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Ontology Browser

Term:
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development (DOID:9009302)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Arthrogryposis +     
cleft palate +     
craniosynostosis +     
3MC syndrome 1  
3MC syndrome 3  
Aase Smith Syndrome 
Abuse Dwarfism Syndrome 
acrocephalosyndactylia +   
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ARC syndrome +   
Arthrogryposis and Ectodermal Dysplasia 
arthrogryposis due to muscular dystrophy  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Mental Retardation, and Seizures  
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Arthrogryposis, X-Linked, Type V 
Aughton Syndrome 
Aurocephalosyndactyly 
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baller-Gerold syndrome  
Bamforth-Lazarus syndrome  
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
blepharocheilodontic syndrome +   
Bohring Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boylan Dew Greco Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Bruck syndrome +   
Calabro Syndrome 
Camptodactyly-Ichthyosis Syndrome 
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Palate with Ankyloglossia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
Cohen Syndrome  
Cole-Carpenter syndrome +   
Coloboma of Macula and Skeletal Anomalies 
Congenital Arthrogryposis with Anterior Horn Cell Disease  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Congenital Neuropathy with Arthrogryposis Multiplex 
Congenital Symmetric Circumferential Skin Creases +   
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis 2  
Craniosynostosis 3  
Craniosynostosis 4  
Craniosynostosis 5  
Craniosynostosis 6  
Craniosynostosis 7  
Craniosynostosis and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis with Anomalies of the Cranial Base and Digits 
Craniosynostosis with Ectopia Lentis 
Craniosynostosis with Fibular Aplasia 
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
Craniosynostosis, Adelaide Type 
Craniosynostosis, Anal Anomalies, and Porokeratosis 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis, Philadelphia Type 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Craniotelencephalic Dysplasia 
Crouzon syndrome +   
Crumpled Helices and Small Mouth 
Cyprus Facial Neuromusculoskeletal Syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
distal arthrogryposis +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Ehlers-Danlos Syndrome, Musculocontractural Type 2  
Emanuel Syndrome 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiorenal Syndrome 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Familial Popliteal Pterygium Syndrome 
Feingold Trainer Syndrome 
Fetal Akinesia Deformation Sequence +   
Fine-Lubinsky Syndrome 
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frontonasal Dysplasia 2  
Frontonasal Dysplasia 3  
Genito Palato Cardiac Syndrome 
Genoa Syndrome 
German Syndrome 
Gillessen-Kaesbach-Nishimura Dysplasia  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Gordon Syndrome  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Halal Syndrome 
Hardikar Syndrome 
Hay Wells Syndrome Recessive Type 
Hecht Syndrome  
hereditary neuropathy with liability to pressure palsies  
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-McAlpine Syndrome 
hypermethioninemia due to adenosine kinase deficiency  
hypertelorism, microtia, facial clefting syndrome 
Hypodontia Oligodontia with Orofacial Cleft 
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
Iida Kannari Syndrome 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
isolated cleft palate  
Jackson-Weiss syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johnston Aarons Schelley Syndrome 
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kleeblattschaedel Syndrome 
Kniest dysplasia  
Kuster Syndrome 
Ladda Zonana Ramer syndrome 
Lamb-Shaffer Syndrome  
Larsen syndrome  
lethal congenital contracture syndrome +   
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Luscan-Lumish syndrome  
Macrosomia with Lethal Microphthalmia 
Martinez Monasterio Pinheiro Syndrome 
Massa Casaer Ceulemans Syndrome 
McPherson Clemens Syndrome 
Mehta Lewis Patton Syndrome 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microtia, Hearing Impairment, and Cleft Palate  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Minicore Myopathy, Antenatal Onset, with Arthrogryposis 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Muenke syndrome  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Pterygium Syndrome, Lethal Type  
Native American myopathy  
neurogenic arthrogryposis multiplex congenita +   
Non-Lissencephalic Cortical Dysplasia 
Nonsyndromic Trigonocephaly +   
Obesity, Hyperphagia, and Developmental Delay  
Oculomaxillofacial Dysostosis  
Oculomelic Amyoplasia  
Oculopalatocerebral Syndrome 
Ogden syndrome  
Oliver-McFarlane syndrome  
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Opitz Trigonocephaly Syndrome  
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
Palant Cleft Palate Syndrome 
PARC Syndrome 
Partington Anderson Syndrome 
Pelvic Dysplasia Arthrogryposis of Lower Limbs 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pilotto Syndrome 
Plagiocephaly and X-Linked Mental Retardation 
Podder-Tolmie Syndrome 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  
popliteal pterygium syndrome +   
Pseudo-TORCH Syndrome +   
Raine Syndrome  
Rajab Syndrome  
Rapp-Hodgkin syndrome  
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Roifman-Chitayat Syndrome 
Rosselli-Gulienetti Syndrome 
Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 
Sakoda Complex 
Samson Viljoen Syndrome 
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Selective Tooth Agenesis with Orofacial Cleft 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Shprintzen Golberg Craniosynostosis  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Skeletal Dysplasia, San Diego Type 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spranger Schinzel Myers Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
uveal coloboma-cleft lip and palate-intellectual disability  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
VERVERI-BRADY SYNDROME  
X-linked cleft palate with or without ankyloglossia  
Yim Ebbin Syndrome 
Zadik Barak Levin Syndrome 

Synonyms
Exact Synonyms: ACCIID
Primary IDs: OMIM:618265

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