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Ontology Browser
Term:
autosomal dominant intellectual developmental disorder 6 (DOID:0070036)
Annotations: Rat: (33) Mouse: (34) Human: (34) Chinchilla: (33) Bonobo: (34) Dog: (34) Squirrel: (34) Pig: (34) Naked Mole-rat: (34) Green Monkey: (34)
Parent Terms Term With Siblings Child Terms
Adams Nance Syndrome 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arboleda-Tham syndrome  
Arthrogryposis, Impaired Intellectual Development, and Seizures  
autosomal dominant intellectual developmental disorder 1  
autosomal dominant intellectual developmental disorder 10  
autosomal dominant intellectual developmental disorder 11  
autosomal dominant intellectual developmental disorder 13  
autosomal dominant intellectual developmental disorder 19  
autosomal dominant intellectual developmental disorder 2  
autosomal dominant intellectual developmental disorder 21  
autosomal dominant intellectual developmental disorder 22  
autosomal dominant intellectual developmental disorder 23  
autosomal dominant intellectual developmental disorder 26  
autosomal dominant intellectual developmental disorder 29  
autosomal dominant intellectual developmental disorder 3  
autosomal dominant intellectual developmental disorder 30  
autosomal dominant intellectual developmental disorder 31  
autosomal dominant intellectual developmental disorder 33  
autosomal dominant intellectual developmental disorder 34  
autosomal dominant intellectual developmental disorder 35  
autosomal dominant intellectual developmental disorder 36  
autosomal dominant intellectual developmental disorder 38  
autosomal dominant intellectual developmental disorder 39  
autosomal dominant intellectual developmental disorder 4  
autosomal dominant intellectual developmental disorder 40  
autosomal dominant intellectual developmental disorder 41  
autosomal dominant intellectual developmental disorder 42  
autosomal dominant intellectual developmental disorder 43  
autosomal dominant intellectual developmental disorder 44  
autosomal dominant intellectual developmental disorder 45  
autosomal dominant intellectual developmental disorder 46  
autosomal dominant intellectual developmental disorder 47  
autosomal dominant intellectual developmental disorder 48  
autosomal dominant intellectual developmental disorder 5  
autosomal dominant intellectual developmental disorder 50  
autosomal dominant intellectual developmental disorder 51  
autosomal dominant intellectual developmental disorder 52  
autosomal dominant intellectual developmental disorder 53  
autosomal dominant intellectual developmental disorder 54  
autosomal dominant intellectual developmental disorder 55  
autosomal dominant intellectual developmental disorder 56  
Autosomal Dominant Intellectual Developmental Disorder 57  
Autosomal Dominant Intellectual Developmental Disorder 58  
Autosomal Dominant Intellectual Developmental Disorder 59  
autosomal dominant intellectual developmental disorder 6  
An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)
Autosomal Dominant Intellectual Developmental Disorder 60  
Autosomal Dominant Intellectual Developmental Disorder 61  
Autosomal Dominant Intellectual Developmental Disorder 62  
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly  
Autosomal Dominant Intellectual Developmental Disorder 64  
Autosomal Dominant Intellectual Developmental Disorder 65  
Autosomal Dominant Intellectual Developmental Disorder 66  
Autosomal Dominant Intellectual Developmental Disorder 67  
Autosomal Dominant Intellectual Developmental Disorder 68  
Autosomal Dominant Intellectual Developmental Disorder 69  
autosomal dominant intellectual developmental disorder 7  
Autosomal Dominant Intellectual Developmental Disorder 70  
Autosomal Dominant Intellectual Developmental Disorder 71  
Autosomal Dominant Intellectual Developmental Disorder 72  
Autosomal Dominant Intellectual Developmental Disorder 73  
Autosomal Dominant Intellectual Developmental Disorder 74  
autosomal dominant intellectual developmental disorder 8  
Baraitser Rodeck Garner syndrome 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
chromosome 15q13.3 microdeletion syndrome  
Clark-Baraitser syndrome  
Coffin-Siris syndrome +   
Coffin-Siris syndrome 9  
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
developmental delay and seizures with or without movement abnormalities  
developmental delay, dysmorphic facies, and brain anomalies  
developmental delay, hypotonia, and impaired language  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
GAND syndrome  
Helsmoortel-Van Der Aa syndrome  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
intellectual developmental disorder with autistic features and language delay, with or without seizures  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  
Koolen de Vries syndrome  
Luo-Schoch-Yamamoto syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
myoclonic-atonic epilepsy  
NESCAV syndrome  
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities  
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies  
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
neurodevelopmental disorder with eye movement abnormalities and ataxia  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
Occipital Cortical Malformations  
optic atrophy 10  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Partington syndrome  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Pierpont syndrome  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
PSAT deficiency  
Qazi Markouizos syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Schuurs-Hoeijmakers syndrome  
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Sifrim-Hitz-Weiss syndrome  
Smith-Kingsmore Syndrome  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
syndromic X-linked intellectual disability 5  
Tranebjaerg Svejgaard syndrome 
Vulto-van Silfout-de Vries syndrome  
White-Sutton syndrome  
X-linked mental retardation Gustavson type  
Xia-Gibbs syndrome  

Synonyms
Exact Synonyms: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6 ;   MRD6 ;   autosomal dominant intellectual developmental disorder 6, with or without seizures ;   autosomal dominant mental retardation 6 ;   autosomal dominant mental retardation 6, with or without seizures ;   autosomal dominant non-syndromic intellectual disability 6
Broad Synonyms: GRIN2B-RELATED CONDITION ;   GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER ;   GRIN2B-RELATED DISORDER
Primary IDs: OMIM:613970
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20890276 "DO" "DO"

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