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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
nephrotic syndrome +     
pupil disease +     
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
2-aminoadipic 2-oxoadipic aciduria  
22q11 Deletion Syndrome +   
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 4 
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3MC syndrome 1  
3p deletion syndrome 
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
Aase Smith Syndrome 
ABCD syndrome  
abetalipoproteinemia +   
ablepharon macrostomia syndrome  
abnormal pupillary function +   
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
acrorenal syndrome +  
Adducted Thumbs Syndrome +   
adult spinal muscular atrophy  
agammaglobulinemia 4  
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Alagille syndrome  
Alkuraya-Kucinskas syndrome  
alopecia universalis +   
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
Alpers-Huttenlocher syndrome +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
amelogenesis imperfecta type 3C  
Angelman syndrome  
aniridia +   
Anisocoria  
Anisomastia 
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
antithrombin III deficiency  
Antley-Bixler syndrome +   
ARC syndrome +   
arrhythmogenic right ventricular dysplasia 11  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Asymmetric Short Stature Syndrome 
Athabaskan brainstem dysgenesis syndrome  
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital bilateral absence of vas deferens  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital nystagmus 
autosomal recessive craniometaphyseal dysplasia  
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
Autosomal Recessive Robinow Syndrome 2  
autosomal recessive thrombophilia due to protein C deficiency  
autosomal recessive thrombophilia due to protein S deficiency  
autosomal recessive type IV Ehlers-Danlos syndrome 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Axial Mesodermal Dysplasia Spectrum 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Bardet-Biedl syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Beckwith-Wiedemann syndrome +   
Behr syndrome  
Ben Ari Shuper Mimouni Syndrome 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
Bernard-Soulier syndrome +   
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Birk-Landau-Perez Syndrome  
Bjornstad syndrome  
blepharophimosis +   
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Blue Diaper Syndrome 
Boucher-Neuhauser syndrome  
Bowen Syndrome 
Bowen-Conradi syndrome  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brittle Cornea Syndrome +   
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Broad Terminal Phalanges, Familial 
Brown-Vialetto-Van Laere syndrome 1  
Brown-Vialetto-Van Laere syndrome 2  
Burnett Schwartz Berberian Syndrome  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
Carney complex +   
carnitine-acylcarnitine translocase deficiency  
cartilage-hair hypoplasia  
cataract 11 multiple types +   
cataract 13 with adult i phenotype  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 22 multiple types  
cataract 33  
cataract 35 
cataract 36  
cataract 38  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 48  
cataract 9 multiple types  
CATIFA Syndrome  
caudal regression syndrome  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Cerebrofaciothoracic Dysplasia  
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2A2B  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2EE  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
CHARGE syndrome  
Chediak-Higashi syndrome +   
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOPS Syndrome  
choreaacanthocytosis  
Choroidal Effusions +  
chromosome 15q26-qter deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
chromosome 6pter-p24 deletion syndrome 
ciliopathy +   
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
COACH syndrome  
Cockayne syndrome +   
CODAS syndrome  
Coffin-Siris syndrome +   
Cohen syndrome  
cold-induced sweating syndrome +   
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
combined D-2- and L-2-hydroxyglutaric aciduria  
combined malonic and methylmalonic acidemia  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
Compton-North congenital myopathy  
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Corneal Opacities, Cornea Guttata, and Corectopia 
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital dyserythropoietic anemia type Ia  
congenital dyserythropoietic anemia type Ib  
congenital dyserythropoietic anemia type II  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital generalized lipodystrophy +   
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
Congenital Microcoria 
congenital muscular dystrophy 1B 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital nongoitrous hypothyroidism 7  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
congenital sucrase-isomaltase deficiency  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
cortisone reductase deficiency 1  
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
cranioectodermal dysplasia +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
cryptophthalmia +   
cystathioninuria  
cystic fibrosis +   
cystinosis +   
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type  
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
De Hauwere syndrome 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Desanto-Shinawi Syndrome  
Desmosterolosis  
Devriendt syndrome 
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diffuse Mesangial Sclerosis  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dincsoy Salih Patel Syndrome 
distal arthrogryposis type 5D  
distal arthrogryposis type 7  
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Dubowitz syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dyggve-Melchior-Clausen disease +   
dystonia 16  
dystonia 27  
dystonia 5  
early infantile epileptic encephalopathy 82  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
early-onset vitamin B6-dependent epilepsy  
EAST syndrome  
ectodermal dysplasia +   
ectodermal dysplasia 10B  
ectodermal dysplasia 11B  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 15  
ectodermal dysplasia 4  
ectodermal dysplasia 5 
ectodermal dysplasia 6 
ectodermal dysplasia 7  
ectodermal dysplasia 8 
ectodermal dysplasia 9  
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectopia Lentis +   
ectopia lentis with ectopia of pupil  
Ectopia Pupillae  
Ectrodactyly Cardiopathy Dysmorphism 
Egg-Shaped Pupil 
Ehlers-Danlos syndrome cardiac valvular type  
Ehlers-Danlos syndrome classic-like 1  
Ehlers-Danlos syndrome classic-like 2  
Ehlers-Danlos syndrome dermatosparaxis type  
Ehlers-Danlos syndrome kyphoscoliotic type 1  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Ehlers-Danlos syndrome musculocontractural type 1  
Ehlers-Danlos syndrome musculocontractural type 2  
Ehlers-Danlos syndrome spondylodysplastic type 1  
Ehlers-Danlos syndrome spondylodysplastic type 2  
Eiken syndrome  
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
essential fructosuria  
EVEN-PLUS SYNDROME  
exudative vitreoretinopathy +   
FACES Syndrome 
Facial Dysmorphism with Multiple Malformations +   
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
factor V deficiency +   
factor VII deficiency  
factor X deficiency  
factor XII deficiency  
factor XIII deficiency +   
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial adult myoclonic epilepsy 5  
familial apolipoprotein C-II deficiency  
familial benign fleck retina  
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
familial hypertryptophanemia  
familial isolated trichomegaly  
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
familial nephrotic syndrome +   
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
Fanconi renotubular syndrome 2  
Fanconi renotubular syndrome 5  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
Fazio-Londe disease  
Feigenbaum Bergeron Richardson Syndrome 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fetal encasement syndrome  
fibrochondrogenesis +   
fibrochondrogenesis 1  
fibrochondrogenesis 2  
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Frank-Ter Haar syndrome  
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fried Goldberg Mundel Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
Fuhrmann syndrome  
fumarase deficiency  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
gamma-glutamyl transpeptidase deficiency  
gangliosidosis +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
gelatinous drop-like corneal dystrophy  
geleophysic dysplasia 1  
geroderma osteodysplasticum  
giant axonal neuropathy 1  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gitelman syndrome  
glucocorticoid deficiency 1  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
Glutamyl Ribose-5-Phosphate Storage Disease 
glutaric acidemia I  
GNE myopathy  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gordon Holmes syndrome  
Gorlin Chaudhry Moss Syndrome 
GRACILE syndrome  
Grant Syndrome 
gray platelet syndrome +   
Greenberg dysplasia  
Griscelli syndrome +   
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
hereditary arterial and articular multiple calcification syndrome +   
hereditary folate malabsorption  
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hersh Podruch Weisskopk Syndrome 
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-Macdonald Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
hydrophthalmos +   
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
Hyperphosphatasia with Mental Retardation +   
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
Hypomelia Mullerian Duct Anomalies 
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 12  
immunodeficiency 15B  
immunodeficiency 16  
immunodeficiency 17  
immunodeficiency 18  
immunodeficiency 19  
immunodeficiency 20  
immunodeficiency 22  
immunodeficiency 23  
immunodeficiency 24  
immunodeficiency 25  
immunodeficiency 26  
immunodeficiency 27A  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 30  
immunodeficiency 31B  
immunodeficiency 32B  
immunodeficiency 35  
immunodeficiency 37  
immunodeficiency 38  
immunodeficiency 40  
immunodeficiency 41  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 46  
immunodeficiency 48  
immunodeficiency 51  
immunodeficiency 52  
immunodeficiency 53  
immunodeficiency 54  
immunodeficiency 55  
immunodeficiency 56  
immunodeficiency 57  
immunodeficiency 58  
immunodeficiency 59  
immunodeficiency 62  
immunodeficiency 63  
immunodeficiency 64  
immunodeficiency 65  
immunodeficiency 66  
immunodeficiency 69  
immunodeficiency 7  
immunodeficiency 71  
immunodeficiency 72  
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
immunodeficiency 9  
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
infantile liver failure syndrome 1  
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Insulin-Like Growth Factor I, Resistance To  
intellectual developmental disorder with short stature and behavioral abnormalities  
intermediate spinal muscular atrophy  
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
isolated hyperchlorhidrosis  
isolated microphthalmia 1 
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
Isolated Microphthalmia with Corectopia 
Isolated Noncompaction of the Ventricular Myocardium +   
isolated sulfite oxidase deficiency  
Jackson-Weiss syndrome  
Jalili syndrome  
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JMP syndrome  
Johanson-Blizzard syndrome  
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kahrizi syndrome  
Kapur Toriello Syndrome 
karyomegalic interstitial nephritis  
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Kenny-Caffey syndrome type 1  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
keratosis pilaris atrophicans +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Kohlschutter-Tonz syndrome  
Koolen de Vries syndrome  
Kosaki Overgrowth Syndrome  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kufor-Rakeb syndrome  
Kyphomelic Dysplasia 
LADD syndrome  
Lafora disease  
Laron syndrome  
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
late-adult onset retinitis pigmentosa 
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
Lenz-Majewski hyperostotic dwarfism  
lethal congenital contracture syndrome +   
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Light Fixation Seizure Syndrome 
linear nevus sebaceous syndrome +   
lipoid nephrosis  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lowry Maclean syndrome 
Lung Agenesis +   
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
Martsolf syndrome  
Maxillofacial Dysostosis 
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
McPherson Robertson Cammarano Syndrome 
Meckel syndrome 13  
megaconial type congenital muscular dystrophy  
megacystis-microcolon-intestinal hypoperistalsis syndrome  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Michels Caskey Syndrome 
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephaly Albinism Digital Anomalies Syndrome 
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microdontia Hypodontia Short Stature 
microphthalmia +   
microphthalmia with limb anomalies  
Microspherophakia with Hernia 
microvillus inclusion disease  
Miosis +   
MIRAGE SYNDROME  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
MLS syndrome +   
Mobius syndrome +   
MOMES Syndrome 
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mosaic variegated aneuploidy syndrome 3  
Mousa Al din Al Nassar Syndrome 
mucolipidosis II alpha/beta  
mucolipidosis III alpha/beta +   
mucolipidosis III gamma  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
mucosulfatidosis  
mulibrey nanism  
Muller Barth Menger Syndrome 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
multiple pterygium syndrome +   
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
Mydriasis +   
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Native American myopathy  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal diabetes mellitus with congenital hypothyroidism  
neonatal-onset type II citrullinemia  
nephronophthisis +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
Nephrotic Syndrome with Ocular Anomalies 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
nevoid basal cell carcinoma syndrome +   
Nezelof syndrome 
NGLY1-deficiency  
Nijmegen breakage syndrome +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonphotosensitive trichothiodystrophy +   
nonphotosensitive trichothiodystrophy 4  
nonphotosensitive trichothiodystrophy 6  
nonphotosensitive trichothiodystrophy 7  
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 9  
Noonan syndrome 2  
Noonan syndrome with multiple lentigines +   
Norman-Roberts syndrome  
Novak Syndrome 
nuclear type mitochondrial complex I deficiency 1  
nuclear type mitochondrial complex I deficiency 10  
nuclear type mitochondrial complex I deficiency 11  
nuclear type mitochondrial complex I deficiency 13  
nuclear type mitochondrial complex I deficiency 14  
nuclear type mitochondrial complex I deficiency 15  
nuclear type mitochondrial complex I deficiency 16  
nuclear type mitochondrial complex I deficiency 17  
nuclear type mitochondrial complex I deficiency 18  
nuclear type mitochondrial complex I deficiency 19  
nuclear type mitochondrial complex I deficiency 2  
nuclear type mitochondrial complex I deficiency 20  
nuclear type mitochondrial complex I deficiency 21  
nuclear type mitochondrial complex I deficiency 22  
nuclear type mitochondrial complex I deficiency 23  
nuclear type mitochondrial complex I deficiency 24  
nuclear type mitochondrial complex I deficiency 25  
nuclear type mitochondrial complex I deficiency 26  
nuclear type mitochondrial complex I deficiency 27  
nuclear type mitochondrial complex I deficiency 28  
nuclear type mitochondrial complex I deficiency 29  
nuclear type mitochondrial complex I deficiency 3  
nuclear type mitochondrial complex I deficiency 31  
nuclear type mitochondrial complex I deficiency 32  
nuclear type mitochondrial complex I deficiency 33  
nuclear type mitochondrial complex I deficiency 34  
nuclear type mitochondrial complex I deficiency 4  
nuclear type mitochondrial complex I deficiency 5  
nuclear type mitochondrial complex I deficiency 6  
nuclear type mitochondrial complex I deficiency 7  
nuclear type mitochondrial complex I deficiency 8  
nuclear type mitochondrial complex I deficiency 9  
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
oculocutaneous albinism +   
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
Oguchi disease-1  
Oguchi disease-2  
Oliver-McFarlane syndrome  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
optic disc anomalies with retinal and/or macular dystrophy  
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome +   
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
Oslam syndrome 
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 18  
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteoporosis-pseudoglioma syndrome  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
pantothenate kinase-associated neurodegeneration +   
Papillon-Lefevre disease +   
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 6  
Parkinson's disease 7  
Patterson Pseudoleprechaunism Syndrome 
Pelvis-Shoulder Dysplasia 
Pena Shokeir Syndrome Type 2 
Pendred syndrome  
Penoscrotal Transposition 
Pentalogy of Cantrell 
pentosuria  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
permanent neonatal diabetes mellitus +   
peroxisome biogenesis disorder 2B  
Perrault syndrome +   
persistent hyperplastic primary vitreous +   
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHACE Association  
PHARC syndrome  
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. (DO)
Pilotto Syndrome 
Pitt-Hopkins-like syndrome 2  
plasminogen deficiency type I  
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 8  
Podder-Tolmie Syndrome 
POEMS syndrome 
poikiloderma with neutropenia  
Pointer Syndrome 
polycystic kidney disease +   
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
popliteal pterygium syndrome +   
postaxial acrofacial dysostosis  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
Prepapillary Vascular Loops 
primary autosomal recessive microcephaly +   
primary ciliary dyskinesia 38  
primary ciliary dyskinesia 39  
primary ciliary dyskinesia 40  
primary ciliary dyskinesia 41  
primary ciliary dyskinesia 42  
primary ciliary dyskinesia 44  
primary ciliary dyskinesia 45  
Primrose Syndrome  
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
progressive myoclonus epilepsy 10  
progressive myoclonus epilepsy 1A  
progressive myoclonus epilepsy 1B  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
progressive pseudorheumatoid arthropathy of childhood  
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
proprotein convertase 1/3 deficiency  
Proteus syndrome +   
prothrombin deficiency +   
prune belly syndrome +   
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
pseudoxanthoma elasticum +   
Ptosis, Strabismus, and Ectopic Pupils 
Pupillary Membrane, Persistence of 
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyridoxine-dependent epilepsy  
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
recessive dystrophic epidermolysis bullosa  
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
reticular dysgenesis  
Retinal Dysplasia +   
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa 81  
retinitis pigmentosa with or without situs inversus  
rhizomelic chondrodysplasia punctata +   
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Riddle syndrome  
right atrial isomerism  
rigid spine muscular dystrophy 1  
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 1  
Roberts syndrome  
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
salt and pepper syndrome  
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say Syndrome 
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schimke immuno-osseous dysplasia  
Schinzel-Giedion Syndrome  
Schmid-Fraccaro Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Jampel syndrome 1  
sclerosteosis 1  
sclerosteosis 2  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
short-rib thoracic dysplasia 10 with or without polydactyly  
short-rib thoracic dysplasia 11 with or without polydactyly  
short-rib thoracic dysplasia 13 with or without polydactyly  
short-rib thoracic dysplasia 14 with polydactyly  
short-rib thoracic dysplasia 18 with polydactyly  
short-rib thoracic dysplasia 19 with or without polydactyly  
short-rib thoracic dysplasia 6 with or without polydactyly  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
short-rib thoracic dysplasia 9 with or without polydactyly  
Shprintzen Omphalocele Syndrome 
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simpson-Golabi-Behmel syndrome type 2  
sitosterolemia +   
Sjogren-Larsson syndrome +   
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 7 
spastic ataxia 8  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 24  
spermatogenic failure 25  
spermatogenic failure 26  
spermatogenic failure 27  
spermatogenic failure 28  
spermatogenic failure 29  
spermatogenic failure 30  
spermatogenic failure 31  
spermatogenic failure 33  
spermatogenic failure 34  
spermatogenic failure 35  
spermatogenic failure 37  
spermatogenic failure 38  
spermatogenic failure 39  
spermatogenic failure 40  
spermatogenic failure 41  
spermatogenic failure 42  
spermatogenic failure 43  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
spinal muscular atrophy with progressive myoclonic epilepsy  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
syndromic microphthalmia 9  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Tamari Goodman Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Thakker Donnai Syndrome 
thalassemia +   
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
thrombocytopenia-absent radius syndrome  
Thymic Aplasia with Fetal Death 
Tollner Horst Manzke Syndrome 
Tonic Pupil +  
torsion dystonia 17 
torsion dystonia 2  
torsion dystonia with onset in infancy  
total internal ophthalmoplegia 
Townes-Brocks syndrome +   
transient bullous dermolysis of the newborn  
transient infantile liver failure  
Treacher Collins syndrome 2  
Treacher Collins syndrome 3  
Tricho-Dento-Osseous Syndrome 1 
trichohepatoenteric syndrome +   
trichothiodystrophy +   
trimethylaminuria  
Triphalangeal Thumbs Brachyectrodactyly 
triple-A syndrome  
Trisomy 18-Like Syndrome 
Troyer syndrome  
Tsukahara Syndrome  
Ullrich congenital muscular dystrophy +   
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
UV-sensitive syndrome +   
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
ventriculomegaly - cystic kidney disease  
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
Vici syndrome  
visceral heterotaxy +   
visual impairment and progressive phthisis bulbi  
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warsaw breakage syndrome  
Weaver syndrome  
Weill-Marchesani syndrome +   
Werner syndrome +   
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winter Harding Hyde Syndrome 
Wolcott-Rallison syndrome  
Wolf-Hirschhorn syndrome  
Wolfram syndrome 1  
Wolfram syndrome 2  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
xeroderma pigmentosum +   
XFE progeroid syndrome  
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome +   
ZTTK Syndrome  

Synonyms
Exact Synonyms: congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome ;   microcoria and congenital nephrotic syndrome ;   microcoria-congenital nephrosis syndrome ;   microcoria-congenital nephrotic syndrome
Primary IDs: MESH:C537185
Alternate IDs: OMIM:609049
Xrefs: GARD:9420 ;   NCI:C128145 ;   ORDO:2670
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15367484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15372515 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.