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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
3-M syndrome 
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 
ABCD syndrome 
aceruloplasminemia 
achalasia microcephaly syndrome 
acromesomelic dysplasia 2B 
acrorenal syndrome, autosomal recessive 
adrenoleukodystrophy +  
adult-onset autosomal dominant demyelinating leukodystrophy 
Aicardi-Goutieres syndrome +  
Alexander disease +  
alkaline ceramidase 3 deficiency 
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
Alpers syndrome 
Alstrom syndrome 
ANE syndrome 
apparent mineralocorticoid excess 
Ataxia - oculomotor apraxia type 1 
Ataxia with vitamin E deficiency 
Ataxia-telangiectasia 
Atypical progressive supranuclear palsy +  
auditory neuropathy-optic atrophy syndrome 
autosomal dominant deafness - onychodystrophy syndrome 
autosomal dominant optic atrophy +  
autosomal recessive Alport syndrome 
autosomal recessive amelia 
autosomal recessive brachyolmia +  
autosomal recessive cerebellar ataxia +  
autosomal recessive cerebral atrophy 
autosomal recessive complex spastic paraplegia 
autosomal recessive cutis laxa type 1 +  
autosomal recessive cutis laxa type 2 +  
autosomal recessive distal renal tubular acidosis +  
autosomal recessive Ehlers-Danlos syndrome, vascular type 
autosomal recessive Emery-Dreifuss muscular dystrophy 
autosomal recessive epidermolytic ichthyosis 
autosomal recessive faciodigitogenital syndrome 
autosomal recessive familial Mediterranean fever 
autosomal recessive hereditary demyelinating motor and sensory neuropathy 
autosomal recessive humeroradial synostosis 
autosomal recessive hypohidrotic ectodermal dysplasia 
autosomal recessive hypophosphatemic rickets +  
autosomal recessive inherited pseudoxanthoma elasticum 
autosomal recessive intermediate Charcot-Marie-Tooth disease +  
autosomal recessive Kenny-Caffey syndrome 
autosomal recessive limb-girdle muscular dystrophy +  
autosomal recessive multiple pterygium syndrome +  
autosomal recessive non-syndromic intellectual disability +  
autosomal recessive ocular albinism +  
autosomal recessive omodysplasia 
autosomal recessive optic atrophy 
autosomal recessive osteopetrosis +  
autosomal recessive palmoplantar keratoderma and congenital alopecia 
autosomal recessive polycystic kidney disease 
autosomal recessive primary microcephaly +  
autosomal recessive progressive external ophthalmoplegia +  
autosomal recessive proximal renal tubular acidosis 
autosomal recessive Robinow syndrome 
autosomal recessive severe congenital neutropenia +  
autosomal recessive sideroblastic anemia +  
autosomal recessive spastic ataxia +  
autosomal recessive spastic paraplegia type 78 
autosomal recessive spondylocostal dysostosis 
autosomal recessive titinopathy +  
Bardet-Biedl syndrome +  
Barth syndrome 
Bartholin duct cyst 
Bartholin gland neoplasm +  
Behr syndrome 
beta-ketothiolase deficiency 
bifid nose, autosomal recessive 
Bjornstad syndrome 
Bloom syndrome 
Bowen-Conradi syndrome 
brain abnormalities, neurodegeneration, and dysosteosclerosis 
branched-chain keto acid dehydrogenase kinase deficiency 
breast fibrocystic disease +   
breast neoplasm +   
brittle cornea syndrome 
CADDS 
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 
Canavan disease +  
cardiomyopathy-hypotonia-lactic acidosis syndrome 
cartilage-hair hypoplasia +  
cerebrotendinous xanthomatosis 
CHILD syndrome 
CHIME syndrome 
choroidal sclerosis +  
Chédiak-Higashi syndrome 
Classical progressive supranuclear palsy 
cleft lip/palate-ectodermal dysplasia syndrome +  
CLN1 disease 
CLN11 disease 
CLN13 disease 
CLN2 disease 
CLN3 disease 
CLN4A disease 
CLN4B disease 
CLN5 disease 
CLN6 disease 
CLN7 disease 
CLN8 disease 
CLN9 disease 
Cockayne syndrome +  
COFS syndrome +  
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 
Congenital neuronal ceroid lipofuscinosis +  
congenital non-bullous ichthyosiform erythroderma 
congenital prothrombin deficiency 
congenital vertebral-cardiac-renal anomalies syndrome +  
corneal-cerebellar syndrome 
craniometaphyseal dysplasia, autosomal recessive 
craniosynostosis syndrome, autosomal recessive +  
cutaneous mycosis +   
cutis laxa +  
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 
cystic fibrosis  
cystic leukoencephalopathy without megalencephaly 
dacryocystitis-osteopoikilosis syndrome 
de Barsy syndrome +  
disorder of pilosebaceous unit +   
Donnai-Barrow syndrome 
Donohue syndrome 
dyskeratosis congenita, autosomal recessive 5 
Ehlers-Danlos syndrome, classic-like, 2 
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
Ellis-van Creveld syndrome 
eosinophil peroxidase deficiency 
eyelid degenerative disorder +  
familial adenomatous polyposis 2 
familial apolipoprotein C-II deficiency 
familial atypical multiple mole melanoma syndrome 
familial lipoprotein lipase deficiency  
familial tumoral calcinosis +  
fatty acid hydroxylase-associated neurodegeneration 
FLVCR1-related retinopathy with or without ataxia +  
Fraser syndrome 
frontonasal dysplasia with alopecia and genital anomaly 
Galloway-Mowat syndrome +  
gastrointestinal ulceration, recurrent, with dysfunctional platelets 
global developmental delay, progressive ataxia, and elevated glutamine 
glycosylphosphatidylinositol biosynthesis defect 15 
glycosylphosphatidylinositol biosynthesis defect 21 
GM1 gangliosidosis type 1 
GM3 synthase deficiency 
gnb5-related intellectual disability-cardiac arrhythmia syndrome 
growth hormone insensitivity with immune dysregulation 1, autosomal recessive 
GUCY2D-related recessive retinopathy +  
Haim-Munk syndrome 
hair defect with photosensitivity and intellectual disability syndrome 
hearing loss, autosomal recessive +  
heart defects-limb shortening syndrome 
hereditary sensory and autonomic neuropathy type 1 +  
hereditary spastic paraplegia 2 
hereditary spastic paraplegia 39 
homocystinuria without methylmalonic aciduria +  
human HOXA1 syndromes +  
Hutchinson-Gilford progeria syndrome 
hydrolethalus syndrome +  
hyper-IgM syndrome type 2 
hypercalcemia, infantile +  
hypermanganesemia with dystonia 2 
hyperphenylalaninemia due to DNAJC12 deficiency 
hyperphenylalaninemia due to tetrahydrobiopterin deficiency +  
hyperphosphatasia-intellectual disability syndrome 
hypertelorism, microtia, facial clefting syndrome 
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 
hypomyelinating leukodystrophy 10 
hypomyelinating leukodystrophy 12 
hypomyelinating leukodystrophy 13 
hypomyelinating leukodystrophy 5 
hypomyelinating leukodystrophy 6 
hypomyelinating leukodystrophy 9 
hypomyelination with brain stem and spinal cord involvement and leg spasticity 
hypoparathyroidism-retardation-dysmorphism syndrome 
ichthyosis linearis circumflexa 
ichthyosis prematurity syndrome 
Imerslund-Grasbeck syndrome type 2 
immunodeficiency 31B 
immunodeficiency-centromeric instability-facial anomalies syndrome +  
IMPG1-related recessive retinopathy +  
infantile cerebellar-retinal degeneration 
inflammatory bowel disease, immunodeficiency, and encephalopathy 
integumentary system benign neoplasm +   
integumentary system cancer +   
intellectual developmental disorder with short stature and behavioral abnormalities 
intellectual developmental disorder, autosomal recessive 72 
intellectual disability, autosomal recessive 53 
isolated hyperchlorhidrosis 
Johanson-Blizzard syndrome 
joint laxity, short stature, and myopia 
Kahrizi syndrome 
keratinization disease +   
keratoderma hereditarium mutilans 
Krabbe disease +  
Krabbe disease due to saposin A deficiency 
Laron syndrome 
Laurence-Moon syndrome 
Leber hereditary optic neuropathy 
Lessel-Kubisch syndrome 
leukocyte adhesion deficiency +  
leukodystrophy, childhood-onset, remitting 
leukodystrophy, hypomyelinating, 15 
leukodystrophy, hypomyelinating, 17 
leukodystrophy, hypomyelinating, 20 
leukodystrophy, hypomyelinating, 22 
leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 
leukodystrophy, hypomyelinating, 26, with chondrodysplasia 
leukoencephalopathy with bilateral anterior temporal lobe cysts 
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 
leukoencephalopathy with calcifications and cysts 
leukoencephalopathy with mild cerebellar ataxia and white matter edema 
leukoencephalopathy with vanishing white matter +  
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 
leukoencephalopathy, diffuse hereditary, with spheroids 1 
leukoencephalopathy, porphyria-related 
leukoencephalopathy-palmoplantar keratoderma syndrome 
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 
lipoprotein glomerulopathy 
Lopes-Maciel-Rodan syndrome 
lysosomal acid lipase deficiency +  
mandibulofacial dysostosis with alopecia 
megaconial type congenital muscular dystrophy 
megalencephalic leukoencephalopathy with subcortical cysts 
Meier-Gorlin syndrome 
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 
metachromatic leukodystrophy +  
mevalonate kinase deficiency +  
microcephaly, growth restriction, and increased sister chromatid exchange 2 
Microphthalmia - brain atrophy 
microphthalmia with limb anomalies 
microphthalmia-brain atrophy syndrome 
mitochondrial pyruvate carrier deficiency 
Mohr-Tranebjaerg syndrome 
mucosulfatidosis 
mulibrey nanism 
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 2 
multiple intestinal atresia 
multiple mitochondrial dysfunctions syndrome 4 
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 
myopathy, congenital, progressive, with scoliosis 
myotonia congenita, autosomal recessive 
NAD(P)HX dehydratase deficiency 
nail disorder +   
Naxos disease 
nephronophthisis +  
nephropathic cystinosis +  
Nestor-Guillermo progeria syndrome 
Netherton syndrome 
Neu-Laxova syndrome +  
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 
neurodegeneration, childhood-onset, with cerebellar atrophy 
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 
neurodevelopmental disorder with cerebellar hypoplasia and spasticity 
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements 
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 
neuromyelitis optica +   
neuronal ceroid lipofuscinosis 8 northern epilepsy variant 
neuronal ceroid-lipofuscinosis, dominant/recessive 
neuronopathy, distal hereditary motor, autosomal recessive +  
neutral lipid storage disease +  
Niemann-Pick disease type A 
Niemann-Pick disease type B 
Niemann-Pick disease type C +  
Nijmegen breakage syndrome 
Ochoa syndrome 
oculodentodigital dysplasia, autosomal recessive 
odonto-onycho-dermal dysplasia 
odontoleukodystrophy 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 
osteoporosis-pseudoglioma syndrome 
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 
pantothenate kinase-associated neurodegeneration +  
Papillon-Lefevre disease 
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
Pelizaeus-Merzbacher-like disease +  
Pelizeaus-Merzbacher spectrum disorder +  
Pendred syndrome 
permanent neonatal diabetes mellitus 1 
peroxisome biogenesis disorder +  
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +  
Perrault syndrome +  
persistent hyperplastic primary vitreous, autosomal recessive 
PHARC syndrome 
phenylketonuria +  
Pierson syndrome 
POLR3-related leukodystrophy +  
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 
progressive cavitating leukoencephalopathy 
progressive encephalopathy with leukodystrophy due to DECR deficiency 
Progressive epilepsy - intellectual disability, Finnish type 
PROM1-related recessive retinopathy +  
proteosome-associated autoinflammatory syndrome +  
Proteus-like syndrome 
pseudo-TORCH syndrome +  
pseudohypoaldosteronism, type IB2, autosomal recessive 
pseudoxanthoma elasticum (inherited or acquired) +  
Rajab interstitial lung disease with brain calcifications 1 
rapadilino syndrome 
ravine syndrome 
Refsum disease 
retinal dystrophy with leukodystrophy 
rhizomelic chondrodysplasia punctata type 1 
ribose-5-P isomerase deficiency 
Roberts-SC phocomelia syndrome 
Rombo syndrome 
RPE65-related recessive retinopathy +  
Sandhoff disease +  
SchC6pf-Schulz-Passarge syndrome 
Schwartz-Jampel syndrome +  
SCN4A-related myopathy, autosomal recessive +  
sea-blue histiocyte syndrome 
Seckel syndrome +  
Sengers syndrome 
Senior-Loken syndrome +  
severe combined immunodeficiency due to CARMIL2 deficiency 
short stature and microcephaly with genital anomalies 
Shwachman-Diamond syndrome 
sickle cell anemia +   
Siddiqi syndrome 
sitosterolemia 
Sjogren-Larsson syndrome 
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
skin appendage disorder +   
skin disease +   
skin fragility-woolly hair-palmoplantar keratoderma syndrome 
Smith-Lemli-Opitz syndrome 
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 
Spastic paraplegia type 2 
spastic tetraplegia and axial hypotonia, progressive 
spinocerebellar ataxia 27A 
Spinocerebellar ataxia with axonal neuropathy type 2 
spondyloepiphyseal dysplasia tarda, autosomal recessive 
sterol carrier protein 2 deficiency 
subcutaneous tissue disorder +   
Tay-Sachs disease +  
temtamy preaxial brachydactyly syndrome 
TH-deficient dopa-responsive dystonia 
thiamine-responsive megaloblastic anemia syndrome 
tremor-ataxia-central hypomyelination syndrome 
triple-A syndrome 
unknown leukodystrophy 
Usher syndrome +  
UV-sensitive syndrome +  
Vici syndrome 
vitreous syneresis +  
Warburg micro syndrome +  
Werner syndrome 
Wolcott-Rallison syndrome 
X-linked Charcot-Marie-Tooth disease type 5 
X-linked ichthyosis syndrome +  
Xeroderma pigmentosum complementation group B 
Xeroderma pigmentosum complementation group D 
Xeroderma pigmentosum complementation group F 
Xeroderma pigmentosum complementation group G 

Synonyms
Exact Synonyms: DOID:14501 ;   NCIT:C85070 ;   Orphanet:816 ;   SLS ;   Senior-Løken Syndrome ;   Sjogren-Larsson's syndrome ;   fatty acid alcohol oxidoreductase deficiency ;   http://identifiers.org/medgen/11443 ;   http://identifiers.org/mesh/D016111 ;   http://identifiers.org/snomedct/111303009
Synonyms: http://identifiers.org/meddra/10048676
Related Synonyms: FADH deficiency ;   FALDH deficiency ;   FAO deficiency ;   Sjögren-Larsson syndrome ;   fatty alcohol:NAD+ oxidoreductase deficiency ;   fatty aldehyde dehydrogenase deficiency ;   ichthyosis, spastic neurologic disorder, and oligophrenia
Alternate IDs: MONDO:0010031
Xrefs: DOID:14501 ;   GARD:7654 ;   MEDGEN:11443 ;   MESH:D016111 ;   MIM:270200 ;   MedDRA:10048676 ;   NANDO:1200620 ;   NANDO:2200994 ;   NCI:C85070 ;   NORD:1377
see_also: https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome" xsd:anyURI {source="GARD:0007654
Definition Sources: Orphanet:816

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