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Term:
syndromic disease
(EFO:MONDO:0002254)
Annotations:
Rat: (0)
Mouse: (0)
Human: (2493)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
Naked Mole-rat: (0)
Green Monkey: (0)
Parent Terms
Term With Siblings
Child Terms
disease
+
acute disease
+
animal disease
+
breast disease
+
cancer or benign tumor
+
cardiovascular disease
+
chromosomal disorder
+
chronic disease
+
complication
+
connective tissue disease
+
digestive system disease
+
disease related to transplantation
+
disorder of development or morphogenesis
+
disorder of visual system
+
endocrine system disease
+
genetic disorder
+
head and neck disorder
+
hematologic disease
+
iatrogenic disease
+
idiopathic disease
+
immune system disease
+
infectious disease
+
inflammatory disease
+
integumentary system disease
+
metabolic disease
+
mitochondrial disease
+
musculoskeletal system disease
+
nervous system disease
+
obstetric disorder
+
occupational disorder
+
otorhinolaryngologic disease
+
perinatal disease
+
perineum disease
poisoning
+
post-infectious disorder
+
premature aging syndrome
+
psychiatric disorder
+
radiation-induced disorder
+
reproductive system disease
+
respiratory system disease
+
soft tissue disease
sudden infant death syndrome
+
syndromic disease
+
A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.
ulcer disease
+
upper digestive tract disorder
+
urinary system disease
+
urogenital neoplasm
+
3-M syndrome
46,XX disorder of sex development-anorectal anomalies syndrome
48,XXXY syndrome
48,XXYY syndrome
48,XYYY syndrome
49,XXXXY syndrome
6q terminal deletion syndrome
8p23.1 microdeletion syndrome
Aagenaes syndrome
abdominal obesity-metabolic syndrome
+
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia-alacrima syndrome
Achenbach syndrome
acrocallosal syndrome
acrofrontofacionasal dysostosis 2
Acrootoocular syndrome
acute chest syndrome
acute coronary syndrome
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute respiratory distress syndrome
+
Adie syndrome
Aicardi syndrome
Al-Gazali syndrome
Alagille syndrome
+
Alkuraya-Kucinskas syndrome
alopecia - intellectual disability syndrome
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
alpha 1-antitrypsin deficiency
alpha thalassemia-intellectual disability syndrome type 1
alpha-thalassemia-myelodysplastic syndrome
Alport syndrome
+
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alstrom syndrome
ANE syndrome
Angelman syndrome
+
angioosteohypertrophic syndrome
angioosteohypotrophic syndrome
aniridia - intellectual disability syndrome
aniridia-absent patella syndrome
aniridia-cerebellar ataxia-intellectual disability syndrome
aniridia-ptosis-intellectual disability-familial obesity syndrome
aniridia-renal agenesis-psychomotor retardation syndrome
ankyloblepharon filiforme adnatum-cleft palate syndrome
ankyloblepharon filiforme-imperforate anus syndrome
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
anterior spinal artery syndrome
antiphospholipid syndrome
aplasia cutis congenita-intestinal lymphangiectasia syndrome
aplasia of lacrimal and salivary glands
arachnodactyly-intellectual disability-dysmorphism syndrome
Armfield syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome
+
Arts syndrome
ataxia - telangiectasia variant
Atkin-Flaitz syndrome
atrial septal defect, coronary sinus type
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
atypical hemolytic-uremic syndrome
+
autism-facial port-wine stain syndrome
autoimmune polyendocrinopathy
+
autoinflammatory syndrome
+
autosomal dominant cataract
autosomal dominant chondrodysplasia punctata
+
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
autosomal recessive multiple pterygium syndrome
+
Axenfeld-Rieger syndrome
+
axial mesodermal dysplasia spectrum
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Bamforth-Lazarus syndrome
Baraitser-Winter cerebrofrontofacial syndrome
+
Bardet-Biedl syndrome
+
Barre-Lieou syndrome
Bartter syndrome
+
Basilicata-Akhtar syndrome
Behcet's syndrome
Bencze syndrome
Bernard-Soulier syndrome
Birt-Hogg-Dube syndrome
+
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Bloom syndrome
BNAR syndrome
Bonnemann-Meinecke-Reich syndrome
brachydactyly type A2
brachydactyly-arterial hypertension syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachytelephalangy-dysmorphism-Kallmann syndrome
brain abnormalities, neurodegeneration, and dysosteosclerosis
branchio-oto-renal syndrome
branchiootic syndrome
BRESEK syndrome
Brown-Sequard Syndrome
Bruck syndrome
Brugada syndrome
+
burning mouth syndrome
Buschke-Ollendorff syndrome
CADDS
campomelia, Cumming type
Camurati-Engelmann disease
capillary leak syndrome
carcinoid syndrome
Cardiac-urogenital syndrome
cardioectodermal syndrome
+
cardiomyopathy-cataract-hip spine disease syndrome
cat-eye syndrome
cataract - microcornea syndrome
cataract-deafness-hypogonadism syndrome
cataract-glaucoma syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
cataract-nephropathy-encephalopathy syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
+
Cauda equina syndrome
caudal duplication
caudal regression-sirenomelia spectrum
+
causalgia
CEDNIK syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
central hypoventilation syndrome, late-onset
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
central sleep apnea syndrome
+
cerebellar ataxia, intellectual disability, and dysequilibrium
+
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
+
cerebrocostomandibular syndrome
Cerebrorenodigital syndrome
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Char syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
CHARGE syndrome
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
chondrodysplasia
+
chondrodysplasia-pseudohermaphroditism syndrome
Christianson syndrome
chromosome 13q14 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chronic atrial and intestinal dysrhythmia
chronic fatigue syndrome
Churg-Strauss syndrome
circumscribed cutaneous aplasia of the vertex
cleft lip-retinopathy syndrome
cleft lip/palate-deafness-sacral lipoma syndrome
cleidocranial dysplasia 1
cleidorhizomelic syndrome
cloacal exstrophy
CLOVES syndrome
cochleosaccular degeneration-cataract syndrome
CODAS syndrome
Coffin-Siris syndrome
+
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
Cole-Carpenter syndrome
compartment syndrome
+
complex hereditary spastic paraplegia
+
congenital cataract-ichthyosis syndrome
congenital hereditary facial paralysis-variable hearing loss syndrome
congenital ichthyosis-microcephalus-tetraplegia syndrome
congenital laryngeal web
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital myasthenic syndrome
+
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
corneal dystrophy-perceptive deafness syndrome
corneal-cerebellar syndrome
Cornelia de Lange syndrome
corpus callosum agenesis-abnormal genitalia syndrome
cortical blindness-intellectual disability-polydactyly syndrome
cortical dysplasia-focal epilepsy syndrome
corticobasal degeneration disorder
Crandall syndrome
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofacial microsomia
craniofrontonasal syndrome
Cri-du-chat syndrome
Crigler-Najjar syndrome
+
Currarino triad
Cushing syndrome
+
cystic fibrosis-gastritis-megaloblastic anemia syndrome
cystinuria
+
Czeizel-Losonci syndrome
de Sanctis-Cacchione syndrome
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
deafness-hypogonadism syndrome
deafness-infertility syndrome
deafness-intellectual disability, Martin-Probst type syndrome
deafness-lymphedema-leukemia syndrome
Denys-Drash syndrome
dermochondrocorneal dystrophy
developmental and speech delay due to SOX5 deficiency
diabetes, deafness, developmental delay, and short stature syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
DICER1-related tumor predisposition
+
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
digital anomalies-intellectual disability-short stature syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1E
disappearing bone disease
+
distal monosomy 13q
distal trisomy 14q
diverticulosis of bowel, hernia, and retinal detachment
DK1-congenital disorder of glycosylation
DNA ligase IV deficiency
Donohue syndrome
DOORS syndrome
double uterus-hemivagina-renal agenesis syndrome
dry eye syndrome
Duane retraction syndrome
+
Duane-radial ray syndrome
+
Dubin-Johnson syndrome
dumping syndrome
Dyggve-Melchior-Clausen disease
+
dyschondrosteosis-nephritis syndrome
dyssegmental dysplasia-glaucoma syndrome
ectodermal dysplasia syndrome
+
ectrodactyly-polydactyly syndrome
EDICT syndrome
EEC syndrome
+
Ehlers-Danlos syndrome
+
Eisenmenger syndrome
Elsahy-Waters syndrome
empty sella syndrome
enlarged vestibular aqueduct syndrome
epidermal nevus syndrome
epidermolysis bullosa simplex 5B, with muscular dystrophy
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Erdheim-Chester disease
ermine phenotype
euthyroid sick syndrome
Evans syndrome
even-plus syndrome
exfoliation syndrome
eyebrow duplication-syndactyly syndrome
faciodigitogenital syndrome
+
familial chylomicronemia syndrome
+
familial episodic pain syndrome with predominantly lower limb involvement
familial infantile bilateral striatal necrosis
familial intestinal malrotation-facial anomalies syndrome
familial long QT syndrome
+
familial osteodysplasia, Anderson type
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Fanconi renotubular syndrome
+
Feingold syndrome
+
Felty's syndrome
ferro-cerebro-cutaneous syndrome
fetal akinesia deformation sequence
+
fetal enterovirus syndrome
fg syndrome
+
fibromatosis multiple non ossifying
fibromyalgia
fibular aplasia-ectrodactyly syndrome
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
Finnish type amyloidosis
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
fragile X syndrome
fragile X-associated tremor/ataxia syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Frasier syndrome
FRAXF syndrome
Freeman-Sheldon syndrome
frontofacionasal dysplasia
Fryns syndrome
Galloway-Mowat syndrome
+
Gamstorp-Wohlfart syndrome
genitopatellar syndrome
German syndrome
Gilbert syndrome
gingival fibromatosis-facial dysmorphism syndrome
GIST-plus syndrome
Gitelman syndrome
glaucoma-sleep apnea syndrome
global developmental delay with or without impaired intellectual development
global developmental delay, progressive ataxia, and elevated glutamine
global developmental delay-osteopenia-ectodermal defect syndrome
GMS syndrome
Goldberg-Shprintzen syndrome
gray platelet syndrome
Greig cephalopolysyndactyly syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
growth delay-hydrocephaly-lung hypoplasia syndrome
growth hormone insensitivity syndrome
+
growth retardation-mild developmental delay-chronic hepatitis syndrome
Grubben-de Cock-Borghgraef syndrome
Guillain-Barre syndrome
+
Guttmacher syndrome
hair defect with photosensitivity and intellectual disability syndrome
hand-foot-genital syndrome
hantavirus pulmonary syndrome
Hartsfield-Bixler-Demyer syndrome
hearing impairment and infertile male syndrome
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
heart-hand syndrome
+
HELLP syndrome
hemophagocytic syndrome
+
Hennekam syndrome
+
hepatic fibrosis-renal cysts-intellectual disability syndrome
hepatorenal syndrome
hereditary benign intraepithelial dyskeratosis
hereditary continuous muscle fiber activity
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
hereditary sensory and autonomic neuropathy with deafness and global delay
high myopia-sensorineural deafness syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
holoprosencephaly
+
holoprosencephaly-postaxial polydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
Houge-Janssens syndrome
+
human HOXA1 syndromes
+
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
hydrocephalus-blue sclerae-nephropathy syndrome
hydrocephalus-obesity-hypogonadism syndrome
hydrocephaly-cerebellar agenesis syndrome
Hypereosinophilic syndrome
+
hypergonadotropic hypogonadism-cataract syndrome
hypertrichotic osteochondrodysplasia Cantu type
hypogonadism-mitral valve prolapse-intellectual disability syndrome
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome
+
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
hypospadias-intellectual disability, Goldblatt type syndrome
hypotonia-cystinuria syndrome
+
hypotrichosis-deafness syndrome
hypotrichosis-intellectual disability, Lopes type
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
ichthyosis linearis circumflexa
ichthyosis prematurity syndrome
ichthyosis-cheek-eyebrow syndrome
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ichthyosis-oral and digital anomalies syndrome
IFAP syndrome
+
IMAGe syndrome
Imerslund-Grasbeck syndrome
+
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
imperforate oropharynx-costo vetebral anomalies syndrome
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
+
infantile convulsions and choreoathetosis
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inflammatory bowel disease, immunodeficiency, and encephalopathy
infundibulopelvic stenosis-multicystic kidney syndrome
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with macrocephaly, seizures, and speech delay
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual developmental disorder, autosomal recessive 72
intellectual disability, autosomal dominant 29
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
intellectual disability-cataracts-kyphosis syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-expressive aphasia-facial dysmorphism syndrome
intellectual disability-hypotonia-skin hyperpigmentation syndrome
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
intellectual disability-strabismus syndrome
IRF6-related condition
+
iridocorneal endothelial syndrome
+
irritable bowel syndrome
ischio-vertebral syndrome
Jaberi-Elahi syndrome
Jacobsen syndrome
jaw-winking syndrome
+
joint laxity, short stature, and myopia
Joubert syndrome
+
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
+
Kabuki syndrome
Kallmann syndrome
+
Kearns-Sayre syndrome
Kenny-Caffey syndrome
+
keratosis follicularis-dwarfism-cerebral atrophy syndrome
KINSSHIP syndrome
Kleine-Levin Syndrome
Kluver-Bucy syndrome
Landau-Kleffner syndrome
+
laryngeal abductor paralysis-intellectual disability syndrome
laryngo-onycho-cutaneous syndrome
lateral medullary syndrome
Laurence-Moon syndrome
left ventricular noncompaction
+
left-right axis malformations
Lennox-Gastaut syndrome
+
Lenz-Majewski hyperostotic dwarfism
Lesch-Nyhan syndrome
lethal congenital contracture syndrome 1
lethal hemolytic anemia-genital anomalies syndrome
lethal multiple pterygium syndrome
+
Liberfarb syndrome
Liddle syndrome
+
linkeropathy
+
Loeys-Dietz syndrome
+
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
Lowe-Kohn-Cohen syndrome
lower limb deficiency-hypospadias syndrome
Lown-Ganong-Levine syndrome
Lui-Jee-Baron syndrome
lung agenesis-heart defect-thumb anomalies syndrome
Luscan-Lumish syndrome
lymphedema-atrial septal defects-facial changes syndrome
lymphedema-cerebral arteriovenous anomaly syndrome
lymphedema-distichiasis syndrome
macrocephaly-short stature-paraplegia syndrome
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
mandibulofacial dysostosis with alopecia
Marfan syndrome
+
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
Mauriac syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome
+
McCune-Albright syndrome
Meacham syndrome
Meckel syndrome
+
MEDNIK syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
+
megalencephaly-polydactyly syndrome
Meier-Gorlin syndrome
MELAS syndrome
Melhem-Fahl syndrome
Melkersson-Rosenthal syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
Menkes disease
MERRF syndrome
mesomelic dwarfism-cleft palate-camptodactyly syndrome
metaphyseal chondrodysplasia, Jansen type
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
microcephalic osteodysplastic primordial dwarfism types I and III
+
microcephalic primordial dwarfism due to RTTN deficiency
+
microcephalic primordial dwarfism, Alazami type
microcephalic primordial dwarfism, Toriello type
microcephaly and chorioretinopathy 1
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-brain defect-spasticity-hypernatremia syndrome
microcephaly-capillary malformation syndrome
microcephaly-complex motor and sensory axonal neuropathy syndrome
microcephaly-microcornea syndrome, Seemanova type
microlissencephaly-micromelia syndrome
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mietens syndrome
Mikati-Najjar-Sahli syndrome
miliaria
+
Miller Fisher syndrome
Miller-Dieker lissencephaly syndrome
MIRAGE syndrome
mirror polydactyly-vertebral segmentation-limbs defects syndrome
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mitochondrial neurogastrointestinal encephalomyopathy
Mobius syndrome
+
monosomy 13q34
motor developmental delay due to 14q32.2 paternally expressed gene defect
+
MPI-congenital disorder of glycosylation
mucopolysaccharidosis type 2
+
mucopolysaccharidosis type 3
+
mucopolysaccharidosis type 4
+
mucopolysaccharidosis type 6
+
mulibrey nanism
mullerian derivatives-lymphangiectasia-polydactyly syndrome
mullerian duct anomalies-limb anomalies syndrome
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
multiple synostoses syndrome
+
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
muscular pseudohypertrophy-hypothyroidism syndrome
myoclonic-astatic epilepsy
myopathy-growth delay-intellectual disability-hypospadias syndrome
myotonic syndrome
+
Nager acrofacial dysostosis
nail-patella syndrome
nasopalpebral lipoma-coloboma syndrome
Nathalie syndrome
neonatal aspiration syndrome
+
neonatal ichthyosis-sclerosing cholangitis syndrome
neoplastic syndrome
+
nephrogenic diabetes insipidus-intracranial calcification syndrome
nephronophthisis 1
nephropathy - deafness - hyperparathyroidism syndrome
nephrosis-deafness-urinary tract-digital malformations syndrome
nephrotic syndrome
+
Netherton syndrome
Neu-Laxova syndrome
+
neurodevelopmental disorder with absent language and variable seizures
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neuroleptic malignant syndrome
neurooculocardiogenitourinary syndrome
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
+
nodular neuronal heterotopia
+
Noonan syndrome
+
Noonan syndrome with multiple lentigines
Norman-Roberts syndrome
O'Donnell-Luria-Rodan syndrome
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
obstructive sleep apnea
+
oculo-skeletal-renal syndrome
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
oculocerebrorenal syndrome
oculodental syndrome, Rutherfurd type
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis
+
olivopontocerebellar atrophy-deafness syndrome
Opitz G/BBB syndrome
+
ornithine translocase deficiency
orofaciodigital syndrome I
oromandibular-limb anomalies syndrome
+
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteopenia-intellectual disability-sparse hair syndrome
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
osteoporosis-pseudoglioma syndrome
osteosclerosis-ichthyosis-premature ovarian failure syndrome
otopalatodigital syndrome type 1
Paganini-Miozzo syndrome
PAGOD syndrome
palindromic rheumatism
Pallister-Hall syndrome
+
Pallister-W syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
+
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parana hard-skin syndrome
paraneoplastic syndrome
+
paraplegia-intellectual disability-hyperkeratosis syndrome
parkinsonism-dystonia, infantile
+
PCWH syndrome
Pearson syndrome
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
PEHO syndrome
pelvis syndrome
Pendred syndrome
pentasomy X
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Perlman syndrome
peroxisome biogenesis disorder
+
Perry syndrome
persian gulf syndrome
Peters plus syndrome
Phelan-McDermid syndrome
pili torti-developmental delay-neurological abnormalities syndrome
Pitt-Hopkins syndrome
pituitary stalk interruption syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Poland syndrome
polycystic ovary syndrome
polydactyly-macrocephaly syndrome
polydactyly-myopia syndrome
polyendocrine-polyneuropathy syndrome
polymyalgia rheumatica
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
post-infectious syndrome
+
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Prader-Willi syndrome
+
primary ciliary dyskinesia
+
primary hypergonadotropic hypogonadism-partial alopecia syndrome
primary hypertrophic osteoarthropathy
+
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Primrose syndrome
progeria-short stature-pigmented nevi syndrome
progressive familial intrahepatic cholestasis
+
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive supranuclear palsy
+
Proteus syndrome
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
prune belly syndrome
psoriatic arthritis
+
ptosis-strabismus-ectopic pupils syndrome
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ptosis-vocal cord paralysis syndrome
Qazi Markouizos syndrome
Rabson-Mendenhall syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
radioulnar synostosis-microcephaly-scoliosis syndrome
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
reflex sympathetic dystrophy
renal coloboma syndrome
renal cysts and diabetes syndrome
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Rett syndrome
Reunion island Larsen syndrome
Reye syndrome
RHYNS syndrome
ring chromosome 10
ring chromosome 13
RNU4ATAC spectrum disorder
+
Roberts-SC phocomelia syndrome
Robinow syndrome
+
Roussy-Levy syndrome
Rubinstein Taybi like syndrome
Ruvalcaba syndrome
Say-Barber-Miller syndrome
scalp defects-postaxial polydactyly syndrome
SCARF syndrome
Scheie syndrome
Schilbach-Rott syndrome
Schmid metaphyseal chondrodysplasia
Schwartz-Jampel syndrome
+
scimitar syndrome
Seckel syndrome
+
septooptic dysplasia
severe dermatitis-multiple allergies-metabolic wasting syndrome
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
shone complex
short fifth metacarpals-insulin resistance syndrome
short rib-polydactyly syndrome
+
short stature and microcephaly with genital anomalies
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
SHORT syndrome
shoulder and girdle defects-familial intellectual disability syndrome
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
sick sinus syndrome
+
sickle cell-beta-thalassemia disease syndrome
sickle cell-hemoglobin c disease syndrome
sickle cell-hemoglobin d disease syndrome
sickle cell-hemoglobin E disease syndrome
Siddiqi syndrome
Sillence syndrome
Silver-Russell syndrome
+
Simpson-Golabi-Behmel syndrome
+
Sjogren syndrome
skeletal dysplasia-epilepsy-short stature syndrome
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
Sotos syndrome
spastic ataxia-corneal dystrophy syndrome
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
spina bifida-hypospadias syndrome
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Stankiewicz-Isidor syndrome
Stevens-Johnson syndrome
Stickler syndrome
+
Stiff-Person syndrome
subaortic stenosis-short stature syndrome
subclavian steal syndrome
subcortical band heterotopia
+
substance withdrawal syndrome
+
Susac Syndrome
sweet syndrome
syndactyly-polydactyly-ear lobe syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic agammaglobulinemia
+
syndromic congenital sodium diarrhea
syndromic craniosynostosis
+
syndromic dyslipidemia
+
syndromic intellectual disability
+
syndromic lymphedema
syndromic microphthalmia
+
syndromic oculocutaneous albinism
+
syndromic orbital border hypoplasia
syndromic retinitis pigmentosa
syngnathia multiple anomalies
Takayasu arteritis
tall stature-scoliosis-macrodactyly of the great toes syndrome
Tan-Almurshedi syndrome
tarsal tunnel syndrome
temtamy preaxial brachydactyly syndrome
tethered spinal cord syndrome
tetrasomy 12p
thoracic outlet syndrome
+
thoraco-abdominal enteric duplication
thrombocytopenia-absent radius syndrome
thyrocerebrorenal syndrome
Tietze syndrome
Tolosa-Hunt syndrome
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Tourette syndrome
Townes-Brocks syndrome
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Treacher-Collins syndrome
+
trigonocephaly-short stature-developmental delay syndrome
triple-A syndrome
trisomy 13
+
trisomy 18
+
trisomy X
tubular renal disease-cardiomyopathy syndrome
Turner syndrome
+
type 2 collagenopathy
+
ulnar hypoplasia-split foot syndrome
ulnar-mammary syndrome
umbilical cord ulceration-intestinal atresia syndrome
Usher syndrome
+
VACTERL with hydrocephalus
+
VACTERL/vater association
+
van den Bosch syndrome
Vici syndrome
visceral heterotaxy
+
Waardenburg syndrome
+
Waterhouse-Friderichsen syndrome
Weaver syndrome
Weill-Marchesani syndrome
+
Weiss-Kruszka syndrome
Werner syndrome
Wernicke-Korsakoff syndrome
West syndrome
+
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann-Rautenstrauch syndrome
Wildervanck syndrome
Williams syndrome
Wissler's syndrome
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked corneal dermoid
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked ichthyosis syndrome
+
X-linked lissencephaly with abnormal genitalia
X-linked mandibulofacial dysostosis
X-linked spasticity-intellectual disability-epilepsy syndrome
xeroderma pigmentosum-Cockayne syndrome complex
+
xerosis and growth failure with immune and pulmonary dysfunction syndrome
XFE progeroid syndrome
Yellow Nail Syndrome
Yuksel-Vogel-Bauer syndrome
Yunis-Varon syndrome
Synonyms
Exact Synonyms:
DOID:225
; NCIT:C28193 ; http://identifiers.org/medgen/11688 ; http://identifiers.org/mesh/D013577 ; http://linkedlifedata.com/resource/umls/id/C0039082 ; symptom cluster ; symptom clusters ; syndrome ; syndrome associated with disease or disorder ; syndromes
Alternate IDs:
MONDO:0002254
Xrefs:
DOID:225
; MEDGEN:11688 ;
MESH:D013577
;
NCI:C28193
; OGMS:0000086 ; UMLS:C0039082
External Ontologys:
in_taxon EFO:NCBITaxon:9606
Definition Sources:
NCIT:C28193