Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
syndrome +     
visual epilepsy +     
16p11.2 Deletion Syndrome  
16Q24.3 Microdeletion Syndrome  
2-aminoadipic 2-oxoadipic aciduria  
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
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 +   
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
47, XYY Syndrome  
49,XXXXX Syndrome 
5-Nucleotidase Syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome 
Aarskog syndrome +   
Aase Smith Syndrome 
ABCD syndrome  
Abderhalden-Kaufmann-Lignac Syndrome 
abetalipoproteinemia +   
ablepharon macrostomia syndrome  
Abruzzo-Erickson syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
aceruloplasminemia  
achalasia microcephaly syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
acheiropody  
Achenbach syndrome 
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
Ackerman Syndrome 
acrocallosal syndrome +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acromegaloid Facial Appearance Syndrome 
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
Acrootoocular Syndrome 
Acropectoral Syndrome 
Acrorenal Mandibular Syndrome 
acrorenal syndrome +  
acute chest syndrome  
Acute Coronary Syndrome  
Acute Radiation Syndrome 
Acute Retroviral Syndrome 
Adams Nance Syndrome 
Adams-Oliver syndrome +   
Adams-Stokes Syndrome 
Adducted Thumbs Syndrome +   
Adie syndrome 
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
adult spinal muscular atrophy  
ADULT syndrome  
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 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome 
Aicardi-Goutieres syndrome +   
Akaba Hayasaka Syndrome 
Akesson Syndrome 
akinetic mutism 
Aksu von Stockhausen Syndrome 
Al Awadi Syndrome  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Al-Raqad Syndrome  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alagille syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Albinism Deafness Syndrome 
Alcohol Withdrawal Seizures  
Aldred Syndrome 
Alice in Wonderland Syndrome 
Alien Hand Syndrome 
Alkuraya-Kucinskas syndrome  
Allan-Herndon-Dudley syndrome  
Allanson Pantzar McLeod Syndrome +   
Aloi Tomasini Isaia Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Alpers-Huttenlocher syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
alpha thalassemia-X-linked intellectual disability syndrome  
alpha-2-plasmin inhibitor deficiency  
Alport syndrome +   
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos 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  
Ameloonychohypohidrotic Syndrome 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
aminoglycoside-induced deafness  
AMME complex  
Amniotic Band Syndrome +  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
antisynthetase syndrome  
antithrombin III deficiency  
Antley-Bixler syndrome +   
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aortic Arch Syndromes +   
aplasia of lacrimal and salivary glands  
apparent mineralocorticoid excess syndrome  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
ARC syndrome +   
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome  
Arnold Stickler Bourne Syndrome 
arrhythmogenic right ventricular dysplasia 11  
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthrogryposis, Mental Retardation, and Seizures  
Arts syndrome  
aseptic meningitis  
Asperger syndrome  
asphyxiating thoracic dystrophy +   
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Asrar Facharzt Haque Syndrome  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Athabaskan brainstem dysgenesis syndrome  
Atkin Syndrome  
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
Au-Kline Syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculocondylar Syndrome +   
Ausems Wittebol-Post Hennekam Syndrome 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
Autonomic Dysreflexia 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant mental retardation 50  
autosomal dominant non-syndromic intellectual disability 6  
autosomal dominant nonsyndromic deafness +   
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 cutis laxa type III +   
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 limb-girdle muscular dystrophy type 2P  
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 spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 19  
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 +   
autosomal-mitochondrial sensorineural deafness  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Ayazi Syndrome 
Ayme-Gripp syndrome  
Baastrup's syndrome 
BADS syndrome 
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bahemuka Brown syndrome 
Bainbridge-Ropers Syndrome  
Baker Vinters Syndrome 
Baker-Gordon Syndrome  
Baller-Gerold syndrome  
Bangstad Syndrome 
Banki Syndrome 
Banti's Syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease +   
Bartter disease type 4A  
Bartter disease type 4b  
Basaran Yilmaz Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
basilar artery insufficiency +  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Battered Child Syndrome 
Bazex-Dupre-Christol Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Beardwell Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Becker Nevus Syndrome 
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Beemer-Langer syndrome  
Behcet's disease +   
Behr syndrome  
Behrens Baumann Dust Syndrome 
Bell's palsy  
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
Bent Bone Dysplasia Syndrome  
Berk-Tabatznik Syndrome 
Bernard-Soulier syndrome +   
beta-ketothiolase deficiency  
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
Birk-Barel syndrome  
Birk-Landau-Perez Syndrome  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Bloom syndrome  
Blue Diaper Syndrome 
blue drum syndrome +  
Blue Rubber Bleb Nevus Syndrome  
blue toe syndrome 
Bobble-Head Doll Syndrome 
Boerhaave Syndrome 
Bohring Syndrome  
Bonneau Syndrome 
Book Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
brachial plexus neuritis +   
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
Brain-Lung-Thyroid Syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
Brown-Vialetto-Van Laere syndrome 1  
Brown-Vialetto-Van Laere syndrome 2  
Bruck syndrome +   
Brugada syndrome +   
Brunner syndrome  
Brunoni Syndrome 
Budd-Chiari syndrome +   
Bullous Dystrophy, Hereditary Macular Type 
Burn-McKeown syndrome  
Burnett Schwartz Berberian Syndrome  
burning mouth syndrome +  
Buschke-Ollendorff syndrome  
C syndrome  
CAHMR Syndrome 
Calabro Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
Camptodactyly Syndrome Guadalajara Type +  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Canavan disease  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Capgras syndrome 
capillary leak syndrome +   
Caplan's syndrome 
CAPOS Syndrome  
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
Cardiac-Urogenital Syndrome  
Cardio-Renal Syndrome  
Cardiocranial Syndrome 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
carnitine-acylcarnitine translocase deficiency  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
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  
Cataract Ataxia Deafness 
Cataract Microcornea Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
CATIFA Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Central Cord Syndrome 
Cephalin Lipidosis 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay  
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellofaciodental Syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
cerebral creatine deficiency syndrome +   
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Cervical Rib Syndrome +  
Chang Davidson Carlson Syndrome 
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 1E  
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 2J  
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  
Charcot-Marie-Tooth disease X-linked recessive 4  
CHARGE syndrome  
Chediak-Higashi syndrome +   
Chemke Oliver Mallek Syndrome 
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
CHILD syndrome  
childhood onset epileptic encephalopathy +   
CHIME syndrome  
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
chondrodysplasia punctata +   
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOPS Syndrome  
choreaacanthocytosis  
Choroid Plexus Calcification with Mental Retardation 
chromosomal deletion syndrome +   
chromosomal duplication syndrome +   
Chromosome 13q Deletion Syndrome +   
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 2q31.2 deletion syndrome 
Chromosome 3 Duplication Syndrome 
chromosome 3q29 microdeletion syndrome 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
Chromosome 6 Ring Syndrome 
Chromosome 7 Ring Syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
Chromosome Xp11.3 Deletion Syndrome  
Chromosome Xq Duplication Syndrome 
Chromosome Xq28 Duplication Syndrome 
chronic atrial and intestinal dysrhythmia  
chronic fatigue syndrome  
Chudley-Mccullough syndrome  
Chudley-Rozdilsky Syndrome 
ciliopathy +   
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK syndrome  
CLAPO Syndrome  
Clark-Baraitser syndrome  
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
cleft palate-lateral synechia syndrome  
Cleidorhizomelic Syndrome 
CLOVES syndrome  
COACH syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
CODAS syndrome  
Coffin Syndrome 1 
Coffin-Lowry syndrome  
Coffin-Siris syndrome +   
Cogan syndrome +   
Cohen syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Cole-Carpenter syndrome +   
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
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 40  
combined oxidative phosphorylation deficiency 41  
combined oxidative phosphorylation deficiency 42  
combined oxidative phosphorylation deficiency 43  
combined oxidative phosphorylation deficiency 45  
combined oxidative phosphorylation deficiency 46  
combined oxidative phosphorylation deficiency 47  
combined oxidative phosphorylation deficiency 48  
combined oxidative phosphorylation deficiency 49  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 50  
combined oxidative phosphorylation deficiency 51  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
Combined Pituitary Hormone Deficiency, 3  
compartment syndrome +   
complex regional pain syndrome +  
Compton-North congenital myopathy  
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
Congenital Bone Marrow Failure Syndromes +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
congenital central hypoventilation syndrome  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness with Total Albinism 
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 Ectodermal Dysplasia with Hearing Loss 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital generalized lipodystrophy +   
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
congenital hereditary endothelial dystrophy of cornea  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
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 muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
Congenital Muscular Dystrophy plus Mental Retardation 
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 nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital nongoitrous hypothyroidism 7  
Congenital Pain Insensitivity +   
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  
Congenital Symmetric Circumferential Skin Creases +   
Conn's syndrome 
Copper Deficiency, Familial Benign 
Corneal Cerebellar Syndrome 
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical deafness +   
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
cortisone reductase deficiency 1  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Cowden-Like Syndrome  
Coxoauricular Syndrome 
Cracked Tooth Syndrome 
Crane-Heise Syndrome 
Cranioacrofacial Syndrome 
cranioectodermal dysplasia +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniosynostosis 2  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Cri-du-Chat syndrome +   
Crigler-Najjar syndrome +   
Crome Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crush Syndrome  
Cryopyrin-Associated Periodic Syndromes +   
Cryptomicrotia Brachydactyly Syndrome 
Cubital Tunnel Syndrome 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Currarino syndrome  
Cushing Syndrome +   
Cutis Laxa-Marfanoid Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Cyprus Facial Neuromusculoskeletal Syndrome 
cystathioninuria  
cystic fibrosis +   
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
cystinosis +   
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Daentl Towsend Siegel Syndrome 
Dahlberg Borer Newcomer Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
Daneman Davy Mancer Syndrome 
Davenport Donlan Syndrome 
Davis Lafer Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deafness Oligodontia Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness, dystonia, and cerebral hypomyelination  
Deafness, High-Frequency Sensorineural, X-Linked 
Deafness, Progressive High-Tone Neural 
Deafness, with Smith-Magenis Syndrome  
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deal Barratt Dillon Syndrome 
DEEAH Syndrome  
Delpire-McNeill Syndrome  
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Ridges, Nelson Syndrome 
Desanto-Shinawi Syndrome  
developmental delay and seizures with or without movement abnormalities  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diarrhea prodrome + Hemolytic-Uremic Syndrome 
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
Diets-Jongmans Syndrome  
diffuse infiltrative lymphocytosis syndrome 
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
Dincsoy Salih Patel Syndrome 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal arthrogryposis type 5D  
distal arthrogryposis type 6 
distal arthrogryposis type 7  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis 3, Autosomal Recessive  
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Drachtman Weinblatt Sitarz Syndrome 
Dropped Head Syndromes 
Drug Hypersensitivity Syndrome  
dry eye syndrome +   
Duane retraction syndrome +   
Duane-radial ray syndrome  
Dubowitz syndrome  
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  
Duker Weiss Siber syndrome 
Duplication 4p Syndrome 
Dursun Syndrome  
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dykes Markes Harper Syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
dysplastic nevus syndrome +   
dystonia 16  
dystonia 27  
dystonia 5  
Eagle Syndrome 
early infantile epileptic encephalopathy 82  
early infantile epileptic encephalopathy 9  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
early-onset vitamin B6-dependent epilepsy  
EAST syndrome  
A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)
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 and Neurosensory Deafness 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
ectopia lentis with ectopia of pupil  
Ectrodactyly-Cleft Palate Syndrome 
EDICT Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
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  
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Elsahy-Waters syndrome  
Emanuel Syndrome 
empty sella syndrome +   
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
enterokinase deficiency  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Ermine Phenotype 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
essential fructosuria  
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exfoliation syndrome  
Experimental Seizures  
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
factor V deficiency +   
factor VII deficiency  
factor X deficiency  
factor XII deficiency  
factor XIII deficiency +   
Failed Back Surgery Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial adult myoclonic epilepsy 5  
Familial Antiphospholipid Syndrome 
familial apolipoprotein C-II deficiency  
familial benign fleck retina  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Cyclic Vomiting Syndrome  
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
Familial Hyperchylomicronemia Syndrome  
familial hypertryptophanemia  
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
familial isolated trichomegaly  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
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  
Fanconi syndrome +   
Fara Chlupackova Syndrome 
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  
Faye-Petersen Ward Carey Syndrome 
Fazio-Londe disease  
Feigenbaum Bergeron Richardson Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Feline Acquired Immunodeficiency Syndrome 
Felty's syndrome 
Female Athlete Triad Syndrome 
Femoral Facial Syndrome 
Femur Fibula Ulna Syndrome 
fetal akinesia deformation sequence 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 alcohol syndrome  
fetal encasement syndrome  
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome +   
fibrochondrogenesis 1  
fibrochondrogenesis 2  
fibrogenesis imperfecta ossium 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitz-Hugh-Curtis Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-Guilbert Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Floating-Harbor syndrome  
FLOTCH Syndrome 
Flynn Aird Syndrome 
focal dermal hypoplasia +   
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Foix Chavany Marie Syndrome 
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Foster-Kennedy syndrome 
Fountain Syndrome 
Fowler Christmas Chapple Syndrome 
fragile X syndrome +   
Franceschini Vardeu Guala syndrome 
Frank-Ter Haar syndrome  
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fraser-Like Syndrome 
Frasier syndrome  
Freeman-Sheldon syndrome +   
Freire-Maia Odontotrichomelic Syndrome 
Frenkel Russe Syndrome 
Frey syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Frints De Smet Fabry Fryns Syndrome 
Frontonasal Dysplasia 3  
Frontoocular Syndrome 
Fryns Hofkens Fabry Syndrome  
Fryns Syndrome  
Fuchs' heterochromic uveitis 
Fuhrmann syndrome  
fumarase deficiency  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
Game Friedman Paradice Syndrome 
gamma-glutamyl transpeptidase deficiency  
Gamstorp-Wohlfart syndrome  
gangliosidosis +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gay Feinmesser Cohen Syndrome 
gelatinous drop-like corneal dystrophy  
geleophysic dysplasia 1  
Gemignani Syndrome 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
geroderma osteodysplasticum  
Gerstmann syndrome 
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
giant axonal neuropathy 1  
Gilles de la Tourette syndrome +   
Gillespie syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
glucocorticoid deficiency 1  
GLUT1 Deficiency Syndrome  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
glutaric acidemia I  
Glycosylphosphatidylinositol Biosynthesis Defect 16  
GNE myopathy  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Gonadal Dysgenesis, XX Type, with Deafness +   
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Good syndrome 
Goodpasture syndrome +   
Gordon Holmes syndrome  
Gorham's disease +  
Gorlin Bushkell Jensen Syndrome 
Gorlin Chaudhry Moss Syndrome 
GRACILE syndrome  
Graham Boyle Troxell Syndrome 
Granddad Syndrome 
Grange Syndrome  
Grant Syndrome 
gray platelet syndrome +   
Green Sandford Davison Syndrome 
Greenberg dysplasia  
Greig cephalopolysyndactyly syndrome  
Griscelli syndrome +   
Groll Hirschowitz Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
HAIR-AN syndrome 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +  
Hamamy Syndrome  
Hamanishi Ueba Tsuji Syndrome 
Hamano Tsukamoto Syndrome 
Hammer Toe Syndrome  
Hand-Arm Vibration Syndrome 
Hand-Foot Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
Hantavirus hemorrhagic fever with renal syndrome +   
hantavirus pulmonary syndrome 
Hapnes Boman Skeie Syndrome 
Hardikar Syndrome 
Harel-Yoon Syndrome  
Harlequin Syndrome 
Harrod Doman Keele Syndrome 
Hashimoto-Pritzker Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
HEART AND BRAIN MALFORMATION SYNDROME  
Hecht Scott Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
HELIX syndrome  
HELLP syndrome  
hemolytic-uremic syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
Hennekam syndrome +   
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary alpha tryptasemia syndrome 
hereditary arterial and articular multiple calcification syndrome +   
hereditary breast ovarian cancer syndrome  
hereditary desmoid disease  
hereditary folate malabsorption  
hereditary fructose intolerance syndrome  
Hereditary Neoplastic Syndromes +   
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
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  
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
herpes zoster oticus 
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hhhh Syndrome 
HID Syndrome  
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
high pressure neurological syndrome 
High-Frequency Hearing Loss  
Hirata disease 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
HIV Enteropathy 
HIV Wasting Syndrome  
HIV-Associated Lipodystrophy Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Horner's syndrome +  
Hoyeraal Hreidarsson Syndrome  
Humeroradial Multiple Synostosis Syndrome 
Hunt's Syndrome 
Hunter Carpenter Macdonald Syndrome 
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Huntington's Disease-Like Syndrome  
HUPRA Syndrome  
hyaline fibromatosis syndrome  
hydrolethalus syndrome +   
Hydroxylysinuria 
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
Hyper-Beta-Alaninemia 
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
hypereosinophilic syndrome +   
hyperferritinemia-cataract syndrome  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia due to adenosine kinase deficiency  
hypermobility syndrome 
Hyperphosphatasia with Mental Retardation +   
Hyperphosphatemia, Polyuria, and Seizures 
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
hypertension and brachydactyly syndrome  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
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  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation +   
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-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatasia +   
hypoplastic left heart syndrome +   
hypoplastic or aplastic tibia with polydactyly  
Hypospadias-Mental Retardation Syndrome 
hypothyroidism +   
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis and Male Hypogonadism 
Ichthyosis Cheek Eyebrow Syndrome 
ichthyosis follicularis-alopecia-photophobia syndrome 1  
Ichthyosis Prematurity Syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
Iida Kannari Syndrome 
Iliotibial Band Syndrome 
IMAGe syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immune Reconstitution Inflammatory Syndrome 
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 61  
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 +   
inappropriate ADH syndrome +   
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +   
Incomplete Sertoli Cell-Only Syndrome 
Indolylacroyl Glycinuria with Mental Retardation 
infancy electroclinical syndrome +   
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
infantile liver failure syndrome +   
infantile liver failure syndrome 1  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Insulin-Like Growth Factor I Deficiency  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intermediate spinal muscular atrophy  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Irons Bhan Syndrome 
irritable bowel syndrome  
Islet Cell Tumor Syndrome  
Isodicentric Chromosome 15 Syndrome  
isolated cleft palate  
isolated hyperchlorhidrosis  
isolated microphthalmia 1 
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Isotretinoin Embryopathy Like Syndrome 
IVIC syndrome  
Jaccoud's syndrome 
Jackson-Weiss syndrome  
Jaffer Beighton Syndrome 
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
Jarcho-Levin Syndrome  
Jet Lag Syndrome 
JMP syndrome  
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Johnson Neuroectodermal Syndrome 
Johnston Aarons Schelley Syndrome 
Jones Hersh Yusk Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome  
Judge Misch Wright Syndrome 
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Jung Wolff Back Stahl Syndrome 
juvenile polyposis syndrome +   
Kabuki syndrome +   
Kagami-Ogata syndrome  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kallmann syndrome +   
Kantaputra Gorlin Syndrome 
Kaplan Plauchu Fitch Syndrome 
Kaplowitz Bodurtha syndrome 
Kapur Toriello Syndrome 
Karak Syndrome  
Karandikar Maria Kamble Syndrome 
karyomegalic interstitial nephritis  
Kasabach-Merritt Syndrome +   
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
Kawasaki disease  
KBG syndrome  
Kearns-Sayre syndrome  
Keipert syndrome  
Kennerknecht Sorgo Oberhoffer Syndrome 
Kennerknecht Vogel Syndrome 
Kenny-Caffey syndrome +   
Kenny-Caffey syndrome type 1  
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
keratosis pilaris atrophicans +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Kilquist Syndrome  
King Denborough Syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleine-Levin syndrome 
Kleiner Holmes Syndrome 
Klinefelter syndrome  
Klippel-Feil syndrome +   
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Klippel-Trenaunay syndrome +   
Kluver-Bucy syndrome +  
Knobloch Syndrome  
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter-Tonz syndrome  
Konigsmark Knox Hussels Syndrome 
Koone Rizzo Elias Syndrome 
Kosaki Overgrowth Syndrome  
Kosztolanyi Syndrome 
Kotzot-Richter Syndrome 
Kousseff Nichols Syndrome 
Kowarski Syndrome  
Kozlowski Brown Hardwick Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kozlowski Warren Fisher Syndrome 
Kozlowski-Krajewska Syndrome 
Krasnow Qazi Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kufor-Rakeb syndrome  
Kumar Levick Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuster Syndrome 
Kuzniecky Andermann Syndrome 
kwashiorkor 
Lachiewicz Sibley Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Lafora disease  
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Lambotte Syndrome 
Landau-Kleffner syndrome  
Landy Donnai Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
Laryngo Onycho Cutaneous Syndrome  
late-adult onset retinitis pigmentosa 
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
lateral medullary syndrome +   
lateral meningocele syndrome  
Laurence Prosser Rocker Syndrome 
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Lazy Leukocyte 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  
Leber plus disease +   
Legius Syndrome  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Li-Fraumeni syndrome +   
Liang-Wang Syndrome  
Liberfarb Syndrome  
Liddle syndrome +   
Light Fixation Seizure Syndrome 
Limb-Mammary Syndrome  
Lissencephaly 3 +   
Lissencephaly 4  
locked-in syndrome 
long QT syndrome +   
loose anagen hair syndrome +   
Lopes Gorlin Syndrome 
Lopes-Maciel-Rodan Syndrome  
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Lubs Syndrome 
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Luscan-Lumish syndrome  
Lutembacher's syndrome 
Lutz Richner Landolt Syndrome 
lymphedema-distichiasis syndrome +   
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Lynch Lee Murday syndrome 
Lyngstadaas Syndrome 
Lysine Malabsorption Syndrome 
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
macrocephaly-autism syndrome  
Macrophage Activation Syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Maffucci syndrome 
Majeed Syndrome  
Malabsorption Syndromes +   
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malignant Carcinoid Syndrome +  
Mallory-Weiss Syndrome 
Mammary-Digital-Nail Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Manz Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Hypermobility Syndrome  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
Marshall syndrome +   
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martinez-Frias Syndrome 
Martsolf syndrome  
MASA syndrome  
MASS Syndrome  
Massa Casaer Ceulemans Syndrome 
MAST syndrome  
Masters-Allen syndrome 
Maternally Inherited Leigh Syndrome  
Mauriac Syndrome  
May-Thurner Syndrome 
McCune Albright syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
McPherson Robertson Cammarano Syndrome 
Meacham Winn Culler Syndrome  
Meckel syndrome 13  
Meckel-Like Cerebrorenodigital Syndrome 
meconium aspiration syndrome  
MECP2 duplication syndrome  
Medial Medullary Syndrome 
Medial Tibial Stress Syndrome 
median arcuate ligament syndrome 
MEDNIK syndrome  
Meester-Loeys syndrome  
megaconial type congenital muscular dystrophy  
megacystis-microcolon-intestinal hypoperistalsis syndrome  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Mehta Lewis Patton Syndrome 
Meier-Gorlin 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  
Meige syndrome 
Meigs Syndrome 
melanoma and neural system tumor syndrome  
Melanoma-Pancreatic Cancer Syndrome  
MELAS syndrome +   
Melhem Fahl Syndrome 
Melkersson-Rosenthal syndrome 
MEND syndrome  
Mengel Konigsmark Syndrome 
Menke-Hennekam Syndrome +   
Menkes disease +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental Retardation Smith Fineman Myers Type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type 
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Mental Retardation, Autosomal Recessive 8 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a Type  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
MERRF/MELAS Overlap Syndrome  
Mesomelia-Synostoses Syndrome 
Metabolic Syndrome +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Michels Caskey Syndrome 
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Macrotia, and Mental Retardation 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microphthalmia and Mental Deficiency 
microphthalmia with limb anomalies  
microvillus inclusion disease  
Mid-Tone Neural Deafness 
middle lobe syndrome  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Miles-Carpenter syndrome +   
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell-Riley 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  
mixed connective tissue disease  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
MLS syndrome +   
Mobius syndrome +   
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
monofixation syndrome 
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome +   
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mosaic variegated aneuploidy syndrome 3  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
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  
Muenke syndrome  
Muir-Torre syndrome  
Mulchandani-Bhoj-Conlin syndrome 
mulibrey nanism  
Muller Barth Menger Syndrome 
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple chemical sensitivity  
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 epiphyseal dysplasia with myopia and deafness  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome +   
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 +   
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
muscular dystrophy-dystroglycanopathy +   
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
myelodysplastic syndrome +   
myeloid leukemia associated with Down Syndrome  
MYH-9 related disease +   
myofascial pain syndrome +   
myofibrillar myopathy 10  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Myopathy, Cataract, Hypogonadism Syndrome 
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Naguib-Richieri-Costa Syndrome 
nail-patella syndrome +   
Nakajo Syndrome 
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nasu-Hakola disease  
Nathalie Syndrome 
Native American myopathy  
Nelson syndrome 
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 abstinence syndrome 
neonatal diabetes mellitus with congenital hypothyroidism  
neonatal-onset type II citrullinemia  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
nephronophthisis +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrotic syndrome +   
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  
nerve compression syndrome +   
Nestor-Guillermo Progeria Syndrome  
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
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 cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
neurooculocardiogenitourinary syndrome  
Neutropenic Enterocolitis  
Nezelof syndrome 
NF1 Microduplication Syndrome 
NGLY1-deficiency  
Nguyen Syndrome 
Nicolaides Baraitser Syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Nijmegen breakage syndrome +   
Nisch syndrome  
Nizon-Isidor Syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome 
non-syndromic intellectual disability +   
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
nonphotosensitive trichothiodystrophy +   
nonphotosensitive trichothiodystrophy 4  
nonphotosensitive trichothiodystrophy 6  
nonphotosensitive trichothiodystrophy 7  
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 9  
Nonsyndromic Sensorineural Hearing Loss +   
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 35  
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  
O'Donnell Pappas Syndrome  
O'Donnell-Luria-Rodan Syndrome  
Obesity Hypoventilation Syndrome 
Occipital Cortical Malformations  
ocular albinism with sensorineural deafness  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
oculocutaneous albinism +   
Oculodental Syndrome Rutherfurd Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Oguchi disease-1  
Oguchi disease-2  
Ohdo syndrome +   
OI/EDS Combined Syndrome  
Okur-Chung Neurodevelopmental Syndrome  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
Omenn syndrome  
Onat Syndrome 
Onychotrichodysplasia and Neutropenia 
Opitz Reynolds Fitzgerald syndrome 
Opitz-GBBB syndrome +   
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 10  
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
optic disc anomalies with retinal and/or macular dystrophy  
ornithine translocase deficiency  
orofacial cleft +   
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  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
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  
Osteolysis Syndrome, Recessive 
Osteopenic Nonfracture Syndrome 
osteoporosis-pseudoglioma syndrome  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
ovarian hyperstimulation syndrome  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paganini-Miozzo syndrome  
Pagon Stephan Syndrome 
Paine Syndrome 
Palant Cleft Palate Syndrome 
palindromic rheumatism 
Pallister Killian Syndrome  
Pallister W Syndrome 
Pallister-Hall syndrome +   
Palmer Pagon Syndrome 
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
Pancoast tumor +  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
pantothenate kinase-associated neurodegeneration +   
PAPA syndrome  
Papillon-Lefevre disease +   
Paragangliomas with Sensorineural Hearing Loss  
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
parastremmatic dwarfism  
PARC Syndrome 
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  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome  
Partial Duplication 15q Syndrome 
partial fetal alcohol syndrome 
Partial Trisomy 3q Syndrome 
Partington Anderson Syndrome 
Partington syndrome  
Pascual Castroviejo Syndrome 
Pashayan Syndrome 
Patau syndrome  
Patel Bixler Syndrome 
Patella Hypoplasia Mental Retardation 
patellofemoral pain syndrome 
Patterson Pseudoleprechaunism Syndrome 
Patterson Stevenson Syndrome  
Pavone Fiumara Rizzo Syndrome 
Pearson syndrome  
peeling skin syndrome +   
Pellagra like Syndrome 
Pendred syndrome  
pentosuria  
Penttinen-Aula Syndrome  
periodic limb movement disorder 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Perlman syndrome  
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
peroxisome biogenesis disorder 2B  
Perrault syndrome +   
Perry syndrome  
persian gulf syndrome  
persistent fetal circulation syndrome  
persistent Mullerian duct syndrome  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Peutz-Jeghers syndrome  
PFAPA Syndrome  
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Rockelein Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
Pheochromocytoma Islet Cell Tumor Syndrome 
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierson syndrome  
pigment dispersion syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Pilarowski-Bjornsson Syndrome  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pitt-Hopkins-like syndrome 2  
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
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  
Plica syndrome 
Plummer-Vinson Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
poikiloderma with neutropenia  
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Poland syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydactyly Myopia Syndrome 
Polyendocrine-Polyneuropathy Syndrome  
Polyosteolysis-Hyperostosis Syndrome 
popliteal pterygium syndrome +   
Porcine Postweaning Multisystemic Wasting Syndrome  
Porcine Reproductive and Respiratory Syndrome  
PORETTI-BOLTSHAUSER SYNDROME  
post-cardiac arrest syndrome 
Post-Concussion Syndrome 
post-thrombotic syndrome 
postaxial acrofacial dysostosis  
postcholecystectomy syndrome 
Posterior Leukoencephalopathy Syndrome  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
postural orthostatic tachycardia syndrome  
Potter's syndrome 
Poult Enteritis Mortality Syndrome 
Powell Chandra Saal Syndrome 
Powell Venencie Gordon syndrome 
Ppm-X Syndrome 
Prader-Willi syndrome +   
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
Preeyasombat Varavithya Syndrome 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Premature Ovarian Failure 10  
Presbycusis +   
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome 
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
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  
primary coenzyme Q10 deficiency 9  
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
Primrose Syndrome  
progeria +   
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 Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
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 Nephropathy with Deafness 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive osseous heteroplasia  
progressive pseudorheumatoid arthropathy of childhood  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Propofol Infusion Syndrome  
proprotein convertase 1/3 deficiency  
Proteasome-Associated Autoinflammatory Syndromes +   
prothrombin deficiency +   
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
proximal symphalangism +   
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Pseudo-Zellweger Syndrome  
Pseudoaminopterin Syndrome 
pseudobulbar palsy +   
Pseudouridinuria and Mental Defect 
pseudoxanthoma elasticum +   
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyridoxine-dependent epilepsy  
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Radio Renal Syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
RASopathy +   
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
recessive dystrophic epidermolysis bullosa  
Recombinant Chromosome 8 Syndrome 
Refeeding Syndrome 
Reginato Schiapachasse Syndrome 
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
renal hypomagnesemia 5 with ocular involvement  
Renal Nutcracker Syndrome 
restless legs syndrome +   
reticular dysgenesis  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome  
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 84  
retinitis pigmentosa 85  
retinitis pigmentosa 88  
retinitis pigmentosa 90  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Reynolds Syndrome  
Rh deficiency syndrome  
rhizomelic chondrodysplasia punctata +   
Rhizomelic Syndrome 
RHYNS Syndrome  
Richards-Rundle Syndrome 
Richieri Costa Da Silva Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Richter's syndrome 
Riddle syndrome  
Ridges-off-the-end Syndrome 
right atrial isomerism  
rigid spine muscular dystrophy 1  
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Riley-Day syndrome +   
Ring Chromosome 14 Syndrome 
Ring Chromosome 20 Syndrome  
Ring Chromosome 4 Syndrome 
Ritscher-Schinzel syndrome 1  
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow Sorauf Syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Rombo Syndrome 
Rommen Mueller Sybert Syndrome 
Rosenthal-Kloepfer Syndrome 
Rosselli-Gulienetti Syndrome 
Rothmund-Thomson syndrome +   
Rowley-Rosenberg Syndrome 
Roy Maroteaux Kremp Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein Taybi like Syndrome  
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Rudd Klimek Syndrome 
Rudiger Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Churesigaew Myhre Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Agenesis Syndrome 
SADDAN  
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan syndrome 
Salcedo Syndrome 
Saldino-Noonan syndrome  
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Samson Gardner Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandestig-Stefanova Syndrome  
Sandhaus Ben-Ami Syndrome 
Sandifer Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Sao Paulo MCA/MR Syndrome 
SAPHO syndrome  
SATB2-associated syndrome  
Satoyoshi Syndrome 
Saul Wilkes Stevenson syndrome 
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
Schimke immuno-osseous dysplasia  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schlegelberger Grote Syndrome 
Schmid-Fraccaro Syndrome  
Schnitzler syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schopf-Schulz-Passarge syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schuurs-Hoeijmakers syndrome  
Schwartz Cohen-Addad Lambert Syndrome 
Schwartz-Jampel syndrome 1  
Schwartz-Lelek Syndrome  
Schweitzer Kemink Graham Syndrome 
scimitar syndrome +   
Sclerosing Bone Dysplasia, Mental Retardation 
sclerosteosis 1  
sclerosteosis 2  
Scott syndrome  
sea-blue histiocytosis  
seasonal affective disorder 
Seaver Cassidy Syndrome 
Seckel syndrome +   
Seckel Syndrome 3 
Seckel syndrome 4  
Second Metatarsal-Metacarpal Syndrome 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
septooptic dysplasia +   
Seres-Santamaria Arimany Muniz Syndrome 
Serotonin Syndrome  
Sertoli cell-only syndrome +   
Sessile Serrated Polyposis Cancer Syndrome  
severe acute respiratory syndrome  
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  
severe congenital neutropenia 3  
severe congenital neutropenia 4 +   
severe congenital neutropenia 5  
severe congenital neutropenia 6  
severe congenital neutropenia 7  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Sezary's disease  
Shaheen Syndrome  
Shaken Baby Syndrome 
Shapiro Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Sheehan syndrome 
short bowel syndrome  
short QT syndrome +   
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature-Obesity Syndrome 
SHORT syndrome  
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  
shoulder impingement syndrome 
Shprintzen Omphalocele Syndrome 
Shukla-Vernon syndrome  
sick building syndrome  
sick sinus 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 
Sillence Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simian Acquired Immunodeficiency Syndrome 
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Sinus Tarsi Syndrome 
sitosterolemia +   
Sjogren's syndrome +   
Sjogren-Larsson syndrome +   
Sjogren-Larsson-like Syndrome 
Sjögren-Mikulicz Syndrome  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Skin Fragility-Woolly Hair Syndrome  
Skraban-Deardorff Syndrome  
Slavotinek Pike Mills Hurst Syndrome 
Slit Ventricle Syndrome 
Slti Salem Syndrome 
Sly syndrome  
Small-For-Size Syndrome  
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Sneddon syndrome  
Snijders Blok-Campeau Syndrome  
Sohval Soffer Syndrome 
Sonoda Syndrome 
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
Sotos syndrome 3  
spastic ataxia +   
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 8  
Spastic Diplegia Infantile Type 
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia with Kallmann Syndrome 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
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 44  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spinal muscular atrophy with progressive myoclonic epilepsy  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spranger Schinzel Myers Syndrome 
STANKIEWICZ-ISIDOR SYNDROME  
Steel Syndrome  
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stevens-Johnson syndrome  
Stevenson-Carey Syndrome 
Stewart Treves Syndrome 
Stickler syndrome +   
stiff skin syndrome  
Stiff-Person syndrome  
Stocco Dos Santos type X-linked intellectual disability  
Stoelinga de Koomen Davis Syndrome 
Stoll Alembik Dott Syndrome 
Stoll Levy Francfort Syndrome 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Storm Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Structural Heart Defects and Renal Anomalies Syndrome  
Stuve-Wiedemann Syndrome  
subclavian steal syndrome 
Sucrosuria, Hiatus Hernia and Mental Retardation 
Sudden Hearing Loss  
sudden infant death syndrome +   
Sudden Unexpected Nocturnal Death Syndrome  
SULEIMAN-EL-HATTAB SYNDROME  
Summitt Syndrome 
SUNCT Syndrome 
superior mesenteric artery syndrome +  
Superior Vena Cava Syndrome  
Supernumerary Der(22)t(8 
supine hypotensive syndrome 
Susac Syndrome 
Sweeney-Cox syndrome  
Sweet syndrome  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic intellectual disability +   
syndromic microphthalmia 9  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Turner type  
Systemic Inflammatory Response Syndrome +   
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Tabatznik Syndrome 
Takao VCF Syndrome  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
Tatton-Brown-Rahman Syndrome  
Taylor's syndrome 
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Telfer Sugar Jaeger Syndrome 
Temple syndrome 
Temple-Baraitser syndrome  
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tenorio Syndrome  
terminal osseous dysplasia  
tethered spinal cord syndrome 
Tetraphocomelia-Thrombocytopenia Syndrome 
Tetrasomy X 
Thai Symphalangism Syndrome 
Thakker Donnai Syndrome 
thalassemia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thompson Baraitser Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thrombocytopenia Absent Ulnar Syndrome 
thrombocytopenia-absent radius syndrome  
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
Tietz syndrome  
Tietze's syndrome  
Tn polyagglutination syndrome  
Tolchin-Le Caignec Syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth and nail syndrome  
torsion dystonia 17 
torsion dystonia 2  
Townes-Brocks syndrome +   
toxic encephalopathy +   
Tranebjaerg Svejgaard syndrome 
transient bullous dermolysis of the newborn  
transient global amnesia 
transient infantile liver failure  
Treacher Collins syndrome +   
Treacher Collins syndrome 2  
Treacher Collins syndrome 3  
Treft Sanborn Carey Syndrome 
Trichodental Syndrome 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
Trichorhinophalangeal Syndrome +   
trichothiodystrophy +   
trigeminal neuralgia  
trimethylaminuria  
Triple X Syndrome  
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trisomy 22 Mosaicism Syndrome 
Troyer syndrome  
Trueb Burg Bottani Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Tucker Syndrome 
Tukel Syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome  
Tunglang Savage Bellman Syndrome 
Turcot Syndrome  
Turner syndrome +   
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Ulnar Nerve Compression Syndromes +  
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Upton Young Syndrome 
Urban Schosser Spohn Syndrome  
urethral syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
Usher syndrome +   
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL association +   
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van den Ende-Gupta syndrome  
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome  
Van der Woude syndrome +   
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Velofacioskeletal Syndrome 
ventriculomegaly - cystic kidney disease  
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
vertebral artery insufficiency +  
VERVERI-BRADY SYNDROME  
VEXAS syndrome  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
visual impairment and progressive phthisis bulbi  
Vogt-Koyanagi-Harada disease  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg's syndrome +   
WAGR syndrome +   
Waisman syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Warfarin Syndrome 
Warsaw breakage syndrome  
Wasting Syndrome +   
Waterhouse-Friderichsen syndrome +  
Weaver syndrome  
Weill-Marchesani syndrome +   
Weinstein Kliman Scully Syndrome 
Weismann Netter Syndrome 
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
Wells Syndrome 
Werner syndrome +   
Wernicke-Korsakoff syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Platelet Syndrome 
White-Sutton syndrome  
Whyte Murphy Fallon Sly syndrome 
Whyte Murphy Syndrome 
Widow's Peak Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Wilson-Turner syndrome  
Winchester syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wissler-Fanconi syndrome 
Wittwer Syndrome  
Wolcott-Rallison syndrome  
Wolfram syndrome +   
Wolfram syndrome 1  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
Woodhouse-Sakati Syndrome  
Woods Black Norbury Syndrome 
Woods Leversha Rogers Syndrome 
Worster-Drought Syndrome  
Worth syndrome  
Wright Dyck Syndrome 
Wrinkly Skin Syndrome  
WT Limb Blood Syndrome 
Wyburn Mason's Syndrome 
X-Linked Mental Retardation Gustavson Type 
X-linked nonsyndromic deafness +   
X-linked retinitis pigmentosa and sinorespiratory infections  
X-linked sensorineural deafness 
xeroderma pigmentosum +   
XFE progeroid syndrome  
Xia-Gibbs syndrome  
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yorifuji Okuno Syndrome 
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Young Syndrome  
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zika virus congenital syndrome 
Zimmerman Laband Syndrome +   
Zori Stalker Williams Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: SESAMES ;   SeSAME syndrome ;   epilepsy, ataxia, sensorineural deafness and tubulopathy ;   seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
Narrow Synonyms: cerebellar ataxia, KCNJ10-related
Broad Synonyms: KCNJ10-related disorder ;   KCNJ10-related disorders
Primary IDs: MESH:C557674
Alternate IDs: OMIA:002089 ;   OMIM:612780 ;   RDO:0009977
Xrefs: ORDO:199343
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19289823 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19420365 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23471908 "DO"

paths to the root

NHLBI Logo

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