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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
arthritis +     
Genetic Skin Diseases +     
Hereditary Eye Diseases +     
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Actinic Prurigo  
adermatoglyphia  
Aicardi syndrome  
Alacrima +   
Albinism +   
aniridia +   
Annular Erythema 
arterial tortuosity syndrome  
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
ataxia-oculomotor apraxia type 4  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
autoimmune interstitial lung, joint, and kidney disease  
Autoinflammation with Arthritis and Dyskeratosis  
autosomal recessive congenital ichthyosis +   
basal laminar drusen  
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
bestrophinopathy  
Blau syndrome  
Bloch-Sulzberger syndrome +   
Bothnia retinal dystrophy  
bradyopsia +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
cherubism +   
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
chondrocalcinosis +   
Choroideremia +   
cone-rod dystrophy +   
Congenital Alacrima +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital fibrosis of the extraocular muscles 5  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Defect in Hyaluronan Metabolism 
Dowling-Degos disease +   
Duane retraction syndrome +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
enhanced S-cone syndrome  
epidermolysis bullosa +   
epidermolytic hyperkeratosis +   
erythrokeratodermia variabilis +   
Experimental Arthritis  
exudative vitreoretinopathy +   
familial benign fleck retina  
Familial Reactive Perforating Collagenosis 
Floriform Cataract 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
geroderma osteodysplasticum  
Glaucoma 1, Open Angle, P  
gout +   
Graves ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
Hereditary Sclerosing Poikiloderma +   
High Hyperopia  
Histiocytic Dermatoarthritis 
hyaline fibromatosis syndrome  
ichthyosis vulgaris +   
Iris Pigment Epithelium Anomalies 
Isolated Osteopoikilosis 
Joubert syndrome 8  
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leber congenital amaurosis +   
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
megalocornea +   
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly and Chorioretinopathy +   
monilethrix +   
Muir-Torre syndrome  
multicentric reticulohistiocytosis 
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Negative Rheumatoid Factor Polyarthritis 
Oculotrichodysplasia 
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
orofaciodigital syndrome IX  
osteoarthritis +   
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
periarthritis 
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
plasminogen deficiency type I  
poikiloderma with neutropenia  
PORETTI-BOLTSHAUSER SYNDROME  
porokeratosis +   
primary congenital glaucoma +   
primary cutaneous amyloidosis +   
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
pseudopapilledema 
pseudoxanthoma elasticum +   
psoriatic arthritis  
Radial Drusen, Autosomal Dominant  
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe +   
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
rheumatic fever +   
rheumatoid arthritis +   
Rothmund-Thomson syndrome +   
Sacroiliac Arthritis  
Sacroiliitis  
septic arthritis +   
Sjogren-Larsson syndrome +   
spinocerebellar ataxia type 34  
Spondylarthritis +   
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
stiff skin syndrome  
Storm Syndrome 
transient arthritis +  
trichothiodystrophy +   
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel Syndrome, Variant Form  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
white sponge nevus +   
X-linked ichthyosis +   
X-Linked Macular Dystrophy +   
X-linked reticulate pigmentary disorder  
xeroderma pigmentosum +   

Synonyms
Primary IDs: MESH:C564183
Alternate IDs: OMIM:142730

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