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Term:
Stickler Syndrome, Type I, Nonsyndromic Ocular
(DOID:9006763)
Annotations:
Rat: (1)
Mouse: (1)
Human: (1)
Chinchilla: (1)
Bonobo: (1)
Dog: (1)
Squirrel: (1)
Pig: (1)
Parent Terms
Term With Siblings
Child Terms
Hereditary Eye Diseases
+
achromatopsia 4
Achromatopsia 5
Acrootoocular Syndrome
Aicardi syndrome
Alacrima
+
Albinism
+
aniridia
+
ataxia with oculomotor apraxia type 3
Ataxia with Oculomotor Apraxia Type 4
Ataxia-Microcephaly-Cataract Syndrome
basal laminar drusen
bestrophinopathy
Bothnia retinal dystrophy
bradyopsia
cataract 17 multiple types
cataract 22 multiple types
cataract 35
Cataract, Floriform
Cataract, Pulverulent
Cavitary Optic Disc Anomalies
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
Choroideremia
+
cone-rod dystrophy
+
Congenital Alacrima
+
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
+
Duane retraction syndrome
+
enhanced S-cone syndrome
exudative vitreoretinopathy
+
familial benign fleck retina
Foveal Hypoplasia
+
Foveal Hypoplasia with Anterior Segment Anomalies
Glaucoma 1, Open Angle, P
Graves ophthalmopathy
Grouped Pigmentation of the Macula
gyrate atrophy
+
hereditary night blindness
+
Hereditary Optic Atrophies
+
hereditary retinal dystrophy
+
high hyperopia
Histiocytic Dermatoarthritis
Iris Pigment Epithelium Anomalies
Joubert syndrome 8
Leber congenital amaurosis
+
megalocornea
+
Microcephaly and Chorioretinopathy
+
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
Peripapillary Atrophy, Beta Type
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
pigmented paravenous chorioretinal atrophy
PORETTI-BOLTSHAUSER SYNDROME
primary congenital glaucoma
+
pseudopapilledema
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
Spondyloocular Syndrome, Autosomal Recessive
Stickler Syndrome, Type I, Nonsyndromic Ocular
Vascular Hyalinosis
vitelliform macular dystrophy
+
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walker-Warburg syndrome
+
Weill-Marchesani syndrome
+
X-Linked Macular Dystrophy
+
Synonyms
Exact Synonyms:
Stickler Syndrome type I, predominantly ocular ; atypical Stickler Syndrome
Narrow Synonyms:
DRRD ; rhegmatogenous retinal detachment, autosomal dominant
Primary IDs:
MESH:C563709
Alternate IDs:
OMIM:609508
; RDO:0012898