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Neutral Lipid Storage Disease
Neutral lipid storage disease
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Genodermatoses
(157)
4p- syndrome
Benign familial pemphigus
Congenital ichthyosiform erythroderma
Distal Arthrogryposis, Type IIA
Dyskeratosis congenita
Dyskeratosis congenita
Erythrokeratodermia variabilis
Harlequin ichthyosis
Ichthyosis
Ichthyosis hystrix
Keratosis follicularis spinulosa decalvans
Multiple sulfatase deficiency
Noonan syndrome
Pachyonychia congenita
Peeling skin syndrome
Sjogren-larsson syndrome
X-linked ichthyosis
18q deletion syndrome
Acrocephal- osyndactylia
Acrodermatitis enteropathica
Acrokeratosis verruciformis
Adams–Oliver syndrome
Adducted thumbs syndrome
Albright's hereditary osteodystrophy
Apert syndrome
Aplasia cutis congenita
Arrhythmogenic right ventricular dysplasia
Ataxia telangiectasia
Atrichia with papular lesions
Atrophodermia vermiculata
Autoimmune polyendocr- inopathy–candidiasis–ectodermal dystrophy syndrome
BIDS syndrome
Bart syndrome
Bloom syndrome
CHILD syndrome
Cardiofaci- ocutaneous syndrome
Cartilage–hair hypoplasia
Carvajal syndrome
Chondrodysplasia punctata
Cicatricial junctional epidermolysis bullosa
Clouston's hidrotic ectodermal dysplasia
Cockayne syndrome
Confluent and reticulated papillomatosis of Gougerot and Carteaud
Conradi–Hünermann syndrome
Costello syndrome
Cronkhite-Canada syndrome
Crouzon syndrome
Cutis verticis gyrata
Darier's disease
Dermatopathia pigmentosa reticularis
Disseminated superficial actinic porokeratosis
Disseminated superficial porokeratosis
Dominant dystrophic epidermolysis bullosa
Dyschromatosis universalis hereditaria
Ectodermal dysplasia
Ectodermal dysplasia with corkscrew hairs
Ectrodacty- ly-ectodermal dysplasia-cleft syndrome
Epidermolysis bullosa
Epidermolysis bullosa dystrophica
Epidermolysis bullosa herpetiformis
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex of Ogna
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolytic hyperkeratosis
Focal dermal hypoplasia
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
Follicular atrophoderma
Franceschetti–Klein syndrome
Generalized atrophic benign epidermolysis bullosa
Generalized epidermolysis bullosa simplex
Generalized trichoepithelioma
Hallermann-Streiff syndrome
Hay–Wells syndrome
Hereditary sclerosing poikiloderma
Hypohidrotic ectodermal dysplasia
IBIDS syndrome
IFAP syndrome
Ichthyosis bullosa of Siemens
Ichthyosis lamellaris
Ichthyosis linearis circumflexa
Ichthyosis vulgaris
IgA pemphigus
Incontinentia pigmenti
Incontinentia pigmenti achromians
Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa gravis
Keratitisâ- €“ichthyosis–deafness syndrome
Keratolytic winter erythema
Keratosis pilaris
Keratosis pilaris atrophicans faciei
Kindler syndrome
Klinefelter's syndrome
Klippel–Feil syndrome
LEOPARD syndrome
Lelis syndrome
Lentiginosis
Lenz–Majewski syndrome
Linear Darier disease
Linear and whorled nevoid hypermelanosis
Linear porokeratosis
Localized epidermolysis bullosa simplex
Mandibuloacral dysplasia
Marinesco–Sjögren syndrome
McCusick syndrome
Meleda disease
Mitis junctional epidermolysis bullosa
Naegeli–- Franceschetti–Jadassohn syndrome
Netherton syndrome
Neurofibromatosis
Neurofibromatosis type 3
Neurofibromatosis type 4
Neurofibromatosis type I
Odonto–T- richo–Ungual–Digital–Palmar syndrome
PIBI(D)S syndrome
POEMS syndrome
Pachydermo- periostosis
Pachyonychia congenita type I
Pachyonychia congenita type II
Papillon–Lefèvre syndrome
Pfeiffer syndrome
Pityriasis rotunda
Plaque-type porokeratosis
Polyostotic fibrous dysplasia
Popliteal pterygium syndrome
Porokeratosis
Porokeratosis palmaris et plantaris disseminata
Progeria
Progressive symmetric erythrokeratodermia
Proteus syndrome
Punctate porokeratosis
Rapp–Hodgkin syndrome
Recessive dystrophic epidermolysis bullosa
Refsum's disease
Relapsing linear acantholytic dermatosis
Restrictive dermopathy
Rhizomelic chondrodysplasia punctata
Rombo syndrome
Rothmund–Thomson syndrome
Scleroatrophic syndrome of Huriez
Tooth and nail syndrome
Transient bullous dermolysis of the newborn
Treacher Collins syndrome
Tricho–r- hino–phalangeal syndrome
Tuberous sclerosis
Turner syndrome
Ulerythema
Ulnar–mammary syndrome
Von Hippel – Lindau disease
Watson syndrome
Werner syndrome
Westerhof syndrome
Wilson–Turner syndrome
X-linked recessive chondrodysplasia punctata
XXYY syndrome
Xeroderma pigmentosum
Zimmermann–Laband syndrome
Zunich–Kaye syndrome
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Diseases and disorders
(50)
Lipid storage
Nakamura osame syndrome
Nanism due to growth hormone combined deficiency
Narrow oral fissure short stature cone shaped epiphyses
Nephronophthisis familial adult spastic quadriparesis
Nephronophthisis familial adult spastic quadriparesis
Nephropathy deafness hyperparathyroidism
Nephropathy familial with hyperuricemia
Nephrosis deafness urinary tract digital malformation
Nephrotic syndrome ocular anomalies
Neuhauser eichner opitz syndrome
Neuraminidase beta-galactosidase deficiency
Neuroaxonal dystrophy renal tubular acidosis
Neuroma biliary tract
Neuronal interstitial dysplasia
Neuropathy motor sensory type 2 deafness mental retardation
Neuropathy sensory spastic paraplegia
Neutropenia intermittent
Neutropenia monocytopenia deafness
Night blindness skeletal anomalies unusual facies
Noble bass sherman syndrome
Non-lissencephalic cortical dysplasia
Noninsulin- -dependent diabetes mellitus with deafness
Nose polyposis familial
Novak syndrome
Netherton syndrome ichthyosis
Skin diseases
N-acetyl-g- lucosamine-6-sulfate sulfatase deficiency
Ichthyosis hystrix curth macklin type
Diencephalic syndrome
5p- syndrome
ICE syndrome
Storage disease
Neuronal ceroid lipofuscinosis
Erythroderma
Skin disorder
Nail patella syndrome
Rosai-Dorfman disease
Myopathy
Dwarfism
Distal Arthrogryposis, Type IIA
Benign familial pemphigus
Multiple sulfatase deficiency
Ichthyosis
Keratosis follicularis spinulosa decalvans
Sjogren-larsson syndrome
Peeling skin syndrome
Dyskeratosis congenita
X-linked ichthyosis
Harlequin ichthyosis
Noonan syndrome
more...
Rare diseases
(9)
Lipid storage
Congenital ichthyosiform erythroderma
Ichthyosis hystrix
Multiple sulfatase deficiency
5p- syndrome
5p- syndrome
Neuronal ceroid lipofuscinosis
Dyskeratosis congenita
Harlequin ichthyosis
Nail patella syndrome
more...
Autosomal recessive disorders
Lipid storage
Congenital ichthyosiform erythroderma
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Harlequin ichthyosis
Genetic disorders
(13)
Monosomy
Hereditary disorder
Trisomy
Lipid storage
Congenital ichthyosiform erythroderma
Congenital ichthyosiform erythroderma
Ichthyosis hystrix
Multiple sulfatase deficiency
4p- syndrome
5p- syndrome
Dyskeratosis congenita
Pachyonychia congenita
Nail patella syndrome
Noonan syndrome
more...
See also
(18)
Acid lipase
Cornification
PNPLA2
Triglyceride lipase
Dentin dysplasia
Dentin dysplasia
Cgi-58
Phytanic acid
Lipids
Long chain fatty acid
Skin lesion
Epidermis (skin)
Autosomal recessive
Lipid
Skin Conditions
9P
Lysosomal
6Q
Leukocyte
more...
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