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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
2-aminoadipic 2-oxoadipic aciduria  
22q11 Deletion Syndrome +   
3-M syndrome +   
3-Methylcrotonyl-CoA carboxylase deficiency +   
3-methylglutaconic aciduria type 1  
3-methylglutaconic aciduria type 3  
3-methylglutaconic aciduria type 5  
3-methylglutaconic aciduria type 8  
3-methylglutaconic aciduria type 9  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3MC syndrome +   
3MC syndrome 1  
3MC syndrome 2  
3p- syndrome 
47, XYY Syndrome 
49,XXXXX Syndrome 
5-Nucleotidase Syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome 
Aarskog syndrome +   
Aase Smith Syndrome 
ABCD syndrome  
Abderhalden-Kaufmann-Lignac Syndrome 
abetalipoproteinemia +   
ablepharon macrostomia syndrome  
Abruzzo Erickson Syndrome  
Abuse Dwarfism Syndrome 
aceruloplasminemia  
achalasia microcephaly syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
acheiropody  
Achenbach syndrome 
achondrogenesis +   
achondrogenesis type IA  
achondrogenesis type IB  
achondroplasia +   
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
Acid-Labile Subunit Deficiency  
Ackerman Syndrome 
acquired immunodeficiency syndrome +   
acrocallosal syndrome +   
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
Acromegaloid Facial Appearance Syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
acromesomelic dysplasia +   
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
acromicric dysplasia +   
Acrootoocular Syndrome 
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Acrorenal Mandibular Syndrome 
acrorenal syndrome +  
acute chest syndrome  
Acute Coronary Syndrome  
Acute Radiation Syndrome 
Acute Retroviral Syndrome 
Adams Nance Syndrome 
Adams-Oliver syndrome +   
Adams-Stokes Syndrome 
Adducted Thumbs Syndrome +   
Adie syndrome 
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
adult spinal muscular atrophy  
ADULT syndrome  
agammaglobulinemia 4  
AGAT deficiency  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agenesis of the corpus callosum with peripheral neuropathy  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aicardi syndrome 
Aicardi-Goutieres syndrome +   
Akaba Hayasaka Syndrome 
Akesson Syndrome 
akinetic mutism 
Aksu von Stockhausen Syndrome 
Al Awadi Syndrome  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
AL-RAQAD SYNDROME  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alagille syndrome  
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Albinism Deafness Syndrome 
Aldred Syndrome 
Alice in Wonderland Syndrome 
Alien Hand Syndrome 
ALKURAYA-KUCINSKAS SYNDROME  
Allan-Herndon-Dudley syndrome  
Allanson Pantzar McLeod Syndrome +   
Aloi Tomasini Isaia Syndrome 
alopecia universalis +   
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
Alopecia-Mental Retardation Syndrome +   
alpha thalassemia-X-linked intellectual disability syndrome  
alpha-2-plasmin inhibitor deficiency  
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos Syndrome 
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Amelogenesis Imperfecta Type 3C  
Ameloonychohypohidrotic Syndrome 
Amniotic Band Syndrome +  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
aniridia +   
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
anodontia +   
Anophthalmia +   
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis +   
Anterior Segment Dysgenesis 4  
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
Antisynthetase Syndrome 
Antley-Bixler syndrome +   
Aortic Arch Syndromes +   
Aphalangia Syndactyly Microcephaly 
apparent mineralocorticoid excess syndrome  
ARC syndrome +   
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome 
Arnold Stickler Bourne Syndrome 
arrhythmogenic right ventricular dysplasia 11  
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Arts syndrome  
aseptic meningitis  
Asperger syndrome  
asphyxiating thoracic dystrophy +   
Asrar Facharzt Haque Syndrome 
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
atelosteogenesis +   
Athabaskan brainstem dysgenesis syndrome  
Atkin Syndrome  
atransferrinemia  
atrichia with papular lesions  
Au-Kline Syndrome  
Aughton Syndrome 
Auriculocondylar Syndrome +   
Auriculoosteodysplasia 
Ausems Wittebol-Post Hennekam Syndrome 
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
Autonomic Dysreflexia 
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive cutis laxa type III +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
Autosomal Recessive Robinow Syndrome 2  
autosomal recessive type IV Ehlers-Danlos syndrome 
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Ayazi Syndrome 
Ayme-Gripp Syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baastrup's syndrome 
BADS syndrome 
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bahemuka Brown syndrome 
Bainbridge-Ropers Syndrome  
Baker Vinters Syndrome 
BAKER-GORDON SYNDROME  
Baller-Gerold syndrome  
Bangstad Syndrome 
Banki Syndrome 
Banti's Syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Barber-Say syndrome  
Bardet-Biedl syndrome +   
Barre-Lieou syndrome 
Bart-Pumphrey syndrome  
Barth syndrome +   
Bartter disease +   
Basan Syndrome  
Basaran Yilmaz Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
basilar artery insufficiency +  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Battered Child Syndrome 
Bazex-Dupre-Christol Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Beardwell Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Becker Nevus Syndrome 
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Beemer-Langer syndrome  
Behcet's disease +   
Behr Syndrome  
Behrens Baumann Dust Syndrome 
Bell's palsy 
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
Bent Bone Dysplasia Syndrome  
Berk-Tabatznik Syndrome 
Bernard-Soulier syndrome +   
beta-ketothiolase deficiency  
Beukes hip dysplasia  
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
BIRK-LANDAU-PEREZ SYNDROME  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
Blau syndrome  
Blepharochalasis and Double Lip 
blepharocheilodontic syndrome +   
blepharophimosis +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Bloom syndrome  
Blount's disease 
Blue Diaper Syndrome 
blue drum syndrome +  
Blue Rubber Bleb Nevus Syndrome  
blue toe syndrome 
Bobble-Head Doll Syndrome 
Boerhaave Syndrome 
Bohring Syndrome  
Bone Marrow Failure Syndromes +   
Bonneau Syndrome 
Book Syndrome 
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
brachial plexus neuritis +   
Brachioskeletogenital Syndrome  
brachydactyly type E2  
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia +   
brachyolmia-amelogenesis imperfecta syndrome  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Brain-Lung-Thyroid Syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Cleft Anomalies 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
brittle cornea syndrome +   
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
Bruck syndrome +   
Brugada syndrome +   
Brunner syndrome  
Brunoni Syndrome 
Budd-Chiari syndrome +   
Burn-Mckeown Syndrome  
Burnett Schwartz Berberian Syndrome +   
burning mouth syndrome +  
Buschke-Ollendorff Syndrome  
Caffey disease +   
CAHMR Syndrome 
Calabro Syndrome 
Calvarial Hyperostosis 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Camurati-Engelmann disease +   
Canavan disease  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Capgras syndrome 
capillary leak syndrome +   
Caplan's syndrome 
CAPOS Syndrome  
Carabelli Anomaly of Maxillary Molar Teeth 
carbamoyl phosphate synthetase I deficiency disease  
Cardiac-Urogenital Syndrome  
Cardio-Renal Syndrome  
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney-Stratakis syndrome  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
Cataract Microcornea Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Catel Manzke Syndrome  
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
CD3epsilon deficiency 
CD3gamma deficiency 
CEDNIK syndrome  
Central Cord Syndrome 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
Cerebellofaciodental Syndrome  
cerebral creatine deficiency syndrome +   
cerebrocostomandibular syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Rib Syndrome +  
Chang Davidson Carlson Syndrome 
Char syndrome  
Charcot-Marie-Tooth disease axonal type 2H 
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2S  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2X  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
CHARGE syndrome  
Chediak-Higashi syndrome +   
Chemke Oliver Mallek Syndrome 
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOPS SYNDROME  
choreaacanthocytosis  
chromosomal deletion syndrome +   
chromosomal duplication syndrome +   
Chromosome 13q Deletion Syndrome +   
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 2q31.2 deletion syndrome 
Chromosome 2q37 Deletion Syndrome  
Chromosome 3 Duplication Syndrome 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
chromosome 5q deletion syndrome  
Chromosome 6 Ring Syndrome 
chromosome 6pter-p24 deletion syndrome 
Chromosome 7 Ring Syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xp11.3 Deletion Syndrome  
Chromosome Xq Duplication Syndrome 
Chromosome Xq28 Duplication Syndrome 
chronic atrial and intestinal dysrhythmia  
chronic fatigue syndrome  
Chudley-Mccullough syndrome  
Chudley-Rozdilsky Syndrome 
Churg-Strauss syndrome  
ciliopathy +   
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK Syndrome  
CLAPO Syndrome  
Clark-Baraitser Syndrome 
classic galactosemia  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft palate-lateral synechia syndrome  
cleidocranial dysplasia +   
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only  
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CLOVES syndrome  
COACH Syndrome  
Cockayne syndrome +   
cocoon syndrome  
CODAS syndrome  
An autosomal recessive disease characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. (DO)
Coffin Syndrome 1 
Coffin-Lowry syndrome  
Coffin-Siris syndrome +   
Cogan syndrome +   
Cohen Syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Cole-Carpenter syndrome +   
Collagenopathy, Type 2 Alpha 1 
coloboma +   
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Colobomatous Macrophthalmia with Microcornea 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
combined malonic and methylmalonic acidemia  
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 6  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
compartment syndrome +   
complex regional pain syndrome +  
congenital adrenal insufficiency  
congenital amegakaryocytic thrombocytopenia  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital central hypoventilation syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital disorder of glycosylation Ia  
congenital disorder of glycosylation Iaa  
congenital disorder of glycosylation Ib  
congenital disorder of glycosylation Ic  
congenital disorder of glycosylation Id  
congenital disorder of glycosylation Ie  
congenital disorder of glycosylation If  
congenital disorder of glycosylation Ig  
congenital disorder of glycosylation Ih  
congenital disorder of glycosylation Ii  
congenital disorder of glycosylation Ij  
congenital disorder of glycosylation Ik  
congenital disorder of glycosylation Il  
congenital disorder of glycosylation Im  
congenital disorder of glycosylation In  
congenital disorder of glycosylation Ip  
congenital disorder of glycosylation Iq  
congenital disorder of glycosylation Ir  
congenital disorder of glycosylation It  
congenital disorder of glycosylation Iu  
congenital disorder of glycosylation Iw  
congenital disorder of glycosylation Ix  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital dyserythropoietic anemia type Ia  
congenital dyserythropoietic anemia type Ib  
congenital dyserythropoietic anemia type II  
congenital generalized lipodystrophy +   
congenital generalized lipodystrophy type 4  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
congenital hereditary endothelial dystrophy of cornea  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital hypotrichosis with juvenile macular dystrophy  
congenital leptin deficiency  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital muscular dystrophy 1B 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy merosin-positive 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital myasthenic syndrome 10  
congenital myasthenic syndrome 11  
congenital myasthenic syndrome 12  
congenital myasthenic syndrome 13  
congenital myasthenic syndrome 14  
congenital myasthenic syndrome 15  
congenital myasthenic syndrome 16  
congenital myasthenic syndrome 17  
congenital myasthenic syndrome 19  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 20  
congenital myasthenic syndrome 21  
congenital myasthenic syndrome 22  
congenital myasthenic syndrome 2C  
congenital myasthenic syndrome 3B  
congenital myasthenic syndrome 3C  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 4B  
congenital myasthenic syndrome 4C  
congenital myasthenic syndrome 5  
congenital myasthenic syndrome 6  
congenital myasthenic syndrome 8  
congenital myasthenic syndrome 9  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
Congenital Pain Insensitivity +   
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
Conn's syndrome 
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Corneal Cerebellar Syndrome 
Cornelia de Lange syndrome +   
Corneodermatoosseous Syndrome 
Coronary-Subclavian Steal Syndrome 
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
cortical dysplasia-focal epilepsy syndrome  
cortisone reductase deficiency 1  
Costello syndrome  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Cowden-Like Syndrome  
Coxoauricular Syndrome 
Cracked Tooth Syndrome 
Crane-Heise Syndrome 
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis 2  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Crigler-Najjar syndrome +   
Crome Syndrome 
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Crush Syndrome  
Cryopyrin-Associated Periodic Syndromes +   
Cryptomicrotia Brachydactyly Syndrome 
Cryptophthalmos, Unilateral or Bilateral, Isolated  
Cubital Tunnel Syndrome 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries Syndrome 
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Cushing Syndrome +   
Cutis Laxa-Marfanoid Syndrome 
Cyprus Facial Neuromusculoskeletal Syndrome 
cystathioninuria  
cystic fibrosis +   
cystinosis +   
Czech Dysplasia, Metatarsal Type  
D-2-hydroxyglutaric aciduria 1  
Daentl Towsend Siegel Syndrome 
Dahlberg Borer Newcomer Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
Daneman Davy Mancer Syndrome 
Davenport Donlan Syndrome 
Davis Lafer Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deafness Oligodontia Syndrome 
Deafness, with Smith-Magenis Syndrome  
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Deal Barratt Dillon Syndrome 
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Dens in Dente +  
dental enamel hypoplasia +   
dentin dysplasia +   
dentinogenesis imperfecta +   
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Ridges, Nelson Syndrome 
Dermoids of Cornea 
Dermoodontodysplasia 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
Developmental Dysplasia of the Hip 1  
Developmental Dysplasia of the Hip 2 
Devriendt syndrome 
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diaphanospondylodysostosis  
Diarrhea prodrome + Hemolytic-Uremic Syndrome 
Diastema +  
diastrophic dysplasia +   
diffuse infiltrative lymphocytosis syndrome 
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis  
Dincsoy Salih Patel Syndrome 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Trisomy 10q Syndrome 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donnai-Barrow syndrome  
Donohue syndrome  
Down syndrome +   
Drachtman Weinblatt Sitarz Syndrome 
Dropped Head Syndromes 
Drug Hypersensitivity Syndrome  
dry eye syndrome +   
Duane retraction syndrome +   
Duane-radial ray syndrome  
Dubowitz syndrome 
Duker Weiss Siber syndrome 
Duplication 4p Syndrome 
Dursun Syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dyggve-Melchior-Clausen disease +   
Dykes Markes Harper Syndrome 
Dyschondrosteosis and Nephritis 
dysplastic nevus syndrome +   
dystonia 16  
dystonia 27  
dystonia 5  
Eagle Syndrome 
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
ectodermal dysplasia +   
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Lentis +   
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly-Cleft Palate Syndrome 
Edict Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Egg-Shaped Pupil 
Ehlers-Danlos syndrome +   
Ehlers-Danlos syndrome progeroid type +   
Eiken Skeletal Dysplasia  
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
empty sella syndrome +   
endocrine-cerebro-osteodysplasia syndrome  
enhanced S-cone syndrome  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
Euhidrotic Ectodermal Dysplasia 
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exfoliation syndrome  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
FACES Syndrome 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Dysplasia, Lethal 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
factitious disorder +  
factor XII deficiency  
Failed Back Surgery Syndrome 
Fairbank Disease 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Antiphospholipid Syndrome 
familial apolipoprotein C-II deficiency  
Familial Cyclic Vomiting Syndrome  
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
Familial Hyperchylomicronemia Syndrome 
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
Familial Osteochondritis Dissecans  
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
Familial Popliteal Pterygium Syndrome 
familial temporal lobe epilepsy 5  
Fanconi anemia complementation group A +   
Fanconi anemia complementation group C  
Fanconi anemia complementation group D1  
Fanconi anemia complementation group D2  
Fanconi anemia complementation group E  
Fanconi anemia complementation group I  
Fanconi anemia complementation group L  
Fanconi anemia complementation group O  
Fanconi anemia complementation group P  
Fanconi anemia complementation group Q  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
Fanconi syndrome +   
Fara Chlupackova Syndrome 
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
fatal infantile hypertonic myofibrillar myopathy  
Faye-Petersen Ward Carey Syndrome 
Feigenbaum Bergeron Richardson Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
Feline Acquired Immunodeficiency Syndrome 
Felty's syndrome 
Female Athlete Triad Syndrome 
Femoral Facial Syndrome 
Femur Fibula Ulna Syndrome 
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fetal alcohol syndrome  
Fetal Growth Retardation +   
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome  
Fg Syndrome 5 
fibrochondrogenesis +   
fibrogenesis imperfecta ossium 
Fibrous Dysplasia of Bone +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitz-Hugh-Curtis Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-Guilbert Syndrome  
Fitzsimmons-McLachlan-Gilbert syndrome 
Floating-Harbor syndrome  
FLOTCH Syndrome 
Flynn Aird Syndrome 
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Foix Chavany Marie Syndrome 
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Foster-Kennedy syndrome 
Fountain Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fowler Christmas Chapple Syndrome 
Fragile Site 16p12 
fragile X syndrome +   
Franceschini Vardeu Guala syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fraser-Like Syndrome 
Frasier syndrome  
Freeman-Sheldon Syndrome  
Freire-Maia Odontotrichomelic Syndrome 
Frenkel Russe Syndrome 
Frey syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontometaphyseal Dysplasia +   
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Hofkens Fabry Syndrome 
Fryns Syndrome 
Fuchs' heterochromic uveitis 
Fuhrmann syndrome  
fumarase deficiency  
Furukawa Takagi Nakao Syndrome 
Fused Teeth 
GABRIELE-DE VRIES SYNDROME  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
gamma-glutamyl transpeptidase deficiency  
Gamstorp-Wohlfart syndrome  
gangliosidosis +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
Gemignani Syndrome 
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genito Palato Cardiac Syndrome 
Genitopatellar Syndrome  
Genoa Syndrome 
German Syndrome 
geroderma osteodysplasticum  
Gerstmann syndrome 
Ghosal Hematodiaphyseal Dysplasia  
Ghose Sachdev Kumar Syndrome 
Giacheti Syndrome 
giant axonal neuropathy 1  
Gilles de la Tourette syndrome +   
Gitelman syndrome  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
GLUT1 Deficiency Syndrome  
glutaric acidemia I  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Good syndrome 
Goodpasture syndrome +   
Gordon Syndrome  
Gorham's disease +  
Gorlin Bushkell Jensen Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
GRACILE syndrome  
Graham Boyle Troxell Syndrome 
Granddad Syndrome 
Grange Syndrome  
Grant Syndrome 
gray platelet syndrome +   
Green Sandford Davison Syndrome 
Greenberg Dysplasia  
Greig cephalopolysyndactyly syndrome  
Griscelli syndrome +   
Groll Hirschowitz Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
HAIR-AN syndrome 
Hairy Elbows 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +  
Hamamy Syndrome  
Hamanishi Ueba Tsuji Syndrome 
Hamano Tsukamoto Syndrome 
Hammer Toe Syndrome  
Hand-Arm Vibration Syndrome 
Hand-Foot Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
Hantavirus hemorrhagic fever with renal syndrome +   
hantavirus pulmonary syndrome 
Hapnes Boman Skeie Syndrome 
Hardikar Syndrome 
HAREL-YOON SYNDROME  
Harlequin Syndrome 
Harrod Doman Keele Syndrome 
Hashimoto-Pritzker Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
Hecht Scott Syndrome 
Hecht Syndrome  
HELIX syndrome  
HELLP syndrome  
Heme Oxygenase 1 Deficiency  
hemolytic-uremic syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
Hennekam syndrome +   
hepatic encephalopathy +   
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary breast ovarian cancer syndrome  
hereditary fructose intolerance syndrome  
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
hereditary sensory and autonomic neuropathy type 2A  
hereditary sensory and autonomic neuropathy type 2B  
hereditary sensory and autonomic neuropathy type 5  
hereditary sensory and autonomic neuropathy type 6  
hereditary sensory and autonomic neuropathy type 8  
hereditary sensory neuropathy type 2C  
hereditary sensory neuropathy type 4  
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 62  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hermansky-Pudlak syndrome +   
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
herpes zoster oticus 
Herrmann Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hhhh Syndrome 
HID Syndrome  
high pressure neurological syndrome 
Hirata disease 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
HIV Enteropathy 
HIV Wasting Syndrome  
HIV-Associated Lipodystrophy Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Horner's syndrome +  
Hoyeraal Hreidarsson Syndrome  
Humeroradial Multiple Synostosis Syndrome 
Humeroradial Synostosis with Craniofacial Anomalies 
Hunt's Syndrome 
Hunter Carpenter Macdonald Syndrome 
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Huntington's Disease-Like Syndrome  
HUPRA Syndrome  
Hutterite Cerebroosteonephrodysplasia Syndrome 
hydrolethalus syndrome +   
hydrophthalmos +   
hyper IgE recurrent infection syndrome 2  
hyper IgE recurrent infection syndrome 3  
hyper IgE recurrent infection syndrome 4  
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperekplexia 4  
hypereosinophilic syndrome +   
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
hypermobility syndrome 
Hyperostosis Frontalis Interna +  
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
Hypertelorism +   
hypertelorism, microtia, facial clefting syndrome 
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypoglossia-Hypodactylia 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypoplastic left heart syndrome +   
Hypospadias-Mental Retardation Syndrome 
hypothyroidism +   
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
hypotonia-cystinuria syndrome  
hypotrichosis 10 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Follicularis Atrichia Photophobia Syndrome  
Ichthyosis Prematurity Syndrome  
Idiopathic Short Stature, X-Linked  
Iida Kannari Syndrome 
Iliotibial Band Syndrome 
IMAGe syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immune Reconstitution Inflammatory Syndrome 
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
inappropriate ADH syndrome +   
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +   
Incomplete Sertoli Cell-Only Syndrome 
infancy electroclinical syndrome +   
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
inflammatory bowel disease 25  
inflammatory bowel disease 28  
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intermediate spinal muscular atrophy  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis syndrome +   
Irons Bhan Syndrome 
irritable bowel syndrome  
Islet Cell Tumor Syndrome 
Isodicentric Chromosome 15 Syndrome  
isolated hyperchlorhidrosis  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 8  
isolated sulfite oxidase deficiency  
Isotretinoin Embryopathy Like Syndrome 
IVIC syndrome  
Jaccoud's syndrome 
Jackson-Weiss syndrome  
Jaffer Beighton Syndrome 
Jagell Holmgren Hofer Syndrome 
Jalili syndrome  
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Jet Lag Syndrome 
JMP syndrome  
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Johnson Neuroectodermal Syndrome 
Johnston Aarons Schelley Syndrome 
Jones Hersh Yusk Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Juberg Hayward Syndrome 
Judge Misch Wright Syndrome 
junctional epidermolysis bullosa Herlitz type  
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Jung Wolff Back Stahl Syndrome 
juvenile polyposis syndrome +   
Kabuki syndrome +   
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kallmann syndrome +   
Kantaputra Gorlin Syndrome 
Kaplan Plauchu Fitch Syndrome 
Kaplowitz Bodurtha syndrome 
Kapur Toriello Syndrome 
Karak Syndrome  
Karandikar Maria Kamble Syndrome 
karyomegalic interstitial nephritis  
Kasabach-Merritt Syndrome +   
Kashani Strom Utley Syndrome 
Kashin-Beck Disease  
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
Kawasaki disease  
KBG syndrome  
Kearns-Sayre syndrome  
Keipert Syndrome  
Kennerknecht Sorgo Oberhoffer Syndrome 
Kennerknecht Vogel Syndrome 
Kenny-Caffey Syndrome +   
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome  
Keratoconus and Congenital Hip Dysplasia 
Keutel Syndrome  
King Denborough Syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleine-Levin syndrome 
Kleiner Holmes Syndrome 
Klinefelter's syndrome  
Klippel-Feil syndrome +   
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Klippel-Trenaunay syndrome +  
Kluver-Bucy syndrome +  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Knobloch Syndrome  
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter Tonz Syndrome  
Konigsmark Knox Hussels Syndrome 
Koone Rizzo Elias Syndrome 
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kotzot-Richter Syndrome 
Kousseff Nichols Syndrome 
Kowarski Syndrome  
Kozlowski Brown Hardwick Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kozlowski Warren Fisher Syndrome 
Kozlowski-Krajewska Syndrome 
Krasnow Qazi Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kufor-Rakeb syndrome  
Kumar Levick Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuster Syndrome 
Kuzniecky Andermann Syndrome 
kwashiorkor 
Lachiewicz Sibley Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Lafora disease  
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Lambert-Eaton myasthenic syndrome  
Lambotte Syndrome 
Landau-Kleffner syndrome  
Landy Donnai Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Larsen syndrome  
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
Laryngo Onycho Cutaneous Syndrome  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
late-adult onset retinitis pigmentosa 
lateral medullary syndrome +   
lateral meningocele syndrome  
Laurence Prosser Rocker Syndrome 
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Lazy Leukocyte Syndrome 
Le Marec Bracq Picaud Syndrome 
Leber congenital amaurosis 1  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 2  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
Legius Syndrome  
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lemierre's syndrome 
LEOPARD syndrome +   
Leri-Weill dyschondrosteosis  
Leriche Syndrome 
Lesch-Nyhan syndrome +   
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
lethal congenital contracture syndrome +   
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Levator Syndrome 
Li-Fraumeni syndrome +   
Lichtenstein Syndrome 
Liddle syndrome +   
Light Fixation Seizure Syndrome 
Limb-Mammary Syndrome  
Linear Skin Defects with Multiple Congenital Anomalies 2  
locked-in syndrome 
Loeys-Dietz syndrome +   
long QT syndrome +   
Loose Anagen Hair Syndrome +   
Lopes Gorlin Syndrome 
Lopes-Maciel-Rodan Syndrome  
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Lubs Syndrome  
Lujan Fryns Syndrome  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Luscan-Lumish syndrome  
Lutembacher's syndrome 
Lutz Richner Landolt Syndrome 
lymphedema-distichiasis syndrome +   
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Lynch Lee Murday syndrome 
Lyngstadaas Syndrome 
Lysine Malabsorption Syndrome 
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
macrocephaly-autism syndrome  
Macrophage Activation Syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Maffucci syndrome 
Majeed Syndrome  
Malabsorption Syndromes +   
Malignant Carcinoid Syndrome +  
Mallory-Weiss Syndrome 
Malocclusion and Short Stature 
Malouf Syndrome  
Mammary-Digital-Nail Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Manouvrier Syndrome 
Manz Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Hypermobility Syndrome 
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
Marsden Syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martinez-Frias Syndrome 
Martsolf syndrome  
MASA syndrome  
MASS Syndrome  
Massa Casaer Ceulemans Syndrome 
MAST syndrome  
Masters-Allen syndrome 
Maternally Inherited Leigh Syndrome  
Mauriac Syndrome  
Maxillofacial Abnormalities +   
Maxillofacial Dysostosis 
May-Thurner Syndrome 
McCune Albright syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
McPherson Robertson Cammarano Syndrome 
Meacham Winn Culler Syndrome  
Meckel-Like Cerebrorenodigital Syndrome 
meconium aspiration syndrome  
Medial Medullary Syndrome 
Medial Tibial Stress Syndrome 
median arcuate ligament syndrome 
MEDNIK syndrome  
megaconial type congenital muscular dystrophy  
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megakaryoblastic Leukemia of Down Syndrome  
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Mehta Lewis Patton Syndrome 
Meier-Gorlin syndrome +   
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
Meige syndrome 
Meigs Syndrome 
melanoma and neural system tumor syndrome  
Melanoma-Pancreatic Cancer Syndrome  
MELAS syndrome +   
Melhem Fahl Syndrome 
Melkersson-Rosenthal syndrome 
MEND Syndrome  
Mengel Konigsmark Syndrome 
Menke-Hennekam Syndrome +   
Menkes disease +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
MERRF/MELAS Overlap Syndrome  
Mesomelia-Synostoses Syndrome 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metabolic Syndrome +   
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
Methionine Malabsorption Syndrome 
Meyenburg-Altherr-Uehlinger Syndrome 
Michelin Tire Baby Syndrome +   
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
microcephaly +   
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microdontia Hypodontia Short Stature 
Micromelic Dwarfism Fryns Type 
microphthalmia +   
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
microphthalmia with limb anomalies  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
microvillus inclusion disease  
middle lobe syndrome  
midface dysplasia 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miles-Carpenter syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirizzi Syndrome 
Mitchell-Riley Syndrome  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
mitochondrial trifunctional protein deficiency  
Miura type epiphyseal chondrodysplasia  
mixed connective tissue disease  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
Mobius syndrome +   
Mollica Pavone Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
monofixation syndrome 
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mosaic Variegated Aneuploidy Syndrome +   
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
mucosulfatidosis  
Muenke syndrome  
Muir-Torre syndrome  
mulibrey nanism  
Muller Barth Menger Syndrome 
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple chemical sensitivity  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple epiphyseal dysplasia +   
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
Multiple Hamartoma Syndrome +   
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome +   
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
multiple pterygium syndrome +   
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
muscular dystrophy-dystroglycanopathy +   
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myelodysplastic syndrome +   
myofascial pain syndrome +   
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Myopathy, Cataract, Hypogonadism Syndrome 
N syndrome 
Nablus Mask-Like Facial Syndrome 
Naegeli-Franceschetti-Jadassohn syndrome  
Naguib-Richieri-Costa Syndrome 
nail-patella syndrome +   
Nakajo Syndrome  
Nakamura Osame syndrome 
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nathalie Syndrome 
Native American myopathy  
Nelson syndrome 
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal abstinence syndrome 
neonatal diabetes mellitus with congenital hypothyroidism  
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
nephronophthisis +   
nephrotic syndrome +   
nephrotic syndrome type 1  
nephrotic syndrome type 10  
nephrotic syndrome type 11  
nephrotic syndrome type 12  
nephrotic syndrome type 13  
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
nephrotic syndrome type 17  
nephrotic syndrome type 18  
nephrotic syndrome type 19  
nephrotic syndrome type 2  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
Nephrotic Syndrome with Ocular Anomalies 
nerve compression syndrome +   
Nestor-Guillermo Progeria Syndrome  
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Neurofibromatosis-Noonan Syndrome  
neurogenic arthrogryposis multiplex congenita +   
Neutropenic Enterocolitis  
Neutrophil Immunodeficiency Syndrome  
nevoid basal cell carcinoma syndrome +   
Nezelof syndrome 
NF1 Microduplication Syndrome 
NGLY1-deficiency  
Nguyen Syndrome 
Nicolaides Baraitser Syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Nijmegen breakage syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
Nisch syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome 
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
nonphotosensitive trichothiodystrophy +   
Noonan Like Syndrome +   
Noonan syndrome +   
Noonan syndrome 2  
Norman-Roberts syndrome  
Novak Syndrome 
O'Donnell Pappas Syndrome  
O'DONNELL-LURIA-RODAN SYNDROME  
Obesity Hypoventilation Syndrome 
Occipital Cortical Malformations  
oculoauricular syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
oculocutaneous albinism +   
Oculodental Syndrome Rutherfurd Syndrome 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculomaxillofacial Dysostosis  
Oculootofacial Dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Oculotrichodysplasia 
Odontodysplasia +   
Odontoma Dysphagia Syndrome 
Odontomicronychial Dysplasia 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Oguchi disease-1  
Oguchi disease-2  
Ohdo syndrome +   
OI/EDS Combined Syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
Omenn syndrome  
omodysplasia +   
Omodysplasia 1  
Onat Syndrome 
Opitz Reynolds Fitzgerald syndrome 
Opitz Trigonocephaly Syndrome  
Opitz-GBBB syndrome +   
Opsismodysplasia  
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
Optic Atrophy Spastic Paraplegia Syndrome 
Orbital Margin, Hypoplasia of 
ornithine translocase deficiency  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft +   
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome +   
orofaciodigital syndrome V  
Orstavik Lindemann Solberg Syndrome  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteoglophonic dysplasia  
Osteolysis Syndrome Recessive 
Osteopenic Nonfracture Syndrome  
osteoporosis-pseudoglioma syndrome  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
ovarian hyperstimulation syndrome  
Paganini-Miozzo Syndrome  
Pagon Stephan Syndrome 
Paine Syndrome 
Palant Cleft Palate Syndrome 
palindromic rheumatism 
Pallister Killian Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Palmer Pagon Syndrome 
Pancoast tumor +  
pantothenate kinase-associated neurodegeneration +   
PAPA syndrome  
Papillon-Lefevre disease +   
Parana Hard Skin Syndrome 
Paraneoplastic Syndromes +   
PARC Syndrome 
Parkinson's disease 14  
Parkinson's disease 15  
Parkinson's disease 19A  
Parkinson's disease 2  
Parkinson's disease 20  
Parkinson's disease 23  
Parkinson's disease 6  
Parkinson's disease 7  
Partial 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 
patellofemoral pain syndrome 
Patterson Pseudoleprechaunism Syndrome 
Patterson Stevenson Syndrome +   
Pavone Fiumara Rizzo Syndrome 
Pearson syndrome  
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
peeling skin syndrome +   
Pellagra like Syndrome 
Pelvis-Shoulder Dysplasia 
Pena Shokeir Syndrome Type 2 
Pendred syndrome  
pentosuria  
Penttinen-Aula Syndrome  
periodic limb movement disorder 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Perlman syndrome  
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
Perrault syndrome +   
Perry syndrome  
persian gulf syndrome  
persistent fetal circulation syndrome  
persistent hyperplastic primary vitreous +   
persistent Mullerian duct syndrome  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Peutz-Jeghers syndrome  
PFAPA Syndrome  
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Rockelein Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHACE Association 
PHARC syndrome  
Pheochromocytoma Islet Cell Tumor Syndrome 
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierson syndrome  
pigment dispersion syndrome  
PILAROWSKI-BJORNSSON SYNDROME  
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pitt-Hopkins-like syndrome 2  
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
Plagiocephaly +   
Platybasia +  
Plica syndrome 
Plummer-Vinson Syndrome  
Podder-Tolmie Syndrome 
POEMS syndrome 
poikiloderma with neutropenia  
Pointer Syndrome 
Poland syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polycystic ovary syndrome +   
Polydactyly Myopia Syndrome 
Polydysspondyly 
Polyendocrine-Polyneuropathy Syndrome  
polymyalgia rheumatica  
Polyosteolysis-Hyperostosis Syndrome 
popliteal pterygium syndrome +   
Porcine Postweaning Multisystemic Wasting Syndrome 
Porcine Reproductive and Respiratory Syndrome 
PORETTI-BOLTSHAUSER SYNDROME  
post-cardiac arrest syndrome 
Post-Concussion Syndrome 
post-thrombotic syndrome 
postaxial acrofacial dysostosis  
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
postcholecystectomy syndrome 
Posterior Exchondrosis of Pinna 
Posterior Leukoencephalopathy Syndrome  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
Postthrombotic Syndrome 
postural orthostatic tachycardia syndrome  
Potato Nose  
Potter's syndrome 
Poult Enteritis Mortality Syndrome 
Powell Chandra Saal Syndrome 
Powell Venencie Gordon syndrome 
Ppm-X Syndrome 
Prader-Willi syndrome +   
Prader-Willi-Like Syndrome  
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
Preauricular Fistulae, Congenital 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Preeyasombat Varavithya Syndrome 
Premature Aging, Okamoto Type 
Premature Ovarian Failure 10  
Prepapillary Vascular Loops 
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome 
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
Primrose Syndrome  
progeria +   
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
progressive myoclonus epilepsy 10  
progressive myoclonus epilepsy 1A  
progressive myoclonus epilepsy 1B  
progressive myoclonus epilepsy 3  
progressive myoclonus epilepsy 4  
progressive myoclonus epilepsy 6  
progressive myoclonus epilepsy 8  
progressive myoclonus epilepsy 9  
progressive pseudorheumatoid arthropathy of childhood  
Propofol Infusion Syndrome  
Proportionate Dwarfism, with Hip Dislocation 
prothrombin deficiency +   
Proud Syndrome  
prune belly syndrome +   
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Pseudo-Zellweger Syndrome 
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
pseudobulbar palsy +  
Pseudotrisomy 13 Syndrome 
pseudoxanthoma elasticum +   
psoriatic arthritis  
PSPH deficiency  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pubic Bone Dysplasia 
Pupillary Membrane, Persistence of 
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Radio Renal Syndrome 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Raine Syndrome  
Rajab Syndrome  
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
recessive dystrophic epidermolysis bullosa  
Recombinant Chromosome 8 Syndrome 
Refeeding Syndrome 
Reginato Schiapachasse Syndrome 
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
renal hypomagnesemia 5 with ocular involvement  
Renal Nutcracker Syndrome 
restless legs syndrome +   
reticular dysgenesis  
Retinal Dysplasia +   
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa with or without situs inversus  
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Reynolds Syndrome  
Rh deficiency syndrome  
rhizomelic chondrodysplasia punctata +   
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Rhizomelic Syndrome 
RHYNS Syndrome  
Richards-Rundle Syndrome 
Richieri Costa Da Silva Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Richter's syndrome 
Riddle syndrome  
Ridges-off-the-end Syndrome 
right atrial isomerism  
rigid spine muscular dystrophy 1  
Riley-Day syndrome +   
Ring Chromosome 14 Syndrome 
Ring Chromosome 20 Syndrome 
Ring Chromosome 4 Syndrome 
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 1  
Roberts syndrome  
Robinow Sorauf Syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Rodrigues Blindness 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Rombo syndrome 
Rommen Mueller Sybert Syndrome 
Rosenthal-Kloepfer Syndrome 
Rosselli-Gulienetti Syndrome 
Rothmund-Thomson syndrome +   
Rowley-Rosenberg Syndrome 
Roy Maroteaux Kremp Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein Taybi like Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Rudd Klimek Syndrome 
Rudiger Syndrome 
Ruijs-Aalfs syndrome  
Ruvalcaba Churesigaew Myhre Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Saal Bulas Syndrome 
Sabinas Brittle Hair Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Agenesis Syndrome 
Saito Kuba Tsuruta Syndrome 
Sakati-Nyhan syndrome 
Salcedo Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Samson Gardner Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sandifer Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Sao Paulo MCA/MR Syndrome 
SAPHO syndrome  
Satoyoshi Syndrome 
Saul Wilkes Stevenson syndrome 
SAUL-WILSON SYNDROME  
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
SC phocomelia syndrome  
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schimke immuno-osseous dysplasia  
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schlegelberger Grote Syndrome 
Schmid-Fraccaro Syndrome 
schneckenbecken dysplasia  
Schnitzler syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schopf-Schulz-Passarge Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schuurs-Hoeijmakers syndrome  
Schwartz Cohen-Addad Lambert Syndrome 
Schwartz-Jampel syndrome 1  
Schwartz-Lelek Syndrome  
Schweitzer Kemink Graham Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
scimitar syndrome +   
sclerosteosis 1  
sclerosteosis 2  
Scott syndrome  
sea-blue histiocytosis  
seasonal affective disorder 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Second Metatarsal-Metacarpal Syndrome 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
Sensorineural Deafness and Migraine  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
Seres-Santamaria Arimany Muniz Syndrome 
Serotonin Syndrome  
Sertoli cell-only syndrome +   
Sessile Serrated Polyposis Cancer Syndrome  
severe acute respiratory syndrome  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Severe Growth Restriction with Distinctive Facies  
Sezary's disease  
Shaheen Syndrome  
Shaken Baby Syndrome 
Shapiro Syndrome 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Sheehan syndrome 
short bowel syndrome  
short QT syndrome +   
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
SHORT syndrome  
shoulder impingement syndrome 
Shprintzen Omphalocele Syndrome 
SHUKLA-VERNON SYNDROME  
Shwachman-Diamond syndrome  
sick building syndrome  
sick sinus syndrome +   
sickle cell anemia +   
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Sillence Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simian Acquired Immunodeficiency Syndrome 
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Sinus Tarsi Syndrome 
sitosterolemia +   
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sjogren's syndrome +   
Sjogren-Larsson syndrome +   
Sjogren-Larsson-like Syndrome 
Sjögren-Mikulicz Syndrome  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Skin Fragility-Woolly Hair Syndrome  
Skraban-Deardorff Syndrome  
Slavotinek Pike Mills Hurst Syndrome 
Slipped Capital Femoral Epiphyses 
Slit Ventricle Syndrome 
Slti Salem Syndrome 
Sly syndrome  
Small-For-Size Syndrome  
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Sneddon syndrome  
Sohval Soffer Syndrome 
Sonoda Syndrome 
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia with Kallmann Syndrome 
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 9  
Spinal Dysplasia, Anhalt Type 
spinal muscular atrophy with progressive myoclonic epilepsy  
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
spondylocarpotarsal synostosis syndrome  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type  
Spondyloepiphyseal Dysplasia, Stanescu Type  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Spranger Schinzel Myers Syndrome 
STANKIEWICZ-ISIDOR SYNDROME  
Steel Syndrome  
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stevens-Johnson syndrome  
Stevenson-Carey Syndrome 
Stewart Treves Syndrome 
Stickler syndrome +   
Stiff Skin Syndrome  
Stiff-Person syndrome  
Stocco dos Santos Syndrome  
Stoelinga de Koomen Davis Syndrome 
Stoll Alembik Dott Syndrome 
Stoll Levy Francfort Syndrome 
Storm Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
Stromme syndrome  
Structural Heart Defects and Renal Anomalies Syndrome  
Stuve-Wiedemann Syndrome  
subclavian steal syndrome 
sudden infant death syndrome +   
Sudden Unexpected Nocturnal Death Syndrome 
Summitt Syndrome 
SUNCT Syndrome 
superior mesenteric artery syndrome +  
Superior Vena Cava Syndrome  
Supernumerary Tooth +  
supine hypotensive syndrome 
Susac Syndrome 
Sweeney-Cox syndrome  
Sweet Syndrome  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Systemic Inflammatory Response Syndrome +   
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Tabatznik Syndrome 
Takao VCF Syndrome  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
TARP Syndrome  
TATTON-BROWN-RAHMAN SYNDROME  
Taurodontism +  
Taurodontism, Microdontia, and Dens Invaginatus 
Taylor's syndrome 
Teebi Kaurah Syndrome 
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Teeth, Odd Shapes of 
Tel Hashomer Camptodactyly Syndrome 
Telecanthus +   
Telfer Sugar Jaeger Syndrome 
Temple-Baraitser syndrome  
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy Syndrome  
Tenorio Syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
tethered spinal cord syndrome 
Tetraphocomelia-Thrombocytopenia Syndrome 
Tetrasomy X 
Thai Symphalangism Syndrome 
Thakker Donnai Syndrome 
thalassemia +   
thanatophoric dysplasia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thompson Baraitser Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Absent Ulnar Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Thyrocerebral-Retinal Syndrome 
thyroid hormone resistance syndrome +   
Tietz syndrome  
Tietze's syndrome  
Tn polyagglutination syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth agenesis +   
tooth and nail syndrome  
torsion dystonia 17 
torsion dystonia 2  
torsion dystonia with onset in infancy 
Townes-Brocks syndrome +   
toxic encephalopathy +   
Tracheobronchopathia Osteoplastica 
Tranebjaerg Svejgaard syndrome 
transient bullous dermolysis of the newborn  
transient global amnesia 
Treft Sanborn Carey Syndrome 
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Trichothiodystrophy Syndromes +   
trigeminal neuralgia  
trimethylaminuria  
Triple X Syndrome 
triple-A syndrome  
Trisomy 18-Like Syndrome 
Trisomy 22 Mosaicism Syndrome 
Troyer syndrome  
Trueb Burg Bottani Syndrome 
Tsukahara Syndrome 
Tucker Syndrome 
Tukel Syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome  
Tunglang Savage Bellman Syndrome 
Turcot Syndrome  
Turner syndrome +   
Turnpenny-Fry Syndrome  
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
Ulnar Nerve Compression Syndromes +  
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Upington Disease 
Upton Young Syndrome 
Urban Schosser Spohn Syndrome 
urethral syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
UV-sensitive syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL association  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome 
Van der Woude syndrome +   
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloes Van Maldergem Marneffe Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
vertebral artery insufficiency +  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vogt-Koyanagi-Harada disease  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome 
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Walker Dyson Syndrome 
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Warfarin Syndrome 
Warsaw breakage syndrome  
Wasting Syndrome +   
Waterhouse-Friderichsen syndrome +  
Weaver syndrome  
Weill-Marchesani syndrome +   
Weinstein Kliman Scully Syndrome 
Weismann Netter Syndrome 
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
Wellesley Carmen French Syndrome 
Wells Jankovic Syndrome 
Wells Syndrome 
Werner syndrome +   
Wernicke-Korsakoff syndrome 
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Platelet Syndrome 
White-Sutton syndrome  
Whyte Murphy Fallon Sly syndrome 
Whyte Murphy Syndrome 
Widow's Peak Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren Region Duplication Syndrome 
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 
Wilson-Turner syndrome  
Winchester Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Wissler's syndrome 
Wittwer Syndrome 
Wolcott-Rallison syndrome  
Wolfram syndrome +   
Wolfram syndrome 1  
Wolfram syndrome 2  
Woodhouse-Sakati Syndrome  
Woods Black Norbury Syndrome 
Woods Leversha Rogers Syndrome 
Worster Drought Syndrome  
Worth's syndrome  
Wright Dyck Syndrome 
Wrinkly Skin Syndrome  
WT Limb Blood Syndrome 
Wyburn Mason's Syndrome 
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
xeroderma pigmentosum +   
XFE progeroid syndrome  
Xia-Gibbs syndrome  
yellow nail syndrome +  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
Yorifuji Okuno Syndrome 
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Young Syndrome 
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zika virus congenital syndrome 
Zimmerman Laband Syndrome +   
Zori Stalker Williams Syndrome 
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: Cerebral, ocular, dental, auricular, and skeletal syndrome ;   cerebral, ocular, dental, auricular, and skeletal anomalies syndrome ;   cerebral, ocular, dental, auricular, skeletal anomalies syndrome ;   cerebro-oculo-dento-auriculo-skeletal syndrome
Primary IDs: MESH:C536434
Alternate IDs: DOID:9007679 ;   OMIM:600373 ;   RDO:0002027
Xrefs: GARD:1418 ;   ORDO:1458
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/25574826

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