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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
craniosynostosis +     
Facies +     
skin disease +     
syndrome +     
16Q24.3 Microdeletion Syndrome  
3-M syndrome +   
3-methylglutaconic aciduria type 7a  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3MC syndrome 1  
3p deletion syndrome  
46,XX sex reversal 2  
46,XX sex reversal 4  
46,XX sex reversal 5  
46,XY sex reversal 10  
46,XY sex reversal 3  
46,XY sex reversal 6  
46,XY sex reversal 9  
47, XYY Syndrome  
49,XXXXX Syndrome  
5-Nucleotidase Syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome  
Aarskog syndrome +   
Aase Smith Syndrome 
Abderhalden-Kaufmann-Lignac Syndrome  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Abruzzo-Erickson syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
Achenbach syndrome 
achondrogenesis type II  
Ackerman Syndrome 
Acneiform Eruptions +   
acrocallosal syndrome +   
acrocephalosyndactylia +   
acrodysostosis +   
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Acromegaloid Facial Appearance Syndrome 
acromelic frontonasal dysostosis  
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 +   
adermatoglyphia  
adiaspiromycosis 
Adie syndrome 
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 10  
agammaglobulinemia 5  
agammaglobulinemia 8A  
AGAT deficiency  
age related macular degeneration +   
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome  
Akaba Hayasaka Syndrome 
Akesson Syndrome 
akinetic mutism 
Aksu von Stockhausen 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 impaired intellectual development syndrome  
Alagille syndrome +   
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Albinism Deafness Syndrome 
Aldred Syndrome 
Alexander disease  
ALFADHEL SYNDROME  
Alice in Wonderland Syndrome 
Alien Hand Syndrome 
Alkuraya-Kucinskas syndrome  
Allan-Herndon-Dudley syndrome  
allergic cutaneous vasculitis +   
Aloi Tomasini Isaia Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
alopecia, neurologic defects, and endocrinopathy syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
alpha thalassemia-X-linked intellectual disability syndrome  
Alport syndrome +   
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos Syndrome 
Alzheimer's disease 1  
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
Alzheimer's disease 9  
AMED syndrome  
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Ameloonychohypohidrotic Syndrome 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex 
Amniotic Band Syndrome +  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
amyotrophic lateral sclerosis type 1  
amyotrophic lateral sclerosis type 24  
amyotrophic lateral sclerosis type 25  
amyotrophic lateral sclerosis type 26  
amyotrophic lateral sclerosis type 28  
amyotrophic neuralgia  
ancylostomiasis +  
Andersen-Tawil syndrome  
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
aniridia 1  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
Annular Epidermolytic Ichthyosis +   
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis 1  
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
antisynthetase syndrome  
antithrombin III deficiency  
Antley-Bixler syndrome +   
Antley-Bixler syndrome without disordered steroidogenesis  
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aortic Arch Syndromes +   
aortic valve disease 1  
aortic valve disease 2  
aortic valve disease 3  
aplasia of lacrimal and salivary glands  
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
apparent mineralocorticoid excess syndrome  
apraxia +   
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arboleda-Tham syndrome  
ARC syndrome +   
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome  
Arnold Stickler Bourne Syndrome 
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 14  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Impaired Intellectual Development, and Seizures  
Arts syndrome  
aseptic meningitis  
Asparagine Synthetase Deficiency  
Asperger syndrome  
asphyxiating thoracic dystrophy +   
Asrar Facharzt Haque Syndrome  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Atkin Syndrome  
atrial heart septal defect 2 +   
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
atrial standstill 1  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculocondylar Syndrome +   
Aurocephalosyndactyly 
Ausems Wittebol-Post Hennekam Syndrome 
autoimmune disease of skin and connective tissue +   
autoimmune interstitial lung, joint, and kidney disease  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autoinflammation, antibody deficiency, and immune dysregulation syndrome  
Autonomic Dysreflexia 
autosomal dominant Aarskog syndrome 
autosomal dominant Alport syndrome  
autosomal dominant beta thalassemia  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant craniodiaphyseal dysplasia  
autosomal dominant craniometaphyseal dysplasia  
autosomal dominant cutis laxa +   
autosomal dominant distal hereditary motor neuronopathy +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant dystrophic epidermolysis bullosa +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant familial visceral neuropathy  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant intellectual developmental disorder +   
autosomal dominant isolated ectopia lentis 1  
autosomal dominant isolated macrothrombocytopenia 1  
autosomal dominant isolated macrothrombocytopenia 2  
autosomal dominant keratitis +   
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant microcephaly +   
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant polycystic kidney disease +   
autosomal dominant progressive external ophthalmoplegia 1  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant severe congenital neutropenia +   
autosomal dominant sideroblastic anemia 4  
autosomal dominant spondyloepiphyseal dysplasia tarda 
autosomal dominant thrombophilia due to protein S deficiency  
autosomal dominant vitreoretinochoroidopathy  
autosomal dominant Wolfram syndrome  
autosomal dominant woolly hair  
autosomal recessive cutis laxa type III +   
autosomal recessive intellectual developmental disorder +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 12  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
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 +   
Baraitser-Winter syndrome 1  
Baraitser-Winter syndrome 2  
Baralle-Macken Syndrome  
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease +   
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 
BDV 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  
Behr syndrome  
Behrens Baumann Dust Syndrome 
Bell's palsy  
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
benign familial hematuria +   
benign familial infantile seizures 1  
benign familial infantile seizures 2  
benign familial infantile seizures 3  
benign familial infantile seizures 5  
benign familial infantile seizures 6  
Bent Bone Dysplasia Syndrome +   
bent bone dysplasia syndrome 1  
Berk-Tabatznik Syndrome 
Bernard-Soulier syndrome +   
Beukes hip dysplasia  
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
bilateral optic nerve hypoplasia  
bilateral perisylvian polymicrogyria +   
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-impaired intellectual development syndrome  
blue color blindness  
Blue Diaper Syndrome 
blue drum syndrome +  
Blue Rubber Bleb Nevus Syndrome  
blue toe syndrome 
Bobble-Head Doll Syndrome 
BOCKENHEIMER SYNDROME  
Boerhaave Syndrome 
Bohring Syndrome  
Bonneau Syndrome 
Book Syndrome 
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Bothnian type palmoplantar keratoderma  
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 type A1 +   
brachydactyly type A2 +   
brachydactyly type C  
brachydactyly type D +   
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +   
brain small vessel disease 1  
brain small vessel disease 2  
Brain-Lung-Thyroid Syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
breast disease +   
breast implant illness 
Bresheck/Bresek Syndrome 
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
Bruck syndrome +   
Brugada syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
Brunner syndrome  
Brunoni Syndrome 
Budd-Chiari syndrome +   
bullous congenital ichthyosiform erythroderma  
Bullous Dystrophy, Hereditary Macular Type 
BURATTI-HAREL SYNDROME  
Burn-McKeown syndrome  
Burnett Schwartz Berberian Syndrome  
burning mouth syndrome +  
Buschke-Ollendorff syndrome  
C syndrome  
A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. (DO)
CADASIL 1  
CADASIL2  
CAHMR Syndrome 
Calabro Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type +  
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  
Cardiac-Urogenital Syndrome  
Cardio-Renal Syndrome  
Cardioacrofacial Dysplasia +   
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Cardiofacioneurodevelopmental Syndrome  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
Caroli syndrome  
carpal tunnel syndrome 1  
carpal tunnel syndrome 2  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
Cartwright Nelson Fryns Syndrome 
Carvajal syndrome +   
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 24 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 37 
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 41  
cataract 42  
cataract 43  
cataract 47  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract Microcornea Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
central conducting lymphatic anomaly  
Central Cord Syndrome 
central precocious puberty 1  
central precocious puberty 2  
Cephalin Lipidosis 
cercarial dermatitis 
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +   
cerebellar atrophy, visual impairment, and psychomotor retardation  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
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  
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Rib Syndrome +  
chancroid +  
Chang Davidson Carlson Syndrome 
Char syndrome  
Charcot-Marie-Tooth disease axonal type 2C  
Charcot-Marie-Tooth disease axonal type 2CC  
Charcot-Marie-Tooth disease axonal type 2F  
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2L  
Charcot-Marie-Tooth disease axonal type 2N  
Charcot-Marie-Tooth disease axonal type 2O  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2Q  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2U  
Charcot-Marie-Tooth disease axonal type 2V  
Charcot-Marie-Tooth disease axonal type 2Z  
Charcot-Marie-Tooth disease dominant intermediate A  
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
Charcot-Marie-Tooth disease dominant intermediate G  
Charcot-Marie-Tooth disease type 1A  
Charcot-Marie-Tooth disease type 1B  
Charcot-Marie-Tooth disease type 1C  
Charcot-Marie-Tooth disease type 1D  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 1G  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2A  
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2DD  
Charcot-Marie-Tooth disease type 2E  
Charcot-Marie-Tooth disease type 2I  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease type 2Y  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 5  
Charcot-Marie-Tooth disease, axonal type 2W  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
cherubism +   
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
CHILD syndrome  
Childhood-Onset Chorea with Psychomotor Retardation  
childhood-onset neurodegeneration with brain atrophy  
CHIME syndrome  
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
chondrodysplasia punctata +   
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 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome, 593-kb  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
chromosome 17q12 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 18p deletion syndrome  
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 1p36.33 duplication syndrome 
chromosome 1q21.1 duplication syndrome  
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
chromosome 5p13 duplication syndrome 
chromosome 5q12 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  
chronic ulcer of skin +   
Chudley-Mccullough syndrome  
Chudley-Rozdilsky Syndrome 
ciliopathy +   
CINCA syndrome  
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK syndrome  
CLAPO Syndrome  
Clark-Baraitser syndrome  
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, Psychomotor Retardation, and Distinctive Facial Features  
cleft palate-lateral synechia syndrome  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Clouston syndrome  
CLOVES syndrome  
COACH syndrome +   
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
CODAS syndrome  
coenurosis 
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 Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +   
Combined Pituitary Hormone Deficiency 1  
common variable immunodeficiency 10  
common variable immunodeficiency 13  
common variable immunodeficiency 14  
common variable immunodeficiency 2  
compartment syndrome +   
complex cortical dysplasia with other brain malformations +   
complex regional pain syndrome +  
cone-rod dystrophy 24  
congenital adrenal insufficiency  
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  
Congenital Bone Marrow Failure Syndromes +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
congenital central hypoventilation syndrome +   
congenital contractural arachnodactyly  
congenital diarrhea 6  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital disorder of deglycosylation 2  
congenital dyserythropoietic anemia type IV  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital leptin deficiency  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
congenital megabladder  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to LMNA mutation  
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 7  
congenital myopathy 15  
congenital myopathy 16  
congenital myopathy 17  
congenital myopathy 18  
congenital myopathy 1A +   
congenital myopathy 2C  
congenital myopathy 4A +   
congenital myopathy 6  
congenital myopathy 8  
congenital nongoitrous hypothyroidism 2  
congenital nongoitrous hypothyroidism 3 
congenital nongoitrous hypothyroidism 5  
congenital nongoitrous hypothyroidism 6  
congenital nongoitrous hypothyroidism 8  
congenital nystagmus 2 
congenital nystagmus 3 
congenital nystagmus 7 
Congenital Pain Insensitivity +   
congenital stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
congenital symmetric circumferential skin creases 1  
congenital symmetric circumferential skin creases 2  
congenital vertical talus  
Conn's syndrome 
contagious pustular dermatitis 
contractures, pterygia, and spondylocarpotarsal fusion syndrome +   
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A  
Corneal Cerebellar Syndrome 
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
Cornelia de Lange syndrome 6  
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortisone reductase deficiency 2  
Costello syndrome  
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 dysmorphism, skeletal anomalies, and mental retardation syndrome +   
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 4  
Craniosynostosis 5  
Craniosynostosis 6  
craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis  
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Cri-du-Chat syndrome +   
Crigler-Najjar syndrome +   
Crome Syndrome 
Crouzon syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
Crush Syndrome  
Cryopyrin-Associated Periodic Syndromes +   
Cryptomicrotia Brachydactyly Syndrome 
CST3-related cerebral amyloid angiopathy +   
Cubital Tunnel Syndrome 
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Culler-Jones syndrome  
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Currarino syndrome  
Cushing Syndrome +   
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Cutis Laxa-Marfanoid Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
Cyclic Vomiting Syndrome +   
Cyprus Facial Neuromusculoskeletal Syndrome 
cystic fibrosis +   
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
D-2-hydroxyglutaric aciduria 2  
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, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness, dystonia, and cerebral hypomyelination  
Deafness, with Smith-Magenis Syndrome  
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deafness-Oligodontia Syndrome 
Deal Barratt Dillon Syndrome 
DEEAH Syndrome  
dehydrated hereditary stomatocytosis 1  
dehydrated hereditary stomatocytosis 2  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Delpire-McNeill Syndrome  
delta beta-thalassemia +   
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
dentinogenesis imperfecta +   
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Fibrosis  
Dermal Ridges, Nelson Syndrome 
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
dermatopathia pigmentosa reticularis  
DeSanto-Shinawi syndrome  
developmental and epileptic encephalopathy 100  
developmental and epileptic encephalopathy 103  
developmental and epileptic encephalopathy 104  
developmental and epileptic encephalopathy 108  
developmental and epileptic encephalopathy 109  
developmental and epileptic encephalopathy 11  
developmental and epileptic encephalopathy 116  
developmental and epileptic encephalopathy 13  
developmental and epileptic encephalopathy 14  
developmental and epileptic encephalopathy 17  
developmental and epileptic encephalopathy 19  
developmental and epileptic encephalopathy 24  
developmental and epileptic encephalopathy 26  
developmental and epileptic encephalopathy 27  
developmental and epileptic encephalopathy 30  
developmental and epileptic encephalopathy 31A  
developmental and epileptic encephalopathy 32  
developmental and epileptic encephalopathy 33  
developmental and epileptic encephalopathy 4  
developmental and epileptic encephalopathy 41  
developmental and epileptic encephalopathy 42  
developmental and epileptic encephalopathy 43  
developmental and epileptic encephalopathy 45  
developmental and epileptic encephalopathy 46  
developmental and epileptic encephalopathy 47  
developmental and epileptic encephalopathy 5  
developmental and epileptic encephalopathy 54  
developmental and epileptic encephalopathy 56  
developmental and epileptic encephalopathy 57  
developmental and epileptic encephalopathy 58  
developmental and epileptic encephalopathy 59  
developmental and epileptic encephalopathy 62  
developmental and epileptic encephalopathy 64  
developmental and epileptic encephalopathy 65  
developmental and epileptic encephalopathy 66  
developmental and epileptic encephalopathy 67  
developmental and epileptic encephalopathy 69  
developmental and epileptic encephalopathy 6B  
developmental and epileptic encephalopathy 7  
developmental and epileptic encephalopathy 70  
developmental and epileptic encephalopathy 72  
developmental and epileptic encephalopathy 73  
developmental and epileptic encephalopathy 74  
developmental and epileptic encephalopathy 78  
developmental and epileptic encephalopathy 79  
developmental and epileptic encephalopathy 87  
developmental and epileptic encephalopathy 9  
developmental and epileptic encephalopathy 91  
developmental and epileptic encephalopathy 92  
developmental and epileptic encephalopathy 93  
developmental and epileptic encephalopathy 96  
developmental and epileptic encephalopathy 97  
developmental and epileptic encephalopathy 98  
developmental and epileptic encephalopathy 99  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
developmental delay, dysmorphic facies, and brain anomalies  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome 
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
developmental dysplasia of the hip 1  
developmental dysplasia of the hip 2 
Devriendt syndrome 
dialysis disequilibrium syndrome 
Diaminopentanuria 
Diamond-Blackfan anemia 1  
Diamond-Blackfan anemia 10  
Diamond-Blackfan anemia 11  
Diamond-Blackfan anemia 12  
Diamond-Blackfan anemia 13  
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis  
Diamond-Blackfan anemia 16  
Diamond-Blackfan anemia 17  
Diamond-Blackfan anemia 18  
Diamond-Blackfan anemia 19  
Diamond-Blackfan anemia 2 
Diamond-Blackfan anemia 20  
Diamond-Blackfan anemia 3  
Diamond-Blackfan anemia 4  
Diamond-Blackfan anemia 5  
Diamond-Blackfan anemia 6  
Diamond-Blackfan anemia 7  
Diamond-Blackfan anemia 8  
Diamond-Blackfan anemia 9  
Dianzani Autoimmune Lymphoproliferative Syndrome 
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
Diarrhea prodrome + Hemolytic-Uremic Syndrome  
dicarboxylic aminoaciduria  
DICER1 syndrome  
Diets-Jongmans Syndrome  
diffuse cystic renal dysplasia  
diffuse infiltrative lymphocytosis syndrome 
DiGeorge syndrome +   
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1LL  
dilated cardiomyopathy 1MM  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
Dincsoy Salih Patel Syndrome 
dipetalonemiasis 
diphthamide deficiency syndrome 1  
diphthamide deficiency syndrome 2  
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 type 10 
distal arthrogryposis type 1A  
distal arthrogryposis type 1B  
distal arthrogryposis type 2A  
distal arthrogryposis type 2B1  
distal arthrogryposis type 2B2  
distal arthrogryposis type 2B3  
distal arthrogryposis type 3  
distal arthrogryposis type 5  
distal arthrogryposis type 7  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
distal myopathy 1  
distal myopathy 3  
distal myopathy Tateyama type  
distal myopathy with rimmed vacuoles  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
DOPA-responsive dystonia  
Down syndrome +   
Doyne honeycomb retinal dystrophy  
Drachtman Weinblatt Sitarz Syndrome 
Dravet syndrome  
dropped head syndrome 
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 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
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 
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
dysplastic nevus syndrome  
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 28, childhood-onset  
dystonia 30  
dystonia 33  
dystonia 9  
dystransthyretinemic hyperthyroxinemia  
Eagle Syndrome 
early-onset dystonia and/or spastic paraplegia  
early-onset epilepsy 2  
early-onset epilepsy 3  
EAST syndrome  
ectodermal dysplasia +   
ectodermal dysplasia 10A  
ectodermal dysplasia 11A  
ectodermal dysplasia 12  
ectodermal dysplasia and immunodeficiency 2  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
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 
Eczematous Skin Diseases +   
EDICT Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
Ehlers-Danlos syndrome arthrochalasia type 1  
Ehlers-Danlos syndrome arthrochalasia type 2  
Ehlers-Danlos syndrome classic type 1  
Ehlers-Danlos syndrome classic type 2  
Ehlers-Danlos syndrome periodontal type 1  
Ehlers-Danlos syndrome periodontal type 2  
Elastosis Perforans Serpiginosa 
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Elsahy-Waters syndrome  
Emanuel Syndrome 
empty sella syndrome +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocrine-cerebro-osteodysplasia syndrome  
endometriosis in scar of skin 
enhanced S-cone syndrome  
epidermal nevus +   
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type +   
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
epidermolysis bullosa simplex with muscular dystrophy  
epidermolytic hyperkeratosis 1  
epidermolytic palmoplantar keratoderma 1  
epidermolytic palmoplantar keratoderma 2  
Epilepsy Telangiectasia 
episodic ataxia type 9  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
episodic kinesigenic dyskinesia 3  
epithelial basement membrane dystrophy  
epithelial recurrent erosion dystrophy  
Erythema +   
erythematosquamous dermatosis 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
erythrokeratodermia variabilis et progressiva 6  
essential tremor 1  
essential tremor 2 
essential tremor 4  
essential tremor 5  
essential tremor 6  
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exanthem +   
exfoliation syndrome  
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
eyelid disease +   
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
facial dermatosis +   
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
Failed Back Surgery Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
familial adenomatous polyposis 1  
familial adult myoclonic epilepsy 1  
familial adult myoclonic epilepsy 2  
familial adult myoclonic epilepsy 3  
familial adult myoclonic epilepsy 4  
familial adult myoclonic epilepsy 6  
familial adult myoclonic epilepsy 7  
Familial Antiphospholipid Syndrome 
familial apolipoprotein A5 deficiency  
familial Behcet-like autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 3  
familial cold autoinflammatory syndrome 4  
Familial Convulsive Disorder with Prenatal or Early Onset 
familial encephalopathy with neuroserpin inclusion bodies  
familial episodic pain syndrome 1  
familial episodic pain syndrome 2  
familial episodic pain syndrome 3  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial expansile osteolysis  
familial focal epilepsy with variable foci +   
familial gestational hyperthyroidism  
Familial Hyperchylomicronemia Syndrome  
familial hyperinsulinemic hypoglycemia 1  
familial hyperinsulinemic hypoglycemia 2  
familial hyperinsulinemic hypoglycemia 3  
familial hyperinsulinemic hypoglycemia 5  
familial hyperinsulinemic hypoglycemia 6  
familial hyperinsulinemic hypoglycemia 7  
familial hypocalciuric hypercalcemia +   
familial juvenile hyperuricemic nephropathy +   
familial male-limited precocious puberty  
familial medullary thyroid carcinoma  
familial multiple lipomatosis 
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial progressive hyperpigmentation with or without hypopigmentation  
familial renal glucosuria  
familial temporal lobe epilepsy 1  
familial temporal lobe epilepsy 2  
familial temporal lobe epilepsy 3  
familial temporal lobe epilepsy 4 
familial temporal lobe epilepsy 5  
familial temporal lobe epilepsy 6 
familial temporal lobe epilepsy 7  
familial temporal lobe epilepsy 8  
familial visceral amyloidosis +   
Fanconi anemia complementation group R  
Fanconi renotubular syndrome 1  
Fanconi renotubular syndrome 3  
Fanconi renotubular syndrome 4  
Fanconi syndrome +   
Fara Chlupackova Syndrome 
Faundes-Banka Syndrome  
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Feline Acquired Immunodeficiency Syndrome 
Felty's syndrome 
Female Athlete Triad Syndrome 
Femoral Facial Syndrome 
Femur Fibula Ulna Syndrome 
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
fetal akinesia deformation sequence syndrome +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
fetal alcohol syndrome  
fetal encasement syndrome  
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome +   
fibrochondrogenesis +   
fibrochondrogenesis 2  
fibrodysplasia ossificans progressiva  
fibrogenesis imperfecta ossium 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
filariasis +   
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  
focal nonepidermolytic palmoplantar keratoderma 1  
focal nonepidermolytic palmoplantar keratoderma 2  
focal or diffuse nonepidermolytic palmoplantar keratoderma  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Foix-Chavany-Marie Syndrome 
Foot Diseases +   
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Foster-Kennedy syndrome 
Fountain Syndrome 
foveal hypoplasia 1  
fragile X 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 
Frints De Smet Fabry Fryns Syndrome 
frontometaphyseal dysplasia 2  
frontonasal dysplasia +   
frontonasal dysplasia 2  
frontonasal dysplasia 3  
Frontoocular Syndrome 
Fryns Hofkens Fabry Syndrome 
Fryns Macrocephaly 
Fryns Syndrome  
Fuchs' heterochromic uveitis 
Fuhrmann syndrome  
fumarase deficiency  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Gamstorp-Wohlfart syndrome  
GAPO syndrome  
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
geleophysic dysplasia 2  
geleophysic dysplasia 3  
Gemignani Syndrome 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genetic Skin Diseases +   
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
geroderma osteodysplasticum  
Gerstmann syndrome 
Ghosal hematodiaphyseal syndrome  
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
giant axonal neuropathy 2  
Gilles de la Tourette syndrome +   
Gillespie syndrome  
Gillessen-Kaesbach-Nishimura Dysplasia  
gingival fibromatosis 5  
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  
glomangioma +   
glucose transporter type 1 deficiency syndrome +   
glucose transporter type 1 deficiency syndrome 2  
Glycosylphosphatidylinositol Biosynthesis Defect 15  
gnathodiaphyseal dysplasia  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Goodpasture syndrome +   
Gorham's disease +   
Gorlin Bushkell Jensen Syndrome 
Gorlin Chaudhry Moss Syndrome 
GRACILE syndrome  
Granddad Syndrome 
Grange Syndrome  
Grant Syndrome 
granular corneal dystrophy +   
granulomatosis with polyangiitis +   
gray platelet syndrome +   
Green Sandford Davison Syndrome 
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Groll Hirschowitz Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
growth hormone insensitivity syndrome with immune dysregulation 2  
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
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 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
Hailey-Hailey disease  
Hair Defect with Photosensitivity and Mental Retardation 
hair disease +   
HAIR-AN syndrome 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +  
Halperin-Birk syndrome  
Hamamy Syndrome  
Hamanishi Ueba Tsuji Syndrome 
Hamano Tsukamoto Syndrome 
Hammer Toe Syndrome 
hand dermatosis +  
Hand-Arm Vibration Syndrome 
Hand-Foot Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
Hantavirus hemorrhagic fever with renal syndrome +   
hantavirus pulmonary syndrome 
Hao-Fountain Syndrome  
Hapnes Boman Skeie Syndrome 
Hardikar Syndrome  
Harel-Yoon syndrome  
Harlequin Syndrome 
Harrod Doman Keele Syndrome 
Hashimoto-Pritzker Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
hawkinsinuria  
HEART AND BRAIN MALFORMATION SYNDROME  
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES  
Hecht Scott Syndrome 
Heinz body anemia  
HELIX syndrome  
HELLP syndrome  
hemolytic-uremic syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
hemorrhoid +   
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
heparin cofactor II deficiency  
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary alpha tryptasemia syndrome 
hereditary angioedema +   
hereditary arterial and articular multiple calcification syndrome +   
hereditary breast ovarian cancer syndrome  
hereditary diffuse gastric cancer  
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
hereditary fructose intolerance syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema IA  
hereditary lymphedema IB 
hereditary lymphedema IC  
hereditary lymphedema ID  
hereditary lymphedema II 
hereditary mixed polyposis syndrome 2  
hereditary multiple exostoses +   
Hereditary Neoplastic Syndromes +   
hereditary neuropathy with liability to pressure palsies  
hereditary neutrophilia  
hereditary sensory and autonomic neuropathy type 1A  
hereditary sensory and autonomic neuropathy type 1C  
hereditary sensory and autonomic neuropathy type 7  
hereditary sensory neuropathy type 1B 
hereditary sensory neuropathy type 1D  
hereditary sensory neuropathy type 1E  
hereditary sensory neuropathy type 1F  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 72A  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 79A  
hereditary spastic paraplegia 8  
hereditary spastic paraplegia 80  
hereditary spastic paraplegia 88  
hereditary spastic paraplegia 90A  
hereditary spastic paraplegia 90B  
hereditary spastic paraplegia 9A  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
herpes zoster oticus 
Herrmann Syndrome 
Hersh Podruch Weisskopf Syndrome 
Hhhh Syndrome 
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
HID Syndrome  
high myopia-sensorineural deafness syndrome  
high pressure neurological syndrome 
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 1  
Holoprosencephaly 10  
holoprosencephaly 11  
holoprosencephaly 12  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome +   
Holzgreve-Wagner-Rehder syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Horner's syndrome +  
hot water epilepsy 1 
Hoxha-Aliu 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  
hydrolethalus syndrome +   
Hydroxylysinuria 
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hypereosinophilic syndrome +   
hyperferritinemia-cataract syndrome  
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 
hypertelorism, microtia, facial clefting syndrome 
hypertension and brachydactyly syndrome  
hypochondroplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
hypoinsulinemic hypoglycemia with hemihypertrophy  
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypomyelinating leukodystrophy 16  
hypomyelinating leukodystrophy 19  
hypomyelinating leukodystrophy 22  
hypomyelinating leukodystrophy 24  
hypomyelinating leukodystrophy 25  
hypomyelinating leukodystrophy 6  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatasia +   
hypophosphatemic nephrolithiasis/osteoporosis 1  
hypophosphatemic nephrolithiasis/osteoporosis 2  
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-cystinuria syndrome  
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5  
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 Prematurity Syndrome  
ichthyosis vulgaris +   
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis  
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 pulmonary fibrosis  
IFAP Syndrome +   
Iida Kannari Syndrome 
Iliotibial Band Syndrome 
IMAGe syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immune Reconstitution Inflammatory Syndrome 
immunodeficiency 11B  
immunodeficiency 13  
immunodeficiency 14  
immunodeficiency 15A  
immunodeficiency 21  
immunodeficiency 27B  
immunodeficiency 31A  
immunodeficiency 31C  
immunodeficiency 32A  
immunodeficiency 36  
immunodeficiency 39  
immunodeficiency 49  
immunodeficiency 60  
immunodeficiency 70  
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis  
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia  
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
Impaired intellectual development, anterior maxillary protrusion, and strabismus  
inappropriate ADH syndrome +   
inclusion body myopathy and brain white matter abnormalities  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
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 Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
infantile liver failure syndrome +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
infantile-onset distal myopathy 
Infectious Skin Diseases +   
inflammatory bowel disease 21 
inflammatory bowel disease 29  
inflammatory bowel disease 3 
inflammatory bowel disease 30  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
Intellectual Developmental Disorder with Autism and Macrocephaly  
Intellectual Developmental Disorder with Autism and Speech Delay  
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 hypotonia, impaired speech, and dysmorphic facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
intellectual developmental disorder with ocular anomalies and distinctive facial features  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY  
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 SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
intellectual disability and myopathy syndrome  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
interstitial lung disease 1  
interstitial lung disease 2  
intracranial berry aneurysm 1 
intracranial berry aneurysm 3 
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
irritable bowel syndrome  
ischiocoxopodopatellar syndrome  
Islet Cell Tumor Syndrome  
Isodicentric Chromosome 15 Syndrome  
isolated cleft palate  
isolated elevated serum creatine phosphokinase levels  
isolated microphthalmia 7  
isolated mitochondrial myopathy  
Isotretinoin Embryopathy Like Syndrome 
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
IVIC syndrome  
Jaccoud's syndrome 
Jackson-Weiss syndrome  
Jaffer Beighton Syndrome 
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
Jansen's metaphyseal chondrodysplasia  
Jet Lag Syndrome 
Johanson-Blizzard syndrome  
Johnson Munson 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 2C, Laryngoonychocutaneous  
Jung Wolff Back Stahl Syndrome 
juvenile amyotrophic lateral sclerosis type 27  
juvenile glaucoma  
juvenile polyposis syndrome +   
juvenile xanthogranuloma 
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 
Kasabach-Merritt Syndrome +   
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
Kawasaki disease  
KBG syndrome  
Kearns-Sayre syndrome  
Keipert syndrome  
Kennerknecht Sorgo Oberhoffer Syndrome 
Kenny-Caffey syndrome +   
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
keratosis +   
keratosis palmoplantaris striata 1  
keratosis palmoplantaris striata 2  
keratosis palmoplantaris striata 3  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kilquist Syndrome  
Kimura disease 
King Denborough syndrome  
KINSSHIP syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleefstra syndrome 1  
Kleefstra syndrome 2  
Kleine-Levin syndrome  
Kleiner Holmes Syndrome 
Klinefelter syndrome  
Klippel-Feil syndrome +   
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Klippel-Trenaunay syndrome  
Kluver-Bucy syndrome +  
Kniest dysplasia  
Knobloch Syndrome +   
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter-Tonz syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
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 
lacrimoauriculodentodigital syndrome 1  
lacrimoauriculodentodigital syndrome 2  
lacrimoauriculodentodigital syndrome 3  
LADD syndrome +   
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Lambotte Syndrome 
Landy Donnai Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen syndrome  
Larsen Syndromes +   
Larsen-Like Syndromes +   
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
lateral medullary syndrome +   
lateral meningocele syndrome  
lattice corneal dystrophy +   
Laurence Prosser Rocker Syndrome 
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Lazy Leukocyte Syndrome  
Le Marec Bracq Picaud Syndrome 
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Leber congenital amaurosis with early-onset deafness  
Leber plus disease +   
leg dermatosis 
Legius syndrome  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leri Pleonosteosis 
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
leucine-sensitive hypoglycemia of infancy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Li-Campeau Syndrome  
Li-Fraumeni syndrome +   
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Liberfarb Syndrome  
Lichtenstein Syndrome 
Liddle syndrome +   
Limb-Mammary Syndrome  
lipomatosis +   
lissencephaly 1  
lissencephaly 10  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 9 with complex brainstem malformation  
localized scleroderma +   
locked-in syndrome 
Loeys-Dietz syndrome +   
loiasis 
long QT syndrome +   
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 16  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 4  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 8  
long QT syndrome 9  
LONG-OLSEN-DISTELMAIER SYNDROME  
loose anagen hair syndrome +   
Lopes Gorlin Syndrome 
Lopes-Maciel-Rodan 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, Cardiac Septal Defects, and Characteristic Facies 
lymphedema-distichiasis syndrome +   
Lynch Lee Murday syndrome 
Lynch syndrome +   
Lyngstadaas Syndrome 
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
macrocephaly-autism syndrome  
Macroepiphyseal Dysplasia, McAlister Coe Type 
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 +  
malignant hyperthermia +   
Mallory-Weiss Syndrome 
Malocclusion and Short Stature 
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 
MARBACH-RUSTAD PROGEROID 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-Smith syndrome  
Marsili syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martinez-Frias Syndrome  
Martsolf Syndrome +   
Martsolf Syndrome 2  
MASA syndrome  
MASS Syndrome  
Massa Casaer Ceulemans Syndrome 
MAST syndrome  
Masters-Allen syndrome 
mastocytosis +   
Maternally Inherited Leigh Syndrome  
maturity-onset diabetes of the young +   
May-Thurner Syndrome 
Mayer-Rokitansky-Kuster-Hauser 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 
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
MEDNIK syndrome  
Meesmann corneal dystrophy 1  
Meesmann corneal dystrophy 2  
Meester-Loeys syndrome  
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megacystis-microcolon-intestinal hypoperistalsis syndrome +   
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 6  
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, Buenos Aires 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, Skeletal Dysplasia, and Abducens Palsy 
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
Mesomelia-Synostoses Syndrome 
Metabolic Skin Diseases +   
Metabolic Syndrome +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
metatropic dysplasia  
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Michels Caskey Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
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, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly-Capillary Malformation Syndrome  
microcephaly-micromelia syndrome  
Microphthalmia and Mental Deficiency 
middle lobe syndrome  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Miles-Carpenter syndrome +   
Miller-Dieker lissencephaly syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell syndrome  
Mitchell-Riley Syndrome  
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 8A  
mitochondrial pyruvate carrier deficiency  
Miura type epiphyseal chondrodysplasia  
mixed connective tissue disease  
MLS syndrome +   
Moebius syndrome +   
Mollica-Pavone-Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
mongolian spot 
monilethrix +   
monofixation syndrome 
Mononen-Karnes-Senac syndrome 
Morgellons Disease 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome +   
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Mucopolysaccharidosis-Plus Syndrome  
Muenke syndrome  
Mulchandani-Bhoj-Conlin syndrome 
mulibrey nanism  
Muller Barth Menger Syndrome 
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple benign circumferential skin creases on limbs +   
multiple chemical sensitivity  
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple cutaneous and mucosal venous malformations  
multiple endocrine neoplasia type 1  
multiple endocrine neoplasia type 2A +   
multiple endocrine neoplasia type 2B +   
multiple endocrine neoplasia type 4  
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
multiple epiphyseal dysplasia with myopia and deafness  
multiple mitochondrial dysfunctions syndrome +   
Multiple Pterygium Syndrome, X-Linked 
multiple synostoses syndrome +   
multiple system atrophy +   
multiple types of congenital heart defects 6  
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
muscular dystrophy-dystroglycanopathy type B1  
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B6  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myelodysplastic syndrome +   
myeloid leukemia associated with Down Syndrome  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myoclonic dystonia 34  
myoclonic-atonic epilepsy  
Myoectodermal Gonadal Dysgenesis Syndrome  
myofascial pain syndrome +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Myopathy, Cataract, Hypogonadism Syndrome 
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Naegeli-Franceschetti-Jadassohn syndrome  
Naguib-Richieri-Costa Syndrome 
nail disease +   
nail-patella syndrome +   
Nakajo Syndrome  
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nasu-Hakola disease  
Nathalie Syndrome 
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nelson syndrome 
nemaline myopathy 4  
nemaline myopathy 5C  
nemaline myopathy 6  
neonatal abstinence syndrome  
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
nephrogenic diabetes insipidus type 2  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Nephrogenic Fibrosing Dermopathy  
nephrotic syndrome +   
nephrotic syndrome type 4  
nerve compression syndrome +   
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
neurodegeneration with brain iron accumulation 3  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
neurodevelopmental disorder with hypotonia and speech delay  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with involuntary movements  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
Neurofaciodigitorenal Syndrome 
neurofibromatosis +   
neurofibromatosis-Noonan syndrome  
neurogenic scapuloperoneal syndrome Kaeser type  
neurohypophyseal diabetes insipidus +   
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES  
neuronal ceroid lipofuscinosis 4  
neuronal intranuclear inclusion disease  
neurooculocardiogenitourinary syndrome  
Neutropenic Enterocolitis  
nevoid basal cell carcinoma syndrome 1  
NF1 Microduplication Syndrome 
NFIA-related disorder  
Nguyen Syndrome 
Nicolaides-Baraitser syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen breakage syndrome +   
Nizon-Isidor Syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome  
non-syndromic intellectual disability +   
nonautoimmune hyperthyroidism  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
noninfectious dermatoses of eyelid +  
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
nonprogressive cerebellar ataxia with mental retardation  
nonsyndromic congenital nail disorder 1  
nonsyndromic congenital nail disorder 2 
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 5 
nonsyndromic congenital nail disorder 6 
nonsyndromic congenital nail disorder 7 
nonsyndromic congenital nail disorder 8  
Nonsyndromic Trigonocephaly +   
Noonan syndrome 1  
Noonan syndrome 10  
Noonan syndrome 11  
Noonan syndrome 12  
Noonan syndrome 13  
Noonan syndrome 3  
Noonan syndrome 4  
Noonan syndrome 5  
Noonan syndrome 6  
Noonan syndrome 7  
Noonan syndrome 8  
Noonan syndrome 9  
Noonan syndrome with multiple lentigines +   
Norman-Roberts syndrome  
Novak Syndrome 
O'Donnell-Luria-Rodan Syndrome  
Obesity Hypoventilation Syndrome 
oblique facial clefting 1  
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 
oculopharyngodistal myopathy 1  
oculopharyngodistal myopathy 2  
oculopharyngodistal myopathy 3  
oculopharyngodistal myopathy 4  
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Ohdo syndrome +   
Ohdo syndrome, SBBYS variant  
Okur-Chung Neurodevelopmental Syndrome  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
Omenn syndrome  
omodysplasia 2  
Onat Syndrome 
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Onychotrichodysplasia and Neutropenia 
Opitz Reynolds Fitzgerald syndrome 
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 1  
optic atrophy 10  
optic atrophy 12  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8 
Optic Atrophy Spastic Paraplegia Syndrome 
ornithine translocase deficiency  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft +   
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
orofaciodigital syndrome +   
orofaciodigital syndrome X 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
Osteolysis Syndrome, Recessive 
Osteootohepatoenteric Syndrome  
Osteopenic Nonfracture Syndrome 
osteoporosis-pseudoglioma syndrome  
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otosclerosis +   
otospondylomegaepiphyseal dysplasia, autosomal dominant  
ovarian dysgenesis 8  
ovarian hyperstimulation syndrome  
overactive bladder syndrome  
overhydrated hereditary stomatocytosis  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
pachyonychia congenita +   
Paganini-Miozzo syndrome  
Paget's disease of bone 2  
Paget's disease of bone 3  
Paget's disease of bone 4 
Paget's disease of bone 6  
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 +  
PAPA syndrome  
Papulosquamous Skin Diseases +   
paraganglioma +   
paramyotonia congenita of Von Eulenburg  
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
parastremmatic dwarfism  
PARC Syndrome 
Parenti-Mignot Neurodevelopmental Syndrome  
Parkinson's disease 1  
Parkinson's disease 15  
Parkinson's disease 17  
Parkinson's disease 21  
Parkinson's disease 22  
Parkinson's disease 25  
Parkinson's disease 3 
Parkinson's disease 4  
Parkinson's disease 8  
paroxysmal extreme pain disorder  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
paroxysmal nonkinesigenic dyskinesia 3  
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
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 +   
Pelger-Huet anomaly +   
Pellagra like Syndrome 
Pendred syndrome  
Penttinen-Aula Syndrome  
periodic limb movement disorder  
Perlman syndrome  
permanent neonatal diabetes mellitus +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Perniola Krajewska Carnevale Syndrome 
Peroxisome biogenesis disorder 4B  
Perrault syndrome +   
Perry syndrome  
persian gulf syndrome  
persistent fetal circulation syndrome  
persistent Mullerian duct syndrome  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Rockelein Syndrome 
Pfeiffer syndrome  
Pfeiffer Tietze Welte Syndrome 
phaeohyphomycosis +  
PHARC syndrome  
Pheochromocytoma Islet Cell Tumor Syndrome 
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
photosensitivity disease +   
piebaldism +   
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
pigment dispersion syndrome  
pigmentation disease +   
pigmented paravenous chorioretinal atrophy  
Pilarowski-Bjornsson Syndrome  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
Plagiocephaly and X-Linked Mental Retardation 
plasminogen deficiency type I  
platelet-type bleeding disorder 12 
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 20  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 9  
Plica syndrome 
Plummer-Vinson Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome  
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Poland syndrome 
polycystic liver disease +   
polycystic ovary syndrome +   
Polydactyly Myopia Syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polyhydramnios, megalencephaly, and symptomatic epilepsy  
Polyosteolysis-Hyperostosis Syndrome 
poor metabolism of thiopurines 2  
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 amorphous corneal dystrophy 
Posterior Leukoencephalopathy Syndrome  
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
posterior polymorphous corneal dystrophy 4  
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 
Prader-Willi syndrome +   
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
preaxial polydactyly II +   
preaxial polydactyly type IV  
Preeyasombat Varavithya Syndrome 
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome  
primary ciliary dyskinesia 43  
primary failure of tooth eruption  
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
primary ovarian insufficiency 11  
primary ovarian insufficiency 16  
primary ovarian insufficiency 3  
primary ovarian insufficiency 5  
primary ovarian insufficiency 6  
primary ovarian insufficiency 7  
primary pigmented nodular adrenocortical disease 1  
primary pigmented nodular adrenocortical disease 2  
primary pigmented nodular adrenocortical disease 4  
Primrose Syndrome  
progeria +   
Progeroid Facial Appearance with Hand Anomalies 
progeroid syndrome +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive myoclonus epilepsy 7  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Propofol Infusion Syndrome  
proprotein convertase 1/3 deficiency  
protein C deficiency +   
proteosome-associated autoinflammatory syndrome +   
proteosome-associated autoinflammatory syndrome 2  
prothrombin thrombophilia 
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 
Prurigo  
Pruritus +   
PSAT deficiency  
Pseudo-TORCH Syndrome +   
Pseudo-Zellweger Syndrome  
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
Pseudoatrophoderma Colli 
pseudobulbar palsy +   
Pseudopyogenic Granuloma 
Pseudouridinuria and Mental Defect 
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pulmonary venoocclusive disease 1  
punctate palmoplantar keratoderma type II  
punctate palmoplantar keratoderma type III 
Qazi Markouizos syndrome 
Radio-Renal Syndrome 
RADIO-TARTAGLIA SYNDROME  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
RASopathy +   
RAUCH-STEINDL SYNDROME  
Ray Peterson Scott Syndrome 
reactive cutaneous fibrous lesion +   
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 7, with or without dilated cardiomyopathy  
Renal Nutcracker Syndrome 
restless legs syndrome +   
retinal arterial tortuosity  
retinal cone dystrophy 1 
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  
retinal macular dystrophy +   
retinal vasculopathy with cerebral leukodystrophy  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 13  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 27  
retinitis pigmentosa 33  
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 4  
retinitis pigmentosa 42  
retinitis pigmentosa 60  
retinitis pigmentosa 63 
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 83  
retinitis pigmentosa 87  
retinitis pigmentosa 89  
retinitis pigmentosa 9  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
retinitis pigmentosa-deafness syndrome  
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Rh deficiency syndrome  
rhabdoid tumor predisposition syndrome +   
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 
Riley-Day syndrome +   
Ring Chromosome 14 Syndrome  
Ring Chromosome 20 Syndrome  
Ring Chromosome 4 Syndrome 
ring dermoid of cornea  
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow Sorauf Syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Roifman Syndrome  
Roifman-Chitayat Syndrome  
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 
Romano-Ward Syndrome  
Rombo Syndrome 
Rommen Mueller Sybert Syndrome 
rosacea +   
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  
Saethre-Chotzen syndrome  
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan 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-Wilson syndrome  
Say Field Coldwell Syndrome 
Say Meyer Syndrome  
Say Syndrome 
Say-Barber-Miller Syndrome 
scalp dermatosis +   
scalp-ear-nipple syndrome  
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
scapuloperoneal spinal muscular atrophy  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel Giedion syndrome  
Schinzel type phocomelia  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5 
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
Schlegelberger Grote Syndrome 
Schmid-Fraccaro Syndrome  
Schnyder corneal dystrophy  
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 2  
Scott syndrome  
Sd(a) POLYAGGLUTINATION SYNDROME  
seasonal affective disorder 
Seaver Cassidy Syndrome 
sebaceous gland disease +   
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  
selective pituitary thyroid hormone resistance  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Senior-Loken syndrome +   
Sensorineural Deafness and Migraine  
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 Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Shaheen Syndrome  
Shaken Baby Syndrome 
Shapiro Syndrome 
Sharma Kapoor Ramji Syndrome 
Shashi-Pena Syndrome  
Sheehan syndrome 
short QT syndrome +   
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature-Obesity Syndrome 
SHORT syndrome  
shoulder impingement syndrome  
Shprintzen Omphalocele Syndrome 
Shprintzen-Goldberg Craniosynostosis  
Shukla-Vernon syndrome  
sick building syndrome  
sick sinus syndrome +   
Siegler Brewer Carey Syndrome 
Sifrim-Hitz-Weiss syndrome  
Silengo Lerone Pelizza Syndrome 
Sillence Syndrome 
Silver-Russell syndrome +   
Silver-Russell Syndrome 3  
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 
Sjogren-Larsson syndrome +   
Sjogren-Larsson-like Syndrome 
Sjögren-Mikulicz Syndrome  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia, San Diego Type 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Skin Abnormalities +   
skin atrophy 
Skin Neoplasms +   
skin sarcoidosis 
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  
snowflake vitreoretinal degeneration  
Sohval Soffer Syndrome 
solitary median maxillary central incisor  
Sonoda Syndrome 
Sorsby's fundus dystrophy  
Sotos syndrome +   
Sotos syndrome 1  
Sotos syndrome 2  
spastic ataxia +   
spastic ataxia 1  
spastic ataxia 7 
Spastic Diplegia Infantile Type 
Spastic Paraplegia and Evans Syndrome 
spastic paraplegia with deafness 
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 
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2  
spermatogenic failure 3  
spermatogenic failure 32  
spermatogenic failure 36  
spermatogenic failure 4  
spermatogenic failure 8  
spinal muscular atrophy with lower extremity predominant +   
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spinal muscular atrophy, Jokela type  
Spinocerebellar Ataxia with Dysmorphism 
split hand-foot malformation 1  
split hand-foot malformation 4  
SPOAN syndrome  
spondylocarpotarsal synostosis syndrome  
spondylocostal dysostosis 1  
spondyloepimetaphyseal dysplasia with joint laxity type 2  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia Kimberley type  
spondyloepiphyseal dysplasia Maroteaux type  
spondyloepiphyseal dysplasia Nishimura type  
spondyloepiphyseal dysplasia Stanescu type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondyloepiphyseal dysplasia tarda with intellectual disability 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaphyseal dysplasia corner fracture type  
spondylometaphyseal dysplasia Kozlowski type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
spondyloperipheral dysplasia  
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 +   
Stickler syndrome 1  
Stickler syndrome 2  
stiff skin syndrome  
Stiff-Person syndrome  
STING-associated vasculopathy with onset in infancy  
Stocco Dos Santos type X-linked intellectual disability  
Stoelinga-de Koomen-Davis Syndrome 
Stolerman neurodevelopmental 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 
Striatal Degeneration, Autosomal Dominant +   
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 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;22) Syndrome 
supine hypotensive syndrome 
Susac Syndrome 
sweat gland disease +   
Sweeney-Cox syndrome  
Sweet syndrome  
syndactyly type 1  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic intellectual disability +   
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
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 +   
Tabatznik Syndrome 
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
TANGO2-related metabolic encephalopathy and arrythmias  
tarsal-carpal coalition syndrome +   
Tatton-Brown-Rahman syndrome  
Taylor's syndrome 
Teebi hypertelorism syndrome +   
Teebi hypertelorism syndrome 1  
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout 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  
tetraamelia 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  
Thiel-Behnke corneal dystrophy  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thompson Baraitser Syndrome 
Thomsen disease  
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thrombocytopenia 11  
Thrombocytopenia 8  
Thrombocytopenia Absent Ulnar Syndrome 
thrombophilia due to activated protein C resistance  
thrombophilia due to HRG deficiency  
thrombophilia due to thrombin defect  
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
tibial muscular dystrophy  
Tietz syndrome  
Tietze's syndrome  
Timothy syndrome  
Tn polyagglutination syndrome  
Tolchin-Le Caignec Syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth and nail syndrome  
TORCH syndrome 
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy  
Townes-Brocks syndrome +   
toxic encephalopathy +   
Tranebjaerg Svejgaard syndrome 
transient global amnesia 
transthyretin amyloidosis  
Treacher Collins syndrome +   
Treft Sanborn Carey Syndrome 
Trichodental Syndrome 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
trichothiodystrophy +   
trigeminal neuralgia  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triple X Syndrome  
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trueb Burg Bottani Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
tuberous sclerosis +   
tubular aggregate myopathy 1  
tubular aggregate myopathy 2  
Tucker Syndrome 
Tukel syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome +   
Tunglang Savage Bellman Syndrome 
Turner syndrome +   
Turnpenny-Fry Syndrome  
type 1 diabetes mellitus 2  
tyrosinemia type II  
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Hypoplasia with Mental Retardation 
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 +   
variant ABeta2M amyloidosis 
vascular skin disease +   
vascular type Ehlers-Danlos 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 
verruciform xanthoma of skin 
vertebral anomalies and variable endocrine and T-cell dysfunction  
vertebral artery insufficiency +  
vertebral hypersegmentation and orofacial anomalies  
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vissers-Bodmer syndrome  
Vogt-Koyanagi-Harada disease  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg syndrome +   
WAGR syndrome +   
Waisman syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
warfarin sensitivity +   
Warfarin Syndrome 
Warsaw breakage syndrome  
Wasting Syndrome +   
Waterhouse-Friderichsen syndrome +  
Watson syndrome  
Weaver syndrome  
Weill-Marchesani syndrome +   
Weinstein Kliman Scully Syndrome 
Weismann Netter Syndrome 
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
Wells Syndrome 
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
WHIM syndrome 1  
White Forelock with Malformations 
White Platelet Syndrome 
white sponge nevus 1  
white sponge nevus 2  
White-Sutton syndrome  
Whyte Murphy Fallon Sly syndrome 
Whyte Murphy Syndrome 
Widow's Peak Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wiedemann-Steiner 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  
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 Intellectual Developmental Disorders +   
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked retinitis pigmentosa and sinorespiratory infections  
xeroderma pigmentosum +   
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
Xia-Gibbs syndrome  
YAO SYNDROME  
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yoon-Bellen neurodevelopmental syndrome  
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Young Syndrome  
YUKSEL-VOGEL-BAUER SYNDROME  
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zaki 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: OTCS ;   Opitz C trigonocephaly ;   Opitz trigonocephaly C syndrome ;   Opitz trigonocephaly syndrome ;   trigonocephaly C syndrome ;   trigonocephaly syndrome
Alternate IDs: DOID:9007360
Xrefs: GARD:5978 ;   MESH:C537418 ;   MIM:211750 ;   MONDO:0008893 ;   ORDO:1308
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17847009 "DO" "DO"

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