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16Q24.3 Microdeletion Syndrome
2-aminoadipic 2-oxoadipic aciduria
22q11 Deletion Syndrome +
3-Methylcrotonyl-CoA carboxylase deficiency +
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 4
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
Abderhalden-Kaufmann-Lignac Syndrome
ablepharon macrostomia syndrome
Abruzzo Erickson Syndrome
Absence of Tibia with Polydactyly
achalasia microcephaly syndrome
acquired immunodeficiency syndrome +
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
Acromegaloid Facial Appearance Syndrome
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromesomelic dysplasia +
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
Acropectorovertebral Dysplasia
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adult respiratory distress syndrome
adult spinal muscular atrophy
agenesis of the corpus callosum with peripheral neuropathy
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aicardi-Goutieres syndrome +
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
Alacrima, Achalasia, and Mental Retardation Syndrome
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
ALKURAYA-KUCINSKAS SYNDROME
Allan-Herndon-Dudley syndrome
Allanson Pantzar McLeod Syndrome +
Aloi Tomasini Isaia Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia-Mental Retardation Syndrome +
alpha thalassemia-X-linked intellectual disability syndrome
alpha-2-plasmin inhibitor deficiency
Alpha-Thalassemia Myelodysplasia Syndrome
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 2A1
Amelogenesis Imperfecta Type 3C
Ameloonychohypohidrotic Syndrome
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia
androgen insensitivity syndrome +
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior spinal artery syndrome
antiphospholipid syndrome +
apparent mineralocorticoid excess syndrome
Arnold Stickler Bourne Syndrome
arrhythmogenic right ventricular dysplasia 11
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
asphyxiating thoracic dystrophy + A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
Ataxia-Microcephaly-Cataract Syndrome
Athabaskan brainstem dysgenesis syndrome
atrichia with papular lesions
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant non-syndromic intellectual disability 22
autosomal recessive Alport syndrome
autosomal recessive centronuclear myopathy +
autosomal recessive cerebellar ataxia +
autosomal recessive chronic granulomatous disease cytochrome b-negative
autosomal recessive chronic granulomatous disease cytochrome b-positive type I
autosomal recessive chronic granulomatous disease cytochrome b-positive type II
autosomal recessive chronic granulomatous disease cytochrome b-positive type III
autosomal recessive congenital ichthyosis +
Autosomal Recessive Cutis Laxa +
autosomal recessive cutis laxa type III +
autosomal recessive distal hereditary motor neuronopathy +
Autosomal Recessive Dyskeratosis Congenita +
autosomal recessive Emery-Dreifuss muscular dystrophy 3
autosomal recessive hyaline body myopathy
autosomal recessive hypophosphatemic rickets +
autosomal recessive isolated ectopia lentis 2
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive nonsyndromic deafness +
autosomal recessive osteopetrosis 1
autosomal recessive osteopetrosis 2
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 4
autosomal recessive osteopetrosis 5
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis 8
autosomal recessive pericentral pigmentary retinopathy
autosomal recessive polycystic kidney disease +
autosomal recessive pseudohypoaldosteronism type 1
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
autosomal recessive Robinow syndrome
Autosomal Recessive Robinow Syndrome 2
autosomal recessive type IV Ehlers-Danlos syndrome
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome +
Axial Mesodermal Dysplasia Spectrum
Bagatelle Cassidy syndrome
Bainbridge-Ropers Syndrome
Bamforth-Lazarus syndrome
Baraitser Brett Piesowicz Syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Behrens Baumann Dust Syndrome
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
Bent Bone Dysplasia Syndrome
Bernard-Soulier syndrome +
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
beta-ketothiolase deficiency
Beta-Ureidopropionase Deficiency
Bhaskar Jagannathan Syndrome
Bilateral Amastia with Ureteral Triplication and Dysmorphism
BIRK-LANDAU-PEREZ SYNDROME
blepharocheilodontic syndrome +
Bloch-Sulzberger syndrome +
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Bone Marrow Failure Syndromes +
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
Brachioskeletogenital Syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brain-Lung-Thyroid Syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Brown-Vialetto-Van Laere syndrome +
Burnett Schwartz Berberian Syndrome +
Buschke-Ollendorff Syndrome
Camera Marugo Cohen Syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camurati-Engelmann disease +
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
capillary leak syndrome +
carbamoyl phosphate synthetase I deficiency disease
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
Cardiac-Urogenital Syndrome
cardiofaciocutaneous syndrome +
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cartwright Nelson Fryns Syndrome
Cataract Microcornea Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cayler Cardiofacial Syndrome
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Cerebellofaciodental Syndrome
cerebral creatine deficiency syndrome +
cerebrocostomandibular syndrome
Cerebrofaciothoracic Dysplasia
Cerebrooculonasal Syndrome
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction
Chang Davidson Carlson Syndrome
Charcot-Marie-Tooth disease axonal type 2H
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Chediak-Higashi syndrome +
Chemke Oliver Mallek Syndrome
Chitayat Meunier Hodgkinson Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Baraitser Syndrome
Chitty Hall Webb Syndrome
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
Chondrodysplasia with Joint Dislocations, GPAPP Type
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
Chondrodysplasia, Megarbane-Dagher-Melki Type
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
chromosomal deletion syndrome +
chromosomal duplication syndrome +
Chromosome 13q Deletion Syndrome +
chromosome 15q26-qter deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 deletion syndrome, distal
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
CHROMOSOME 2p16.3 DELETION SYNDROME
chromosome 2q31.2 deletion syndrome
chromosome 2q32-q33 deletion syndrome
Chromosome 2q37 Deletion Syndrome
Chromosome 3 Duplication Syndrome
Chromosome 4, 4q Terminal Deletion Syndrome
chromosome 5p13 duplication syndrome
chromosome 5q deletion syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq Duplication Syndrome
chronic atrial and intestinal dysrhythmia
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Circumvallate Placenta Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
cleft palate-lateral synechia syndrome
cleidocranial dysplasia +
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
combined malonic and methylmalonic acidemia
combined oxidative phosphorylation deficiency 1
combined oxidative phosphorylation deficiency 10
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 16
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 20
combined oxidative phosphorylation deficiency 21
combined oxidative phosphorylation deficiency 22
combined oxidative phosphorylation deficiency 23
combined oxidative phosphorylation deficiency 24
combined oxidative phosphorylation deficiency 25
combined oxidative phosphorylation deficiency 26
combined oxidative phosphorylation deficiency 27
combined oxidative phosphorylation deficiency 28
combined oxidative phosphorylation deficiency 29
combined oxidative phosphorylation deficiency 3
combined oxidative phosphorylation deficiency 30
combined oxidative phosphorylation deficiency 31
combined oxidative phosphorylation deficiency 32
combined oxidative phosphorylation deficiency 33
combined oxidative phosphorylation deficiency 34
combined oxidative phosphorylation deficiency 35
combined oxidative phosphorylation deficiency 36
combined oxidative phosphorylation deficiency 37
combined oxidative phosphorylation deficiency 38
combined oxidative phosphorylation deficiency 39
combined oxidative phosphorylation deficiency 4
combined oxidative phosphorylation deficiency 5
combined oxidative phosphorylation deficiency 6
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
Combined Pituitary Hormone Deficiency, 1
Combined Pituitary Hormone Deficiency, 4
complex regional pain syndrome +
congenital adrenal insufficiency
congenital amegakaryocytic thrombocytopenia
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
congenital central hypoventilation syndrome
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 7 with exudative enteropathy
congenital disorder of glycosylation Ia
congenital disorder of glycosylation Iaa
congenital disorder of glycosylation Ib
congenital disorder of glycosylation Ic
congenital disorder of glycosylation Id
congenital disorder of glycosylation Ie
congenital disorder of glycosylation If
congenital disorder of glycosylation Ig
congenital disorder of glycosylation Ih
congenital disorder of glycosylation Ii
congenital disorder of glycosylation Ij
congenital disorder of glycosylation Ik
congenital disorder of glycosylation Il
congenital disorder of glycosylation Im
congenital disorder of glycosylation In
congenital disorder of glycosylation Ip
congenital disorder of glycosylation Iq
congenital disorder of glycosylation Ir
congenital disorder of glycosylation It
congenital disorder of glycosylation Iu
congenital disorder of glycosylation Iw
congenital disorder of glycosylation Ix
congenital disorder of glycosylation type IIa
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type IIc
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type IIh
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type IIn
congenital disorder of glycosylation type IIo
congenital disorder of glycosylation type IIp
congenital disorder of glycosylation type IIq
congenital dyserythropoietic anemia type Ia
congenital dyserythropoietic anemia type Ib
congenital dyserythropoietic anemia type II
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital generalized lipodystrophy +
congenital generalized lipodystrophy type 4
congenital hereditary endothelial dystrophy of cornea
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital hypotrichosis with juvenile macular dystrophy
congenital leptin deficiency
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A +
Congenital Micromelic Dysplasia with Dislocation of Radius +
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy merosin-positive
congenital muscular dystrophy with cataracts and intellectual disability
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 22
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital nongoitrous hypothyroidism 1
congenital nongoitrous hypothyroidism 4
Congenital Pain Insensitivity +
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness 1B
congenital stationary night blindness 1C
congenital stationary night blindness 1D
congenital stationary night blindness 1E
congenital stationary night blindness 1F
congenital stationary night blindness 1G
congenital stationary night blindness 1H
Contiguous Abcd1/Dxs1375e Deletion Syndrome
Corneal Cerebellar Syndrome
Cornelia de Lange syndrome +
Corneodermatoosseous Syndrome
Coronary-Subclavian Steal Syndrome
cortical dysplasia-focal epilepsy syndrome
cortisone reductase deficiency 1
Costocoracoid Ligament Congenitally Short
Cranioacrofacial Syndrome
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Crossed Polydactyly, Type I
Crumpled Helices and Small Mouth
Cryopyrin-Associated Periodic Syndromes +
Cryptomicrotia Brachydactyly Syndrome
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutis Laxa-Marfanoid Syndrome
Cyprus Facial Neuromusculoskeletal Syndrome
Czech Dysplasia, Metatarsal Type
D-2-hydroxyglutaric aciduria 1
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
De Hauwere Leroy Adriaenssens syndrome
De Sanctis-Cacchione Syndrome
Deafness Oligodontia Syndrome
Deafness, Nephritis, Anorectal Malformation
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deal Barratt Dillon Syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Dennis Fairhurst Moore Syndrome
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
Dianzani Autoimmune Lymphoproliferative Syndrome
Diarrhea prodrome + Hemolytic-Uremic Syndrome
diffuse infiltrative lymphocytosis syndrome
Digitorenocerebral Syndrome
dilated cardiomyopathy 1X
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
Dincsoy Salih Patel Syndrome
Distal Trisomy 10q Syndrome
Drachtman Weinblatt Sitarz Syndrome
Drug Hypersensitivity Syndrome
Duane retraction syndrome +
Duane-radial ray syndrome
Duker Weiss Siber syndrome
Dyggve-Melchior-Clausen disease +
Dykes Markes Harper Syndrome
Dyschondrosteosis and Nephritis
dysplastic nevus syndrome +
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
Ehlers-Danlos syndrome progeroid type +
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Ellis-Van Creveld syndrome +
endocrine-cerebro-osteodysplasia syndrome
epidermodysplasia verruciformis +
epidermolysis bullosa simplex with muscular dystrophy
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 4
erythrokeratodermia variabilis et progressiva 5
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Failed Back Surgery Syndrome
Familial Antiphospholipid Syndrome
familial apolipoprotein C-II deficiency
Familial Cyclic Vomiting Syndrome
familial erythrocytosis 2
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
Familial Hyperchylomicronemia Syndrome
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
familial lipase maturation factor 1 deficiency
familial lipoprotein lipase deficiency +
familial partial lipodystrophy type 5
familial partial lipodystrophy type 6
Familial Popliteal Pterygium Syndrome
familial temporal lobe epilepsy 5
Fanconi anemia complementation group A +
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group I
Fanconi anemia complementation group L
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fara Chlupackova Syndrome
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
fatal infantile hypertonic myofibrillar myopathy
Faye-Petersen Ward Carey Syndrome
Feigenbaum Bergeron Richardson Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Bifid with Monodactylous Ectrodactyly
Femur Fibula Ulna Syndrome
fetal akinesia deformation sequence syndrome 1
fetal akinesia deformation sequence syndrome 2
fetal akinesia deformation sequence syndrome 3
fetal akinesia deformation sequence syndrome 4
Fetal Inflammatory Response Syndrome
Fetal Trimethadione Syndrome
fibrogenesis imperfecta ossium
Fibrous Dysplasia of Bone +
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
fibular hypoplasia and complex brachydactyly
Fitz-Hugh-Curtis Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 9
Foix Chavany Marie Syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fowler Christmas Chapple Syndrome
Franceschini Vardeu Guala syndrome
Fraser Jequier Chen Syndrome
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Frontometaphyseal Dysplasia +
Frontootopalatodigital Osteodysplasia
Fryns Hofkens Fabry Syndrome
Fuchs' heterochromic uveitis
Furukawa Takagi Nakao Syndrome
GABRIELE-DE VRIES SYNDROME
galactose epimerase deficiency
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
gamma-glutamyl transpeptidase deficiency
Gamstorp-Wohlfart syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
geroderma osteodysplasticum
Ghosal Hematodiaphyseal Dysplasia
Ghose Sachdev Kumar Syndrome
giant axonal neuropathy 1
Gilles de la Tourette syndrome +
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
GLUT1 Deficiency Syndrome
Glutamyl Ribose-5-Phosphate Storage Disease
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Gomez Lopez Hernandez Syndrome
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
Graham Boyle Troxell Syndrome
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
Groll Hirschowitz Syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Guillain-Barre syndrome +
Gurrieri Sammito Bellussi Syndrome
Hagemoser Weinstein Bresnick Syndrome
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff syndrome +
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hand-Arm Vibration Syndrome
hand-foot-genital syndrome
Hantavirus hemorrhagic fever with renal syndrome +
hantavirus pulmonary syndrome
Hapnes Boman Skeie Syndrome
Harrod Doman Keele Syndrome
Hashimoto-Pritzker Syndrome
Haspeslagh Fryns Muelenaere Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
Heart Defects Limb Shortening
hemolytic-uremic syndrome +
Hemorrhagic Shock and Encephalopathy Syndrome
hereditary breast ovarian cancer syndrome
hereditary fructose intolerance syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndromes
hereditary sensory and autonomic neuropathy type 2A
hereditary sensory and autonomic neuropathy type 2B
hereditary sensory and autonomic neuropathy type 5
hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 8
hereditary sensory neuropathy type 2C
hereditary sensory neuropathy type 4
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 18
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 30
hereditary spastic paraplegia 32
hereditary spastic paraplegia 35
hereditary spastic paraplegia 39
hereditary spastic paraplegia 43
hereditary spastic paraplegia 44
hereditary spastic paraplegia 45
hereditary spastic paraplegia 46
hereditary spastic paraplegia 47
hereditary spastic paraplegia 48
hereditary spastic paraplegia 49
hereditary spastic paraplegia 50
hereditary spastic paraplegia 51
hereditary spastic paraplegia 52
hereditary spastic paraplegia 53
hereditary spastic paraplegia 54
hereditary spastic paraplegia 55
hereditary spastic paraplegia 56
hereditary spastic paraplegia 57
hereditary spastic paraplegia 5A
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 72
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 9A
hereditary spastic paraplegia 9B
hereditary spherocytosis type 1
hereditary spherocytosis type 3
hereditary spherocytosis type 5
Hermansky-Pudlak syndrome +
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopk Syndrome
high pressure neurological syndrome
Hirschsprung Disease Polydactyly Heart Disease
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
hyper IgE recurrent infection syndrome 2
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
hypereosinophilic syndrome +
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperostosis Frontalis Interna +
Hyperphosphatasia with Mental Retardation +
hyperphosphatemic familial tumoral calcinosis +
hypertelorism, microtia, facial clefting syndrome
hypertrichotic osteochondrodysplasia Cantu type
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
Hypomelia Mullerian Duct Anomalies
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 14
Hypomyelinating Leukodystrophy 18
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypomyelinating leukodystrophy 9
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplasia of Tibia with Polydactyly
hypoplastic left heart syndrome +
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Follicularis Atrichia Photophobia Syndrome
Ichthyosis Prematurity Syndrome
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune Reconstitution Inflammatory Syndrome
immunodeficiency with hyper IgM type 3
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin alpha deficiency +
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
inappropriate ADH syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
Incomplete Sertoli Cell-Only Syndrome
infancy electroclinical syndrome +
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
inflammatory bowel disease 25
inflammatory bowel disease 28
Insulin-Like Growth Factor I, Resistance To
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
intermediate spinal muscular atrophy
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
Iris Dysplasia Hypertelorism Deafness
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
Jagell Holmgren Hofer Syndrome
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Johnson Neuroectodermal Syndrome
Johnston Aarons Schelley Syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
junctional epidermolysis bullosa Herlitz type
junctional epidermolysis bullosa non-Herlitz type +
junctional epidermolysis bullosa with pyloric atresia
Jung Wolff Back Stahl Syndrome
juvenile polyposis syndrome +
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaplowitz Bodurtha 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
Kennerknecht Sorgo Oberhoffer Syndrome
Kennerknecht Vogel Syndrome
Keratitis-Ichthyosis-Deafness Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Kleeblattschaedel Syndrome
Klippel-Trenaunay syndrome +
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis
Kocher-Debre-Semelaigne Syndrome
Kohlschutter Tonz Syndrome
Konigsmark Knox Hussels Syndrome
Koone Rizzo Elias Syndrome
KOSAKI OVERGROWTH SYNDROME
Kousseff Nichols Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski Warren Fisher Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuster Majewski Hammerstein Syndrome
Kuzniecky Andermann Syndrome
Lachiewicz Sibley Syndrome
Ladda Zonana Ramer syndrome
Lambert-Eaton myasthenic syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Laryngo Onycho Cutaneous Syndrome
late-adult onset retinitis pigmentosa
lateral medullary syndrome +
lateral meningocele syndrome
Laurence Prosser Rocker 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
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
lethal congenital contracture syndrome +
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
lethal restrictive dermopathy
leukocyte adhesion deficiency +
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
Light Fixation Seizure Syndrome
linear nevus sebaceous syndrome +
Linear Skin Defects with Multiple Congenital Anomalies +
Liver Fibrocystic Disease and Polydactyly
Loose Anagen Hair Syndrome +
Lopes-Maciel-Rodan Syndrome
Lubani Al Saleh Teebi Syndrome
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE 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
Lysine Malabsorption Syndrome
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
macrocephaly-autism syndrome
Macrophage Activation Syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Malabsorption Syndromes +
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Malignant Carcinoid Syndrome +
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis with alopecia
Marden Walker Like Syndrome
Marfanoid Hypermobility Syndrome
Marinesco-Sjogren syndrome
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
McPherson Robertson Cammarano Syndrome
Meacham Winn Culler Syndrome
Meckel-Like Cerebrorenodigital Syndrome
meconium aspiration syndrome
Medial Medullary Syndrome
Medial Tibial Stress Syndrome
median arcuate ligament syndrome
megaconial type congenital muscular dystrophy
megacystis-microcolon-intestinal hypoperistalsis syndrome
Megakaryoblastic Leukemia of Down Syndrome
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephaly Cutis Marmorata Telangiectatica Congenita
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Mengel Konigsmark Syndrome
Menke-Hennekam Syndrome +
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Merlob Grunebaum Reisner Syndrome
MERRF/MELAS Overlap Syndrome
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Dysplasia, Savarirayan Type
Mesomelic Limb Shortening and Bowing
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia without Hypotrichosis
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
Metaphyseal Dysplasia, Braun-Tinschert Type
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
Methionine Malabsorption Syndrome
Mexican Cardiomelic Dysplasia
Meyenburg-Altherr-Uehlinger Syndrome
Michelin Tire Baby Syndrome +
Microcephalic Osteodysplastic Primordial Dwarfism +
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, Epilepsy, and Diabetes Syndrome
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly-Capillary Malformation Syndrome
Microcephaly-Micromelia Syndrome
Microdontia Hypodontia Short Stature
Micromelic Dwarfism Fryns Type
microphthalmia with limb anomalies
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Microspherophakia with Hernia
microvillus inclusion disease
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 13
mitochondrial DNA depletion syndrome 15
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 3
mitochondrial DNA depletion syndrome 4A +
mitochondrial DNA depletion syndrome 4B
mitochondrial DNA depletion syndrome 5
mitochondrial DNA depletion syndrome 6
mitochondrial DNA depletion syndrome 8A
mitochondrial DNA depletion syndrome 8b
mitochondrial DNA depletion syndrome 9
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +
mitochondrial pyruvate carrier deficiency
mitochondrial trifunctional protein deficiency
Miura type epiphyseal chondrodysplasia
mixed connective tissue disease
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
Mollica Pavone Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome +
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
Mousa Al din Al Nassar Syndrome
mucopolysaccharidosis Ih/s
mucopolysaccharidosis IVA
mucopolysaccharidosis type IIIA
mucopolysaccharidosis type IIIB
mucopolysaccharidosis type IIIC
mucopolysaccharidosis type IIID
mucopolysaccharidosis type IVB
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
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 Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple epiphyseal dysplasia +
multiple epiphyseal dysplasia 4
multiple epiphyseal dysplasia 7
Multiple Hamartoma Syndrome +
multiple intestinal atresia
multiple mitochondrial dysfunctions syndrome +
multiple mitochondrial dysfunctions syndrome 1
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
multiple mitochondrial dysfunctions syndrome 4
multiple mitochondrial dysfunctions syndrome 5
multiple mitochondrial dysfunctions syndrome 6
multiple pterygium syndrome +
multiple synostoses syndrome +
multiple system atrophy +
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
muscular dystrophy-dystroglycanopathy +
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
myelodysplastic syndrome +
myofascial pain syndrome +
myopathy with extrapyramidal signs
Myopathy, Cataract, Hypogonadism Syndrome
Nablus Mask-Like Facial Syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
neonatal abstinence syndrome
neonatal diabetes mellitus with congenital hypothyroidism
nephrotic syndrome type 1
nephrotic syndrome type 10
nephrotic syndrome type 11
nephrotic syndrome type 12
nephrotic syndrome type 13
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
nephrotic syndrome type 17
nephrotic syndrome type 18
nephrotic syndrome type 19
nephrotic syndrome type 2
nephrotic syndrome type 3
nephrotic syndrome type 5
nephrotic syndrome type 6
nephrotic syndrome type 7
nephrotic syndrome type 8
nephrotic syndrome type 9
nerve compression syndrome +
Nestor-Guillermo Progeria Syndrome
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
Neurocutaneous Syndromes +
neurodegeneration with brain iron accumulation 2A
neurodegeneration with brain iron accumulation 2B
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
neurodevelopmental disorder with midbrain and hindbrain malformations
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
Neurofaciodigitorenal Syndrome
Neurofibromatosis-Noonan Syndrome
neurogenic arthrogryposis multiplex congenita +
Neutropenic Enterocolitis
Neutrophil Immunodeficiency Syndrome
nevoid basal cell carcinoma syndrome +
NF1 Microduplication Syndrome
Nicolaides Baraitser Syndrome
Nijmegen breakage syndrome +
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Nonkeratan-Sulfate-Excreting Morquio Syndrome
nonphotosensitive trichothiodystrophy +
O'Donnell Pappas Syndrome
O'DONNELL-LURIA-RODAN SYNDROME
Obesity Hypoventilation Syndrome
Occipital Cortical Malformations
Oculoauriculofrontonasal syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculocutaneous albinism +
Oculodental Syndrome Rutherfurd Syndrome
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Odontoma Dysphagia Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Oligodontia-Colorectal Cancer Syndrome
Oliver-McFarlane syndrome
Opitz Reynolds Fitzgerald syndrome
Opitz Trigonocephaly Syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
ornithine translocase deficiency
orofaciodigital syndrome +
orofaciodigital syndrome V
Orstavik Lindemann Solberg Syndrome
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
Osteodysplasia, Familial, Anderson Type
osteogenesis imperfecta +
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
osteogenesis imperfecta type 15
osteogenesis imperfecta type 17
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
Oto-Palato-Digital Syndrome Type 1
Oto-Palato-Digital Syndrome, Type 2
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
Otopalatodigital Spectrum Disorder
otospondylomegaepiphyseal dysplasia
ovarian hyperstimulation syndrome
Palant Cleft Palate Syndrome
Pallister Killian Syndrome
Pallister-Hall syndrome +
pantothenate kinase-associated neurodegeneration +
Papillon-Lefevre disease +
Parana Hard Skin Syndrome
Paraneoplastic Syndromes +
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Partial Duplication 15q Syndrome
partial fetal alcohol syndrome
Partial Trisomy 3q Syndrome
Partington Anderson Syndrome
Pascual Castroviejo Syndrome
patellofemoral pain syndrome
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome +
Pavone Fiumara Rizzo Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
periodic limb movement disorder
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
permanent neonatal diabetes mellitus +
Perniola Krajewska Carnevale Syndrome
persistent fetal circulation syndrome
persistent Mullerian duct syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Rockelein Syndrome
Pfeiffer Tietze Welte Syndrome
Pheochromocytoma Islet Cell Tumor Syndrome
Piepkorn Karp Hickok syndrome
pigment dispersion syndrome
PILAROWSKI-BJORNSSON SYNDROME
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pitt-Hopkins-like syndrome 2
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
poikiloderma with neutropenia
polycystic kidney disease +
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
polycystic ovary syndrome +
Polydactyly Myopia Syndrome
Polyendocrine-Polyneuropathy Syndrome
Polyosteolysis-Hyperostosis Syndrome
popliteal pterygium syndrome +
Porcine Postweaning Multisystemic Wasting Syndrome
Porcine Reproductive and Respiratory Syndrome
PORETTI-BOLTSHAUSER SYNDROME
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
postcholecystectomy syndrome
Posterior Leukoencephalopathy Syndrome
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prader-Willi-Like Syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
Preeyasombat Varavithya Syndrome
Premature Aging, Okamoto Type
Premature Ovarian Failure 10
Presumed Ocular Histoplasmosis Syndrome
primary autosomal recessive microcephaly +
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +
progressive familial intrahepatic cholestasis 1
progressive familial intrahepatic cholestasis 2
progressive familial intrahepatic cholestasis 3
progressive familial intrahepatic cholestasis 4
progressive familial intrahepatic cholestasis 5
progressive myoclonus epilepsy 10
progressive myoclonus epilepsy 1A
progressive myoclonus epilepsy 1B
progressive myoclonus epilepsy 3
progressive myoclonus epilepsy 4
progressive myoclonus epilepsy 6
progressive myoclonus epilepsy 8
progressive myoclonus epilepsy 9
progressive pseudorheumatoid arthropathy of childhood
Propofol Infusion Syndrome
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
Pseudotrisomy 13 Syndrome
pseudoxanthoma elasticum +
purine nucleoside phosphorylase deficiency
pyruvate kinase deficiency of red cells
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Ramos Arroyo Clark Syndrome
Rasmussen Johnsen Thomsen Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
recessive dystrophic epidermolysis bullosa
Recombinant Chromosome 8 Syndrome
Reginato Schiapachasse Syndrome
Renal Dysplasia - Limb Defects Syndrome
renal hypomagnesemia 5 with ocular involvement
Renal Hypophosphatemia with Intracerebral Calcifications
Renal Nutcracker Syndrome
Renal Tubular Dysgenesis with Choanal Atresia and Athelia
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
retinitis pigmentosa with or without situs inversus
Retinohepatoendocrinologic Syndrome
rhizomelic chondrodysplasia punctata +
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
rigid spine muscular dystrophy 1
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome 1
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein Taybi like Syndrome
Rubinstein-Taybi syndrome +
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sabinas Brittle Hair Syndrome
Sackey Sakati Aur Syndrome
Sacral Defect and Anterior Sacral Meningocele
Sacral Meningocele Conotruncal Heart Defects
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller Syndrome
Say Field Coldwell syndrome
Scalp Ear Nipple Syndrome
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke immuno-osseous dysplasia
Schimke X-Linked Mental Retardation Syndrome
Schinzel-Giedion Syndrome
Schlegelberger Grote Syndrome
schneckenbecken dysplasia
Schofer Beetz Bohl Syndrome
Schopf-Schulz-Passarge Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schwartz-Jampel syndrome 1
Schweitzer Kemink Graham Syndrome
seasonal affective disorder
Seckel Like Syndrome Type Buebel
Second Metatarsal-Metacarpal Syndrome
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selig Benacerraf Greene Syndrome
Sensorineural Deafness and Migraine
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
Seres-Santamaria Arimany Muniz 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
Sharma Kapoor Ramji Syndrome
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Short Stature-Obesity Syndrome
shoulder impingement syndrome
Shprintzen Omphalocele Syndrome
Shwachman-Diamond syndrome
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Siegler Brewer Carey Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silengo Lerone Pelizza 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 +
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Sketetal Dysplasia Coarse Facies Mental Retardation
Skin Fragility-Woolly Hair Syndrome
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Slipped Capital Femoral Epiphyses
Smith-Lemli-Opitz syndrome +
SOST-related sclerosing bone dysplasia
Spastic Paraplegia and Evans Syndrome
Spastic Paraplegia with Kallmann Syndrome
Spinal Dysplasia, Anhalt Type
spinal muscular atrophy with progressive myoclonic epilepsy
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 6
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
spondylocarpotarsal synostosis syndrome
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy
Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Spondyloepiphyseal Dysplasia, Maroteaux Type
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondyloepiphyseal Dysplasia, Nishimura Type
Spondyloepiphyseal Dysplasia, Stanescu Type
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Spondylometaphyseal Dysplasia, Algerian Type
Spondylometaphyseal Dysplasia, Axial
Spondylometaphyseal Dysplasia, East-African Type
Spondylometaphyseal Dysplasia, Kozlowski Type
Spondylometaphyseal Dysplasia, Sedaghatian Type
Spondylometaphyseal Dysplasia, Type A4
Spondylometaphyseal Dysplasia, X-Linked
Spondyloocular Syndrome, Autosomal Recessive
Spondyloperipheral Dysplasia
Spondylospinal Thoracic Dysostosis
Spranger Schinzel Myers Syndrome
Squalene Synthase Deficiency
STANKIEWICZ-ISIDOR SYNDROME
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stern Lubinsky Durrie Syndrome
Stocco dos Santos Syndrome
Stoelinga de Koomen Davis Syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Structural Heart Defects and Renal Anomalies Syndrome
subclavian steal syndrome
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
supine hypotensive syndrome
Syndactyly-Polydactyly-Earlobe Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Lubs type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
Synpolydactyly with Foot Anomalies
Systemic Inflammatory Response Syndrome +
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Takenouchi-Kosaki Syndrome
TATTON-BROWN-RAHMAN SYNDROME
Teebi Naguib Al Awadi syndrome
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temple-Baraitser syndrome
Temporomandibular Joint Dysfunction Syndrome
temtamy preaxial brachydactyly syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
tethered spinal cord syndrome
Tetraamelia Multiple Malformations
Tetraphocomelia-Thrombocytopenia Syndrome
Thai Symphalangism Syndrome
thanatophoric dysplasia +
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thomas Jewett Raines Syndrome
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoracolaryngopelvic Dysplasia
Thrombocytopenia Absent Ulnar Syndrome
Thymic Aplasia with Fetal Death
Thyrocerebral-Retinal Syndrome
thyroid hormone resistance syndrome +
Tibia Absent Polydactyly Arachnoid Cyst
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Tn polyagglutination syndrome
Tollner Horst Manzke Syndrome
Tracheobronchopathia Osteoplastica
Tranebjaerg Svejgaard syndrome
transient bullous dermolysis of the newborn
Treft Sanborn Carey Syndrome
Tricho-Dento-Osseous Syndrome
Tricho-Dento-Osseous Syndrome 1
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
Trichothiodystrophy Syndromes +
Triphalangeal Thumbs Brachyectrodactyly
Trisomy 22 Mosaicism Syndrome
Trueb Burg Bottani Syndrome
Tumor Predisposition Syndrome
Tunglang Savage Bellman Syndrome
Ullrich congenital muscular dystrophy +
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Nerve Compression Syndromes +
Uncombable Hair Syndrome +
Urban Schosser Spohn Syndrome
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay Faciocardiomusculoskeletal Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Vasquez Hurst Sotos Syndrome
Velofacioskeletal Syndrome
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
vertebral artery insufficiency +
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
Viljoen Kallis Voges Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vogt-Koyanagi-Harada disease
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Walker-Warburg syndrome +
Warburton Anyane Yeboa Syndrome
Waterhouse-Friderichsen syndrome +
Weill-Marchesani syndrome +
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Wernicke-Korsakoff syndrome
Weyers Acrofacial Dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Williams-Beuren Region Duplication Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati Syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
Zunich Neuroectodermal Syndrome
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