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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Multiple Abnormalities
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Accession:DOID:9007653 term browser browse the term
Definition:Congenital abnormalities that affect more than one organ or body structure.
Synonyms:exact_synonym: MULTIPLE CONGENITAL ANOMALIES;   Multisystem Disorder
 narrow_synonym: H3F3A-RELATED CONDITION;   Multiple congenital anomalies-hypotonia-seizures syndrome
 primary_id: MESH:D000015
 alt_id: RDO:0000254
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      disease 17205
        Developmental Disease 10918
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
            Congenital Abnormalities 5588
              Multiple Abnormalities 2434
                16Q24.3 Microdeletion Syndrome 31
                1q24 Deletion Syndrome 95
                22q11 Deletion Syndrome + 84
                3-methylglutaconic aciduria type 4 0
                3MC syndrome + 18
                3p deletion syndrome 0
                Aase Smith Syndrome 0
                Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 0
                Acrocephalopolydactylous Dysplasia 0
                Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                Adducted Thumbs Syndrome + 2
                Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                Aksu von Stockhausen Syndrome 0
                Al Gazali Aziz Salem Syndrome 0
                Al Kaissi Syndrome 1
                Al-Gazali Syndrome 1
                Alagille syndrome 5
                Angelman syndrome 21
                Anisomastia 0
                Arboleda-Tham syndrome 1
                Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
                Aughton Syndrome 0
                Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 0
                Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
                Axial Mesodermal Dysplasia Spectrum 0
                Bamforth-Lazarus syndrome 2
                Baraitser-Winter syndrome + 2
                Bart-Pumphrey syndrome 1
                Barth syndrome + 4
                Beckwith-Wiedemann syndrome + 7
                Ben Ari Shuper Mimouni Syndrome 0
                Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1
                Beta-Ureidopropionase Deficiency 1
                Bilateral Amastia with Ureteral Triplication and Dysmorphism 0
                Birk-Landau-Perez Syndrome 1
                Bloch-Sulzberger syndrome + 3
                Bowen Syndrome 0
                Brachydactyly, Intraventricular Septal Defect, and Deafness 0
                Brachymesomelia Renal Syndrome 0
                Branchiogenic-Deafness Syndrome 0
                Broad Terminal Phalanges, Familial 0
                Burnett Schwartz Berberian Syndrome 1
                CATIFA Syndrome 2
                CHARGE syndrome 11
                CHILD syndrome 1
                CHOPS Syndrome 1
                CIMDAG SYNDROME 1
                COACH syndrome + 4
                CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 1
                Cardiac, Facial, and Digital Anomalies with Developmental Delay 1
                Carney complex + 3
                Cerebrofaciothoracic Dysplasia 1
                Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 0
                Char syndrome 1
                Chemke Oliver Mallek Syndrome 0
                Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
                Cockayne syndrome + 14
                Coffin-Siris syndrome + 16
                Combined Pituitary Hormone Deficiency, 1 6
                Combined Pituitary Hormone Deficiency, 4 2
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
                Cornelia de Lange syndrome + 16
                Costello syndrome 9
                Costocoracoid Ligament Congenitally Short 0
                Craniofaciofrontodigital Syndrome 0
                Craniofacioskeletal Syndrome 0
                Craniomicromelic Syndrome 0
                Craniosynostosis Syndrome, Autosomal Recessive 23
                Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
                Cree Mental Retardation Syndrome 0
                Cri-du-Chat syndrome + 7
                Crumpled Helices and Small Mouth 0
                Cryptomicrotia Brachydactyly Syndrome 0
                DEEAH Syndrome 1
                DK Phocomelia Syndrome 0
                Deaf-Blind Disorders + 66
                Deafness, Nephritis, Anorectal Malformation 0
                Delayed Cranial Ossification due to CBFB Haploinsufficiency 0
                Desmosterolosis 1
                Devriendt syndrome 0
                Dincsoy Salih Patel Syndrome 0
                Donohue syndrome 1
                Down syndrome + 61
                EVEN-PLUS SYNDROME 1
                Ectrodactyly Cardiopathy Dysmorphism 0
                Elliott Ludman Teebi Syndrome 0
                Ellis Yale Winter Syndrome 0
                Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 0
                Facial Dysmorphism with Multiple Malformations + 3
                Facio Thoraco Genital Syndrome 0
                Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 0
                Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 0
                Feingold Trainer Syndrome 0
                Femur Bifid with Monodactylous Ectrodactyly 0
                Femur Fibula Ulna Syndrome 0
                Filippi syndrome 1
                Fine-Lubinsky Syndrome 0
                Flat Umbilicus Familial 0
                Floating-Harbor syndrome 1
                Forney Robinson Pascoe Syndrome 1
                Fountain Syndrome 0
                Fraser Jequier Chen Syndrome 0
                Fraser syndrome + 20
                Fried Goldberg Mundel Syndrome 0
                Gardner Morrisson Abbot Syndrome 0
                Gardner Syndrome + 2
                Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                Glutamyl Ribose-5-Phosphate Storage Disease 0
                Gomez Lopez Hernandez Syndrome 0
                Gonadal Dysgenesis, XY Type, with Associated Anomalies 0
                Gorlin Chaudhry Moss Syndrome 0
                Grant Syndrome 0
                Growth Deficiency and Mental Retardation with Facial Dysmorphism 4
                Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
                Guttmacher syndrome 1
                HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES 1
                Hadziselimovic Syndrome 0
                Halal Syndrome 0
                Hanhart Syndrome 0
                Harrod Doman Keele Syndrome 0
                Heart Defects Limb Shortening 0
                Hecht Scott Syndrome 0
                Hersh Podruch Weisskopk Syndrome 0
                Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
                Hittner Hirsch Kreh Syndrome 1
                Ho Kaufman Mcalister Syndrome 0
                Holt-Oram syndrome 4
                Holzgreve-Wagner-Rehder syndrome 0
                Hordnes Engebretsen Knudtson syndrome 0
                Hunter-Macdonald Syndrome 0
                Hyperphosphatasia with Mental Retardation + 64
                Hypomelia Mullerian Duct Anomalies 0
                Hypotonia, Seizures, and Precocious Puberty 0
                ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
                Insulin-Like Growth Factor I, Resistance To 1
                Iris Dysplasia Hypertelorism Deafness 0
                Isolated Noncompaction of the Ventricular Myocardium + 99
                JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
                Jarcho-Levin Syndrome 3
                Jequier Kozlowski Skeletal Dysplasia 0
                Jung Wolff Back Stahl Syndrome 0
                KBG syndrome 5
                Kabuki syndrome + 21
                Kapur Toriello Syndrome 0
                Kashani Strom Utley Syndrome 0
                Kasznica Carlson Coppedge Syndrome 0
                Keppen-Lubinsky Syndrome 1
                Keratoconus Posticus Circumscriptus with Associated Malformations 0
                Keutel Syndrome 1
                Khalifa Graham Syndrome 0
                Kleiner Holmes Syndrome 0
                Koolen de Vries syndrome 3
                Kosaki Overgrowth Syndrome 1
                Kosztolanyi Syndrome 0
                Kozlowski Brown Hardwick Syndrome 0
                Krauss Herman Holmes Syndrome 0
                Krieble Bixler Syndrome 0
                Kyphomelic Dysplasia 0
                LADD syndrome 3
                Larsen-Like Syndromes + 5
                Laurence-Moon syndrome 1
                Laurin-Sandrow syndrome 1
                Le Marec Bracq Picaud Syndrome 0
                Lenz-Majewski hyperostotic dwarfism 1
                Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
                Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
                Light Fixation Seizure Syndrome 0
                Loeys-Dietz syndrome + 33
                Lopes Gorlin Syndrome 0
                Lowry Maclean syndrome 0
                Lung Agenesis + 10
                Lutz Richner Landolt Syndrome 0
                Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
                MIRAGE Syndrome 1
                MLS syndrome + 3
                MORM Syndrome 1
                MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED 1
                Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                Macrosomia with Lethal Microphthalmia 0
                Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
                Manouvrier Syndrome 0
                Marden-Walker Syndrome 1
                Marfan syndrome + 209
                Marles Greenberg Persaud Syndrome 1
                Marshall-Smith syndrome 6
                McDonough Syndrome 0
                McKusick-Kaufman syndrome 1
                McPherson Clemens Syndrome 0
                Megalencephaly - Cutis Marmorata Telangiectatica Congenita 3
                Megarbane Jalkh Syndrome 0
                Megarbane Syndrome 0
                Mehes Syndrome 0
                Melhem Fahl Syndrome 0
                Menke-Hennekam Syndrome + 2
                Mental Retardation, Buenos Aires Type 0
                Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
                Mesomelia-Synostoses Syndrome 0
                Mesomelic Limb Shortening and Bowing 0
                Michels Caskey Syndrome 0
                Microcephaly Albinism Digital Anomalies Syndrome 0
                Microcephaly Seizures Mental Retardation Heart Disorders 0
                Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange + 463
                Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                Microdontia Hypodontia Short Stature 0
                Microspherophakia with Hernia 0
                Mobius syndrome + 16
                Morillo-Cucci Passarge Syndrome 0
                Mousa Al din Al Nassar Syndrome 0
                Mucopolysaccharidosis-Plus Syndrome 1
                Muller Barth Menger Syndrome 0
                Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 0
                Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
                NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES 1
                Nablus Mask-Like Facial Syndrome 0
                Nasopalpebral Lipoma Coloboma Syndrome 1
                Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
                Netherton syndrome 3
                Neu-Laxova syndrome 1 2
                Neu-Laxova syndrome 2 1
                Neurofaciodigitorenal Syndrome 0
                Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
                Noonan syndrome with multiple lentigines + 9
                Novak Syndrome 0
                Oculocerebral Hypopigmentation Syndrome Type Preus 0
                Oculopalatocerebral Syndrome 0
                Oculorenocerebellar Syndrome 0
                Ogden syndrome 1
                Oslam syndrome 0
                POEMS syndrome 0
                Palant Cleft Palate Syndrome 0
                Pallister W Syndrome 0
                Pallister-Hall syndrome + 2
                Patterson Pseudoleprechaunism Syndrome 0
                Pelvis-Shoulder Dysplasia 0
                Penoscrotal Transposition 0
                Pentalogy of Cantrell 0
                Petty Laxova Wiedemann Syndrome 0
                Pfeiffer Kapferer Syndrome 0
                Pfeiffer Mayer Syndrome 0
                Pfeiffer Palm Teller Syndrome 0
                Pfeiffer Tietze Welte Syndrome 0
                Piepkorn Karp Hickok syndrome 0
                Pierson syndrome 14
                Pilotto Syndrome 0
                Podder-Tolmie Syndrome 0
                Pointer Syndrome 0
                Potocki-Lupski syndrome 42
                Powell Chandra Saal Syndrome 0
                Prader-Willi syndrome + 17
                Premature Aging, Okamoto Type 0
                Primrose Syndrome 1
                Proteus syndrome + 2
                Pseudoaminopterin Syndrome 0
                Qazi Markouizos syndrome 0
                RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
                Radial Defect Robin Sequence 0
                Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
                Radial Ray Hypoplasia Choanal Atresia 0
                Radio-Ulnar Synostosis Type 1 0
                Radio-Ulnar Synostosis Type 2 0
                Raine Syndrome 1
                Ramos Arroyo Clark Syndrome 0
                Renal Hypophosphatemia with Intracerebral Calcifications 0
                Renal Tubular Dysgenesis with Choanal Atresia and Athelia 0
                Ritscher-Schinzel syndrome + 4
                Rozin Hertz Goodman Syndrome 0
                Rubella Syndrome, Congenital 0
                Rubinstein-Taybi syndrome + 25
                Rudiger Syndrome 0
                Ruvalcaba Syndrome 0
                SATB2-associated syndrome 1
                SCARF Syndrome 0
                SHASHI-PENA SYNDROME 1
                SIFRIM-HITZ-WEISS SYNDROME 2
                STANKIEWICZ-ISIDOR SYNDROME 1
                SULEIMAN-EL-HATTAB SYNDROME 1
                Saal Bulas Syndrome 0
                Sackey Sakati Aur Syndrome 0
                Sacral Meningocele Conotruncal Heart Defects 0
                Samson Viljoen Syndrome 0
                Sanderson Fraser Syndrome 0
                Sandhaus Ben-Ami Syndrome 0
                Sao Paulo MCA/MR Syndrome 0
                Say Field Coldwell syndrome 0
                Say Meyer Syndrome 1
                Say Syndrome 0
                Schaefer Stein Oshman Syndrome 0
                Schinzel-Giedion Syndrome 1
                Schrander-Stumpel Theunissen Hulsmans Syndrome 0
                Seaver Cassidy Syndrome 0
                Seckel Like Syndrome Type Buebel 0
                Seckel syndrome + 14
                Seemanova Lesny Syndrome 0
                Seow Najjar Syndrome 0
                Sharma Kapoor Ramji Syndrome 0
                Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                Shprintzen Omphalocele Syndrome 0
                Siegler Brewer Carey Syndrome 0
                Silengo Lerone Pelizza Syndrome 0
                Silver-Russell syndrome + 8
                Simpson-Golabi-Behmel syndrome type 2 1
                Smith-Lemli-Opitz syndrome + 4
                Smith-Magenis syndrome + 14
                Sotos syndrome + 4
                Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
                Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 0
                Squalene Synthase Deficiency 2
                Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
                Stevenson-Carey Syndrome 0
                Stoelinga de Koomen Davis Syndrome 0
                Tamari Goodman Syndrome 0
                Teebi Shaltout Syndrome 0
                Teebi Syndrome 0
                Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 0
                Thakker Donnai Syndrome 0
                Thomas Jewett Raines Syndrome 0
                Thomas Syndrome 0
                Thoracolaryngopelvic Dysplasia 0
                Thymic Aplasia with Fetal Death 0
                Tollner Horst Manzke Syndrome 0
                Townes-Brocks syndrome + 2
                Tricho-Dento-Osseous Syndrome 1 0
                Triphalangeal Thumbs Brachyectrodactyly 0
                Trisomy 18-Like Syndrome 0
                Tsukahara Syndrome 1
                Urioste Martinez-Frias Syndrome 0
                Urogenital Adysplasia 0
                Uropathy Distal Obstructive Polydactyly 0
                Uruguay faciocardiomusculoskeletal syndrome 1
                VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS 2
                Van Maldergem syndrome + 2
                Van den Ende-Gupta syndrome 1
                Van der Woude Syndrome 2 3
                Van der Woude syndrome + 5
                Velofacioskeletal Syndrome 0
                Verheij Syndrome 1
                Verloove-Vanhorick Brubakk Syndrome 0
                Vertebral, Cardiac, Renal, and Limb Defects Syndromes + 3
                Vohwinkel syndrome 1
                WT Limb Blood Syndrome 0
                Waardenburg's syndrome + 14
                Walbaum Titran Durieux Crepin Syndrome 0
                Warburg micro syndrome + 4
                Weaver syndrome 3
                Weill-Marchesani syndrome + 5
                Weyers Ulnar Ray/Oligodactyly Syndrome 0
                Weyers acrofacial dysostosis 2
                White Forelock with Malformations 0
                Wiedemann Grosse Dibbern Syndrome 0
                Winchester syndrome 1
                Winter Harding Hyde Syndrome 0
                Wolf-Hirschhorn syndrome 6
                Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 0
                XK Aprosencephaly 0
                YOU-HOOVER-FONG SYNDROME 1
                Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                Yim Ebbin Syndrome 0
                ZTTK Syndrome 1
                Zadik Barak Levin Syndrome 0
                Zechi-Ceide Syndrome 0
                Zellweger syndrome + 26
                Zimmerman Laband Syndrome + 3
                ablepharon macrostomia syndrome 1
                asphyxiating thoracic dystrophy + 44
                autosomal dominant non-syndromic intellectual disability 22 1
                bilateral perisylvian polymicrogyria + 4
                branchiooculofacial syndrome 1
                branchiootorenal syndrome + 10
                caudal regression syndrome 6
                chromosome 15q26-qter deletion syndrome 14
                chromosome 19q13.11 deletion syndrome 1
                chromosome 1q21.1 deletion syndrome 8
                chromosome 22q11.2 microduplication syndrome 0
                chromosome 2p16.1-p15 deletion syndrome 1
                chromosome 2q31.2 deletion syndrome 0
                chromosome 5p13 duplication syndrome 0
                ciliopathy + 276
                congenital secretory sodium diarrhea 3 1
                craniofacial-deafness-hand syndrome 1
                deafness, dystonia, and cerebral hypomyelination 1
                deafness-intellectual disability, Martin-Probst type syndrome 0
                distal arthrogryposis type 7 2
                ectodermal dysplasia + 385
                fibrochondrogenesis + 2
                hand-foot-genital syndrome 1
                holoprosencephaly + 71
                hypoparathyroidism-retardation-dysmorphism syndrome 2
                lateral meningocele syndrome 1
                linear nevus sebaceous syndrome + 4
                megacystis-microcolon-intestinal hypoperistalsis syndrome + 6
                monilethrix + 3
                mucolipidosis II alpha/beta 2
                multiple congenital anomalies-hypotonia-seizures syndrome + 6
                multiple pterygium syndrome + 5
                nail-patella syndrome + 2
                nevoid basal cell carcinoma syndrome + 10
                oculocerebrorenal syndrome + 8
                orofaciodigital syndrome + 17
                polycystic kidney disease + 140
                postaxial acrofacial dysostosis 1
                prolidase deficiency 1
                prune belly syndrome + 3
                spondylocarpotarsal synostosis syndrome 2
                spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 1
                tetraamelia syndrome + 2
                trichothiodystrophy + 8
                ulnar-mammary syndrome 1
                vertebral anomalies and variable endocrine and T-cell dysfunction 1
                visceral heterotaxy + 91
    paths to the root