List of rare eye diseases

• Abetalipoproteinemia

• Ablepharon macrostomia syndrome

• Aceruloplasminemia

• Achromatopsia 2

• Achromatopsia 3

• Acute intermittent porphyria

• Acute posterior multifocal placoid pigment epitheliopathy

• Acute zonal occult outer retinopathy

• ADULT syndrome

• Adult-onset vitelliform macular dystrophy

• Aicardi syndrome

• Aicardi-Goutieres syndrome

• Aland island eye disease

• Albinism ocular late onset sensorineural deafness

• Alexander disease

• Alkaptonuria

• Alpha-mannosidosis

• Alport syndrome

• Alström syndrome

• Ambras syndrome

• Amyloidosis corneal

• Aniridia

• Aniridia absent patella

• Aniridia renal agenesis psychomotor retardation

• Ankyloblepharon filiforme imperforate anus

• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

• Anterior ischemic optic neuropathy

• Anterior segment dysgenesis

• Anterior uveitis

• Apert syndrome

• Aromatic L-amino acid decarboxylase deficiency

• Arthrogryposis renal dysfunction cholestasis syndrome

• Ataxia telangiectasia

• Ataxia with oculomotor apraxia type 1

• Ataxia with Oculomotor Apraxia Type 2

• Ataxia with oculomotor apraxia type 4

• Ataxia with vitamin E deficiency

• Ausems Wittebol-Post Hennekam syndrome

• Autosomal dominant leukodystrophy with autonomic disease

• Autosomal dominant optic atrophy and cataract

• Autosomal dominant optic atrophy plus syndrome

• Autosomal dominant vitreoretinochoroidopathy

• Autosomal recessive Alport syndrome

• Autosomal recessive bestrophinopathy

• Autosomal recessive primary microcephaly

• Axenfeld-Rieger syndrome

• Ayazi syndrome

• Barber Say syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome 1

• Bardet-Biedl syndrome 10

• Bardet-Biedl syndrome 11

• Bardet-Biedl syndrome 12

• Bardet-Biedl syndrome 2

• Barth syndrome

• Bazex-Dupre-Christol syndrome

• Behçet disease

• Behr syndrome

• Best vitelliform macular dystrophy

• Bietti crystalline corneoretinal dystrophy

• Birdshot chorioretinopathy

• Blau syndrome

• Blepharo-cheilo-odontic syndrome

• Blepharophimosis with ptosis, syndactyly, and short stature

• Blepharoptosis myopia ectopia lentis

• Bloom syndrome

• Blue cone monochromatism

• Borjeson-Forssman-Lehmann syndrome

• Bradyopsia

• Brittle cornea syndrome

• Brown syndrome

• CADASIL

• Carney complex

• Cat eye syndrome

• Cataract congenital Volkmann type

• Cataract Hutterite type

• Cataract microcornea syndrome

• Cataract, posterior polar, 1

• Cataract, posterior polar, 3

• Cataract, posterior polar, 4

• Cataract, posterior polar, 5

• Cataract, total congenital

• Centronuclear myopathy

• Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss

• Cerebro-oculo-facio-skeletal syndrome

• Cerebrotendinous xanthomatosis

• Cerulean cataract

• Chanarin-Dorfman syndrome

• Chandler's syndrome

• Char syndrome

• CHARGE syndrome

• Charles Bonnet syndrome

• Chediak-Higashi syndrome

• Chorioretinitis

• Choroidal dystrophy central areolar

• Choroideremia

• Chromosome 17q11.2 deletion syndrome

• Chromosome 18p deletion

• Chromosome 21q deletion

• Chromosome 2q24 microdeletion syndrome

• Chromosome 5p duplication

• Chronic granulomatous disease

• Chronic progressive external ophthalmoplegia

• Coats disease

• Cockayne syndrome type I

• Cockayne syndrome type II

• Cockayne syndrome type III

• Cogan-Reese syndrome

• Cohen syndrome

• Coloboma of macula

• Coloboma of macula with type B brachydactyly

• Cone dystrophy

• Cone dystrophy X-linked with tapetal-like sheen

• Cone-rod dystrophy

• Cone-rod dystrophy 1

• Cone-rod dystrophy 2

• Cone-rod dystrophy 3

• Cone-rod dystrophy 5

• Cone-rod dystrophy 6

• Cone-rod dystrophy X-linked 1

• Cone-rod dystrophy X-linked 2

• Cone-rod dystrophy X-linked 3

• Congenital cystic eye

• Congenital disorders of glycosylation

• Congenital fibrosis of extraocular muscles

• Congenital microcoria

• Congenital myasthenic syndrome with episodic apnea

• Congenital primary aphakia

• Corneal dystrophy and perceptive deafness

• Corneal dystrophy Avellino type

• Corneal dystrophy crystalline of Schnyder

• Corneal dystrophy of Bowman layer type 1

• Corneal dystrophy Thiel Behnke type

• Corneal endothelial dystrophy type 2

• Corneal hypesthesia, familial

• Cornelia de Lange syndrome

• Corneodermatoosseous syndrome

• Cortical blindness-intellectual disability-polydactyly syndrome

• Cri du chat syndrome

• Crouzon syndrome

• Cystinosis

• Deafness and myopia syndrome

• Dentatorubral-pallidoluysian atrophy

• Dermochondrocorneal dystrophy of François

• Dermoids of cornea

• Developmental prosopagnosia

• Dopamine beta hydroxylase deficiency

• Doyne honeycomb retinal dystrophy

• Duane syndrome

• Dubowitz syndrome

• Duchenne muscular dystrophy

• Dyskeratosis congenita

• Dyskeratosis congenita autosomal dominant

• Dyskeratosis congenita autosomal recessive

• Dyskeratosis congenita X-linked

• Dyssegmental dysplasia and glaucoma

• Eales disease

• Early-onset anterior polar cataract

• Early-onset zonular cataract

• Ectodermal dysplasia skin fragility syndrome

• Ectopia lentis, isolated autosomal recessive

• EEC syndrome

• EEM syndrome

• Enthesitis-related juvenile idiopathic arthritis

• Epidermolysa bullosa simplex with muscular dystrophy

• Epithelial basement membrane corneal dystrophy

• Fabry disease

• Familial amyloidosis, Finnish type

• Familial congenital palsy of trochlear nerve

• Familial cylindromatosis

• Familial dysautonomia

• Familial exudative vitreoretinopathy

• Familial LCAT deficiency

• Familial visceral myopathy with external ophthalmoplegia

• Farber disease

• Fatty acid hydroxylase-associated neurodegeneration

• Fine-Lubinsky syndrome

• Fish-eye disease

• Focal dermal hypoplasia

• Fragile X syndrome

• Fraser syndrome

• Friedreich ataxia

• Frontofacionasal dysplasia

• Fuchs endothelial corneal dystrophy - Not a rare disease

• Fuchs heterochromic iridocyclitis

• Fukuyama type muscular dystrophy

• Fundus dystrophy, pseudoinflammatory, of Sorsby

• Galactokinase deficiency

• Galactosialidosis

• GAPO syndrome

• Gardner syndrome

• Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease

• Gaucher disease type 1

• Gaucher disease type 2

• Gaucher disease type 3

• Gillespie syndrome

• Glaucoma sleep apnea

• Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome

• GM1 gangliosidosis type 1

• GM1 gangliosidosis type 2

• GM1 gangliosidosis type 3

• GMS syndrome

• Goldberg-Shprintzen megacolon syndrome

• Goldenhar disease

• Goldmann-Favre syndrome

• Graham-Cox syndrome

• Griscelli syndrome type 1

• Griscelli syndrome type 2

• Griscelli syndrome type 3

• Groenouw type I corneal dystrophy

• Gyrate atrophy of choroid and retina

• Hallermann-Streiff syndrome

• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

• Hereditary hemorrhagic telangiectasia

• Hereditary hemorrhagic telangiectasia type 2

• Hereditary hemorrhagic telangiectasia type 3

• Hereditary hemorrhagic telangiectasia type 4

• Hereditary vascular retinopathy

• Hermansky Pudlak syndrome 2

• Homocystinuria due to CBS deficiency

• Horizontal gaze palsy with progressive scoliosis

• Hurler syndrome

• Hurler–Scheie syndrome

• Hyperferritinemia cataract syndrome

• Hypohidrotic ectodermal dysplasia autosomal recessive

• Hypomelanosis of Ito

• Hypomyelination and congenital cataract

• Hypoparathyroidism familial isolated

• Ichthyosis lamellar 1

• Ichthyosis lamellar, autosomal dominant

• Incontinentia pigmenti

• Infantile cerebellar retinal degeneration

• Intraocular melanoma

• IRVAN syndrome

• Isolated congenital megalocornea

• Isolated ectopia lentis

• Jacobsen syndrome

• Joubert syndrome with oculorenal anomalies

• Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa

• Juvenile polyposis syndrome

• Juvenile retinoschisis

• Kabuki syndrome

• Kaufman oculocerebrofacial syndrome

• Kearns-Sayre syndrome

• Keratitis, hereditary

• Keratoconus

• Keratosis follicularis spinulosa decalvans

• KID syndrome

• Knobloch syndrome

• Krabbe disease

• Kyphoscoliotic Ehlers-Danlos syndrome

• Lacrimo-auriculo-dento-digital syndrome

• Lamellar ichthyosis

• Landau-Kleffner syndrome

• Laryngoonychocutaneous syndrome - See Epidermolysis bullosa

• Late-onset retinal degeneration

• Lattice corneal dystrophy type 1

• Lattice corneal dystrophy type 3A

• Laurence-Moon syndrome

• LCHAD deficiency

• Leber congenital amaurosis

• Leber congenital amaurosis 1 - See Leber congenital amaurosis

• Leber congenital amaurosis 10 - See Leber congenital amaurosis

• Leber congenital amaurosis 11 - See Leber congenital amaurosis

• Leber congenital amaurosis 12 - See Leber congenital amaurosis

• Leber congenital amaurosis 13 - See Leber congenital amaurosis

• Leber congenital amaurosis 14 - See Leber congenital amaurosis

• Leber congenital amaurosis 15 - See Leber congenital amaurosis

• Leber congenital amaurosis 16 - See Leber congenital amaurosis

• Leber congenital amaurosis 2 - See Leber congenital amaurosis

• Leber congenital amaurosis 3 - See Leber congenital amaurosis

• Leber congenital amaurosis 4 - See Leber congenital amaurosis

• Leber congenital amaurosis 6 - See Leber congenital amaurosis

• Leber congenital amaurosis 9 - See Leber congenital amaurosis

• Leber hereditary optic neuropathy

• Leber hereditary optic neuropathy with dystonia

• Leigh syndrome, French Canadian type

• Lenz microphthalmia syndrome

• LEOPARD syndrome

• Leukodystrophy

• Ligneous conjunctivitis

• Limb-mammary syndrome

• Linear nevus sebaceous syndrome

• Lowe oculocerebrorenal syndrome

• Lowry Maclean syndrome

• Lubinsky syndrome

• Lymphedema-distichiasis syndrome

• Macrosomia with lethal microphthalmia

• Macular dystrophy, corneal type 1

• Macular telangiectasia type 2 - Not a rare disease

• Marfan syndrome

• Marinesco-Sjogren syndrome

• Marshall syndrome

• Martsolf syndrome

• Maternally inherited diabetes and deafness

• Meckel syndrome

• Meesmann corneal dystrophy

• Megalocornea - spherophakia - secondary glaucoma

• Megalocornea-intellectual disability syndrome

• Melnick-Needles syndrome

• Menkes disease

• Methylmalonic acidemia with homocystinuria type cblC - See Methylmalonic acidemia with homocystinuria

• Mevalonic aciduria

• Micro syndrome

• Microcephaly microcornea syndrome Seemanova type

• Microcornea posterior megalolenticonus persistent fetal vasculature coloboma

• Microcornea corectopia macular hypoplasia

• Microphthalmia syndromic 10

• Microphthalmia syndromic 4

• Microphthalmia syndromic 5

• Microphthalmia syndromic 6

• Microphthalmia syndromic 8

• Microphthalmia syndromic 9

• Microphthalmia with linear skin defects syndrome

• Microspherophakia with hernia

• Microtia eye coloboma and imperforation of the nasolacrimal duct

• Miller syndrome

• Milroy disease

• Mitochondrial DNA-associated Leigh syndrome

• Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

• Mitochondrial Membrane Protein-Associated Neurodegeneration

• Mitochondrial neurogastrointestinal encephalopathy syndrome

• Moebius syndrome

• Mohr-Tranebjaerg syndrome

• Molybdenum cofactor deficiency

• Morning glory syndrome

• Mousa Al din Al Nassar syndrome

• Mucolipidosis type 4

• Mucopolysaccharidosis type III

• Mucopolysaccharidosis type IIIA

• Mucopolysaccharidosis type IIIB

• Mucopolysaccharidosis type IIIC

• Mucopolysaccharidosis type IIID

• Mucopolysaccharidosis type IV

• Mucopolysaccharidosis type IVA

• Mucopolysaccharidosis type VII

• Muir-Torre syndrome

• Multiple familial trichoepithelioma

• Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma

• Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma

• Muscle eye brain disease

• Myoclonic epilepsy with ragged red fibers

• Myotonic dystrophy type 1

• Myotonic dystrophy type 2

• Nager acrofacial dysostosis

• Nail-patella syndrome

• Nance-Horan syndrome

• Nathalie syndrome

• Neonatal adrenoleukodystrophy

• Neonatal Onset Multisystem Inflammatory disease

• Neonatal progeroid syndrome

• Netherton syndrome

• Neurofibromatosis type 2

• Neuromyelitis optica spectrum disorder

• Neuronal ceroid lipofuscinosis

• Neuronal ceroid lipofuscinosis 10

• Neuronal ceroid lipofuscinosis 5

• Neuronal ceroid lipofuscinosis 6

• Neuronal ceroid lipofuscinosis 7

• Neuropathy ataxia retinitis pigmentosa syndrome

• Nevoid basal cell carcinoma syndrome

• Niemann-Pick disease type A

• Niemann-Pick disease type C1

• Niemann-Pick disease type C2

• Noonan syndrome

• Noonan syndrome 1 - See Noonan syndrome

• Noonan syndrome 2 - See Noonan syndrome

• Noonan syndrome 3 - See Noonan syndrome

• Noonan syndrome 4 - See Noonan syndrome

• Noonan syndrome 5 - See Noonan syndrome

• Noonan syndrome 6 - See Noonan syndrome

• Norrie disease

• North Carolina macular dystrophy

• Nystagmus 1, congenital, X- linked

• Nystagmus 2, congenital, autosomal dominant

• O Donnell Pappas syndrome

• Ocular albinism type 1

• Ocular neuromyotonia

• Oculoauriculofrontonasal syndrome

• Oculocerebral syndrome with hypopigmentation

• Oculocutaneous albinism type 1

• Oculocutaneous albinism type 1B

• Oculocutaneous albinism type 2

• Oculocutaneous albinism type 3

• Oculodentodigital dysplasia

• Oculofaciocardiodental syndrome

• Oculomotor apraxia Cogan type

• Oculopharyngeal muscular dystrophy

• Oculopharyngodistal myopathy

• Oguchi disease

• OPA3 defect

• Opsoclonus-myoclonus syndrome

• Optic atrophy 1

• Optic atrophy 2

• Optic atrophy 5

• Optic atrophy 6

• Optic neuritis

• Orbital varix

• Osteopetrosis autosomal dominant type 2

• Osteopetrosis autosomal recessive 4

• Osteoporosis-pseudoglioma syndrome

• Panuveitis

• Parkinson disease type 9

• Partington syndrome

• Patterned dystrophy of retinal pigment epithelium

• Pearson syndrome

• PEHO syndrome

• Pelizaeus-Merzbacher disease

• Peters anomaly

• Peters plus syndrome

• Peutz-Jeghers syndrome

• PHACE syndrome

• Piebaldism

• Pierre Robin sequence

• Pillay syndrome

• Pontocerebellar hypoplasia type 3

• Popliteal pterygium syndrome

• Porphyria cutanea tarda

• Posterior uveitis

• Primary open angle glaucoma juvenile onset 1

• Progeria

• Progressive bifocal chorioretinal atrophy

• Proximal chromosome 18q deletion syndrome

• Pseudohypoparathyroidism type 1A

• Pseudohypoparathyroidism type 1C

• Pseudopseudohypoparathyroidism

• Pseudoxanthoma elasticum

• Pterygium of the conjunctiva and cornea

• Ptosis strabismus ectopic pupils

• Punctate inner choroidopathy

• Recessive dystrophic epidermolysis bullosa-generalized other

• Reese retinal dysplasia

• Refsum disease

• Refsum disease, infantile form

• Renal coloboma syndrome

• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

• Retinal cone dystrophy 1

• Retinal cone dystrophy 2

• Retinal cone dystrophy 3A

• Retinal cone dystrophy 3B

• Retinal cone dystrophy 4

• Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma

• Retinal vasculopathy with cerebral leukodystrophy

• Retinitis pigmentosa

• Retinitis pigmentosa 1 - See Retinitis pigmentosa

• Retinitis Pigmentosa 11 - See Retinitis pigmentosa

• Retinitis pigmentosa 12 - See Retinitis pigmentosa

• Retinitis Pigmentosa 13 - See Retinitis pigmentosa

• Retinitis Pigmentosa 14 - See Retinitis pigmentosa

• Retinitis Pigmentosa 15 - See Retinitis pigmentosa

• Retinitis Pigmentosa 17 - See Retinitis pigmentosa

• Retinitis Pigmentosa 18 - See Retinitis pigmentosa

• Retinitis Pigmentosa 19 - See Retinitis pigmentosa

• Retinitis Pigmentosa 20 - See Retinitis pigmentosa

• Retinitis Pigmentosa 22 - See Retinitis pigmentosa

• Retinitis Pigmentosa 23 - See Retinitis pigmentosa

• Retinitis Pigmentosa 24 - See Retinitis pigmentosa

• Retinitis Pigmentosa 25 - See Retinitis pigmentosa

• Retinitis Pigmentosa 26 - See Retinitis pigmentosa

• Retinitis Pigmentosa 28 - See Retinitis pigmentosa

• Retinitis pigmentosa 29 - See Retinitis pigmentosa

• Retinitis pigmentosa 3 - See Retinitis pigmentosa

• Retinitis Pigmentosa 30 - See Retinitis pigmentosa

• Retinitis Pigmentosa 31 - See Retinitis pigmentosa

• Retinitis Pigmentosa 32 - See Retinitis pigmentosa

• Retinitis Pigmentosa 33 - See Retinitis pigmentosa

• Retinitis Pigmentosa 34 - See Retinitis pigmentosa

• Retinitis Pigmentosa 35 - See Retinitis pigmentosa

• Retinitis Pigmentosa 36 - See Retinitis pigmentosa

• Retinitis Pigmentosa 4 - See Retinitis pigmentosa

• Retinitis Pigmentosa 41 - See Retinitis pigmentosa

• Retinitis Pigmentosa 6 - See Retinitis pigmentosa

• Retinitis Pigmentosa 7 - See Retinitis pigmentosa

• Retinitis Pigmentosa 9 - See Retinitis pigmentosa

• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

• Retinopathy of prematurity

• Revesz syndrome

• Rhizomelic chondrodysplasia punctata type 1

• RHYNS syndrome

• Ring dermoid of cornea

• Roberts syndrome

• Rutherfurd syndrome

• Saethre-Chotzen syndrome

• Sandhoff disease

• Sarcoidosis - Not a rare disease

• Scheie syndrome

• Schimke immunoosseous dysplasia

• Schwartz Jampel syndrome

• Sengers syndrome

• Senior Loken Syndrome

• Septo-optic dysplasia spectrum

• Serpiginous choroiditis

• Severe generalized recessive dystrophic epidermolysis bullosa

• Severe X-linked intellectual disability, Gustavson type

• SHORT syndrome

• Sialidosis type I

• Sialidosis, type II

• Sjogren-Larsson syndrome

• Slow-channel congenital myasthenic syndrome

• Smith-Lemli-Opitz syndrome

• Snowflake vitreoretinal degeneration

• Sotos syndrome

• Spastic paraplegia 2

• Spastic paraplegia 7

• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

• Spinocerebellar ataxia 7

• Spinocerebellar ataxia autosomal recessive 5

• Spinocerebellar degeneration and corneal dystrophy

• Spondyloepiphyseal dysplasia

• SRD5A3-CDG (CDG-Iq)

• Stargardt disease

• Sturge-Weber syndrome

• Subaortic stenosis short stature syndrome

• Superior limbic keratoconjunctivitis

• Syndromic microphthalmia, type 3

• Tangier disease

• Tay-Sachs disease

• Tietz syndrome

• Tolosa Hunt syndrome

• Trachoma

• Treacher Collins syndrome

• Triple A syndrome

• Triploidy

• Trisomy 13

• Trisomy 18

• Tuberous sclerosis complex

• Tubulointerstitial nephritis and uveitis

• Tucker syndrome

• Tyrosinemia type 2

• Usher syndrome

• Usher syndrome type 2A

• Usher syndrome type 3A

• Usher syndrome, type 1

• Usher syndrome, type 1B - See Usher syndrome

• Usher syndrome, type 1C - See Usher syndrome

• Usher syndrome, type 1D - See Usher syndrome

• Usher syndrome, type 1E - See Usher syndrome

• Usher syndrome, type 1F - See Usher syndrome

• Usher syndrome, type 2B - See Usher syndrome

• Usher syndrome, type 2C - See Usher syndrome

• Uveal diseases

• Verloes Van Maldergem Marneffe syndrome

• Vernal keratoconjunctivitis

• Vici syndrome

• Visual snow syndrome

• Vogt-Koyanagi-Harada disease

• Von Hippel-Lindau disease

• Waardenburg syndrome type 1

• Waardenburg syndrome type 2

• Waardenburg syndrome type 3

• Waardenburg syndrome type 4

• Wagner syndrome

• WAGR syndrome

• Walker-Warburg syndrome

• Weill-Marchesani syndrome

• Werner syndrome

• Williams syndrome

• Wilson disease

• Wolf-Hirschhorn syndrome

• Wolfram syndrome

• Wrinkly skin syndrome

• Wyburn-Mason syndrome

• X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease

• X-linked congenital generalized hypertrichosis

• X-linked congenital stationary night blindness

• X-linked dominant chondrodysplasia punctata 2

• X-linked hypohidrotic ectodermal dysplasia

• X-linked ichthyosis

• X-linked myotubular myopathy

• [[Zellweger syndrome

List of rare Immune system diseases

• 22q11.2 deletion syndrome
• Adenosine Deaminase 2 deficiency
• Adenosine deaminase deficiency
• Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• Agammaglobulinemia, non-Bruton type
• Aicardi-Goutieres syndrome
• Aicardi-Goutieres syndrome type 5
• Allergic bronchopulmonary aspergillosis
• Alopecia areata - Not a rare disease.
• Alopecia totalis
• Alopecia universalis
• Amyloidosis AA
• Amyloidosis familial visceral
• Ataxia telangiectasia
• Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune polyglandular syndrome type 1
• Autosomal dominant hyper IgE syndrome
• Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive hyper IgE syndrome
• Bare lymphocyte syndrome 2
• Barth syndrome
• Blau syndrome
• Bloom syndrome
• Bronchiolitis obliterans
• C1q deficiency
• Candidiasis familial chronic mucocutaneous, autosomal recessive
• Cartilage-hair hypoplasia
• CHARGE syndrome
• Chediak-Higashi syndrome
• Cherubism
• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
• Chronic graft versus host disease
• Chronic granulomatous disease
• Cohen syndrome
• Combined immunodeficiency with skin granulomas
• Common variable immunodeficiency
• Complement component 2 deficiency
• Complement component 8 deficiency type 1
• Complement component 8 deficiency type 2
• Congenital pulmonary alveolar proteinosis
• Cryoglobulinemia
• Cutaneous mastocytoma
• Cyclic neutropenia
• Deficiency of interleukin-1 receptor antagonist
• Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Dyskeratosis congenita
• Dyskeratosis congenita autosomal dominant
• Dyskeratosis congenita autosomal recessive
• Dyskeratosis congenita X-linked
• Epidermodysplasia verruciformis
• Familial amyloidosis, Finnish type
• Familial cold autoinflammatory syndrome
• Familial Mediterranean fever
• Familial mixed cryoglobulinemia
• Familiar chronic mucocutaneous candidiasis - Not a rare disease.
• Felty's syndrome
• Glycogen storage disease type 1B
• Griscelli syndrome type 2
• Hashimoto encephalopathy
• Hashimoto's syndrome - Not a rare disease.
• Hemophagocytic lymphohistiocytosis
• Hennekam syndrome
• Hepatic venoocclusive disease with immunodeficiency
• Hereditary folate malabsorption
• Hermansky Pudlak syndrome 2
• Herpes simplex encephalitis
• Hoyeraal Hreidarsson syndrome
• Hyper IgE syndrome
• Hyper-IgD syndrome
• ICF syndrome
• Idiopathic acute eosinophilic pneumonia
• Idiopathic CD4 positive T-lymphocytopenia
• IL12RB1 deficiency
• Immune defect due to absence of thymus
• Immune dysfunction with T-cell inactivation due to calcium entry defect 1
• Immune dysfunction with T-cell inactivation due to calcium entry defect 2
• Immunodeficiency with hyper IgM type 1
• Immunodeficiency with hyper IgM type 2
• Immunodeficiency with hyper IgM type 3
• Immunodeficiency with hyper IgM type 4
• Immunodeficiency with hyper IgM type 5
• Immunodeficiency with thymoma
• Immunodeficiency without anhidrotic ectodermal dysplasia
• Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Immunoglobulin A deficiency 2
• Intestinal atresia multiple
• IRAK-4 deficiency
• Isolated growth hormone deficiency type 3
• Kawasaki disease
• Large granular lymphocyte leukemia
• Leukocyte adhesion deficiency type 1
• LRBA deficiency
• Lupus - Not a rare disease.
• Lymphocytic hypophysitis
• Majeed syndrome
• Melkersson-Rosenthal syndrome
• MHC class 1 deficiency
• Muckle-Wells syndrome
• Multifocal fibrosclerosis
• Multiple sclerosis - Not a rare disease.
• MYD88 deficiency
• Neonatal Onset Multisystem Inflammatory disease
• Neonatal systemic lupus erythematosus
• Netherton syndrome
• Neutrophil-specific granule deficiency
• Nijmegen breakage syndrome
• Omenn syndrome
• Osteopetrosis autosomal recessive 7
• Palindromic rheumatism
• Papillon Lefevre syndrome
• Partial androgen insensitivity syndrome
• PASLI disease
• Pearson syndrome
• Pediatric multiple sclerosis
• Periodic fever, aphthous stomatitis, pharyngitis and adenitis
• PGM3-CDG
• Poikiloderma with neutropenia
• Pruritic urticarial papules plaques of pregnancy
• Purine nucleoside phosphorylase deficiency
• Pyogenic arthritis, pyoderma gangrenosum and acne
• Relapsing polychondritis
• Reticular dysgenesis
• Sarcoidosis - Not a rare disease.
• Say Barber Miller syndrome
• Schimke immunoosseous dysplasia
• Schnitzler syndrome
• Selective IgA deficiency - Not a rare disease.
• Selective IgM deficiency
• Severe combined immunodeficiency
• Severe combined immunodeficiency due to complete RAG1/2 deficiency
• Severe combined immunodeficiency with sensitivity to ionizing radiation
• Severe combined immunodeficiency, atypical
• Severe congenital neutropenia autosomal recessive 3
• Severe congenital neutropenia X-linked
• Short-limb skeletal dysplasia with severe combined immunodeficiency
• Shwachman-Diamond syndrome
• Singleton-Merten syndrome
• SLC35C1-CDG (CDG-IIc)
• Specific antibody deficiency
• Spondyloenchondrodysplasia
• Stevens-Johnson syndrome/toxic epidermal necrolysis
• T-cell immunodeficiency, congenital alopecia and nail dystrophy
• TARP syndrome
• Trichohepatoenteric syndrome
• Tumor necrosis factor receptor-associated periodic syndrome
• Twin to twin transfusion syndrome
• Vici syndrome
• WHIM syndrome
• Wiskott Aldrich syndrome
• Woods Black Norbury syndrome
• X-linked agammaglobulinemia
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• X-linked lymphoproliferative syndrome
• X-linked lymphoproliferative syndrome 1
• X-linked lymphoproliferative syndrome 2
• X-linked severe combined immunodeficiency
• ZAP-70 deficiency

NIH genetic and rare disease info

• NIH info on List of rare eye diseases

List of rare eye diseases is a rare disease.