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Ontology Browser

Term:
Ayme-Gripp Syndrome (DOID:9005651)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (0) Pig: (1)
Parent Terms Term With Siblings Child Terms
cataract +     
Facies +     
Growth Disorders +     
syndrome +     
16p11.2 Deletion Syndrome  
16Q24.3 Microdeletion Syndrome  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3p- syndrome 
47, XYY Syndrome 
49,XXXXX Syndrome 
5-Nucleotidase Syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome 
Aarskog syndrome +   
Aase Smith Syndrome 
Abderhalden-Kaufmann-Lignac Syndrome 
ablepharon macrostomia syndrome  
Abruzzo Erickson Syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
Achenbach syndrome 
Acid-Labile Subunit Deficiency  
Ackerman Syndrome 
acquired immunodeficiency syndrome +   
acrocallosal syndrome +   
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
Acromegaloid Facial Appearance Syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
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 syndrome  
AGAT deficiency  
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 
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 Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Mental Retardation Syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
alpha thalassemia-X-linked intellectual disability syndrome  
Alpha-B Crystallinopathy with Cataract 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos Syndrome 
Ameloonychohypohidrotic Syndrome 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amniotic Band Syndrome +  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
Antisynthetase Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aortic Arch Syndromes +   
Aphalangia Syndactyly Microcephaly 
apparent mineralocorticoid excess syndrome  
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
ARC syndrome +   
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome 
Arnold Stickler Bourne Syndrome 
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthrogryposis, Mental Retardation, and Seizures  
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Arts syndrome  
aseptic meningitis  
Asperger syndrome  
asphyxiating thoracic dystrophy +   
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  
Au-Kline Syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculocondylar Syndrome +   
Auriculoosteodysplasia 
Ausems Wittebol-Post Hennekam Syndrome 
Autonomic Dysreflexia 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant mental retardation 50  
autosomal dominant nonsyndromic deafness +   
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
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 Brett Piesowicz 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  
Basan Syndrome  
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 
Beaulieu-Boycott-Innes 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 
Bent Bone Dysplasia Syndrome  
Berk-Tabatznik Syndrome 
Bernard-Soulier syndrome +   
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 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloom syndrome  
Blue Diaper Syndrome 
blue drum syndrome +  
Blue Rubber Bleb Nevus Syndrome  
blue toe syndrome 
Bobble-Head Doll Syndrome 
Boerhaave Syndrome 
Bohring Syndrome  
Bone Marrow Failure Syndromes +   
Bonneau Syndrome 
Book Syndrome 
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
brachial plexus neuritis +   
Brachioskeletogenital Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type E2  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
Brachytelephalangy Characteristic Facies Kallmann 
Brain-Lung-Thyroid Syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
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  
CAHMR Syndrome 
Calabro Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Capgras syndrome 
capillary leak syndrome +   
Caplan's syndrome 
CAPOS Syndrome  
Capsule Opacification 
Cardiac-Urogenital Syndrome  
Cardio-Renal Syndrome  
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney-Stratakis syndrome  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
Cartwright Nelson Fryns Syndrome 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Congenital Dominant Non Nuclear 
Cataract Hutterite Type  
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
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 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 
Cervical Rib Syndrome +  
Chang Davidson Carlson Syndrome 
Char syndrome  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
chondrodysplasia punctata +   
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOPS SYNDROME  
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, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome 
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
Chromosome 2q37 Deletion Syndrome  
Chromosome 3 Duplication Syndrome 
chromosome 3q29 microdeletion syndrome 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
chromosome 5p13 duplication syndrome 
chromosome 5q deletion 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 
Churg-Strauss syndrome  
ciliopathy +   
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK Syndrome  
CLAPO Syndrome  
Clark-Baraitser Syndrome 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
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 +   
cocoon 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 Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 3  
compartment syndrome +   
complex regional pain syndrome +  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
congenital central hypoventilation syndrome  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Pain Insensitivity +   
Congenital Symmetric Circumferential Skin Creases +   
Conn's syndrome 
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornea Guttata with Anterior Polar Cataract 
Corneal Cerebellar Syndrome 
Corneal Dystrophy and Perceptive Deafness  
Cornelia de Lange syndrome +   
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortical deafness +   
Costello syndrome  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Cowden-Like Syndrome  
Coxoauricular Syndrome 
Cracked Tooth Syndrome 
Crane-Heise Syndrome 
Cranioacrofacial Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis 2  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Cri-du-Chat syndrome +   
Crigler-Najjar syndrome +   
Crome Syndrome 
Crumpled Helices and Small Mouth 
Crush Syndrome  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
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  
Cushing Syndrome +   
Cutis Laxa-Marfanoid Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Cyprus Facial Neuromusculoskeletal Syndrome 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
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 Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deal Barratt Dillon Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Ridges, Nelson Syndrome 
Dermoids of Cornea 
Desanto-Shinawi Syndrome  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
diabetic cataract  
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diarrhea prodrome + Hemolytic-Uremic Syndrome 
dicarboxylic aminoaciduria  
diffuse infiltrative lymphocytosis syndrome 
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Dincsoy Salih Patel Syndrome 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
Donohue 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 
Dyschondrosteosis and Nephritis 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
dysplastic nevus syndrome +   
Eagle Syndrome 
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
EAST syndrome  
ectodermal dysplasia +   
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly-Cleft Palate Syndrome 
Edict Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
empty sella syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Ermine Phenotype 
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exfoliation syndrome  
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
factitious disorder +  
Failed Back Surgery Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Antiphospholipid Syndrome 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Cyclic Vomiting Syndrome  
Familial Hyperchylomicronemia Syndrome 
Familial Osteochondritis Dissecans  
Familial Popliteal Pterygium Syndrome 
Fanconi syndrome +   
Fara Chlupackova Syndrome 
Faye-Petersen Ward Carey Syndrome 
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 alcohol syndrome  
Fetal Growth Retardation +   
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome  
Fg Syndrome 5 
fibrochondrogenesis +   
fibrogenesis imperfecta ossium 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
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 Epilepsy with Speech Disorder and with or without Mental Retardation  
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 
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 Macrocephaly 
Fryns Syndrome 
Fuchs' heterochromic uveitis 
Fuhrmann syndrome  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Gamstorp-Wohlfart syndrome  
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
Gemignani Syndrome 
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
Gerstmann syndrome 
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
Gilles de la Tourette syndrome +   
Gillespie Syndrome  
Gingival Fibromatosis with Distinctive Facies 
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  
GLUT1 Deficiency Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Gonadal Dysgenesis, XX Type, with Deafness +   
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Good syndrome 
Goodpasture syndrome +   
Gordon 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 
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 Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
HAIR-AN syndrome 
Hairy Elbows 
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 
Hecht Syndrome  
HELIX syndrome  
HELLP syndrome  
Heme Oxygenase 1 Deficiency  
hemolytic-uremic syndrome +   
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hemorrhagic Shock and Encephalopathy Syndrome 
Hennekam syndrome +   
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary breast ovarian cancer syndrome  
hereditary fructose intolerance syndrome  
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 9A  
Hermansky-Pudlak syndrome +   
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
herpes zoster oticus 
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hhhh Syndrome 
HID 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 10 
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  
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hydrolethalus syndrome +   
Hydroxylysinuria 
hypereosinophilic syndrome +   
hyperferritinemia-cataract syndrome  
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermobility syndrome 
Hyperphosphatasia with Mental Retardation +   
hypertelorism, microtia, facial clefting syndrome 
Hypertrophic Neuropathy and Cataract 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 23 with or without anosmia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypomyelinating leukodystrophy 5  
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypoplastic left heart syndrome +   
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-lymphedema-telangiectasia syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis and Male Hypogonadism 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
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 
Idiopathic Short Stature, X-Linked  
Iida Kannari Syndrome 
Iliotibial Band Syndrome 
IMAGe syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immune Reconstitution Inflammatory Syndrome 
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 Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
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 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 SEVERE SPEECH AND AMBULATION DEFECTS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
irritable bowel syndrome  
Islet Cell Tumor Syndrome 
Isodicentric Chromosome 15 Syndrome  
isolated cleft palate  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isotretinoin Embryopathy Like Syndrome 
ITM2B-related cerebral amyloid angiopathy 2  
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 
Jung Wolff Back Stahl Syndrome 
Juvenile Cataract, with Microcornea and Glucosuria  
juvenile polyposis syndrome +   
Kabuki 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 
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 +   
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome  
Keutel Syndrome  
Khalifa Graham Syndrome 
King Denborough Syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleine-Levin syndrome 
Kleiner Holmes Syndrome 
Klinefelter's syndrome  
Klippel-Feil syndrome +   
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 
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Lambert-Eaton myasthenic syndrome  
Lambotte Syndrome 
Landau-Kleffner syndrome  
Landy Donnai Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
Laryngo Onycho Cutaneous Syndrome  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
lateral medullary syndrome +   
lateral meningocele syndrome  
Laurence Prosser Rocker Syndrome 
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Lazy Leukocyte Syndrome 
Le Marec Bracq Picaud Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
Legius Syndrome  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lemierre's syndrome 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Li-Fraumeni syndrome +   
Lichtenstein Syndrome 
Liddle syndrome +   
Light Fixation Seizure Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
Limb-Mammary Syndrome  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
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  
Lujan Fryns Syndrome  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Luscan-Lumish syndrome  
Lutembacher's syndrome 
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
lymphedema-distichiasis syndrome +   
Lynch Lee Murday syndrome 
Lyngstadaas Syndrome 
Lysine Malabsorption Syndrome 
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrophage Activation Syndrome  
Macrosomia Adiposa Congenita 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Madelung Deformity 
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 
Malocclusion and Short Stature 
Malouf 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 Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Hypermobility Syndrome 
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
Marsden 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-Like Cerebrorenodigital Syndrome 
meconium aspiration syndrome  
Medial Medullary Syndrome 
Medial Tibial Stress Syndrome 
median arcuate ligament syndrome 
MEDNIK syndrome  
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megakaryoblastic Leukemia of Down Syndrome  
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
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 +   
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 +   
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
MERRF/MELAS Overlap Syndrome  
Mesomelia-Synostoses Syndrome 
Metabolic Syndrome +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Michelin Tire Baby Syndrome +   
Michels Caskey Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microdontia Hypodontia Short Stature 
Microphthalmia and Mental Deficiency 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
middle lobe syndrome  
Miles-Carpenter syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell-Riley Syndrome  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mixed connective tissue disease  
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 +   
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muenke syndrome  
Muir-Torre syndrome  
Muller Barth Menger Syndrome 
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple chemical sensitivity  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Hamartoma Syndrome +   
multiple mitochondrial dysfunctions syndrome +   
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, X-Linked 
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B6  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myelodysplastic syndrome +   
MYH-9 related disease +   
myofascial pain syndrome +   
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
Myotonia with Skeletal Abnormalities and Mental Retardation 
myotonic cataract 
N syndrome 
Nablus Mask-Like Facial Syndrome 
Naegeli-Franceschetti-Jadassohn syndrome  
Naguib-Richieri-Costa Syndrome 
nail-patella syndrome +   
Nakajo Syndrome  
Nakamura Osame syndrome 
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nathalie Syndrome 
Nelson syndrome 
neonatal abstinence syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrotic syndrome +   
nerve compression syndrome +   
Nestor-Guillermo Progeria Syndrome  
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neurofaciodigitorenal Syndrome 
Neurofibromatosis-Noonan Syndrome  
Neutropenic Enterocolitis  
Neutrophil Immunodeficiency Syndrome  
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
Nguyen Syndrome 
Nicolaides Baraitser Syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
Nisch syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome 
non-syndromic intellectual disability +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
nonprogressive cerebellar ataxia with mental retardation  
Nonsyndromic Sensorineural Hearing Loss  
Noonan Like Syndrome +   
Noonan syndrome +   
Norman-Roberts syndrome  
Novak Syndrome 
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 +   
Oculodental Syndrome Rutherfurd Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Ohdo syndrome +   
OI/EDS Combined Syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
Omenn syndrome  
Omodysplasia 1  
Omodysplasia 2  
Onat Syndrome 
Onychotrichodysplasia and Neutropenia 
Opitz Reynolds Fitzgerald syndrome 
Opitz Trigonocephaly Syndrome  
Opitz-GBBB syndrome +   
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 10  
optic atrophy 3  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
ornithine translocase deficiency  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft +   
orofaciodigital syndrome +   
Orstavik Lindemann Solberg Syndrome  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome Recessive 
Osteopenic Nonfracture Syndrome  
osteoporosis-pseudoglioma syndrome  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otospondylomegaepiphyseal dysplasia  
otulipenia  
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 and congenital alopecia 2 
palmoplantar keratoderma-deafness syndrome  
Pancoast tumor +  
PAPA syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
Parastremmatic Dwarfism  
PARC Syndrome 
Parkinson's disease 15  
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  
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
peeling skin syndrome +   
Pellagra like Syndrome 
Pendred syndrome  
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, with Cerebellar Agenesis  
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
Perry syndrome  
persian gulf syndrome  
persistent fetal circulation syndrome  
persistent Mullerian duct syndrome  
Peters Anomaly with Cataract 
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 
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Photosensitive Trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
pigment dispersion syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
PILAROWSKI-BJORNSSON SYNDROME  
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
Plica syndrome 
Plummer-Vinson Syndrome  
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
Poland syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
polycystic ovary syndrome +   
Polydactyly Myopia Syndrome 
Polydysspondyly 
Polyendocrine-Polyneuropathy Syndrome  
polymyalgia rheumatica  
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  
posterior polar cataract  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
Postthrombotic 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 +   
Prader-Willi-Like Syndrome  
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
Preeyasombat Varavithya Syndrome 
Premature Aging, Okamoto Type 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Premature Ovarian Failure 10  
Presbycusis +   
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome 
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
Primrose Syndrome  
Progeria Short Stature Pigmented Nevi 
Progeroid Facial Appearance with Hand Anomalies 
Progeroid Syndrome, Congenital, Petty Type  
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Propofol Infusion Syndrome  
Proud Syndrome  
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudo-TORCH Syndrome +   
Pseudo-Zellweger Syndrome 
Pseudoaminopterin Syndrome 
pseudobulbar palsy +  
Pseudotrisomy 13 Syndrome 
Pseudouridinuria and Mental Defect 
psoriatic arthritis  
PSPH deficiency  
Qazi Markouizos syndrome 
Radio Renal Syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Raine Syndrome  
Rajab Syndrome  
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
Recombinant Chromosome 8 Syndrome 
Refeeding Syndrome 
Reginato Schiapachasse Syndrome 
Renal and Mullerian Duct Hypoplasia +   
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
renal hypomagnesemia 5 with ocular involvement  
Renal Nutcracker Syndrome 
restless legs syndrome +   
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinitis Pigmentosa Inversa with Deafness 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Reynolds Syndrome  
Rh deficiency syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Syndrome 
RHYNS Syndrome  
Richards-Rundle Syndrome 
Richieri Costa Da Silva Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Richter's syndrome 
Ridges-off-the-end Syndrome 
Riley-Day syndrome +   
Ring Chromosome 14 Syndrome 
Ring Chromosome 20 Syndrome 
Ring Chromosome 4 Syndrome 
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 
Rodrigues Blindness 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
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 
Sabinas Brittle Hair Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Agenesis Syndrome 
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan syndrome 
Salcedo Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Samson Gardner Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sandifer Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Sao Paulo MCA/MR Syndrome 
SAPHO syndrome  
Satoyoshi Syndrome 
Saul Wilkes Stevenson syndrome 
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
SC phocomelia syndrome  
Scalp Ear Nipple Syndrome  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
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-Lelek Syndrome  
Schweitzer Kemink Graham Syndrome 
scimitar syndrome +   
Sclerosing Bone Dysplasia Mental Retardation 
Scott syndrome  
sea-blue histiocytosis  
seasonal affective disorder 
Seaver Cassidy Syndrome 
Seckel syndrome +   
Seckel syndrome 1  
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  
senile cataract +   
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 Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Seow Najjar Syndrome 
Seres-Santamaria Arimany Muniz Syndrome 
Serotonin Syndrome  
Sertoli cell-only syndrome +   
Sessile Serrated Polyposis Cancer Syndrome  
severe acute respiratory syndrome  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
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 Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
Short Stature-Obesity Syndrome 
SHORT syndrome  
shoulder impingement syndrome 
Shprintzen Omphalocele Syndrome 
SHUKLA-VERNON SYNDROME  
Shwachman-Diamond syndrome  
sick building syndrome  
sick sinus syndrome +   
SIDDIQI SYNDROME  
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Sillence Syndrome 
Silver-Russell syndrome +   
Simian Acquired Immunodeficiency Syndrome 
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Sinus Tarsi Syndrome 
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 
Sotos syndrome +   
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia Epilepsy Mental Retardation 
Spastic Paraplegia with Kallmann Syndrome 
Spastic Paraplegia, Ataxia, and 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 
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Dysmorphism 
split hand-foot malformation 1 with sensorineural hearing loss  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondyloocular Syndrome, Autosomal Recessive  
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 Syndrome  
Stoelinga de Koomen Davis Syndrome 
Stoll Alembik Dott Syndrome 
Stoll Levy Francfort Syndrome 
Storm Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
Stromme syndrome  
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 
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 X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Systemic Inflammatory Response Syndrome +   
Tabatznik Syndrome 
Takao VCF Syndrome  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
TARP 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-Baraitser syndrome  
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy Syndrome  
Tenorio Syndrome  
Ter Haar Syndrome  
tetanic cataract 
tethered spinal cord syndrome 
Tetraphocomelia-Thrombocytopenia Syndrome 
Tetrasomy X 
Thai Symphalangism Syndrome 
Thakker Donnai Syndrome 
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 Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
Tietz syndrome  
Tietze's syndrome  
Tn polyagglutination syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth and nail syndrome  
Townes-Brocks syndrome +   
toxic encephalopathy +   
Tranebjaerg Svejgaard syndrome 
transient global amnesia 
Treft Sanborn Carey Syndrome 
Tricho-Dento-Osseous Syndrome  
Trichodental Syndrome 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type III  
Trichothiodystrophy Syndromes +   
trigeminal neuralgia  
Triple X Syndrome 
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trisomy 22 Mosaicism 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 +   
Turnpenny-Fry Syndrome  
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 der Hoeve Halbertsma Waardenburg Gualdi Syndrome 
Van der Woude syndrome +   
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
vertebral artery insufficiency +  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vogt-Koyanagi-Harada disease  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg's syndrome +   
WAGR 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 Forelock with Malformations 
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 Region Duplication Syndrome 
Williams-Beuren syndrome +   
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 
Wilson-Turner syndrome  
Winchester Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wissler's syndrome 
Wittwer Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome +   
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
Woodhouse-Sakati Syndrome  
Woods Black Norbury Syndrome 
Woods Leversha Rogers Syndrome 
Worster Drought Syndrome  
Worth's syndrome  
Wright Dyck Syndrome 
Wrinkly Skin Syndrome  
WT Limb Blood Syndrome 
Wyburn Mason's Syndrome 
X-linked nonsyndromic deafness +   
Xia-Gibbs syndrome  
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin 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 +   
Zonular Cataract and Nystagmus  
Zori Stalker Williams Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: AYGRP ;   Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Primary IDs: MESH:C563390
Alternate IDs: OMIM:601088 ;   RDO:0012657

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