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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
10p Deletion Syndrome (partial) 
16p11.2 Deletion Syndrome  
16Q24.3 Microdeletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p- syndrome 
7p2 Monosomy Syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adducted Thumbs Syndrome +   
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
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 Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
AL-RAQAD SYNDROME  
Alagille syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
ALAZAMI-YUAN SYNDROME  
Amish Lethal Microcephaly  
Angelman syndrome  
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 
Anisomastia 
Aphalangia Syndactyly Microcephaly 
apraxia +   
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Auriculoosteodysplasia 
autosomal dominant microcephaly +   
autosomal dominant non-syndromic intellectual disability 22  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
Ayme-Gripp Syndrome  
Baetz-Greenwalt syndrome 
Bainbridge-Ropers Syndrome  
Bamforth-Lazarus syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
Berk-Tabatznik Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bhaskar Jagannathan Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
BIRK-LANDAU-PEREZ SYNDROME  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
brachydactyly type E2  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Type A2, With Microcephaly 
Brachymesomelia Renal Syndrome 
Branchial Arch Syndrome X-Linked 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Brooks-Wisniewski-Brown syndrome  
Bullous Dystrophy, Hereditary Macular Type 
Burnett Schwartz Berberian Syndrome +   
CAMFAK Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
Carney complex +   
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebrofaciothoracic Dysplasia  
Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD Syndrome  
Chitty Hall Baraitser Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION  
Christianson syndrome  
chromosomal deletion syndrome +   
Chromosomal Instability with Tissue-Specific Radiosensitivity 
Chromosome 1, Deletion q21 q25 
Chromosome 1, Monosomy 1p 
Chromosome 1, Monosomy 1p22 p13 
Chromosome 1, Monosomy 1p31 p22 
Chromosome 1, Monosomy 1p32 
Chromosome 1, Monosomy 1p34 p32 
Chromosome 1, Monosomy 1q25 q32 
Chromosome 1, Monosomy 1q32 q42 
Chromosome 1, Monosomy 1q4 
Chromosome 10, Monosomy 10q 
chromosome 10q23 deletion syndrome  
Chromosome 11, Deletion 11p 
Chromosome 11p Deletion Syndrome 
Chromosome 11p, Partial Deletion 
Chromosome 11q Partial Deletion 
Chromosome 12p Deletion 
Chromosome 12p Partial Deletion 
Chromosome 13q Deletion Syndrome +   
chromosome 13q14 deletion syndrome  
Chromosome 14q, Partial Deletions 
Chromosome 14q, Terminal Deletion 
chromosome 14q11-q22 deletion syndrome 
Chromosome 15q, partial deletion 
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 16p11.2 deletion syndrome, 220kb 
chromosome 16p12.1 deletion syndrome, 520kb 
chromosome 16p12.2-p11.2 deletion syndrome 
chromosome 16q22 deletion syndrome 
Chromosome 17 Deletion +   
Chromosome 17, Deletion 17q23 q24 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 17q12 deletion syndrome  
chromosome 17q23.1-q23.2 deletion syndrome 
Chromosome 18 Pericentric Inversion 
Chromosome 18, Deletion 18q23 
chromosome 18p deletion syndrome 
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome 
chromosome 1p32-p31 deletion syndrome  
chromosome 1p36 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 1q21.1 duplication syndrome 
chromosome 1q41-q42 deletion syndrome +   
Chromosome 2, Monosomy 2p22 
Chromosome 2, Monosomy 2pter p24 
Chromosome 2, Monosomy 2q 
Chromosome 2, Monosomy 2q24 
Chromosome 20, deletion 20p 
Chromosome 21 Monosomy 
Chromosome 21, Monosomy 21q22 
Chromosome 22, Microdeletion 22 q11 
chromosome 22q11.2 deletion syndrome, distal 
chromosome 22q11.2 microduplication syndrome 
chromosome 2p12-p11.2 deletion 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, Monosomy 3p 
Chromosome 3, Monosomy 3p14 p11 
Chromosome 3, Monosomy 3p2 
Chromosome 3, Monosomy 3p25  
Chromosome 3, Monosomy 3q21 23 
Chromosome 3, Monosomy 3q27 
chromosome 3q13.31 deletion syndrome 
chromosome 3q29 microdeletion syndrome 
Chromosome 4 Short Arm Deletion 
Chromosome 4, 4q Terminal Deletion Syndrome 
Chromosome 4, Monosomy 4p14 p16 
Chromosome 4, Monosomy 4q32 
Chromosome 4q- Syndrome 
chromosome 4q21 deletion syndrome 
chromosome 5p13 duplication syndrome 
chromosome 5q deletion syndrome  
chromosome 5q12 deletion syndrome 
Chromosome 6, Deletion 6q13 q15 
Chromosome 6, Monosomy 6p23 
Chromosome 6, Monosomy 6q 
Chromosome 6, Monosomy 6q1 
Chromosome 6, monosomy 6q2 
chromosome 6pter-p24 deletion syndrome 
chromosome 6q11-q14 deletion syndrome 
chromosome 6q24-q25 deletion syndrome 
Chromosome 7, Monosomy 
Chromosome 7, Monosomy 7q2 
Chromosome 7, Monosomy 7q21 
Chromosome 7, monosomy 7q3 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
Chromosome 8 Deletion +  
Chromosome 8, Monosomy 8p 
Chromosome 8, Monosomy 8p23 1 
Chromosome 8, Monosomy 8q 
Chromosome 8p Deletion Syndrome (partial) 
chromosome 8q21.11 deletion syndrome 
Chromosome 9, Partial Monosomy 9p 
chromosome 9p deletion syndrome  
chromosome Xp21 deletion syndrome 
ciliopathy +   
CK Syndrome  
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
COACH Syndrome  
Cockayne syndrome +   
CODAS Syndrome  
Coffin Syndrome 1 
Coffin-Siris syndrome +   
Cohen Syndrome  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Deafness Hand Syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
De Hauwere Leroy Adriaenssens syndrome 
Deaf-Blind Disorders +   
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Deletion 13q Syndrome, Partial 
Deletion 6q16 q21 
Dermoids of Cornea 
Desmosterolosis  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Devriendt syndrome 
Diaminopentanuria 
Dincsoy Salih Patel Syndrome 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal 10q deletion syndrome 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donohue syndrome +   
Down syndrome +   
Dubowitz syndrome 
Dyschondrosteosis and Nephritis 
ectodermal dysplasia +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Familial Osteochondritis Dissecans  
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
Fetal Growth Retardation +   
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Fumaric Aciduria  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Genee-Wiedemann Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
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 Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Hairy Elbows 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
HAREL-YOON SYNDROME  
Harrod Doman Keele Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hyperphosphatasia with Mental Retardation +   
hypertelorism, microtia, facial clefting syndrome 
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Idiopathic Short Stature, X-Linked  
inclusion-cell disease  
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
Iris Dysplasia Hypertelorism Deafness 
Isolated Noncompaction of the Ventricular Myocardium +   
Jacobsen Distal 11q Deletion Syndrome +  
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jorgenson Lenz Syndrome 
Joubert syndrome 1  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleefstra syndrome +   
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Lambotte Syndrome 
Langer Mesomelic Dysplasia  
Larsen Syndrome, Recessive Type  
Larsen-like syndrome 
Larsen-Like Syndrome, Lethal Type 
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Lateral Meningocele Syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow Syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz Majewski Hyperostotic Dwarfism  
LEOPARD syndrome +   
Leri-Weill dyschondrosteosis  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Light Fixation Seizure Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lung Agenesis +   
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Macrosomia Adiposa Congenita 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Madelung Deformity 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Male Sterility due to Y-Chromosome Deletions 
Malocclusion and Short Stature 
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
McDonough Syndrome 
McKusick Kaufman Syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Meier-Gorlin syndrome +   
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microdontia Hypodontia Short Stature 
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 13  
Microspherophakia with Hernia 
Miller-Dieker lissencephaly syndrome  
Milner Khallouf Gibson Syndrome 
MIRAGE SYNDROME  
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
Mobius syndrome +   
Mollica Pavone Antener Syndrome 
monilethrix +   
Monosomy 7 of Bone Marrow 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple pterygium syndrome +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nijmegen Breakage Syndrome-Like Disorder  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Omodysplasia Type 1  
Onat Syndrome 
Opitz Trigonocephaly Syndrome  
orofaciodigital syndrome +   
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome Recessive 
Otodental Dysplasia 
Paine Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Partington Anderson Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Perisylvian Syndrome +   
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Phelan-McDermid syndrome  
PHGDH deficiency  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pili Torti Developmental Delay Neurological Abnormalities 
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
Polydysspondyly 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
porencephaly +   
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy  
Potocki-Lupski syndrome  
Potocki-Shaffer Syndrome 
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Prader-Willi-Like Syndrome Associated with Chromosome 6 
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Premature Aging, Okamoto Type 
primary microcephaly +   
Primrose Syndrome  
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Prolidase Deficiency  
Proteus syndrome +   
prune belly syndrome +   
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
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 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Raine Syndrome  
Rajab Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Ritscher-Schinzel syndrome +   
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruijs-Aalfs Syndrome  
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
Sammartino De Crecchio Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome 
Say Syndrome 
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Sensorineural Deafness and Male Infertility  
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT Syndrome  
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Slavotinek Pike Mills Hurst Syndrome 
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sonoda Syndrome 
Sotos syndrome +   
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
SQUALENE SYNTHASE DEFICIENCY 
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stern Lubinsky Durrie Syndrome 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Stromme syndrome  
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Synostosis of Talus and Calcaneus with Short Stature 
Tamari Goodman Syndrome 
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Kaurah Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Thakker Donnai Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Robin Sequence 
thrombocytopenia-absent radius syndrome  
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
Total Anonychia with Microcephaly 
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
Trichodental Syndrome 
Trichothiodystrophy Syndromes +   
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 
Vertebral Body Fusion Overgrowth 
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vohwinkel Syndrome  
Volcke Soekarman Syndrome 
Waardenburg's syndrome +   
WAGR syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weaver syndrome  
Weill-Marchesani syndrome +   
Wellesley Carmen French Syndrome 
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Williams-Beuren syndrome +   
Winchester Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Wittwer Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
X Chromosome, Monosomy Xp22 pter 
X Chromosome, Monosomy Xq28 
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome  
ZTTK Syndrome  

Synonyms
Exact Synonyms: chromosome 3pter-P25 deletion syndrome ;   distal monosomy 3p
Primary IDs: OMIM:613792
Alternate IDs: RDO:0010089
Xrefs: ORDO:1620

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