ONTOLOGY BROWSER
| Term: | Alagille Syndrome |
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| Accession: | RDO:0000024
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| Definition: | A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). |
| Synonyms: | exact_synonym: | AHD; ALGS; ALGS1; ALGS2; AWS; Alagille Syndrome 1; Alagille Syndrome 2; Alagille Watson Syndrome; Alagille Watson Syndromes; Arteriohepatic Dysplasia; Arteriohepatic Dysplasias; Cardiovertebral Syndrome; Cardiovertebral Syndromes; Cholestasis with Peripheral Pulmonary Stenosis; Hepatic Ductular Hypoplasia; Hepatic Ductular Hypoplasia, Syndromatic; Hepatic Ductular Hypoplasias; Hepatofacioneurocardiovertebral Syndrome; Hepatofacioneurocardiovertebral Syndromes; Paucity of Interlobular Bile Ducts; Watson-Miller syndrome |
| | primary_id: | MESH:D016738 |
| | alt_id: | OMIM:118450; OMIM:601920; OMIM:610205 |
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22q11 Deletion Syndrome +
3-Methylglutaconic Aciduria Type IV
3C syndrome
Aarskog syndrome
Aase Smith syndrome
Ablepharon macrostomia syndrome
Acrocephalopolydactylous Dysplasia
Acromegaloid features, overgrowth, cleft palate, and hernia
ACTH Deficiency, Isolated
Adducted thumb and clubfoot syndrome +
Adducted Thumbs Syndrome
Adrenal Hyperplasia, Congenital +
Adrenocortical Hypofunction, Chronic Primary Congenital
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen syndrome
Al Gazali Aziz Salem syndrome
Al-Gazali Syndrome
Alagille Syndrome A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
alpha 1-Antitrypsin Deficiency +
Alpha-2-Deficient Collagen Disease
Alstrom Syndrome
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome
Anemia, Hemolytic, Congenital +
Anemia, Hypoplastic, Congenital +
Angelman Syndrome +
Angioedemas, Hereditary +
Anisomastia
Aortic Coarctation +
Aortic Valve Disease +
Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts
Arrhythmogenic Right Ventricular Dysplasia +
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arthrogryposis epileptic seizures migrational brain disorder
Ataxia Telangiectasia +
Atrial Standstill
Aughton syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Autoimmune Lymphoproliferative Syndrome +
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
Axenfeld-Rieger Syndrome, Type 3
Axial mesodermal dysplasia spectrum
Baetz-Greenwalt syndrome
Bamforth syndrome
Bardet-Biedl Syndrome +
Barth Syndrome +
Basal Cell Nevus Syndrome +
Beckwith-Wiedemann Syndrome +
Beemer Ertbruggen syndrome
Ben Ari Shuper Mimouni syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bile acid synthesis defect, congenital, 4
Bixler Christian Gorlin syndrome
Blepharophimosis syndrome Ohdo type
Blood Coagulation Disorders, Inherited +
Bloom Syndrome
Bonneau Syndrome
Bowen syndrome
Brachydactyly, Intraventricular Septal Defect, And Deafness
Brachymesomelia renal syndrome
Branchio-Oto-Renal Syndrome +
Branchiogenic-Deafness Syndrome
Broad Terminal Phalanges, Familial
Brugada Syndrome +
Burn-Mckeown syndrome
Burnett Schwartz Berberian syndrome
CADASIL +
Camurati-Engelmann Syndrome +
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
Cardiac Valvular Defect, Developmental
Cardiac valvular dysplasia, X-linked
Cardioauditory syndrome of Sanchez Cascos
Cardiocranial syndrome
Cardiofaciocutaneous syndrome
Cardiomyopathy, Hypertrophic, Familial +
Carney Complex +
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebrofaciothoracic Dysplasia
Cerebrofrontofacial Syndrome
Cervical ribs sprengel anomaly anal atresia urethral obstruction
Char syndrome
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
CHARGE Syndrome
Chemke Oliver Mallek syndrome
Cherubism +
Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 2
Cholestasis, intrahepatic of pregnancy
Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 2
Cholestasis, progressive familial intrahepatic 3
Chondrodysplasia, Megarbane-Dagher-Melki Type
Chromosome 15q26-Qter Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome
Chromosome 19q13.11 Deletion Syndrome
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Chromosome 1q21.1 Duplication Syndrome
Chromosome 1q43-Q44 Deletion Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal
Chromosome 22q11.2 Microduplication Syndrome
Chromosome 2p16.1-P15 Deletion Syndrome
Chromosome 2q31.2 Deletion Syndrome
Chromosome 2q32-Q33 Deletion Syndrome
CHROMOSOME 3pter-p25 DELETION SYNDROME
Chromosome 5p13 Duplication Syndrome
Chromosome 6pter-P24 Deletion Syndrome
Chromosome 9p Deletion Syndrome
Chromosome Disorders +
Cirrhosis, Familial
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
COACH syndrome
Cockayne Syndrome +
Coffin-Siris syndrome
Cold-Induced Sweating Syndrome 1
Complement Factor I Deficiency
Congenital Disorder Of Glycosylation, Type II
Congenital Disorder Of Glycosylation, Type IIG
Congenital Heart Defects, X-Linked
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Conotruncal cardiac defects +
Contiguous Abcd1/Dxs1375e Deletion Syndrome
Cor Triatriatum
Coronary Vessel Anomalies +
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Corticosteroid-Binding Globulin Deficiency
Costello Syndrome
Costocoracoid ligament congenitally short
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial deafness hand syndrome
Craniofacial-Skeletal-Dermatologic Dysplasia
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Cri-du-Chat Syndrome +
Crisscross Heart
Crumpled helices and small mouth
Cryoglobulinemia, Familial Mixed
Cryptomicrotia brachydactyly syndrome
Cystic Fibrosis +
De Lange Syndrome +
Deaf-Blind Disorders +
Deafness nephritis ano rectal malformation
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Desmosterolosis
Devriendt syndrome
Dextrocardia +
Diarrhea 3, Secretory Sodium, Congenital
Dincsoy Salih Patel syndrome
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
DK Phocomelia Syndrome
Donohue Syndrome +
Down Syndrome +
Ductus Arteriosus, Patent +
Dwarfism +
Ebstein Anomaly
Ectodermal Dysplasia +
Ectopia Cordis
Ectrodactyly cardiopathy dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Eisenmenger Complex
Elliott Ludman Teebi syndrome
Ellis Yale Winter syndrome
Emanuel syndrome
Epistaxis, Hereditary
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Eye Diseases, Hereditary +
Facial Dysmorphism with Multiple Malformations
Facio thoraco genital syndrome
Faciocardiomelic Dysplasia, Lethal
Faciocardiomelic Syndrome
Faciocardiorenal syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial anomalous origin of right pulmonary artery
Feingold Trainer syndrome
Femur bifid with monodactylous ectrodactyly
Femur fibula ulna syndrome
Fibrochondrogenesis
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
Fine-Lubinsky syndrome
Flat umbilicus familial
Floating-harbor syndrome
Forney Robinson Pascoe syndrome
Fountain syndrome
Fragile Site 16p12
Fraser Jequier Chen syndrome
Fraser Syndrome
Frasier Syndrome
Fried Goldberg Mundel syndrome
Frontoocular Syndrome
Gardner Morrisson Abbot syndrome
Gardner Syndrome +
Gay Feinmesser Cohen syndrome
GEMSS syndrome
Genee-Wiedemann syndrome
Genetic Diseases, X-Linked +
Genetic Diseases, Y-Linked +
Genito palato cardiac syndrome
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez syndrome
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Gorlin Chaudhry Moss syndrome
Grant syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
Hadziselimovic Syndrome
Hajdu-Cheney Syndrome +
Halal syndrome
Hand foot uterus syndrome
Hanhart syndrome
Harrod Doman Keele syndrome
Heart defects limb shortening
Heart Septal Defects +
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
Hecht Scott syndrome
Hecht syndrome
Hemoglobinopathies +
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
Hepatic Fibrosis, Congenital
Hereditary Autoinflammatory Diseases +
Hereditary Myopathy with Early Respiratory Failure
Heredodegenerative Disorders, Nervous System +
Hersh Podruch Weisskopk syndrome
Heterotaxy Syndrome +
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Histiocytosis, Familial Lipochrome
Hittner Hirsch Kreh syndrome
Ho Kaufman Mcalister syndrome
Holoprosencephaly +
Holt-Oram syndrome
Holzgreve Wagner Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
Hydrolethalus syndrome
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
Hyperphosphatasia with Mental Retardation
Hyperthyroxinemia, Familial Dysalbuminemic +
Hypomelia mullerian duct anomalies
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypophosphatemia, Renal, with Intracerebral Calcifications
Hypoplastic Left Heart Syndrome
Hypotonia, Seizures, And Precocious Puberty
Ichthyosis-Cheek-Eyebrow Syndrome
Incontinentia Pigmenti +
Insulin-Like Growth Factor I, Resistance To
Interstitial Pneumonitis, Desquamative, Familial
Iris dysplasia hypertelorism deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jarcho-Levin syndrome +
Jequier Kozlowski skeletal dysplasia
Jung Wolff Back Stahl syndrome
Kabuki syndrome
Kallmann Syndrome +
Kapur Toriello syndrome
Kartagener Syndrome +
Kashani Strom Utley syndrome
Kasznica Carlson Coppedge syndrome
KBG syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Keutel syndrome
Kleefstra Syndrome
Kleiner Holmes syndrome
Knuckle pads, leuconychia and sensorineural deafness
Kosztolanyi syndrome
Kozlowski Brown Hardwick syndrome
Kozlowski Celermajer Tink syndrome
Krauss Herman Holmes syndrome
Krieble Bixler syndrome
Kyphomelic dysplasia
Lacrimoauriculodentodigital syndrome
Larsen like syndrome, lethal type
Larsen syndrome, recessive type
Larsen-Like Syndrome
Lateral meningocele syndrome
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
Laurence-Moon Syndrome
Laurin-Sandrow syndrome
Le Marec Bracq Picaud syndrome
Lenz Majewski hyperostotic dwarfism
LEOPARD Syndrome +
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia
Levocardia
Light Fixation Seizure Syndrome
Liver Cirrhosis, Biliary +
Loeys-Dietz Syndrome +
Long QT Syndrome +
Lopes Gorlin syndrome
Lowry Maclean syndrome
Lutz Richner Landolt syndrome
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Macrosomia obesity macrocephaly ocular abnormalities
Macrosomia with lethal microphthalmia
Male pseudohermaphroditism/mental retardation syndrome, Verloes type
Malpuech facial clefting syndrome
Manouvrier syndrome
Marcus Gunn phenomenon
Marden Walker like syndrome
Marden-Walker syndrome
Marfan Syndrome +
Marles Greenberg Persaud syndrome
Marshall-Smith syndrome
Martin-Probst Deafness-Mental Retardation Syndrome
McDonough syndrome
McKusick Kaufman syndrome
McPherson Clemens syndrome
Meacham Syndrome
Meckel Syndrome, Type 5
Meckel Syndrome, Type 6
Megacystis microcolon intestinal hypoperistalsis syndrome
Megalencephaly cutis marmorata telangiectatica congenita
Megarbane Jalkh Syndrome
Megarbane syndrome
Mehes syndrome
Mehta Lewis Patton syndrome
Melhem Fahl syndrome
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
Mesomelia-synostoses syndrome
Mesomelic Limb Shortening and Bowing
Metabolism, Inborn Errors +
Mexican Cardiomelic Dysplasia
Michels Caskey syndrome
Microcephaly albinism digital anomalies syndrome
Microcephaly seizures mental retardation heart disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS
Microdontia hypodontia short stature
MICROPHTHALMIA, SYNDROMIC 9
Microspherophakia with hernia
Mobius Syndrome +
Monilethrix +
Morillo-Cucci Passarge syndrome
MORM syndrome
Mousa Al din Al Nassar syndrome
Mucolipidosis II Alpha Beta
Muller Barth Menger syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
Multiple pterygium syndrome +
Multiple Pterygium Syndrome, Aslan Type
Muscular Dystrophies +
Myasthenic Syndromes, Congenital +
Nablus mask-like facial syndrome
Nail-Patella Syndrome +
Nance Sweeney chondrodysplasia +
Nasopalpebral lipoma coloboma syndrome
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
Neonatal Cutis Laxa With Marfanoid Phenotype
Neoplastic Syndromes, Hereditary +
Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease
Netherton Syndrome
Neu Laxova syndrome
Neurofaciodigitorenal syndrome
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Nevus, Sebaceous of Jadassohn +
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noonan Syndrome +
Novak syndrome
Oculocerebral hypopigmentation syndrome type Preus
Oculocerebrorenal Syndrome +
Oculofaciocardiodental syndrome
Oculootoradial syndrome
Oculopalatocerebral Syndrome
Oculorenocerebellar syndrome
Orofaciodigital Syndromes +
Orstavik Lindemann Solberg syndrome
Oslam syndrome
Osteogenesis Imperfecta +
Pain Insensitivity, Congenital +
Palant cleft palate syndrome
Pallister W syndrome
Pallister-Hall Syndrome
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease
Parotidomegaly, Hereditary Bilateral
Patterson pseudoleprechaunism syndrome
Pelger-Huet Anomaly +
Pelvis-Shoulder Dysplasia
Penoscrotal transposition
Pentalogy of Cantrell
Perisylvian syndrome
Petty Laxova Wiedemann syndrome
Pfeiffer Kapferer syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
Pfeiffer Tietze Welte syndrome
Piepkorn Karp Hickok syndrome
Pierson syndrome
Pilotto syndrome
Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 4
Platelet Glycoprotein IV Deficiency
Podder-Tolmie syndrome
POEMS Syndrome
Pointer syndrome
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
Polycystic Kidney, Autosomal Recessive +
Powell Chandra Saal syndrome
Prader-Willi Syndrome +
Preaxial deficiency, postaxial polydactyly and hypospadias
Premature aging, Okamoto type
Primrose syndrome
Prolactin Deficiency, Isolated
Prolidase Deficiency
Proteus Syndrome +
Prune Belly Syndrome +
Pseudoaminopterin syndrome
Pseudodiastrophic dysplasia
Pterygium colli mental retardation digital anomalies
Puerto Rican Infant Hypotonia Syndrome
Pulmonary Alveolar Microlithiasis
Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Hypoplasia, Primary
Pycnodysostosis
Qazi Markouizos syndrome
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
Raine syndrome
Ramos Arroyo Clark syndrome
Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Rh Deficiency Syndrome
Right ventricle hypoplasia
Rokitansky Kuster Hauser syndrome
Rommen Mueller Sybert syndrome
Rozin Hertz Goodman syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi Syndrome +
Rudiger Syndrome
Saal Bulas syndrome
Sackey Sakati Aur syndrome
Sacral defect and anterior sacral meningocele
Sacral meningocele conotruncal heart defects
Samson Viljoen syndrome
Sanderson Fraser syndrome
Sandhaus Ben-Ami syndrome
Sao Paulo MCA/MR Syndrome
Say Field Coldwell syndrome
Say Meyer syndrome
Say syndrome
Scalp ear nipple syndrome
SCARF syndrome
Schaefer Stein Oshman syndrome
Schinzel-Giedion syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Scott Bryant Graham syndrome
Seaver Cassidy syndrome
Seckel like syndrome type Buebel
Seemanova Lesny syndrome
Seow Najjar syndrome
Sharma Kapoor Ramji syndrome
Short QT Syndrome 1
Short QT Syndrome 2
Short QT Syndrome 3
Short Rib-Polydactyly Syndrome +
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting
Shprintzen omphalocele syndrome
Siegler Brewer Carey syndrome
Silengo Lerone Pelizza syndrome
Silver-Russell Syndrome +
Simpson-Golabi-Behmel syndrome +
Simpson-Golabi-Behmel Syndrome, Type 2
Skin Diseases, Genetic +
Smith-Lemli-Opitz Syndrome +
Smith-Magenis Syndrome +
Sonoda syndrome
Sotos Syndrome +
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spondylocarpotarsal synostosis
Spondylohypoplasia, arthrogryposis and popliteal pterygium
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Steinfeld Syndrome
Stevenson-Carey Syndrome
Stoelinga de Koomen Davis syndrome
Stratton-Parker Syndrome
Subaortic Stenosis, Membranous
Tabatznik syndrome
Tamari Goodman syndrome
TARP syndrome
Teebi Shaltout syndrome
Teebi syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Ter Haar syndrome
Tetra-amelia with pulmonary hypoplasia
Tetraamelia multiple malformations
Tetraamelia, Autosomal Recessive
Tetralogy of Fallot +
Thakker Donnai syndrome
Thomas Jewett Raines syndrome
Thomas syndrome
Thoracolaryngopelvic dysplasia
Thymic Aplasia with Fetal Death
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Tollner Horst Manzke syndrome
Townes-Brocks syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome
Transposition of Great Vessels +
Tricho-dento-osseous syndrome 1
Trichothiodystrophy Syndromes +
Tricuspid Atresia +
Trilogy of Fallot
Triphalangeal thumbs brachyectrodactyly
Trisomy 18-Like Syndrome
Tsukahara Syndrome
Turner Syndrome +
Uhl anomaly
Ulnar-mammary syndrome
Urioste Martinez-Frias syndrome
Urogenital adysplasia
Uropathy distal obstructive polydactyly
Uruguay Faciocardiomusculoskeletal Syndrome
VACTERL association
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
Van der Woude syndrome +
Van der Woude syndrome 2
Van Maldergem Wetzburger Verloes syndrome
VATER association
Vater Association With Hydrocephalus
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Velofacioskeletal syndrome
Ventricular extrasystoles perodactyly Robin sequence
Verloove-Vanhorick Brubakk syndrome
Vohwinkel syndrome
Waardenburg Syndrome +
Walbaum Titran Durieux Crepin syndrome
Warburg Sjo Fledelius syndrome
Weaver syndrome
Weaver-Like Syndrome
Weill-Marchesani Syndrome +
Werner Syndrome +
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
White forelock with malformations
Wiedemann Grosse Dibbern syndrome
Winchester syndrome
Winter Harding Hyde syndrome
Wolf-Hirschhorn Syndrome +
Wolff-Parkinson-White Syndrome
Wolfram Syndrome +
Woolly hair, hypotrichosis, everted lower lip and outstanding ears
WT limb blood syndrome
XK aprosencephaly
Yellow Nail Syndrome +
Yemenite deaf-blind hypopigmentation syndrome
Yim Ebbin syndrome
Young Simpson syndrome
Zadik Barak Levin syndrome
Zechi-Ceide Syndrome
Zellweger Syndrome +
Zimmerman Laband syndrome
Zunich neuroectodermal syndrome
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