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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
16Q24.3 Microdeletion Syndrome  
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
2-aminoadipic 2-oxoadipic aciduria  
22q11 Deletion Syndrome +   
3-hydroxy-3-methylglutaryl-CoA lyase deficiency  
3-hydroxyisobutryl-CoA hydrolase deficiency  
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 3  
46,XY sex reversal 5  
46,XY sex reversal 7  
46,XY sex reversal 8  
47, XYY Syndrome  
49,XXXXX Syndrome  
5-Nucleotidase Syndrome 
7p2 Monosomy Syndrome 
Aagenaes syndrome  
Aarskog syndrome +   
Aase Smith Syndrome 
ABCD syndrome  
Abderhalden-Kaufmann-Lignac Syndrome  
abetalipoproteinemia +   
ablepharon macrostomia syndrome  
Abruzzo-Erickson syndrome  
Abuse Dwarfism Syndrome 
aceruloplasminemia  
achalasia microcephaly syndrome 
Achard syndrome 
Achard-Thiers Syndrome 
acheiropody  
Achenbach syndrome 
achondrogenesis type IA  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
Ackerman Syndrome 
Acneiform Eruptions +   
acrocallosal syndrome +   
acrocapitofemoral dysplasia  
acrocardiofacial syndrome 
Acromegaloid Facial Appearance Syndrome 
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
acromesomelic dysplasia-4  
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 +   
adenine phosphoribosyltransferase deficiency  
adiaspiromycosis 
Adie syndrome 
Adrenogenital Syndrome +   
adult respiratory distress syndrome  
adult spinal muscular atrophy  
agammaglobulinemia 1  
agammaglobulinemia 2  
agammaglobulinemia 3  
agammaglobulinemia 4  
agammaglobulinemia 6  
agammaglobulinemia 7  
agammaglobulinemia 8B  
agammaglobulinemia 9  
AGAT deficiency  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
agenesis of the corpus callosum with peripheral neuropathy  
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 +   
Alazami Syndrome  
Alazami-Yuan Syndrome  
Albinism Deafness Syndrome 
Aldred Syndrome 
Alice in Wonderland Syndrome 
Alien Hand Syndrome 
Alkuraya-Kucinskas syndrome  
Allan-Herndon-Dudley syndrome  
allergic cutaneous vasculitis +   
Aloi Tomasini Isaia Syndrome 
alopecia universalis +   
alopecia, neurologic defects, and endocrinopathy syndrome  
alopecia-mental retardation syndrome +   
alopecia-mental retardation syndrome 1  
alopecia-mental retardation syndrome 2 
alopecia-mental retardation syndrome 3 
alopecia-mental retardation syndrome 4  
Alpers-Huttenlocher syndrome +   
alpha thalassemia-X-linked intellectual disability syndrome  
alpha-2-plasmin inhibitor deficiency  
Alport syndrome +   
Alsing Syndrome 
Alstrom syndrome  
Alves Castelo dos Santos Syndrome 
AMED 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 1J  
amelogenesis imperfecta type 2A1  
amelogenesis imperfecta type 2A6  
amelogenesis imperfecta type 3C  
Ameloonychohypohidrotic Syndrome 
Amniotic Band Syndrome +  
amyotrophic lateral sclerosis type 1  
anauxetic dysplasia 1  
anauxetic dysplasia 2  
anauxetic dysplasia 3  
ancylostomiasis +  
androgen insensitivity syndrome +   
Angelman syndrome  
Angelucci's syndrome 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosis +   
Anomalous Coracoclavicular Joint 
Anophthalmia Plus Syndrome 
Ansell Bywaters Elderking Syndrome 
anterior segment dysgenesis 2 +   
anterior segment dysgenesis 7  
anterior segment dysgenesis 8  
anterior spinal artery syndrome 
Anticholinergic Syndrome 
antiphospholipid syndrome +   
antisynthetase syndrome  
antithrombin III deficiency  
Antley-Bixler syndrome +   
Antley-Bixler syndrome with disordered steroidogenesis  
Aortic Arch Syndromes +   
Aortic Coarctation +   
aortic valve disease 1  
aortic valve disease 3  
Aortico-Ventricular Tunnel 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
aplasia of lacrimal and salivary glands  
apparent mineralocorticoid excess syndrome  
Arboleda-Tham syndrome  
ARC syndrome +   
AREDYLD Syndrome 
Arena Syndrome 
Arima Syndrome 
Armfield syndrome  
Arnold Stickler Bourne Syndrome 
arrhythmogenic right ventricular cardiomyopathy +   
Arroyo Garcia Cimadevilla Syndrome 
arterial tortuosity syndrome  
Arthralgia +   
arthritis +   
arthrogryposis multiplex congenita +   
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
articular cartilage disease +   
Arts syndrome  
aseptic meningitis  
Asperger syndrome  
asphyxiating thoracic dystrophy +   
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Asrar Facharzt Haque Syndrome  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
Athabaskan brainstem dysgenesis syndrome  
Atkin Syndrome  
atransferrinemia  
atrial standstill 2  
atrichia with papular lesions  
Aughton Syndrome 
Auriculocondylar Syndrome +   
Ausems Wittebol-Post Hennekam Syndrome 
autoimmune disease of skin and connective tissue +   
autoimmune interstitial lung, joint, and kidney disease  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
Autonomic Dysreflexia 
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome  
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive Alport syndrome  
autosomal recessive centronuclear myopathy +   
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease 1  
autosomal recessive chronic granulomatous disease 2  
autosomal recessive chronic granulomatous disease 3  
autosomal recessive chronic granulomatous disease 4  
autosomal recessive chronic granulomatous disease 5  
autosomal recessive congenital bilateral absence of vas deferens  
autosomal recessive congenital ichthyosis +   
autosomal recessive congenital nystagmus  
autosomal recessive craniometaphyseal dysplasia  
Autosomal Recessive Cutis Laxa +   
autosomal recessive cutis laxa type III +   
autosomal recessive distal hereditary motor neuronopathy +   
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hyaline body myopathy  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive intellectual developmental disorder +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive limb-girdle muscular dystrophy +   
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 Peripheral Neuropathy with or without Impaired Intellectual Development  
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 spondyloepiphyseal dysplasia tarda  
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type 
autosomal recessive thrombophilia due to protein C deficiency  
autosomal recessive thrombophilia due to protein S deficiency  
autosomal recessive type IV Ehlers-Danlos syndrome 
autosomal recessive Whistling face syndrome 
Autosomal Recessive Woolly Hair +   
Axenfeld-Rieger syndrome +   
axial spondylometaphyseal dysplasia  
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 +   
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 
Beardwell Syndrome 
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Becker disease  
Becker Nevus Syndrome  
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Beemer-Langer syndrome  
Behcet's syndrome arthropathy 
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 +   
bent bone dysplasia syndrome 2  
Berk-Tabatznik Syndrome 
Bernard-Soulier syndrome +   
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
BH4-deficient hyperphenylalaninemia B  
BH4-deficient hyperphenylalaninemia C  
BH4-deficient hyperphenylalaninemia D  
Bhaskar Jagannathan Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
bilateral frontoparietal polymicrogyria  
bilateral parasagittal parieto-occipital polymicrogyria  
bilateral perisylvian polymicrogyria +   
biotinidase deficiency +   
Birk-Barel syndrome  
Birk-Landau-Perez Syndrome  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
blepharocheilodontic syndrome +   
blepharophimosis-impaired intellectual development syndrome  
Bloom syndrome  
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 
Borjeson-Forssman-Lehmann syndrome  
Bork Stender Schmidt Syndrome 
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
Boylan Dew Greco Syndrome 
brachial plexus neuritis +   
brachycephaly, trichomegaly, and developmental delay  
Brachydactylous Dwarfism Mseleni Type 
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
bradyopsia +   
brain small vessel disease 3  
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 
brittle cornea syndrome 1  
brittle cornea syndrome 2  
Brown-Sequard syndrome 
Brown-Vialetto-Van Laere syndrome +   
Brown-Vialetto-Van Laere syndrome 1  
Brown-Vialetto-Van Laere syndrome 2  
Bruck syndrome +   
Brugada syndrome +   
Brunner syndrome  
Brunoni Syndrome 
Budd-Chiari syndrome +   
Burn-McKeown syndrome  
Burnett Schwartz Berberian Syndrome  
burning mouth syndrome +  
bursitis +   
Buschke-Ollendorff syndrome  
C syndrome  
CAHMR Syndrome 
Calabro Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
Camptodactyly Syndrome Guadalajara Type +  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Canavan disease  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Capgras syndrome 
capillary leak syndrome +   
Caplan's syndrome 
CAPOS Syndrome  
carbamoyl phosphate synthetase I deficiency disease  
carboxypeptidase N deficiency  
Cardiac Valvular Dysplasia +   
Cardiac-Urogenital Syndrome  
Cardio-Renal Syndrome  
Cardioacrofacial Dysplasia +   
Cardioauditory Syndrome of Sanchez Cascos 
Cardiocranial Syndrome 
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
carnitine-acylcarnitine translocase deficiency  
Caroli syndrome  
Carpenter syndrome +   
Carrington Syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cartwright Nelson Fryns Syndrome 
Carvajal syndrome +   
cataract 11 multiple types +   
cataract 13 with adult i phenotype  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 22 multiple types  
cataract 33  
cataract 35 
cataract 36  
cataract 38  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 48  
cataract 9 multiple types  
Cataract Microcornea Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cauda equina syndrome 
Cayler Cardiofacial Syndrome  
CD3epsilon deficiency  
CD3gamma deficiency 
CEDNIK syndrome  
Central Cord Syndrome 
cercarial dermatitis 
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar atrophy, visual impairment, and psychomotor retardation  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay  
cerebellar hypoplasia +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
cerebellofaciodental syndrome  
cerebral creatine deficiency syndrome +   
cerebral folate receptor alpha deficiency  
cerebrocostomandibular syndrome  
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME  
Cerebrooculonasal Syndrome 
Cervical Rib Syndrome +  
chancroid +  
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 2A2B  
Charcot-Marie-Tooth disease type 2B1  
Charcot-Marie-Tooth disease type 2B2  
Charcot-Marie-Tooth disease type 2EE  
Charcot-Marie-Tooth disease type 2R  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4A  
Charcot-Marie-Tooth disease type 4B1  
Charcot-Marie-Tooth disease type 4B2  
Charcot-Marie-Tooth disease type 4B3  
Charcot-Marie-Tooth disease type 4C  
Charcot-Marie-Tooth disease type 4D  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 4F  
Charcot-Marie-Tooth disease type 4G  
Charcot-Marie-Tooth disease type 4H  
Charcot-Marie-Tooth disease type 4J  
Charcot-Marie-Tooth disease type 4K  
CHARGE syndrome  
Chediak-Higashi syndrome +   
Chemke Oliver Mallek Syndrome 
Chiari-Frommel Syndrome 
chiasmal syndrome 
Chilaiditi Syndrome 
CHILD syndrome  
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
CHIME syndrome  
Chitayat Meunier Hodgkinson Syndrome 
Chitayat Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Baraitser Syndrome 
Chitty Hall Webb Syndrome 
chondrodysplasia punctata +   
chondrodysplasia with joint dislocations gPAPP type  
chondrodysplasia-pseudohermaphroditism syndrome  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
CHOPS Syndrome  
choreaacanthocytosis  
chromosomal deletion syndrome +   
chromosomal duplication syndrome +   
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 1q21.1 duplication syndrome  
CHROMOSOME 2p16.3 DELETION SYNDROME  
chromosome 3q29 microdeletion syndrome  
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4q- Syndrome 
Chromosome 6 Ring Syndrome 
chromosome 6pter-p24 deletion syndrome 
Chromosome 7 Ring Syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xp11.3 Deletion Syndrome 
Chromosome Xq Duplication Syndrome 
chronic atrial and intestinal dysrhythmia  
chronic fatigue syndrome  
chronic ulcer of skin +   
Chudley-Mccullough syndrome  
Chudley-Rozdilsky Syndrome 
ciliopathy +   
Circumvallate Placenta Syndrome 
Ciuffo Syndrome 
CK syndrome  
CLAPO Syndrome  
Clark-Baraitser syndrome  
classic dopamine transporter deficiency syndrome  
classic galactosemia  
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME  
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
cleft palate-lateral synechia syndrome  
Cleidorhizomelic Syndrome 
CLOVES syndrome  
COACH syndrome +   
Cockayne syndrome +   
CODAS syndrome  
coenurosis 
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 cellular and humoral immune defects with granulomas  
combined D-2- and L-2-hydroxyglutaric aciduria  
combined deficiency of vitamin K-dependent clotting factors 1  
combined deficiency of vitamin K-dependent clotting factors 2  
combined malonic and methylmalonic acidemia  
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +   
combined oxidative phosphorylation deficiency 1  
combined oxidative phosphorylation deficiency 10  
combined oxidative phosphorylation deficiency 11  
combined oxidative phosphorylation deficiency 12  
combined oxidative phosphorylation deficiency 13  
combined oxidative phosphorylation deficiency 14  
combined oxidative phosphorylation deficiency 15  
combined oxidative phosphorylation deficiency 16  
combined oxidative phosphorylation deficiency 17  
combined oxidative phosphorylation deficiency 18  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 20  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 22  
combined oxidative phosphorylation deficiency 23  
combined oxidative phosphorylation deficiency 24  
combined oxidative phosphorylation deficiency 25  
combined oxidative phosphorylation deficiency 26  
combined oxidative phosphorylation deficiency 27  
combined oxidative phosphorylation deficiency 28  
combined oxidative phosphorylation deficiency 29  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 30  
combined oxidative phosphorylation deficiency 31  
combined oxidative phosphorylation deficiency 32  
combined oxidative phosphorylation deficiency 33  
combined oxidative phosphorylation deficiency 34  
combined oxidative phosphorylation deficiency 35  
combined oxidative phosphorylation deficiency 36  
combined oxidative phosphorylation deficiency 37  
combined oxidative phosphorylation deficiency 38  
combined oxidative phosphorylation deficiency 39  
combined oxidative phosphorylation deficiency 4  
combined oxidative phosphorylation deficiency 40  
combined oxidative phosphorylation deficiency 41  
combined oxidative phosphorylation deficiency 42  
combined oxidative phosphorylation deficiency 43  
combined oxidative phosphorylation deficiency 44  
combined oxidative phosphorylation deficiency 45  
combined oxidative phosphorylation deficiency 46  
combined oxidative phosphorylation deficiency 47  
combined oxidative phosphorylation deficiency 48  
combined oxidative phosphorylation deficiency 49  
combined oxidative phosphorylation deficiency 5  
combined oxidative phosphorylation deficiency 50  
combined oxidative phosphorylation deficiency 51  
combined oxidative phosphorylation deficiency 52  
combined oxidative phosphorylation deficiency 53  
combined oxidative phosphorylation deficiency 54  
combined oxidative phosphorylation deficiency 56  
combined oxidative phosphorylation deficiency 57  
combined oxidative phosphorylation deficiency 7  
combined oxidative phosphorylation deficiency 8  
combined oxidative phosphorylation deficiency 9  
common variable immunodeficiency +   
compartment syndrome +   
complex regional pain syndrome +  
Compton-North congenital myopathy  
cone-rod dystrophy 21  
cone-rod dystrophy 22  
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  
Congenital Bone Marrow Failure Syndromes +   
congenital central hypoventilation syndrome +   
congenital diarrhea 5 with tufting enteropathy  
congenital diarrhea 7 with exudative enteropathy  
congenital disorder of deglycosylation 1  
congenital disorder of deglycosylation 2  
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 fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 5  
congenital generalized lipodystrophy +   
congenital glutamine deficiency  
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital heart defects, hamartomas of tongue, and polysyndactyly  
Congenital Heart Defects, Multiple Types +   
Congenital Heart Defects, X-Linked +   
congenital hereditary endothelial dystrophy of cornea  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital hypotrichosis with juvenile macular dystrophy  
congenital lactase deficiency  
congenital leptin deficiency  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
congenital malabsorptive diarrhea 4  
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy with cataracts and intellectual disability  
congenital muscular dystrophy-dystroglycanopathy type A +   
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 myopathy 10B  
congenital myopathy 14  
congenital myopathy 17  
congenital myopathy 18  
congenital myopathy 19  
congenital myopathy 1A +   
congenital myopathy 20  
congenital myopathy 21  
congenital myopathy 22A  
congenital myopathy 22B  
congenital myopathy 2B  
congenital myopathy 5  
congenital myopathy 6  
congenital myopathy 9A  
congenital myopathy 9B  
congenital nongoitrous hypothyroidism 1  
congenital nongoitrous hypothyroidism 4  
congenital nongoitrous hypothyroidism 7  
Congenital Pain Insensitivity +   
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
congenital stationary night blindness 1B  
congenital stationary night blindness 1C  
congenital stationary night blindness 1D  
congenital stationary night blindness 1E  
congenital stationary night blindness 1F  
congenital stationary night blindness 1G  
congenital stationary night blindness 1H  
congenital sucrase-isomaltase deficiency  
Conn's syndrome 
Conotruncal Cardiac Defects  
contagious pustular dermatitis 
Contracture +   
contractures, pterygia, and spondylocarpotarsal fusion syndrome +   
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B  
Cor Triatriatum 
Corneal Cerebellar Syndrome 
corneal dystrophy-perceptive deafness syndrome  
Cornelia de Lange syndrome +   
Corneodermatoosseous Syndrome 
Coronary Vessel Anomalies +   
Coronary-Subclavian Steal Syndrome 
corpus callosum agenesis-abnormal genitalia syndrome  
cortical dysplasia-focal epilepsy syndrome  
corticosterone methyloxidase deficiency 1  
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY  
cortisone reductase deficiency 1  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Cowden-Like Syndrome 
Coxoauricular Syndrome 
Cracked Tooth Syndrome 
Crane-Heise Syndrome 
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
Cranioacrofacial Syndrome 
cranioectodermal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1  
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 Mental Retardation Clefting Syndrome 
craniotubular dysplasia Ikegawa type  
Cree Mental Retardation Syndrome 
crescentic glomerulonephritis  
CREST syndrome  
Crigler-Najjar syndrome +   
Crisscross Heart 
Crome Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crush Syndrome  
Cryopyrin-Associated Periodic Syndromes +   
Cryptomicrotia Brachydactyly Syndrome 
Crystal Arthropathies +   
Cubital Tunnel 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 
Cyclic Vomiting Syndrome +   
Cyprus Facial Neuromusculoskeletal Syndrome 
cystathioninuria  
cystic fibrosis +   
cystinosis +   
cytochrome P450 oxidoreductase deficiency  
D-2-hydroxyglutaric aciduria 1  
D-glyceric aciduria  
Daentl Towsend Siegel Syndrome 
Dahlberg Borer Newcomer Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
Daneman Davy Mancer Syndrome 
Davenport Donlan Syndrome 
Davis Lafer Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome  
De Quervain disease 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
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  
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
dengue shock syndrome 
Dennis Fairhurst Moore Syndrome 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermal Fibrosis  
Dermal Ridges, Nelson Syndrome 
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
DeSanto-Shinawi syndrome  
developmental and epileptic encephalopathy 101  
developmental and epileptic encephalopathy 102  
developmental and epileptic encephalopathy 105  
developmental and epileptic encephalopathy 106  
developmental and epileptic encephalopathy 107  
developmental and epileptic encephalopathy 110  
developmental and epileptic encephalopathy 12  
developmental and epileptic encephalopathy 15  
developmental and epileptic encephalopathy 16  
developmental and epileptic encephalopathy 18  
developmental and epileptic encephalopathy 21  
developmental and epileptic encephalopathy 23  
developmental and epileptic encephalopathy 25  
developmental and epileptic encephalopathy 28  
developmental and epileptic encephalopathy 29  
developmental and epileptic encephalopathy 3  
developmental and epileptic encephalopathy 31B  
developmental and epileptic encephalopathy 34  
developmental and epileptic encephalopathy 35  
developmental and epileptic encephalopathy 37  
developmental and epileptic encephalopathy 38  
developmental and epileptic encephalopathy 39  
developmental and epileptic encephalopathy 40  
developmental and epileptic encephalopathy 44  
developmental and epileptic encephalopathy 48  
developmental and epileptic encephalopathy 49  
developmental and epileptic encephalopathy 50  
developmental and epileptic encephalopathy 51  
developmental and epileptic encephalopathy 52  
developmental and epileptic encephalopathy 53  
developmental and epileptic encephalopathy 55  
developmental and epileptic encephalopathy 60  
developmental and epileptic encephalopathy 61  
developmental and epileptic encephalopathy 63  
developmental and epileptic encephalopathy 68  
developmental and epileptic encephalopathy 71  
developmental and epileptic encephalopathy 75  
developmental and epileptic encephalopathy 76  
developmental and epileptic encephalopathy 80  
developmental and epileptic encephalopathy 81  
developmental and epileptic encephalopathy 82  
developmental and epileptic encephalopathy 83  
developmental and epileptic encephalopathy 84  
developmental and epileptic encephalopathy 86  
developmental and epileptic encephalopathy 88  
developmental and epileptic encephalopathy 89  
developmental and epileptic encephalopathy 95  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
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, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Devriendt syndrome 
dextro-looped transposition of the great arteries +   
dextrocardia +   
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
dialysis disequilibrium syndrome 
Dianzani Autoimmune Lymphoproliferative Syndrome 
Diarrhea prodrome + Hemolytic-Uremic Syndrome  
diastrophic dysplasia +   
dicarboxylic aminoaciduria  
DICER1 syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Diets-Jongmans Syndrome  
diffuse infiltrative lymphocytosis syndrome 
dihydropyrimidinase deficiency  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
dilated cardiomyopathy 2C  
dilated cardiomyopathy 2D  
dilated cardiomyopathy 2E  
dilated cardiomyopathy 2F  
dilated cardiomyopathy 2G  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
dimethylglycine dehydrogenase deficiency  
Dincsoy Salih Patel Syndrome 
dipetalonemiasis 
diphthamide deficiency syndrome +   
diphthamide deficiency syndrome 1  
distal arthrogryposis type 5D  
distal arthrogryposis type 7  
distal myopathy with anterior tibial onset  
Distal Trisomy 10q Syndrome 
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
Donohue syndrome  
DOORS syndrome  
DOPA-responsive dystonia  
Drachtman Weinblatt Sitarz Syndrome 
dropped head syndrome 
Drug Hypersensitivity Syndrome  
dry eye syndrome +   
Duane retraction syndrome +   
Duane-radial ray syndrome  
Dubowitz syndrome  
Duker Weiss Siber syndrome 
Duplication 4p Syndrome 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dursun Syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dyggve-Melchior-Clausen disease +   
Dykes Markes Harper Syndrome 
dysplastic nevus syndrome  
dystonia 16  
dystonia 22, adult-onset  
dystonia 22, juvenile-onset  
dystonia 27  
dystonia 31  
dystonia 32  
dystonia 33  
dystonia 35, childhood-onset  
dystonia 37, early-onset with striatal lesions  
Eagle Syndrome 
early-onset epilepsy 2  
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
EAST syndrome  
Ebstein anomaly  
ectodermal dysplasia +   
ectodermal dysplasia 10B  
ectodermal dysplasia 11B  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 15  
ectodermal dysplasia 4  
ectodermal dysplasia 5 
ectodermal dysplasia 6 
ectodermal dysplasia 7  
ectodermal dysplasia 8 
ectodermal dysplasia 9  
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia-Skin Fragility Syndrome  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectopia Cordis 
ectopia lentis with ectopia of pupil  
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 
Ectrodactyly-Cleft Palate Syndrome 
Eczematous Skin Diseases +   
EDICT Syndrome  
Edinburgh Malformation Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
Ehlers-Danlos syndrome cardiac valvular type  
Ehlers-Danlos syndrome classic-like 1  
Ehlers-Danlos syndrome classic-like 2  
Ehlers-Danlos syndrome dermatosparaxis type  
Ehlers-Danlos syndrome kyphoscoliotic type 1  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Ehlers-Danlos syndrome musculocontractural type 1  
Ehlers-Danlos syndrome musculocontractural type 2  
Ehlers-Danlos syndrome spondylodysplastic type 1  
Ehlers-Danlos syndrome spondylodysplastic type 2  
Eiken syndrome  
Eisenmenger Complex  
Elastosis Perforans Serpiginosa 
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Ellis-Van Creveld syndrome +   
Elsahy-Waters syndrome  
Emanuel Syndrome 
empty sella syndrome +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
encephalopathy due to defective mitochondrial and peroxisomal fission 2  
endocrine-cerebro-osteodysplasia syndrome  
endometriosis in scar of skin 
enhanced S-cone syndrome  
enterokinase deficiency  
epidermal nevus +   
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
Erythema +   
erythematosquamous dermatosis 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 4  
erythrokeratodermia variabilis et progressiva 5  
essential fructosuria  
euthyroid sick syndrome  
Evans' syndrome +   
EVEN-PLUS SYNDROME  
exanthem +   
exfoliation syndrome  
eyelid disease +   
FACES Syndrome 
facial dermatosis +   
facial hemiatrophy 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciocardiorenal Syndrome 
factor V deficiency +   
factor VII deficiency  
factor X deficiency  
factor XII deficiency  
factor XIII deficiency +   
Failed Back Surgery Syndrome 
familial adenomatous polyposis 2  
familial adenomatous polyposis 3  
familial adenomatous polyposis 4  
familial adult myoclonic epilepsy 5  
Familial Anomalous Origin of Right Pulmonary Artery 
Familial Antiphospholipid Syndrome 
familial apolipoprotein C-II deficiency  
familial benign fleck retina  
familial erythrocytosis 2  
familial hemophagocytic lymphohistiocytosis 1 
familial hemophagocytic lymphohistiocytosis 2  
familial hemophagocytic lymphohistiocytosis 3  
familial hemophagocytic lymphohistiocytosis 4  
familial hepatic adenoma  
Familial Hyperchylomicronemia Syndrome  
familial hyperinsulinemic hypoglycemia 1  
familial hyperinsulinemic hypoglycemia 2  
familial hyperinsulinemic hypoglycemia 4  
familial hyperinsulinemic hypoglycemia 8  
familial hypertryptophanemia  
familial isolated trichomegaly  
familial lipase maturation factor 1 deficiency  
familial lipoprotein lipase deficiency +   
familial partial lipodystrophy type 5  
familial partial lipodystrophy type 6  
familial renal glucosuria  
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 S  
Fanconi anemia complementation group T  
Fanconi anemia complementation group U  
Fanconi anemia complementation group V  
Fanconi anemia complementation group W  
Fanconi renotubular syndrome 2  
Fanconi renotubular syndrome 5  
Fanconi syndrome +   
Fanconi-Bickel syndrome  
Fara Chlupackova Syndrome 
fatal infantile hypertonic myofibrillar myopathy  
Faundes-Banka Syndrome  
Faye-Petersen Ward Carey Syndrome 
Fazio-Londe disease  
Feingold syndrome +   
Feingold Trainer Syndrome 
Feline Acquired Immunodeficiency Syndrome 
Felty's syndrome 
Female Athlete Triad Syndrome 
Femoracetabular Impingement 
Femoral Facial Syndrome 
Femur Fibula Ulna Syndrome 
fetal akinesia deformation sequence syndrome +   
fetal akinesia deformation sequence syndrome 1  
fetal akinesia deformation sequence syndrome 2  
fetal akinesia deformation sequence syndrome 3  
fetal akinesia deformation sequence syndrome 4  
fetal alcohol syndrome  
fetal encasement syndrome  
Fetal Hydantoin Syndrome 
Fetal Inflammatory Response Syndrome  
Fetal Trimethadione Syndrome 
fetal valproate syndrome 
FG syndrome +   
fibrochondrogenesis 1  
fibrochondrogenesis 2  
fibrogenesis imperfecta ossium 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
fibular hypoplasia and complex brachydactyly  
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 segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 9  
Foix-Chavany-Marie Syndrome 
Foot Diseases +   
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Foster-Kennedy syndrome 
Fountain Syndrome 
foveal hypoplasia 1  
foveal hypoplasia 2  
fragile X syndrome +   
Frank-Ter Haar syndrome  
An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (DO)
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 +   
frontonasal dysplasia +   
frontonasal dysplasia 1  
frontonasal dysplasia 2  
frontonasal dysplasia 3  
Frontoocular Syndrome 
Fryns Hofkens Fabry Syndrome 
Fryns Syndrome  
Fuchs' heterochromic uveitis 
Fuhrmann syndrome  
fumarase deficiency  
Furukawa Takagi Nakao Syndrome 
GABRIELE-DE VRIES SYNDROME  
galactose epimerase deficiency  
Galloway-Mowat syndrome +   
Galloway-Mowat syndrome 1  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
Game Friedman Paradice Syndrome 
gamma-glutamyl transpeptidase deficiency  
Gamstorp-Wohlfart syndrome  
ganglion or cyst of synovium/tendon/bursa 
gangliosidosis +   
GAPO syndrome  
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gardner-Diamond Syndrome 
Garret Tripp Syndrome 
Gas Bloat Syndrome 
Gastrocutaneous Syndrome 
Gaucher's disease type III +   
Gay Feinmesser Cohen Syndrome 
gelatinous drop-like corneal dystrophy  
geleophysic dysplasia 1  
Gemignani Syndrome 
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 1  
Gilles de la Tourette syndrome +   
Gillespie syndrome  
Gitelman syndrome  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glucocorticoid deficiency 1  
glucose transporter type 1 deficiency syndrome +   
glucose-galactose malabsorption  
glutamate formiminotransferase deficiency  
glutamate-cysteine ligase deficiency  
glutaric acidemia I  
glutaric acidemia type 3  
glutathione synthetase deficiency of erythrocytes  
glutatione synthetase deficiency with 5-oxoprolinuria  
glycine encephalopathy +   
glycogen storage disease Ia  
glycogen storage disease Ib  
glycogen storage disease Ic  
glycogen storage disease II +   
glycogen storage disease III +   
glycogen storage disease IV +   
glycogen storage disease IXC  
glycogen storage disease V  
glycogen storage disease VI  
glycogen storage disease VII  
glycogen storage disease XV  
Glycosylphosphatidylinositol Biosynthesis Defect 25  
GNE myopathy  
Goldberg-Shprintzen syndrome  
Goldblatt Viljoen Syndrome 
Goldenhar syndrome +   
Goldstein Hutt Syndrome 
Gollop Coates Syndrome 
GOMBO Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Goodpasture syndrome +   
Gordon Holmes syndrome  
Gorham's disease +   
Gorlin Bushkell Jensen Syndrome 
Gorlin Chaudhry Moss Syndrome 
GRACILE syndrome  
Granddad Syndrome 
Grange Syndrome  
Grant Syndrome 
granulomatosis with polyangiitis +   
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 hormone insensitivity syndrome with immune dysregulation 1  
Growth Hormone Insensitivity with Immune Dysregulation +   
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Guillain-Barre syndrome +   
Gurrieri Sammito Bellussi Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hagemoser Weinstein Bresnick Syndrome 
hair disease +   
HAIR-AN syndrome 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hallermann-Streiff syndrome +  
Hallux Limitus 
Hallux Rigidus 
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 
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  
Heart Defects Limb Shortening 
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES  
heart septal defect +   
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Heimler syndrome 1  
Heimler syndrome 2  
HELIX syndrome  
HELLP syndrome  
hemarthrosis +   
hemolytic-uremic syndrome +   
Hemorrhagic Shock and Encephalopathy Syndrome 
hemorrhoid +   
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
hepatic encephalopathy +   
hepatic venoocclusive disease with immunodeficiency  
hepatopulmonary syndrome  
hepatorenal syndrome  
hereditary alpha tryptasemia syndrome 
hereditary angioedema type I  
hereditary arterial and articular multiple calcification syndrome +   
hereditary folate malabsorption  
hereditary fructose intolerance syndrome  
Hereditary Neoplastic 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 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 59  
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 70  
hereditary spastic paraplegia 72A  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 78  
hereditary spastic paraplegia 79B  
hereditary spastic paraplegia 81  
hereditary spastic paraplegia 82  
hereditary spastic paraplegia 83  
hereditary spastic paraplegia 84  
hereditary spastic paraplegia 85  
hereditary spastic paraplegia 86  
hereditary spastic paraplegia 87  
hereditary spastic paraplegia 89  
hereditary spastic paraplegia 90B  
hereditary spastic paraplegia 9B  
hereditary spherocytosis type 1  
hereditary spherocytosis type 3  
hereditary spherocytosis type 5  
Hernandez Aguirre-Negrete Syndrome 
Hernandez Fragoso Syndrome 
herpes zoster oticus 
Herrmann Syndrome 
Hersh Podruch Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hhhh Syndrome 
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
HID Syndrome  
high molecular weight kininogen deficiency  
high myopia-sensorineural deafness syndrome  
high pressure neurological syndrome 
Hirata disease 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
HIV Enteropathy 
HIV Wasting Syndrome  
HIV-Associated Lipodystrophy Syndrome  
HMG-CoA synthase 2 deficiency  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome +   
Holzgreve-Wagner-Rehder syndrome 
homocystinuria-megaloblastic anemia cblE type  
homocystinuria-megaloblastic anemia cblG type  
Hordnes Engebretsen Knudtson syndrome 
Horner's syndrome +  
Hoyeraal Hreidarsson Syndrome  
Humeroradial Multiple Synostosis Syndrome 
Hunt's Syndrome 
Hunter Carpenter Macdonald Syndrome 
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Huntington's Disease-Like Syndrome  
HUPRA Syndrome  
hyaline fibromatosis syndrome  
hydrarthrosis 
hydrolethalus syndrome +   
hydroxykynureninuria  
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 +   
hyperferritinemia-cataract syndrome  
Hyperimmunoglobulin G1(A1) Syndrome 
hyperinsulinism +   
Hyperkeratosis-Hyperpigmentation Syndrome 
hypermethioninemia due to adenosine kinase deficiency  
hypermobility syndrome 
hyperphosphatemic familial tumoral calcinosis +   
hyperprolinemia type 1  
hyperprolinemia type 2  
hypertelorism, microtia, facial clefting syndrome 
hypertension and brachydactyly syndrome  
hypervalinemia and hyperleucine-isoleucinemia  
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 15  
hypomyelinating leukodystrophy 17  
hypomyelinating leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 20  
hypomyelinating leukodystrophy 21  
hypomyelinating leukodystrophy 23  
hypomyelinating leukodystrophy 26  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7  
hypomyelinating leukodystrophy 8  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatasia +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
hypoplastic left heart syndrome +   
hypoplastic or aplastic tibia with polydactyly  
hypoplastic right 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  
hypotrichosis 10 
hypotrichosis 15  
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
hypotrichosis-lymphedema-telangiectasia syndrome +   
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Prematurity Syndrome  
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis  
IFAP Syndrome +   
Iliotibial Band Syndrome 
IMAGe syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immune Reconstitution Inflammatory Syndrome 
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 12  
immunodeficiency 15B  
immunodeficiency 16  
immunodeficiency 17  
immunodeficiency 18  
immunodeficiency 19  
immunodeficiency 20  
immunodeficiency 22  
immunodeficiency 23  
immunodeficiency 24  
immunodeficiency 25  
immunodeficiency 26  
immunodeficiency 27A  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 30  
immunodeficiency 31B  
immunodeficiency 32B  
immunodeficiency 35  
immunodeficiency 37  
immunodeficiency 38  
immunodeficiency 40  
immunodeficiency 41  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 46  
immunodeficiency 48  
immunodeficiency 51  
immunodeficiency 52  
immunodeficiency 53  
immunodeficiency 54  
immunodeficiency 55  
immunodeficiency 56  
immunodeficiency 57  
immunodeficiency 58  
immunodeficiency 59  
immunodeficiency 61  
immunodeficiency 62  
immunodeficiency 63  
immunodeficiency 64  
immunodeficiency 65  
immunodeficiency 66  
immunodeficiency 69  
immunodeficiency 7  
immunodeficiency 71  
immunodeficiency 72  
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
immunodeficiency 79  
immunodeficiency 9  
immunodeficiency with hyper IgM type 3  
immunodeficiency with hyper IgM type 5  
immunodeficiency with hyper-IgM type 2  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
inappropriate ADH syndrome +   
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +   
Incomplete Sertoli Cell-Only Syndrome 
infancy electroclinical syndrome +   
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
infantile liver failure syndrome +   
infantile liver failure syndrome 1  
infantile parkinsonism-dystonia 2  
Infectious Skin Diseases +   
inflammatory bowel disease 25  
inflammatory bowel disease 28  
inflammatory poikiloderma with hair abnormalities and acral keratoses  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
intellectual developmental disorder with cardiac arrhythmia  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
intellectual developmental disorder with short stature and behavioral abnormalities  
intellectual disability and myopathy syndrome  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
intermediate spinal muscular atrophy  
interstitial lung disease 1  
Iridocorneal Endothelial Syndrome +  
iridogoniodysgenesis 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 Noncompaction of the Ventricular Myocardium +   
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  
jaw-winking syndrome  
Jet Lag Syndrome 
Johanson-Blizzard syndrome  
Johnson Munson Syndrome 
Johnston-Aarons-Schelley Syndrome 
Joint Deformities, Acquired 
Joint Instability +   
Joint Loose Bodies 
Jones Hersh Yusk Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Judge Misch Wright Syndrome 
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous  
junctional epidermolysis bullosa Herlitz type +   
junctional epidermolysis bullosa non-Herlitz type +   
junctional epidermolysis bullosa with pyloric atresia  
Jung Wolff Back Stahl 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 
karyomegalic interstitial nephritis  
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 +   
Kenny-Caffey syndrome type 1  
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
keratosis +   
keratosis pilaris atrophicans +   
Keutel Syndrome  
Kilquist Syndrome  
Kimura disease 
King Denborough syndrome  
KINSSHIP syndrome  
Kleeblattschaedel Syndrome 
Kleefstra syndrome +   
Kleine-Levin syndrome  
Kleiner Holmes Syndrome 
Klinefelter syndrome  
Klippel-Feil syndrome +   
Klippel-Feil syndrome 2  
Klippel-Feil syndrome 4  
Klippel-Trenaunay syndrome  
Kluver-Bucy syndrome +  
Knobloch Syndrome +   
Kocher-Debre-Semelaigne Syndrome 
Kohlschutter-Tonz syndrome  
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 
KURY-ISIDOR SYNDROME  
Kuster Majewski Hammerstein Syndrome 
Kuster Syndrome 
Kuzniecky Andermann Syndrome 
kwashiorkor 
Lachiewicz Sibley Syndrome 
LADD syndrome +   
Lafora disease +   
Lamb-Shaffer Syndrome  
Lambert Syndrome 
Lambotte Syndrome 
Landy Donnai Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
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  
Leber plus disease +   
leg dermatosis 
Leichtman Wood Rohn Syndrome 
Lelis Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Leri Pleonosteosis 
Leriche Syndrome 
Lesch-Nyhan syndrome +   
lethal congenital contracture syndrome +   
Lethal Faciocardiomelic Dysplasia 
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
leukoencephalopathy with vanishing white matter +   
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Levator Syndrome 
Levocardia 
Leydig cell hypoplasia +   
Li-Campeau Syndrome  
Liang-Wang Syndrome  
Liberfarb Syndrome  
Liddle syndrome +   
Limb-Mammary Syndrome  
lipomatosis +   
lissencephaly 4  
lissencephaly 5  
lissencephaly 6  
lissencephaly 7 with cerebellar hypoplasia  
lissencephaly 8  
localized scleroderma +   
locked-in syndrome 
LofgrenÂ’s syndrome 
loiasis 
long QT syndrome +   
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 +   
lymphoproliferative syndrome 1  
lymphoproliferative syndrome 2  
Lynch Lee Murday syndrome 
Lyngstadaas Syndrome 
lysosomal acid lipase deficiency +   
Maccario Mena Weir Syndrome 
MacDermot Winter Syndrome 
MacKay Shek Carr Syndrome 
Macleod Fraser syndrome 
macrocephaly-autism syndrome  
Macroepiphyseal Dysplasia, McAlister Coe Type 
Macrophage Activation Syndrome  
Maffucci syndrome  
Mahvash disease  
Majeed Syndrome  
mal de Meleda  
Malabsorption Syndromes +   
Malignant Carcinoid Syndrome +  
Mallory-Weiss Syndrome 
Mammary-Digital-Nail Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
mandibulofacial dysostosis with alopecia  
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Manz Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Hypermobility Syndrome  
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Maroteaux Fonfria Syndrome 
Marshall-Smith syndrome  
Marsili syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martinez-Frias Syndrome  
Martsolf Syndrome +   
MASA syndrome  
MASS Syndrome  
Massa Casaer Ceulemans Syndrome 
MAST syndrome  
Masters-Allen syndrome 
mastocytosis +   
Maternally Inherited Leigh Syndrome  
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 syndrome 13  
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  
Meester-Loeys syndrome  
megaconial type congenital muscular dystrophy  
megacystis-microcolon-intestinal hypoperistalsis syndrome +   
megalencephalic leukoencephalopathy with subcortical cysts 1  
megalencephalic leukoencephalopathy with subcortical cysts 2A  
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  
Melnick-Needles syndrome  
Membranous Subaortic Stenosis 
MEND syndrome  
Mengel Konigsmark Syndrome 
Menke-Hennekam Syndrome +   
Menkes disease +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Merlob Grunebaum Reisner Syndrome 
MERRF Syndrome +   
Mesomelia-Synostoses Syndrome 
Metabolic Skin Diseases +   
Metabolic Syndrome +   
Metatarsalgia +  
methemoglobinemia and ambiguous genitalia  
Methionine Malabsorption Syndrome 
Mexican Cardiomelic Dysplasia 
Meyenburg-Altherr-Uehlinger Syndrome 
Michels Caskey Syndrome 
microcephalic osteodysplastic primordial dwarfism type I  
microcephalic osteodysplastic primordial dwarfism type II  
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
microcephaly and chorioretinopathy 1  
microcephaly and chorioretinopathy 2  
microcephaly and chorioretinopathy 3  
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Epilepsy, and Diabetes Syndrome +   
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, seizures, and developmental delay  
microcephaly, short stature, and limb abnormalities  
Microcephaly-Capillary Malformation Syndrome  
microcephaly-micromelia syndrome  
microphthalmia with limb anomalies  
microvillus inclusion disease +   
Microvillus Inclusion Disease 2  
middle lobe syndrome  
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 
mismatch repair cancer syndrome +   
Mitchell-Riley Syndrome  
mitochondrial complex IV deficiency nuclear type 1  
mitochondrial complex IV deficiency nuclear type 10  
mitochondrial complex IV deficiency nuclear type 11  
mitochondrial complex IV deficiency nuclear type 12  
mitochondrial complex IV deficiency nuclear type 13  
mitochondrial complex IV deficiency nuclear type 14  
mitochondrial complex IV deficiency nuclear type 15  
mitochondrial complex IV deficiency nuclear type 16  
mitochondrial complex IV deficiency nuclear type 17  
mitochondrial complex IV deficiency nuclear type 18  
mitochondrial complex IV deficiency nuclear type 19  
mitochondrial complex IV deficiency nuclear type 2  
mitochondrial complex IV deficiency nuclear type 20  
mitochondrial complex IV deficiency nuclear type 21  
mitochondrial complex IV deficiency nuclear type 22  
mitochondrial complex IV deficiency nuclear type 23  
mitochondrial complex IV deficiency nuclear type 3  
mitochondrial complex IV deficiency nuclear type 4  
mitochondrial complex IV deficiency nuclear type 6  
mitochondrial complex IV deficiency nuclear type 7  
mitochondrial complex IV deficiency nuclear type 8  
mitochondrial complex IV deficiency nuclear type 9  
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B  
mitochondrial complex V (ATP synthase) deficiency nuclear type 5  
mitochondrial complex V (ATP synthase) deficiency nuclear type 7  
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 16  
mitochondrial DNA depletion syndrome 16B  
mitochondrial DNA depletion syndrome 17  
mitochondrial DNA depletion syndrome 18  
mitochondrial DNA depletion syndrome 19  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 20  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mitochondrial pyruvate carrier deficiency  
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency  
mitochondrial trifunctional protein deficiency +   
mixed connective tissue disease  
Miyoshi muscular dystrophy 1  
Miyoshi muscular dystrophy 3  
MLS syndrome +   
Moebius syndrome +   
Mollica-Pavone-Antener Syndrome 
Moloney Syndrome 
MOMES Syndrome 
mongolian spot 
monofixation syndrome 
Mononen-Karnes-Senac syndrome 
Morgellons Disease 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
mosaic variegated aneuploidy syndrome +   
mosaic variegated aneuploidy syndrome 1  
mosaic variegated aneuploidy syndrome 2  
mosaic variegated aneuploidy syndrome 3  
mosaic variegated aneuploidy syndrome 4  
Mosaic Variegated Aneuploidy Syndrome 5  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
mucolipidosis III alpha/beta +   
mucolipidosis III gamma  
mucopolysaccharidosis Ih  
mucopolysaccharidosis Ih/s  
mucopolysaccharidosis IVA  
mucopolysaccharidosis type IIIA  
mucopolysaccharidosis type IIIB  
mucopolysaccharidosis type IIIC  
mucopolysaccharidosis type IIID  
mucopolysaccharidosis type IVB  
Mucopolysaccharidosis-Plus Syndrome  
mucosulfatidosis  
Muenke syndrome  
Mulchandani-Bhoj-Conlin syndrome 
mulibrey nanism  
Muller Barth Menger Syndrome 
multicentric carpotarsal osteolysis syndrome  
multicentric reticulohistiocytosis 
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple chemical sensitivity  
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple congenital anomalies-hypotonia-seizures syndrome 4  
multiple cutaneous and mucosal venous malformations  
multiple epiphyseal dysplasia 4  
multiple epiphyseal dysplasia 7  
multiple epiphyseal dysplasia with myopia and deafness  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome +   
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
multiple synostoses syndrome +   
multiple system atrophy +   
Multisystemic Smooth Muscle Dysfunction Syndrome  
Mungan Syndrome  
Murine Acquired Immunodeficiency Syndrome  
muscular dystrophy-dystroglycanopathy type B1  
muscular dystrophy-dystroglycanopathy type B15  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B4  
muscular dystrophy-dystroglycanopathy type B5  
muscular dystrophy-dystroglycanopathy type B6  
myelodysplastic syndrome +   
myeloid leukemia associated with Down Syndrome  
Myoectodermal Gonadal Dysgenesis Syndrome  
myofascial pain syndrome +   
myofibrillar myopathy 10  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
myopathy with extrapyramidal signs  
Myopathy, Cataract, Hypogonadism Syndrome 
Myxomatous Mitral Valve Prolapse 1 
Myxomatous Mitral Valve Prolapse 2  
Myxomatous Mitral Valve Prolapse 3  
N-acetylglutamate synthase deficiency  
Nagashima-type palmoplantar keratosis  
Naguib-Richieri-Costa Syndrome 
nail disease +   
nail-patella syndrome +   
Nakajo Syndrome  
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nasu-Hakola disease  
Nathalie Syndrome 
Native American myopathy  
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nelson syndrome 
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 5A  
nemaline myopathy 5B  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
neonatal abstinence syndrome  
neonatal diabetes mellitus with congenital hypothyroidism  
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
neonatal-onset type II citrullinemia  
nephrogenic diabetes insipidus type 2  
Nephrogenic Fibrosing Dermopathy  
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 21  
nephrotic syndrome type 22  
nephrotic syndrome type 23  
nephrotic syndrome type 3  
nephrotic syndrome type 5  
nephrotic syndrome type 6  
nephrotic syndrome type 7  
nephrotic syndrome type 8  
nephrotic syndrome type 9  
nerve compression syndrome +   
Nestor-Guillermo progeria syndrome  
Netherton syndrome  
Neuhauser Daly Magnelli Syndrome 
Neuhauser Eichner Opitz Syndrome 
Neuhauser Syndrome 
Neurocutaneous Syndromes +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
neurodevelopmental disorder with hypotonia and speech delay  
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  
Neurofaciodigitorenal Syndrome 
neurogenic arthropathy +   
neuronal ceroid lipofuscinosis 1  
neuronal ceroid lipofuscinosis 10  
neuronal ceroid lipofuscinosis 11  
neuronal ceroid lipofuscinosis 13  
neuronal ceroid lipofuscinosis 2  
neuronal ceroid lipofuscinosis 3  
neuronal ceroid lipofuscinosis 5  
neuronal ceroid lipofuscinosis 6A  
neuronal ceroid lipofuscinosis 6B  
neuronal ceroid lipofuscinosis 7  
neuronal ceroid lipofuscinosis 8  
neuronal ceroid lipofuscinosis 8 northern epilepsy variant  
neuronal ceroid lipofuscinosis 9 
neurooculocardiogenitourinary syndrome  
Neutropenic Enterocolitis  
Nezelof syndrome 
Nguyen Syndrome 
Nicolaides-Baraitser syndrome  
Nicolau Syndrome 
Nievergelt Syndrome 
Nijmegen breakage syndrome +   
Nizon-Isidor Syndrome  
Noble Bass Sherman Syndrome 
Nodding Syndrome 
Non Ketotic Hyperglycinemia Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects 
noninfectious dermatoses of eyelid +  
Nonkeratan-Sulfate-Excreting Morquio Syndrome 
nonphotosensitive trichothiodystrophy +   
nonphotosensitive trichothiodystrophy 4  
nonphotosensitive trichothiodystrophy 6  
nonphotosensitive trichothiodystrophy 7  
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 9 
Noonan syndrome +   
Noonan syndrome 2  
Noonan syndrome with multiple lentigines +   
Norman-Roberts syndrome  
Novak Syndrome 
nuclear type mitochondrial complex I deficiency 1  
nuclear type mitochondrial complex I deficiency 10  
nuclear type mitochondrial complex I deficiency 11  
nuclear type mitochondrial complex I deficiency 13  
nuclear type mitochondrial complex I deficiency 14  
nuclear type mitochondrial complex I deficiency 15  
nuclear type mitochondrial complex I deficiency 16  
nuclear type mitochondrial complex I deficiency 17  
nuclear type mitochondrial complex I deficiency 18  
nuclear type mitochondrial complex I deficiency 19  
nuclear type mitochondrial complex I deficiency 2  
nuclear type mitochondrial complex I deficiency 20  
nuclear type mitochondrial complex I deficiency 21  
nuclear type mitochondrial complex I deficiency 22  
nuclear type mitochondrial complex I deficiency 23  
nuclear type mitochondrial complex I deficiency 24  
nuclear type mitochondrial complex I deficiency 25  
nuclear type mitochondrial complex I deficiency 26  
nuclear type mitochondrial complex I deficiency 27  
nuclear type mitochondrial complex I deficiency 28  
nuclear type mitochondrial complex I deficiency 29  
nuclear type mitochondrial complex I deficiency 3  
nuclear type mitochondrial complex I deficiency 31  
nuclear type mitochondrial complex I deficiency 32  
nuclear type mitochondrial complex I deficiency 33  
nuclear type mitochondrial complex I deficiency 34  
nuclear type mitochondrial complex I deficiency 35  
nuclear type mitochondrial complex I deficiency 4  
nuclear type mitochondrial complex I deficiency 5  
nuclear type mitochondrial complex I deficiency 6  
nuclear type mitochondrial complex I deficiency 7  
nuclear type mitochondrial complex I deficiency 8  
nuclear type mitochondrial complex I deficiency 9  
O'Donnell-Luria-Rodan Syndrome  
Obesity Hypoventilation Syndrome 
Obesity, Hyperphagia, and Developmental Delay  
Occipital Cortical Malformations  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculocerebrorenal syndrome +   
oculocutaneous albinism +   
Oculodental Syndrome Rutherfurd Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Odontoma Dysphagia Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
Ogden syndrome  
Oguchi disease-1  
Oguchi disease-2  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oligodontia-Colorectal Cancer Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
Omenn syndrome  
omodysplasia 1  
Onat Syndrome 
Opitz Reynolds Fitzgerald syndrome 
Opsoclonus-Myoclonus Syndrome +   
optic atrophy 11  
optic atrophy 6 
optic atrophy 7  
optic atrophy 9  
Optic Atrophy Spastic Paraplegia Syndrome 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
optic disc anomalies with retinal and/or macular dystrophy  
ornithine translocase deficiency  
orofacial cleft +   
orofacial cleft 14 
orofacial cleft 7 +   
orofaciodigital syndrome +   
orofaciodigital syndrome II  
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
orofaciodigital syndrome XIV  
orofaciodigital syndrome XIX  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
orofaciodigital syndrome XVIII  
orofaciodigital syndrome XX  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Oslam syndrome 
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 18  
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 21  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
Osteootohepatoenteric Syndrome  
Osteopenic Nonfracture Syndrome 
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteoporosis-pseudoglioma syndrome  
osteosclerotic metaphyseal dysplasia  
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
otulipenia  
ovarian dysgenesis 1  
ovarian dysgenesis 10  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
ovarian dysgenesis 9  
ovarian hyperstimulation syndrome  
overactive bladder syndrome  
oxoglutarate dehydrogenase deficiency  
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paganini-Miozzo syndrome  
Paget's disease of bone 5  
Pagon Stephan Syndrome 
Paine Syndrome 
Palant Cleft Palate Syndrome 
palindromic rheumatism 
Pallister Killian Syndrome  
Pallister W Syndrome 
Pallister-Hall syndrome +   
Palmer Pagon Syndrome 
palmoplantar keratoderma and woolly hair +   
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
Pancoast tumor +  
pancreatic agenesis 1  
pancreatic agenesis 2  
pantothenate kinase-associated neurodegeneration  
PAPA syndrome  
Papillon-Lefevre disease +   
Papulosquamous Skin Diseases +   
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 25  
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 
patent ductus arteriosus +   
Patterson Pseudoleprechaunism Syndrome 
Patterson Stevenson Syndrome  
Pavone Fiumara Rizzo Syndrome 
Pearson syndrome  
peeling skin syndrome +   
Pellagra like Syndrome 
Pendred syndrome  
pentosuria  
Penttinen-Aula Syndrome  
periodic limb movement disorder  
Periventricular Nodular Heterotopia 7  
Perlman syndrome  
permanent neonatal diabetes mellitus +   
Perniola Krajewska Carnevale Syndrome 
peroxisomal acyl-CoA oxidase deficiency  
Peroxisome biogenesis disorder 10B  
Peroxisome biogenesis disorder 11B  
peroxisome biogenesis disorder 14B  
peroxisome biogenesis disorder 1B  
peroxisome biogenesis disorder 2B  
peroxisome biogenesis disorder 3B  
Peroxisome biogenesis disorder 4B  
Peroxisome biogenesis disorder 5B  
Peroxisome biogenesis disorder 6B  
Peroxisome biogenesis disorder 7B  
Peroxisome biogenesis disorder 8B  
Peroxisome biogenesis disorder 9B  
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 Tietze Welte Syndrome 
phaeohyphomycosis +  
PHARC syndrome  
Pheochromocytoma Islet Cell Tumor Syndrome 
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY  
photosensitive trichothiodystrophy 1  
photosensitive trichothiodystrophy 2  
photosensitive trichothiodystrophy 3  
photosensitivity disease +   
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierson syndrome  
pigment dispersion syndrome  
pigmentation disease +   
Pilarowski-Bjornsson Syndrome  
Pilotto Syndrome 
Pinheiro Freire-Maia Miranda Syndrome 
Piriformis Muscle Syndrome +  
Pitt-Hopkins syndrome +   
Pitt-Hopkins-like syndrome 2  
Pituitary Stalk Interruption Syndrome  
Piussan Lenaerts Mathieu syndrome 
plasminogen deficiency type I  
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 8  
Plica syndrome 
Plummer-Vinson Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome  
poikiloderma with neutropenia  
Pointer Syndrome 
Poland syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polycystic ovary syndrome +   
Polydactyly Myopia Syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polyhydramnios, megalencephaly, and symptomatic epilepsy  
Polyosteolysis-Hyperostosis Syndrome 
pontocerebellar hypoplasia type 11  
pontocerebellar hypoplasia type 12  
pontocerebellar hypoplasia type 13  
pontocerebellar hypoplasia type 14  
pontocerebellar hypoplasia type 15  
pontocerebellar hypoplasia type 16  
pontocerebellar hypoplasia type 1A  
pontocerebellar hypoplasia type 1B  
pontocerebellar hypoplasia type 1C  
pontocerebellar hypoplasia type 1D  
pontocerebellar hypoplasia type 1E  
pontocerebellar hypoplasia type 1F  
pontocerebellar hypoplasia type 2A  
pontocerebellar hypoplasia type 2B  
pontocerebellar hypoplasia type 2C  
pontocerebellar hypoplasia type 2D  
pontocerebellar hypoplasia type 2E  
pontocerebellar hypoplasia type 2F  
poor metabolism of thiopurines +   
Porcine Postweaning Multisystemic Wasting Syndrome  
Porcine Reproductive and Respiratory Syndrome  
PORETTI-BOLTSHAUSER SYNDROME  
post-cardiac arrest syndrome 
Post-Concussion Syndrome 
post-thrombotic syndrome 
postaxial acrofacial dysostosis  
postcholecystectomy syndrome 
Posterior Leukoencephalopathy Syndrome  
postgastrectomy syndrome +  
Postpericardiotomy Syndrome 
postpoliomyelitis syndrome 
postural orthostatic tachycardia syndrome 
Potter's syndrome 
Poult Enteritis Mortality Syndrome 
Powell Chandra Saal Syndrome 
Powell Venencie Gordon syndrome 
Prader-Willi syndrome +   
Prata Libéral Gonçalves Syndrome 
Pre-Excitation Syndromes +   
preaxial polydactyly I  
Preeyasombat Varavithya Syndrome 
Presumed Ocular Histoplasmosis Syndrome  
Prieto syndrome  
primary autosomal recessive microcephaly +   
primary ciliary dyskinesia 38  
primary ciliary dyskinesia 39  
primary ciliary dyskinesia 40  
primary ciliary dyskinesia 41  
primary ciliary dyskinesia 42  
primary ciliary dyskinesia 44  
primary ciliary dyskinesia 45  
primary coenzyme Q10 deficiency 9  
primary hypertrophic osteoarthropathy +   
primary immunodeficiency disease +   
primary ovarian insufficiency 10  
primary ovarian insufficiency 12  
primary ovarian insufficiency 13  
primary ovarian insufficiency 14  
primary ovarian insufficiency 15  
primary ovarian insufficiency 18  
primary ovarian insufficiency 19  
primary ovarian insufficiency 8  
primary ovarian insufficiency 9  
Primrose Syndrome  
progeroid syndrome +   
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +   
progressive familial intrahepatic cholestasis 1  
progressive familial intrahepatic cholestasis 2  
progressive familial intrahepatic cholestasis 3  
progressive familial intrahepatic cholestasis 4  
progressive familial intrahepatic cholestasis 5  
progressive leukoencephalopathy with ovarian failure  
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 osseous heteroplasia  
progressive pseudorheumatoid arthropathy of childhood  
prolidase deficiency  
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome  
Propofol Infusion Syndrome  
proprotein convertase 1/3 deficiency  
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
proteosome-associated autoinflammatory syndrome 4  
proteosome-associated autoinflammatory syndrome 5  
prothrombin deficiency +   
proximal symphalangism +   
prune belly syndrome +   
Prurigo  
Pruritus +   
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Pseudo-Zellweger Syndrome  
Pseudoaminopterin Syndrome 
Pseudoatrophoderma Colli 
pseudobulbar palsy +   
Pseudodiastrophic Dysplasia 
Pseudopyogenic Granuloma 
pseudoxanthoma elasticum +   
Pulmonary Atresia with Intact Ventricular Septum  
pulmonary venoocclusive disease 2  
purine nucleoside phosphorylase deficiency  
pycnodysostosis  
pyridoxine-dependent epilepsy +   
pyruvate kinase deficiency of red cells  
Qazi Markouizos syndrome 
Radio-Renal Syndrome 
Rahman Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rambaud Galian Syndrome 
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Rapp-Hodgkin syndrome  
Rasmussen Johnsen Thomsen Syndrome 
RASopathy +   
Ray Peterson Scott Syndrome 
reactive cutaneous fibrous lesion +   
Reardon Hall Slaney syndrome 
Reardon Wilson Cavanagh Syndrome 
recessive dystrophic epidermolysis bullosa  
Recombinant Chromosome 8 Syndrome 
Refeeding Syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Reginato Schiapachasse Syndrome 
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
Renal Nutcracker Syndrome 
restless legs syndrome +   
restrictive dermopathy 1  
reticular dysgenesis  
retinal cone dystrophy 3B  
retinal dystrophy with leukodystrophy  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome  
retinitis pigmentosa 1  
retinitis pigmentosa 12  
retinitis pigmentosa 14  
retinitis pigmentosa 19  
retinitis pigmentosa 20  
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 45  
retinitis pigmentosa 50  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 59  
retinitis pigmentosa 62  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
retinitis pigmentosa 77  
retinitis pigmentosa 81  
retinitis pigmentosa 84  
retinitis pigmentosa 85  
retinitis pigmentosa 88  
retinitis pigmentosa 90  
retinitis pigmentosa with or without situs inversus  
Retinohepatoendocrinologic Syndrome 
Rett syndrome +   
Revesz syndrome  
Reye syndrome  
Rh deficiency syndrome  
rhizomelic chondrodysplasia punctata +   
Rhizomelic Syndrome 
RHYNS Syndrome  
Richards-Rundle Syndrome 
Richieri Costa Da Silva Syndrome 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Richter's syndrome 
Riddle syndrome  
Ridges-off-the-end Syndrome 
right atrial isomerism  
Right Ventricle Hypoplasia  
rigid spine muscular dystrophy 1  
Riley-Day syndrome +   
ring chromosome 14 syndrome  
ring chromosome 20 syndrome  
Ring Chromosome 4 Syndrome 
Ritscher-Schinzel syndrome 1  
RNASET2-deficient cystic leukoencephalopathy  
Roberts syndrome  
Robinow Sorauf Syndrome  
Robinow syndrome +   
Robinson Miller Bensimon Syndrome 
Roifman Syndrome  
Roifman-Chitayat Syndrome  
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp 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  
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 
Sacral Meningocele Conotruncal Heart Defects 
SADDAN  
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  
sarcosinemia  
Satoyoshi Syndrome 
Say Field Coldwell Syndrome 
Say Meyer Syndrome  
Say Syndrome 
Say-Barber-Miller Syndrome 
scalp dermatosis +   
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Scheie syndrome  
Schimke immuno-osseous dysplasia  
Schimke X-Linked Mental Retardation Syndrome 
Schindler disease +   
Schinzel type phocomelia  
Schlegelberger Grote Syndrome 
Schmid-Fraccaro Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte 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 +   
sclerosteosis 1  
sclerosteosis 2  
Scott syndrome  
Sd(a) POLYAGGLUTINATION SYNDROME  
seasonal affective disorder 
Seaver Cassidy Syndrome 
sebaceous gland disease +   
Seckel syndrome +   
Second Metatarsal-Metacarpal Syndrome 
secondary hypertrophic osteoarthropathy 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selig Benacerraf Greene Syndrome 
Sener Syndrome 
Sengers syndrome  
Senior-Loken syndrome +   
Sensorineural Deafness and Migraine  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
septooptic dysplasia +   
Seres-Santamaria Arimany Muniz Syndrome 
Serotonin Syndrome  
Sertoli cell-only syndrome +   
Sessile Serrated Polyposis Cancer Syndrome  
severe acute respiratory syndrome  
severe combined immunodeficiency with sensitivity to ionizing radiation  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +   
severe congenital neutropenia 3  
severe congenital neutropenia 4 +   
severe congenital neutropenia 5  
severe congenital neutropenia 6  
severe congenital neutropenia 7  
Shaheen Syndrome  
Shaken Baby Syndrome 
Shapiro Syndrome 
Sharma Kapoor Ramji Syndrome 
Shashi-Pena Syndrome  
Sheehan syndrome 
short QT syndrome +   
Short QT Syndrome 1  
Short QT Syndrome 2  
Short QT Syndrome 3  
Short Stature and Locking Fingers 
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2  
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
SHORT syndrome  
short-rib thoracic dysplasia 10 with or without polydactyly  
short-rib thoracic dysplasia 11 with or without polydactyly  
short-rib thoracic dysplasia 13 with or without polydactyly  
short-rib thoracic dysplasia 14 with polydactyly  
short-rib thoracic dysplasia 18 with polydactyly  
short-rib thoracic dysplasia 19 with or without polydactyly  
short-rib thoracic dysplasia 6 with or without polydactyly  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
short-rib thoracic dysplasia 9 with or without polydactyly  
shoulder impingement syndrome  
Shprintzen Omphalocele Syndrome 
Shukla-Vernon syndrome  
sick building syndrome  
sick sinus syndrome +   
sickle cell anemia +   
Siddiqi syndrome  
sideroblastic anemia 5  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Siegler Brewer Carey Syndrome 
Sifrim-Hitz-Weiss syndrome  
Silengo Lerone Pelizza Syndrome 
Sillence Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simian Acquired Immunodeficiency Syndrome 
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Sinus Tarsi Syndrome 
sitosterolemia +   
Sjogren-Larsson syndrome +   
Sjogren-Larsson-like Syndrome 
Sjögren-Mikulicz Syndrome  
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-Fisher Syndrome  
Sohval Soffer Syndrome 
Sonoda Syndrome 
SOST-related sclerosing bone dysplasia  
Sotos syndrome +   
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 8  
Spastic Paraplegia and Evans Syndrome 
spastic paraplegia with deafness 
spastic quadriplegic cerebral palsy 3  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 24  
spermatogenic failure 25  
spermatogenic failure 26  
spermatogenic failure 27  
spermatogenic failure 28  
spermatogenic failure 29  
spermatogenic failure 30  
spermatogenic failure 31  
spermatogenic failure 33  
spermatogenic failure 34  
spermatogenic failure 35  
spermatogenic failure 37  
spermatogenic failure 38  
spermatogenic failure 39  
spermatogenic failure 40  
spermatogenic failure 41  
spermatogenic failure 42  
spermatogenic failure 43  
spermatogenic failure 44  
spermatogenic failure 45  
spermatogenic failure 46  
spermatogenic failure 47  
spermatogenic failure 48  
spermatogenic failure 49  
spermatogenic failure 5  
spermatogenic failure 50  
spermatogenic failure 51  
spermatogenic failure 52  
spermatogenic failure 53  
spermatogenic failure 54  
spermatogenic failure 55  
spermatogenic failure 56  
spermatogenic failure 57  
spermatogenic failure 58  
spermatogenic failure 59  
spermatogenic failure 6  
spermatogenic failure 60  
spermatogenic failure 61  
spermatogenic failure 62  
spermatogenic failure 63  
spermatogenic failure 64  
spermatogenic failure 65  
spermatogenic failure 66  
spermatogenic failure 67  
spermatogenic failure 68  
spermatogenic failure 69  
spermatogenic failure 7  
spermatogenic failure 70  
spermatogenic failure 71  
spermatogenic failure 72  
spermatogenic failure 73  
spermatogenic failure 74  
spermatogenic failure 75  
spermatogenic failure 76  
spermatogenic failure 77  
spermatogenic failure 78  
spermatogenic failure 79  
spermatogenic failure 80  
spermatogenic failure 81  
spermatogenic failure 82  
spermatogenic failure 83  
spermatogenic failure 84  
spermatogenic failure 85  
spermatogenic failure 86  
spermatogenic failure 87  
spermatogenic failure 88  
spermatogenic failure 89  
spermatogenic failure 9  
spermatogenic failure 90  
spermatogenic failure 91  
spermatogenic failure 92  
spermatogenic failure 93  
spermatogenic failure 94  
spermatogenic failure 95  
spinal muscular atrophy with progressive myoclonic epilepsy  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 6  
SPOAN syndrome  
spondyloarthropathy +   
spondylocarpotarsal synostosis syndrome  
spondylocostal dysostosis 1  
Spondylocostal Dysostosis, Autosomal Recessive +   
spondyloepimetaphyseal dysplasia with joint laxity type 1  
spondyloepimetaphyseal dysplasia with joint laxity type 3  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia Kondo-Fu type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondyloepiphyseal dysplasia tarda with intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaepiphyseal dysplasia, short limb-hand type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
spondylometaphyseal dysplasia Sedaghatian type  
spondylometaphyseal dysplasia with cone-rod dystrophy  
spondylometaphyseal dysplasia with corneal dystrophy  
Spranger Schinzel Myers Syndrome 
Stankiewicz-Isidor Syndrome  
Steel Syndrome  
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stevens-Johnson syndrome  
Stewart Treves Syndrome 
Stickler syndrome +   
stiff skin syndrome  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stiff-Person syndrome  
Stocco Dos Santos type X-linked intellectual disability  
Stoelinga-de Koomen-Davis Syndrome 
Stolerman neurodevelopmental syndrome  
Stoll Alembik Dott Syndrome 
Stoll Levy Francfort Syndrome 
Storm Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
Structural Heart Defects and Renal Anomalies Syndrome  
Stuve-Wiedemann Syndrome +   
subclavian steal syndrome 
succinic semialdehyde dehydrogenase deficiency  
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  
supine hypotensive syndrome 
Susac Syndrome 
sweat gland disease +   
Sweeney-Cox syndrome  
Sweet syndrome  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 9  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Turner type  
Synovial Chondromatosis +  
synovitis +   
Systemic Inflammatory Response Syndrome +   
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Tabatznik Syndrome 
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tang Hsi Ryu Syndrome 
TANGO2-related metabolic encephalopathy and arrythmias  
TARP syndrome  
Tatton-Brown-Rahman syndrome  
Taylor's syndrome 
Teebi hypertelorism syndrome +   
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 Disorders +   
Temporomandibular Joint Dysfunction Syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy syndrome  
Tenorio Syndrome  
tenosynovitis +  
terminal osseous dysplasia  
Testicular Anomalies with or without Congenital Heart Disease  
tethered spinal cord syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
tetraamelia syndrome +   
tetraamelia syndrome 1  
tetraamelia syndrome 2  
Tetraphocomelia-Thrombocytopenia Syndrome 
Thai Symphalangism Syndrome 
Thakker Donnai Syndrome 
thalassemia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thompson Baraitser Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thrombocytopenia Absent Ulnar Syndrome 
thrombocytopenia-absent radius syndrome  
Thyrocerebral-Retinal Syndrome 
thyroid dyshormonogenesis 1  
thyroid dyshormonogenesis 2A  
thyroid dyshormonogenesis 3  
thyroid dyshormonogenesis 4  
thyroid dyshormonogenesis 5  
thyroid dyshormonogenesis 6  
thyroid hormone resistance syndrome +   
Tietz syndrome  
Tietze's syndrome  
Tn polyagglutination syndrome  
Tolchin-Le Caignec Syndrome  
Tollner Horst Manzke Syndrome 
Tolosa-Hunt syndrome +  
Tonoki Syndrome 
tooth and nail syndrome  
TORCH syndrome 
torsion dystonia 17 
torsion dystonia 2  
Townes-Brocks syndrome +   
toxic encephalopathy +   
Tranebjaerg Svejgaard syndrome 
transient arthritis +  
transient bullous dermolysis of the newborn  
transient global amnesia 
transient infantile liver failure  
Treacher Collins syndrome +   
Treacher Collins syndrome 2  
Treacher Collins syndrome 3  
Treft Sanborn Carey Syndrome 
Trichodental Syndrome 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
Trichorhinophalangeal Syndrome +   
trichothiodystrophy +   
tricuspid atresia +   
trigeminal neuralgia  
Trilogy of Fallot 
trimethylaminuria  
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
Triple X Syndrome  
triple-A syndrome  
Trisomy 18-Like Syndrome 
Troyer syndrome  
Trueb Burg Bottani Syndrome 
Tsukahara Syndrome  
Tucker Syndrome 
Tukel syndrome 
Tumor Lysis Syndrome  
Tumor Predisposition Syndrome +   
Tunglang Savage Bellman Syndrome 
Turner syndrome +   
Turnpenny-Fry Syndrome  
tyrosinemia type II  
Uhl Anomaly 
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Upton Young Syndrome 
Urban Schosser Spohn Syndrome  
urethral syndrome 
Urioste Martinez-Frias Syndrome 
urocanase deficiency  
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 +   
vascular skin disease +   
Vasquez Hurst Sotos Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Velofacioskeletal Syndrome 
Ventricular Extrasystoles Perodactyly Robin Sequence 
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 
villonodular synovitis +  
visceral heterotaxy +   
Vissers-Bodmer syndrome  
visual impairment and progressive phthisis bulbi  
vitamin D-dependent rickets type 1A  
vitamin D-dependent rickets type 1B  
vitamin D-dependent rickets type 2A  
Vogt-Koyanagi-Harada disease  
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waaler Aarskog Syndrome