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22q11 Deletion Syndrome +
3-Methylglutaconic Aciduria Type IV
3C syndrome
Aase Smith syndrome
Abidi X-linked mental retardation syndrome
Ablepharon macrostomia syndrome
Ackerman syndrome
Acrocephalopolydactylous Dysplasia
Acrocephalosyndactylia +
Acromegaloid features, overgrowth, cleft palate, and hernia
Adducted thumb and clubfoot syndrome +
Adducted Thumbs Syndrome
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
Alacrima
Alacrima, Congenital
Alagille Syndrome
Alstrom Syndrome
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome
Angelman Syndrome +
Anisomastia
Anodontia +
Aphalangia syndactyly microcephaly
Aplasia of Lacrimal and Salivary Glands
AREDYLD Syndrome
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arthrogryposis epileptic seizures migrational brain disorder
Aughton syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Aurocephalosyndactyly
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
Axial mesodermal dysplasia spectrum
Bamforth syndrome
Bardet-Biedl Syndrome +
Barth Syndrome +
Basal Cell Nevus Syndrome +
Beckwith-Wiedemann Syndrome +
Behr syndrome
Ben Ari Shuper Mimouni syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Blepharo-cheilo-dontic syndrome
Blepharophimosis syndrome Ohdo type
Blepharophimosis with ptosis, syndactyly, and short stature
Bloom Syndrome
Bonneau Syndrome
Book Syndrome
Bowen syndrome
Brachydactyly, Intraventricular Septal Defect, And Deafness
Brachydactyly-Syndactyly Syndrome
Brachymesomelia renal syndrome
Branchial arch syndrome X-linked
Branchio-Oto-Renal Syndrome +
Branchiogenic-Deafness Syndrome
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian syndrome
Carabelli Anomaly of Maxillary Molar Teeth
Carney Complex +
CATSHL syndrome
Cerebrofaciothoracic Dysplasia
Cerebrofrontofacial Syndrome
Cervical ribs sprengel anomaly anal atresia urethral obstruction
Char syndrome
CHARGE Syndrome
Chemke Oliver Mallek syndrome
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 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
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
COACH syndrome
Cockayne Syndrome +
CODAS syndrome
Coffin-Siris syndrome
Cold-Induced Sweating Syndrome 1
Congenital Disorder Of Glycosylation, Type II
Congenital Disorder Of Glycosylation, Type IIG
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Contiguous Abcd1/Dxs1375e Deletion Syndrome
Costello Syndrome
Costocoracoid ligament congenitally short
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 +
Crumpled helices and small mouth
Cryptomicrotia brachydactyly syndrome
Dacryocystitis +
De Lange Syndrome +
Deaf-Blind Disorders +
Deafness +
Deafness nephritis ano rectal malformation
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)
Deafness, Autosomal Dominant, Due To Mutation In Myo1a
Deafness, Autosomal Recessive 36, Without Vestibular Involvement
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Deafness-Craniofacial Syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Dens in Dente +
Dental Enamel Hypoplasia +
Dentin Dysplasia +
Dentinogenesis Imperfecta +
Dermoodontodysplasia
Desmosterolosis
Devriendt syndrome
Diarrhea 3, Secretory Sodium, Congenital
Diastema, Dental Medial
Dincsoy Salih Patel syndrome
DK Phocomelia Syndrome
Donohue Syndrome +
Down Syndrome +
Dry Eye Syndromes +
Ectodermal Dysplasia +
Ectodermal dysplasia mental retardation syndactyly
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2
Ectrodactyly cardiopathy dysmorphism
Elliott Ludman Teebi syndrome
Ellis Yale Winter syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Euhidrotic ectodermal dysplasia
Eyebrows duplication of, with stretchable skin and syndactyly
Facial Dysmorphism with Multiple Malformations
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Facio thoraco genital syndrome
Faciocardiomelic Dysplasia, Lethal
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Feingold Trainer syndrome
Femur bifid with monodactylous ectrodactyly
Femur fibula ulna syndrome
Fibrochondrogenesis
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Filippi syndrome
Fine-Lubinsky syndrome
Flat umbilicus familial
Floating-harbor syndrome
Forney Robinson Pascoe syndrome
Fountain syndrome
Fraser Jequier Chen syndrome
Fraser Syndrome
Fried Goldberg Mundel syndrome
Frints De Smet Fabry Fryns syndrome
Fused mandibular incisors
Fused Teeth
Gardner Morrisson Abbot syndrome
Gardner Syndrome +
GEMSS syndrome
Genee-Wiedemann syndrome
Glutamyl Ribose-5-Phosphate Storage Disease
Gollop Coates syndrome
Gomez Lopez Hernandez syndrome
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Gorlin Chaudhry Moss syndrome
Grant syndrome
Green Sandford Davison syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
Grubben de Cock Borghgraef syndrome
Hadziselimovic Syndrome
Halal syndrome
Hand foot uterus syndrome
Hanhart syndrome
Harrod Doman Keele syndrome
Hearing Loss, Bilateral +
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
Hearing Loss, Conductive +
Hearing Loss, Functional
Hearing Loss, High-Frequency
Hearing Loss, Mixed Conductive-Sensorineural +
Hearing Loss, Sensorineural +
Hearing Loss, Sudden
Hearing Loss, Unilateral +
Heart defects limb shortening
Hecht Scott syndrome
Hecht syndrome
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
Hersh Podruch Weisskopk syndrome
Heterotaxy Syndrome +
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
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
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
Hyperphosphatasia with Mental Retardation
Hypoglossia-Hypodactylia
Hypomelia mullerian duct anomalies
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypophosphatemia, Renal, with Intracerebral Calcifications
Hypotonia, Seizures, And Precocious Puberty
Ichthyosis-Cheek-Eyebrow Syndrome
Incontinentia Pigmenti +
Insulin-Like Growth Factor I, Resistance To
Iridogoniodysgenesis, dominant type
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 2 with Selective Tooth Agenesis
Kapur Toriello syndrome
Kashani Strom Utley syndrome
Kasznica Carlson Coppedge syndrome
KBG syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Keutel syndrome
Kleiner Holmes syndrome
Knuckle pads, leuconychia and sensorineural deafness
Kosztolanyi syndrome
Kozlowski Brown Hardwick syndrome
Kozlowski-Krajewska syndrome
Krauss Herman Holmes syndrome
Krieble Bixler syndrome
Kyphomelic dysplasia
Lacrimal Duct Obstruction +
Lacrimal Puncta, Absence of
Landy Donnai syndrome
Larsen like syndrome, lethal type
Larsen syndrome, dominant 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
Light Fixation Seizure Syndrome
Loeys-Dietz 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
Marden Walker like syndrome
Marden-Walker syndrome
Marfan Syndrome +
Marles Greenberg Persaud syndrome
Marshall-Smith syndrome
Martin-Probst Deafness-Mental Retardation Syndrome
Martinez Monasterio Pinheiro syndrome
McDonough syndrome
McKusick Kaufman syndrome
McPherson Clemens 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
Melhem Fahl syndrome
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE
Mesomelia-synostoses syndrome
Mesomelic Limb Shortening and Bowing
Michels Caskey syndrome
Microcephaly albinism digital anomalies syndrome
Microcephaly seizures mental retardation heart disorders
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Microdontia hypodontia short stature
Microspherophakia with hernia
Microtia, Hearing Impairment, And Cleft Palate
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
Multiple synostoses syndrome 1
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Nablus mask-like facial syndrome
Naguib-Richieri-Costa syndrome
Nail-Patella Syndrome +
Nance Sweeney chondrodysplasia +
Nance-Horan syndrome
Nasopalpebral lipoma coloboma syndrome
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
Netherton Syndrome
Neu Laxova syndrome
Neurofaciodigitorenal syndrome
Nevus, Sebaceous of Jadassohn +
Novak syndrome
Oculocerebral hypopigmentation syndrome type Preus
Oculocerebrorenal Syndrome +
Oculodentodigital Dysplasia
Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentoosseous dysplasia recessive
Oculootoradial syndrome
Oculopalatocerebral Syndrome
Oculorenocerebellar syndrome
Oculotrichodysplasia
Odontodysplasia +
Odontomicronychial dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Oroacral Syndrome, Verloes-Koulischer Type
Orofacial Cleft 7
Orofaciodigital Syndromes +
Orstavik Lindemann Solberg syndrome
Oslam syndrome
Otodental Dysplasia
Palant cleft palate syndrome
Pallister W syndrome
Pallister-Hall Syndrome
Patterson pseudoleprechaunism syndrome
Pavone Fiumara Rizzo syndrome
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 Rockelein syndrome
Pfeiffer Tietze Welte syndrome
Piepkorn Karp Hickok syndrome
Pierson syndrome
Pilotto syndrome
Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 4
Podder-Tolmie syndrome
POEMS Syndrome
Pointer syndrome
Poland Syndrome
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
Polydactyly, Postaxial, Type A4
Polydactyly, Postaxial, with Dental and Vertebral Anomalies
Polysyndactyly, Crossed
Popliteal Pterygium Syndrome
Popliteal Pterygium Syndrome, Lethal Type
Powell Chandra Saal syndrome
Prader-Willi Syndrome +
Preaxial deficiency, postaxial polydactyly and hypospadias
Premature aging, Okamoto type
Primrose syndrome
Prolidase Deficiency
Proteus Syndrome +
Prune Belly Syndrome +
Pseudoaminopterin syndrome
Pterygium colli mental retardation digital anomalies
Puerto Rican Infant Hypotonia Syndrome
Pulmonary Hypoplasia, Primary
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
Reardon Wilson Cavanagh syndrome
Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Rodrigues blindness
Rokitansky Kuster Hauser syndrome
Rosselli-Gulienetti 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
Sclerosteosis
Scott Bryant Graham syndrome
Seaver Cassidy syndrome
Seckel like syndrome type Buebel
Seemanova Lesny syndrome
Seow Najjar syndrome
Sharma Kapoor Ramji syndrome
Short Rib-Polydactyly Syndrome +
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
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, Type 2
Smith-Lemli-Opitz Syndrome +
Smith-Magenis Syndrome +
Sotos Syndrome +
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spondylocarpotarsal synostosis
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Spondylohypoplasia, arthrogryposis and popliteal pterygium
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Stapes Ankylosis With Broad Thumb And Toes
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stevenson-Carey Syndrome
Stoelinga de Koomen Davis syndrome
Syndactyly Cenani Lenz type
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly, type 2
Syndactyly, type 3
Syndactyly, Type I
Syndactyly, Type IV
Syndactyly, type v
Syndactyly-Polydactyly-Earlobe Syndrome
Synpolydactyly 1
Tamari Goodman syndrome
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Teebi Shaltout syndrome
Teebi syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Teeth, Odd Shapes Of
Temtamy preaxial brachydactyly syndrome
Tetra-amelia with pulmonary hypoplasia
Tetraamelia multiple malformations
Tetraamelia, Autosomal Recessive
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
Timothy syndrome
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
Tollner Horst Manzke syndrome
Tooth Agenesis, Selective, 2
Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 4
Tooth Agenesis, Selective, 5
Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, X-Linked, 1
Tooth, Supernumerary +
Townes-Brocks syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome
Tricho-dento-osseous syndrome 1
Trichodentoosseous Syndrome
Trichothiodystrophy Syndromes +
Triphalangeal thumb polysyndactyly syndrome
Triphalangeal thumbs brachyectrodactyly
Trisomy 18-Like Syndrome
Trueb Burg Bottani syndrome
Tsukahara 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 Wetzburger Verloes syndrome
Velofacioskeletal syndrome
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 +
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
White forelock with malformations
Wiedemann Grosse Dibbern syndrome
Winchester syndrome
Winter Harding Hyde syndrome
Winter Shortland Temple syndrome
Wolf-Hirschhorn Syndrome +
Wolfram Syndrome +
Woolly hair, hypotrichosis, everted lower lip and outstanding ears
WT limb blood syndrome
XK aprosencephaly
Yemenite deaf-blind hypopigmentation syndrome
Yim Ebbin syndrome
Zadik Barak Levin syndrome
Zazam Sheriff Phillips syndrome
Zechi-Ceide Syndrome
Zellweger Syndrome +
Zerres Rietschel Majewski syndrome
Zimmerman Laband syndrome
Zlotogora-Ogur syndrome
Zygodactyly 1
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