplegia 88  
hereditary spastic paraplegia 90A  
hereditary spastic paraplegia 90B  
hereditary spastic paraplegia 9A  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
holoprosencephaly 1  
holoprosencephaly 11  
holoprosencephaly 12  
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  
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
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  
Hypokalemic Tubulopathy and Deafness  
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 +   
idiopathic pulmonary fibrosis  
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  
immunoglobulin heavy chain amyloidosis 
immunoglobulin heavy-and-light chain 
immunoglobulin light chain amyloidosis  
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  
infantile-onset distal myopathy 
inflammatory bowel disease 21 
inflammatory bowel disease 29  
inflammatory bowel disease 3 
inflammatory bowel disease 30  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
interstitial lung disease 1  
interstitial lung disease 2  
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  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
juvenile amyotrophic lateral sclerosis type 27  
juvenile glaucoma  
juvenile polyposis syndrome +   
Keipert syndrome  
Keratitis-Ichthyosis-Deafness 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  
Konigsmark Knox Hussels Syndrome 
lacrimoauriculodentodigital syndrome 1  
lacrimoauriculodentodigital syndrome 2  
lacrimoauriculodentodigital syndrome 3  
Larsen syndrome  
lateral meningocele syndrome  
lattice corneal dystrophy +   
Laurin-Sandrow syndrome  
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Leber congenital amaurosis with early-onset deafness  
Legius syndrome  
Lenz-Majewski hyperostotic dwarfism  
leucine-sensitive hypoglycemia of infancy  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
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 16  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 4  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 8  
long QT syndrome 9  
lymphedema-distichiasis syndrome +   
Lynch Lee Murday syndrome 
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
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  
Melkersson-Rosenthal syndrome  
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
metatropic dysplasia  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Miller-Dieker lissencephaly syndrome  
Mitchell syndrome  
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
Moebius syndrome +   
monilethrix +   
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)
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 synostoses syndrome 1  
multiple types of congenital heart defects 6  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myoclonic dystonia 34  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
myoclonic-atonic epilepsy  
Myoclonus, Cerebellar Ataxia, and Deafness 
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Naegeli-Franceschetti-Jadassohn syndrome  
nail-patella syndrome +   
Nathalie Syndrome 
nemaline myopathy 4  
nemaline myopathy 5C  
nemaline myopathy 6  
nephrogenic diabetes insipidus type 2  
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
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  
Nicolaides-Baraitser syndrome  
nonautoimmune hyperthyroidism  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
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  
nonsyndromic deafness +   
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 
Opticocochleodentate Degeneration 
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  
otosclerosis +   
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  
Papular Urticaria 
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 
paroxysmal nonkinesigenic dyskinesia 3  
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
Peroxisome biogenesis disorder 4B  
Perrault syndrome +   
Perry syndrome  
Pfeiffer syndrome  
physical urticaria +   
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 +   
polycystic liver disease 2  
polycystic liver disease 3 with or without kidney cysts  
polycystic liver disease 4 with or without kidney cysts  
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  
primary pigmented nodular adrenocortical disease 1  
primary pigmented nodular adrenocortical disease 2  
primary pigmented nodular adrenocortical disease 4  
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 +   
proteosome-associated autoinflammatory syndrome 2  
prothrombin thrombophilia 
proximal symphalangism +   
pseudoachondroplasia  
pulmonary venoocclusive disease 1  
punctate palmoplantar keratoderma type II  
punctate palmoplantar keratoderma type III 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
renal hypomagnesemia 7, with or without dilated cardiomyopathy  
retinal arterial tortuosity  
retinal cone dystrophy 1 
retinal macular dystrophy +   
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  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle 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  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel Giedion syndrome  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5 
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
Schlegelberger Grote Syndrome 
Schnyder corneal dystrophy  
Schopf-Schulz-Passarge syndrome  
sclerosteosis 2  
Secretory Diarrhea, Myopathy, and Deafness 
selective pituitary thyroid hormone resistance  
sepiapterin reductase deficiency  
serum amyloid A amyloidosis 
SHORT syndrome  
Siddiqi syndrome  
Sinoatrial Node Dysfunction and Deafness  
snowflake vitreoretinal degeneration  
Solar Urticaria 
solitary median maxillary central incisor  
Sorsby's fundus dystrophy  
Sotos syndrome 1  
Sotos syndrome 2  
spastic ataxia 1  
spastic ataxia 7 
spastic paraplegia with deafness 
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 1  
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  
temtamy preaxial brachydactyly syndrome  
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  
Urticaria, Familial Localized Heat 
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  
Vissers-Bodmer syndrome  
Vohwinkel syndrome  
Waardenburg syndrome +   
warfarin sensitivity +   
Watson syndrome  
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Weyers acrofacial dysostosis  
WHIM syndrome 1  
white sponge nevus 1  
white sponge nevus 2  
wild-type amyloidosis 
Williams-Beuren syndrome +   
Worth syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
ZTTK syndrome  

Synonyms
Exact Synonyms: CAPS2 ;   MWS ;   UDA syndrome ;   cryopyrin-associated periodic syndrome 2 ;   neutrophilic urticaria ;   urticaria-deafness-amyloidosis syndrome
Primary IDs: MIM:191900
Xrefs: GARD:8472 ;   ICD10CM:M04.2 ;   NCI:C119054 ;   ORDO:575
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11687797 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/11992256 "DO" "DO"

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