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76 Result(s)

ORPHA:445038   (Disorder)   3-methylglutaconic aciduria type 7

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Synonym(s) : 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome

ORPHA:447753   (Disorder)   Autosomal dominant spastic paraplegia type 9A

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Synonym(s) : Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

ORPHA:1366   (Disorder)   Autosomal recessive palmoplantar keratoderma and congenital alopecia

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Synonym(s) : Cataract-alopecia-sclerodactyly syndrome

ORPHA:1272   (Disorder)   Aymé-Gripp syndrome

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Synonym(s) : Brachycephaly-deafness-cataract-intellectual disability syndrome

ORPHA:1317   (Disorder)   CAMFAK syndrome

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Synonym(s) : Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome

ORPHA:162   (Disorder)   Cataract-glaucoma syndrome

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ORPHA:1375   (Disorder)   Cataract-hypertrichosis-intellectual disability syndrome

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Keyword(s) : Cataract-hypertrichosis-mental retardation syndrome

ORPHA:1381   (Disorder)   Cataract-intellectual disability-anal atresia-urinary defects syndrome

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Keyword(s) : Cataract-mental retardation-anal atresia-urinary defects syndrome

ORPHA:1387   (Disorder)   Cataract-intellectual disability-hypogonadism syndrome

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Keyword(s) : Cataract-mental retardation-hypogonadism syndrome

ORPHA:1377   (Disorder)   Cataract-microcornea syndrome

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ORPHA:98989   (Subtype of disorder)   Cerulean cataract

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Synonym(s) : Blue-dot cataract

ORPHA:98642   (Group of disorders)   Chromosomal anomaly with cataract

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ORPHA:300313   (Disorder)   Congenital cataract-hearing loss-severe developmental delay syndrome

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Synonym(s) : Congenital cataract-deafness-severe developmental delay syndrome

ORPHA:464738   (Disorder)   Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

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Keyword(s) : Congenital cataract-microcephaly-nevus flammeus simplex-severe mental retardation syndrome

ORPHA:330054   (Disorder)   Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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Synonym(s) : Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

ORPHA:98990   (Subtype of disorder)   Coralliform cataract

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ORPHA:98650   (Group of disorders)   Craniofacial anomaly with cataract

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ORPHA:98649   (Group of disorders)   Dentocutaneous disease with cataract

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ORPHA:293936   (Disorder)   EDICT syndrome

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Synonym(s) : Autosomal dominant keratoconus with early-onset anterior polar cataracts ; Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome

ORPHA:98988   (Subtype of disorder)   Early-onset anterior polar cataract

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Synonym(s) : Early-onset anterior subcapsular cataract

Keyword(s) : Congenital anterior polar cataract

ORPHA:441452   (Subtype of disorder)   Early-onset lamellar cataract

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Keyword(s) : Congenital lamellar cataract

ORPHA:91492   (Disorder)   Early-onset non-syndromic cataract

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Keyword(s) : Congenital non-syndromic cataract

ORPHA:98991   (Subtype of disorder)   Early-onset nuclear cataract

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Keyword(s) : Congenital nuclear cataract

ORPHA:98992   (Subtype of disorder)   Early-onset partial cataract

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Keyword(s) : Cataract, Hutterite type ; Congenital partial cataract ; Congenital cataract, Volkmann type

ORPHA:98993   (Subtype of disorder)   Early-onset posterior polar cataract

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Keyword(s) : Congenital posterior polar cataract

ORPHA:441447   (Subtype of disorder)   Early-onset posterior subcapsular cataract

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Keyword(s) : Congenital posterior subcapsular cataract

ORPHA:98985   (Subtype of disorder)   Early-onset sutural cataract

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Synonym(s) : Early-onset cataract with Y-shaped suture opacities

Keyword(s) : Congenital sutural cataract

ORPHA:98995   (Subtype of disorder)   Early-onset zonular cataract

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Keyword(s) : Congenital zonular cataract

ORPHA:2119   (Disorder)   HEC syndrome

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Synonym(s) : Hydrocephalus-endocardial fibroelastosis-cataract syndrome

ORPHA:163   (Disorder)   Hereditary hyperferritinemia-cataract syndrome

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Synonym(s) : Hereditary hyperferritinemia with congenital cataracts

ORPHA:3042   (Disorder)   Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

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Keyword(s) : Mental retardation-cataracts-calcified pinnae-myopathy syndrome

ORPHA:171860   (Disorder)   Intellectual disability-cataracts-kyphosis syndrome

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Keyword(s) : Mental retardation-cataracts-kyphosis syndrome

ORPHA:168972   (Disorder)   Kahrizi syndrome

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Synonym(s) : Intellectual disability-cataract-coloboma-kyphosis syndrome

ORPHA:263347   (Disorder)   MRCS syndrome

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Synonym(s) : Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome

ORPHA:98644   (Group of disorders)   Metabolic disease with cataract

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ORPHA:488168   (Disorder)   Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

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Keyword(s) : Microcephaly-congenital cataract-ichtyosiform dermatitis syndrome

ORPHA:98648   (Group of disorders)   Musculoskeletal disease with cataract

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ORPHA:2663   (Disorder)   Nathalie syndrome

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Synonym(s) : Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

ORPHA:2712   (Disorder)   Oculofaciocardiodental syndrome

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Synonym(s) : Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

ORPHA:98984   (Subtype of disorder)   Pulverulent cataract

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Synonym(s) : Dusty cataract ; Coppock-like cataract

ORPHA:98640   (Group of disorders)   Rare disorder with lens opacification

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Synonym(s) : Rare cataract

ORPHA:98646   (Group of disorders)   Renal disease with cataract

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ORPHA:436245   (Disorder)   Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

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Synonym(s) : Retinal dystrophy-juvenile cataract-short stature syndrome

Keyword(s) : Retinitis pigmentosa-juvenile cataract-short stature-mental retardation syndrome

ORPHA:438178   (Disorder)   Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency

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Synonym(s) : Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency ; Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder

Keyword(s) : Severe mental retardation-epilepsy-cataract syndrome due to FAR1 deficiency

ORPHA:163649   (Disorder)   Spondyloepiphyseal dysplasia, Nishimura type

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Synonym(s) : Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome

ORPHA:98641   (Group of disorders)   Syndromic cataract

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ORPHA:522548   (Group of disorders)   Syndromic genetic cataract

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ORPHA:98994   (Subtype of disorder)   Total early-onset cataract

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Keyword(s) : Total congenital cataract

ORPHA:1493   (Disorder)   Vici syndrome

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Synonym(s) : Corpus callosum agenesis-cataract-immunodeficiency syndrome