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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +  
Accommodative esotropia  
adult-onset nemaline myopathy 
advanced sleep phase syndrome 
Alagille syndrome +  
alpha-actinopathy +  
alpha-mannosidosis +  
anencephaly +  
Angelman syndrome +  
angioid streaks +  
anterior segment dysgenesis +  
arthrogryposis +  
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 
ataxia telangiectasia 
ATP1A3-associated neurological disorder +  
auditory neuropathy +  
autoimmune/inflammatory optic neuropathy +   
autosomal recessive non-syndromic intellectual disability +  
Axenfeld anomaly 
B4GALT1-congenital disorder of glycosylation 
Bailey-Bloch congenital myopathy 
Behr syndrome 
benign familial infantile epilepsy +  
benign neonatal seizures 
bilateral frontoparietal polymicrogyria 
bilateral generalized polymicrogyria 
bilateral parasagittal parieto-occipital polymicrogyria 
bilateral striopallidodentate calcinosis +  
bilirubin encephalopathy +  
biotin-responsive basal ganglia disease 
blindness - scoliosis - arachnodactyly syndrome 
blue color blindness 
Bohring-Opitz syndrome 
Bosch-Boonstra-Schaaf optic atrophy syndrome 
bradyopsia 
brain-lung-thyroid syndrome 
Brody myopathy 
cardiac anomalies - developmental delay - facial dysmorphism syndrome 
caveolinopathy +  
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 
cerebral amyloid angiopathy +   
cerebral creatine deficiency syndrome +  
cerebral lipidosis with dementia +  
Chiari malformation type I 
Chiari malformation type II 
childhood absence epilepsy  
childhood apraxia of speech 
childhood-onset nemaline myopathy +  
chondroectodermal dysplasia with night blindness 
choroid plexus papilloma 
choroidal neovascularization 
chromosome 2p16.3 deletion syndrome 
chronic fatigue syndrome  
chronic inflammatory demyelinating polyneuropathy 
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 
CK syndrome 
Cohen syndrome 
coloboma +  
coloboma of optic nerve +  
combined pituitary hormone deficiencies, genetic form +  
complex cortical dysplasia with other brain malformations +  
congenital hydrocephalus +  
congenital nystagmus +  
Conjunctival Disorder +  
corneal disease +   
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 
developmental defect of the eye +   
diabetic eye disease +   
dilated cardiomyopathy 3B 
Duane retraction syndrome +  
dyskinesia with orofacial involvement, autosomal dominant 
dyssegmental dysplasia-glaucoma syndrome 
early myoclonic encephalopathy +  
ectodermal dysplasia-blindness syndrome 
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
encephalopathy, acute, infection-induced +   
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +  
epileptic encephalopathy, infantile or early childhood +  
essential strabismus 
essential tremor +   
eye accommodation disease +  
eye adnexa disease +   
eye allergy +  
eye degenerative disorder +   
eye foreign body 
eye hemorrhage +  
eye infectious disorder +   
Eye Injuries, Penetrating 
eye neoplasm +   
eyelid disease +   
familial cavitary optic disk anomaly 
familial congenital mirror movements +  
familial congenital palsy of trochlear nerve 
familial hemiplegic migraine +  
familial hemophagocytic lymphohistiocytosis type 1 
familial hyperprolactinemia 
familial isolated pituitary adenoma +  
familial meningioma 
familial partial epilepsy +   
familial periodic paralysis +   
familial porencephaly +  
familial pterygium of the conjunctiva 
familial retinal arterial macroaneurysm 
familial schizencephaly 
familial syringomyelia 
famililal cerebral cavernous malformations +  
fatty acyl-CoA reductase 1 deficiency 
folinic acid-responsive seizures 
Foster-Kennedy syndrome 
Frey Syndrome 
galactosemia +  
galactosialidosis 
Gardner syndrome 
Gaucher disease +   
generalised epilepsy +   
generalized epilepsy with febrile seizures plus +  
Gerstmann-Straussler-Scheinker syndrome 
glaucoma +   
glaucoma-sleep apnea syndrome 
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 
GLUT1 deficiency syndrome +  
glutaryl-CoA dehydrogenase deficiency 
glycine encephalopathy +  
GM1 gangliosidosis +  
Graves ophthalmopathy  
Griscelli syndrome type 1 
hereditary ataxia +   
hereditary cryohydrocytosis with reduced stomatin 
hereditary hyperekplexia +  
hereditary hyperferritinemia with congenital cataracts 
hereditary narcolepsy 
hereditary neuromuscular disease +   
hereditary night blindness +  
hereditary optic neuropathy +  
hereditary retinoblastoma 
holocarboxylase synthetase deficiency 
holoprosencephaly +  
Hoyeraal-Hreidarsson syndrome 
HSD10 mitochondrial disease +  
hypermanganesemia with dystonia 2 
IgG4-related ophthalmic disorder +  
inborn aminoacylase deficiency +  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 
inherited dystonia +  
inherited neurodegenerative disorder +   
inherited orthostatic hypotension +  
inherited reflex epilepsy +  
inherited retinal dystrophy +   
inherited vitreoretinopathy +  
intellectual developmental disorder and retinitis pigmentosa 
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 
intellectual disability, autosomal dominant +  
intellectual disability, autosomal recessive 53 
intellectual disability-hypotonia-spasticity-sleep disorder syndrome 
intellectual disability-severe speech delay-mild dysmorphism syndrome 
intellectual disability-sparse hair-brachydactyly syndrome 
intracranial berry aneurysm +  
IRVAN syndrome 
isolated ankyloblepharon filiforme adnatum 
isolated anophthalmia-microphthalmia syndrome +  
isolated hereditary congenital facial paralysis 
isolated Pierre-Robin syndrome 
Ito hypomelanosis 
Johanson-Blizzard syndrome 
juvenile absence epilepsy 
KBG syndrome 
King-Denborough syndrome 
lacrimal apparatus disease +   
lamellar ichthyosis +  
Landau-Kleffner syndrome +  
lateral meningocele syndrome 
lens disease +   
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 
leukoencephalopathy, megalencephalic +  
Li-Fraumeni syndrome 
linear nevus sebaceous syndrome 
lissencephaly spectrum disorders +  
Lowry-MacLean syndrome 
LTBP2-related ocular dysgenesis +  
Marshall syndrome 
megalencephaly-capillary malformation-polymicrogyria syndrome 
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +  
megalocornea-intellectual disability syndrome 
Mendelian neurodevelopmental disorder +  
MERRF syndrome 
mevalonic aciduria 
microangiopathy and leukoencephalopathy, pontine, autosomal dominant 
microcephaly-complex motor and sensory axonal neuropathy syndrome 
microcornea-corectopia-macular hypoplasia syndrome 
microcornea-glaucoma-absent frontal sinuses syndrome 
microphthalmia +  
mismatch repair cancer syndrome 1 
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 
Mowat-Wilson syndrome +  
Moyamoya disease +   
mucolipidosis type IV 
mucopolysaccharidosis type 1 +  
mucopolysaccharidosis type 6 +  
multiminicore myopathy +  
multiple pterygium-malignant hyperthermia syndrome 
Myhre syndrome 
myoclonic-astatic epilepsy 
myoclonus, familial 
myofibrillar myopathy 5 
myopathy caused by variation in POMGNT1 +  
myopathy due to calsequestrin and SERCA1 protein overload 
myopic macular degeneration 
myosclerosis 
nail-patella syndrome 
Netherton syndrome 
neurocutaneous melanocytosis 
neurofibromatosis +  
neurohypophyseal diabetes insipidus 
neuroocular syndrome 
nevoid basal cell carcinoma syndrome 
Niemann-Pick disease type A 
noise-induced hearing loss  
Non-accomodative esotropia  
nonsyndromic genetic hearing loss +  
NPHP3-related Meckel-like syndrome 
obsessive-compulsive disorder  
occipital pachygyria and polymicrogyria 
occular toxicity 
ocular cystinosis 
ocular hypertension  
ocular motility disease +  
ocular motor apraxia, Cogan type 
ocular posterior capsular rupture 
ocular sarcoidosis  
ocular siderosis 
ocular vascular disease +   
oculocerebrocutaneous syndrome 
oculocerebrorenal syndrome 
oculodentodigital dysplasia +  
oculomucocutaneous syndrome 
Opsoclonus-Myoclonus Syndrome 
optic neuritis +  
orofaciodigital syndrome type 6 
Paraganglioma +  
parietal foramina +  
Parkinson disease +   
parkinsonism with polyneuropathy 
paroxysmal extreme pain disorder 
PAX6-related ocular dysgenesis +  
PEHO-like syndrome 
periventricular nodular heterotopia +  
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 
peroxisomal disease +  
Perry syndrome 
Peters plus syndrome 
phakomatosis pigmentokeratotica 
phakomatosis pigmentovascularis +  
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 
piebaldism 
Pierpont syndrome 
pigment dispersion syndrome  
polyhydramnios, megalencephaly, and symptomatic epilepsy 
pontocerebellar hypoplasia +  
PPP2R1A-related intellectual disability 
Prader-Willi-like syndrome +  
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 
progressive myoclonus epilepsy +  
proximal myopathy with extrapyramidal signs 
PrP systemic amyloidosis 
PRRT2-associated paroxysmal movement disorder +  
ptosis +  
pyridoxal phosphate-responsive seizures 
pyridoxine-dependent epilepsy +  
qualitative or quantitative defects of alpha-sarcoglycan +  
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +  
qualitative or quantitative defects of beta-sarcoglycan +  
qualitative or quantitative defects of delta-sarcoglycan +  
qualitative or quantitative defects of desmin +  
qualitative or quantitative defects of dysferlin +  
qualitative or quantitative defects of gamma-sarcoglycan +  
qualitative or quantitative defects of perlecan +  
qualitative or quantitative defects of plectin +  
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +  
qualitative or quantitative defects of telethonin +  
qualitative or quantitative defects of TRIM32 +  
Rare genetic eye disease +   
red color blindness 
red-green color blindness 
refractive error +   
retinal ciliopathy +  
retinal detachment +   
retinopathy +   
Retrobulbar Hemorrhage 
rhabdoid tumor predisposition syndrome 2 
rhizomelic chondrodysplasia punctata +  
Riley-Day syndrome 
Ritscher-Schinzel syndrome +  
Rothmund-Thomson syndrome type 2 
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 
SATB2 associated disorder +  
Schinzel-Giedion syndrome 
schizophrenia 15 
scleral disorder +  
SERAC1-related neurological disorder +  
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +  
severe congenital nemaline myopathy +  
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 
severe neonatal-onset encephalopathy with microcephaly 
short stature-brachydactyly-obesity-global developmental delay syndrome 
SHORT syndrome 
SIN3A-related intellectual disability syndrome 
SLC39A8-CDG 
SLC6A3-related dopamine transporter deficiency syndrome +  
Smith-Lemli-Opitz syndrome 
Smith-Magenis syndrome 
SPAST-related motor disorder +  
spastic quadriplegic cerebral palsy +  
specific language impairment +   
specific phobia +  
Sturge-Weber syndrome 
stutter disorder +  
subacute myelo-opticoneuropathy 
syndromic recessive X-linked ichthyosis 
SYNGAP1-related developmental and epileptic encephalopathy 
Takayasu arteritis  
TH-deficient dopa-responsive dystonia 
Tietz syndrome 
Tourette syndrome  
TPM2-related myopathy +  
TPM3-related myopathy +  
TTN-related myopathy +  
TUBB3-related tubulinopathy +  
tuberous sclerosis 
typical nemaline myopathy +  
tyrosinemia type II 
undetermined early-onset epileptic encephalopathy +  
uveal disorder +   
Ververi-Brady syndrome 
vitreous body disease +   
X-linked cone dysfunction syndrome with myopia 
X-linked deafness +  
X-linked immunoneurologic disorder 
X-linked intellectual disability +  

Synonyms
Alternate IDs: MONDO:0859193
Xrefs: MEDGEN:1790414 ;   MIM:PS619539 ;   UMLS:C5551362

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