Cataract

Symptom Information:

Symptom ID: HPO:0000518
Synonyms:
Cataracts [HPO:0000518]
Lens opacities [HPO:0000518]
Lens opacity [HPO:0000518]
Bilateral cataracts (disorder) [Orphanet:4700]
Cataract form (observable entity) [Orphanet:4700]
Cataract (morphologic abnormality) [Orphanet:4700]
On examination - cataract (finding) [Orphanet:4700]
Cataract (disorder) [Orphanet:4700]
cataract on exam (physical finding) [Orphanet:4700]
Cataract [Orphanet:4700]
Cataract [OMIM:Cataract]
Cataracts [OMIM:Cataracts]
Lens opacities [OMIM:Lens opacities]
cataract [OMIM:cataract]
Cataract/lens opacification [Orphanet:4700]
Cataract bilateral NOS [Orphanet:4700]
Cataract [MedDRA:10007739]
Bilateral cataracts [MedDRA:10007739]
Cataract (left) [MedDRA:10007739]
Cataract (right) [MedDRA:10007739]
Cataract aggravated [MedDRA:10007739]
Cataract associated with other disorders [MedDRA:10007739]
Cataract associated with other syndromes [MedDRA:10007739]
Cataract bilateral NOS [MedDRA:10007739]
Cataract in degenerative ocular disorders [MedDRA:10007739]
Cataract in inflammatory ocular disorders [MedDRA:10007739]
Cataract lenticular [MedDRA:10007739]
Cataract NEC [MedDRA:10007739]
Cataract NOS [MedDRA:10007739]
Cataract NOS aggravated [MedDRA:10007739]
Cataract secondary to glaucomatous flecks (subcapsular) [MedDRA:10007739]
Cataract secondary to ocular disorders [MedDRA:10007739]
Cataract specified [MedDRA:10007739]
Cataract unilateral [MedDRA:10007739]
Cataract unspecified [MedDRA:10007739]
Cataract with ocular neovascularization [MedDRA:10007739]
Cataracta complicata, unspecified [MedDRA:10007739]
Cataracts [MedDRA:10007739]
Cataracts lenticular [MedDRA:10007739]
Cortical, lamellar, or zonular nonsenile cataract [MedDRA:10007739]
Hypermature cataract [MedDRA:10007739]
Incipient senile cataract [MedDRA:10007739]
Infantile, juvenile, and presenile cataract [MedDRA:10007739]
Left cataract [MedDRA:10007739]
Myotonic cataract [MedDRA:10007739]
Nonsenile cataract, unspecified [MedDRA:10007739]
Other and combined forms of nonsenile cataract [MedDRA:10007739]
Other and combined forms of senile cataract [MedDRA:10007739]
Other cataract [MedDRA:10007739]
Right cataract [MedDRA:10007739]
Secondary cataract [MedDRA:10007739]
Senile cataract [MedDRA:10007739]
Senile cataract, unspecified [MedDRA:10007739]
Tetanic cataract [MedDRA:10007739]
Total or mature cataract [MedDRA:10007739]
Unspecified cataract [MedDRA:10007739]
Phacosclerosis [MedDRA:10007739]
Cataract with ocular neovascularisation [MedDRA:10007739]
Non-senile cataract, unspecified [MedDRA:10007739]
Cataract steroid-induced [MedDRA:10007739]
Intumescent cataract [MedDRA:10007739]
Cataract (21%) [OMIM:Cataract (21%)]
Cataract (28%) [OMIM:Cataract (28%)]
Cataract (Alport syndrome with macrothrombocytopenia) [OMIM:Cataract (Alport syndrome with macrothrombocytopenia)]
Cataract (in 2 brothers) [OMIM:Cataract (in 2 brothers)]
Cataract (in some patients) [OMIM:Cataract (in some patients)]
Cataracts (1 patient) [OMIM:Cataracts (1 patient)]
Cataracts (anterior- subcapsular) [OMIM:Cataracts (anterior- subcapsular)]
Cataracts (e.g. 180380.0016) [OMIM:Cataracts (e.g. 180380.0016)]
Cataracts (in older patients) [OMIM:Cataracts (in older patients)]
Cataracts (in some patients) [OMIM:Cataracts (in some patients)]
Cataracts (later onset) [OMIM:Cataracts (later onset)]
Cataracts (less common) [OMIM:Cataracts (less common)]
Cataracts (rare) [OMIM:Cataracts (rare)]
Cataracts (uncommon) [OMIM:Cataracts (uncommon)]
Lens opacities (type II, infantile and juvenile) [OMIM:Lens opacities (type II, infantile and juvenile)]
Lens opacity (rare) [OMIM:Lens opacity (rare)]
No cataract (Epstein syndrome) [OMIM:No cataract (Epstein syndrome)]
No cataracts [OMIM:No cataracts]
Quality:
Cross references:
Orphanet:4700 "Cataract/lens opacification" [Orphanet:4700]
OMIM: "Cataract" [OMIM:Cataract]
OMIM: "Cataracts" [OMIM:Cataracts]
OMIM: "Lens opacities" [OMIM:Lens opacities]
OMIM: "cataract" [OMIM:cataract]
OMIM: "Cataract (21%)" [OMIM:Cataract (21%)]
OMIM: "Cataract (28%)" [OMIM:Cataract (28%)]
OMIM: "Cataract (Alport syndrome with macrothrombocytopenia)" [OMIM:Cataract (Alport syndrome with macrothrombocytopenia)]
OMIM: "Cataract (in 2 brothers)" [OMIM:Cataract (in 2 brothers)]
OMIM: "Cataract (in some patients)" [OMIM:Cataract (in some patients)]
OMIM: "Cataracts (1 patient)" [OMIM:Cataracts (1 patient)]
OMIM: "Cataracts (anterior- subcapsular)" [OMIM:Cataracts (anterior- subcapsular)]
OMIM: "Cataracts (e.g. 180380.0016)" [OMIM:Cataracts (e.g. 180380.0016)]
OMIM: "Cataracts (in older patients)" [OMIM:Cataracts (in older patients)]
OMIM: "Cataracts (in some patients)" [OMIM:Cataracts (in some patients)]
OMIM: "Cataracts (later onset)" [OMIM:Cataracts (later onset)]
OMIM: "Cataracts (less common)" [OMIM:Cataracts (less common)]
OMIM: "Cataracts (rare)" [OMIM:Cataracts (rare)]
OMIM: "Cataracts (uncommon)" [OMIM:Cataracts (uncommon)]
OMIM: "Lens opacities (type II, infantile and juvenile)" [OMIM:Lens opacities (type II, infantile and juvenile)]
OMIM: "Lens opacity (rare)" [OMIM:Lens opacity (rare)]
OMIM: "No cataract (Epstein syndrome)" [OMIM:No cataract (Epstein syndrome)]
OMIM: "No cataracts" [OMIM:No cataracts]
UMLS:C0086543 "Cataract" [HPO:0000518]
UMLS:C0521707 "Bilateral cataracts (disorder)" [Orphanet:4700]
UMLS:C1690964 "cataract on exam (physical finding)" [Orphanet:4700]
UMLS:C0086543 "Cataract" [Orphanet:4700]
Is a (Direct Parents):
HPO         Abnormality of the lens
MedDRA Cataract conditions
Orphanet Abnormality of the eye
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the lens(HPO:0000517)
                      Cataract(HPO:0000518)
MedDRA:
Eye disorders(MedDRA:10015919)
    Anterior eye structural change, deposit and degeneration(MedDRA:10002693)
       Cataract conditions(MedDRA:10007772)
          Cataract(HPO:0000518)
Database Frequency: 454 / 7739
Resource:

All diseases associated with this symptom:

19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
22q11.2 deletion syndrome (Orphanet:567)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
8q21.11 microdeletion syndrome (Orphanet:284160)
ACHROMATOPSIA 3 (OMIM:262300)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG2-CDG (Orphanet:79326)
ALG8-CDG (Orphanet:79325)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Absence deformity of leg - cataract (Orphanet:2310)
Acro-renal-ocular syndrome (Orphanet:959)
Acroosteolysis, dominant type (Orphanet:955)
Adams-Oliver syndrome (Orphanet:974)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Aicardi syndrome (Orphanet:50)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Albright hereditary osteodystrophy (Orphanet:665)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Alpha-crystallinopathy (Orphanet:98910)
Alpha-mannosidosis (Orphanet:61)
Alport syndrome (Orphanet:63)
Alström syndrome (Orphanet:64)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Aniridia - absent patella (Orphanet:1069)
Aniridia - ptosis - intellectual deficit - familial obesity (Orphanet:1067)
Aniridia-intellectual deficit syndrome (Orphanet:1068)
Aspartylglucosaminuria (Orphanet:93)
Autoimmune polyendocrinopathy type 1 (Orphanet:3453)
Autoimmune polyendocrinopathy type 2 (Orphanet:3143)
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (Orphanet:324530)
Autosomal dominant chondrodysplasia punctata (Orphanet:79344)
Autosomal dominant limb-girdle muscular dystrophy type 1G (Orphanet:55596)
Autosomal dominant optic atrophy and cataract (Orphanet:67036)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal recessive Alport syndrome (Orphanet:88919)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive palmoplantar keratoderma and congenital alopecia (Orphanet:1366)
Autosomal recessive proximal renal tubular acidosis (Orphanet:93607)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 26 (Orphanet:101006)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 18 (OMIM:615995)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 9 (OMIM:615986)
Behçet disease (Orphanet:117)
Beta-thalassemia major (Orphanet:231214)
Blau syndrome (Orphanet:90340)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
Branchio-oculo-facial syndrome (Orphanet:1297)
CATARACT 11, MULTIPLE TYPES (OMIM:610623)
CATARACT 15, MULTIPLE TYPES (OMIM:615274)
CATARACT 18 (OMIM:610019)
CATARACT 29 (OMIM:115800)
CATARACT 35 (OMIM:609376)
CATARACT 36 (OMIM:613887)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT (OMIM:601372)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
CODAS syndrome (Orphanet:1458)
COFS syndrome (Orphanet:1466)
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES (OMIM:269400)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
Cardiomyopathy-cataract-hip spine disease (Orphanet:1345)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Cataract - aberrant oral frenula - growth delay (Orphanet:1373)
Cataract - ataxia - deafness (Orphanet:1368)
Cataract - deafness - hypogonadism (Orphanet:1383)
Cataract - hypertrichosis - intellectual deficit (Orphanet:1375)
Cataract - intellectual deficit - anal atresia - urinary defects (Orphanet:1381)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Cataract-microcornea syndrome (Orphanet:1377)
Cenani-Lenz syndrome (Orphanet:3258)
Cerebellum agenesis - hydrocephaly (Orphanet:1397)
Cerebroretinal vasculopathy (Orphanet:3421)
Cerebrotendinous xanthomatosis (Orphanet:909)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Choreoacanthocytosis (Orphanet:2388)
Classic galactosemia (Orphanet:79239)
Classical homocystinuria (Orphanet:394)
Classical phenylketonuria (Orphanet:79254)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coats disease (Orphanet:190)
Cochleosaccular degeneration - cataract (Orphanet:3233)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome (Orphanet:363741)
Congenital blindness due to retinal non-attachment (Orphanet:300337)
Congenital cataract - ichthyosis (Orphanet:1376)
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay (Orphanet:330054)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital hypothyroidism (Orphanet:442)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital rubella syndrome (Orphanet:290)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Cornelia de Lange syndrome (Orphanet:199)
Cowden syndrome (Orphanet:201)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - cataract (Orphanet:1530)
Cronkhite-Canada syndrome (Orphanet:2930)
Cushing disease (Orphanet:96253)
Cushing syndrome (Orphanet:553)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES (OMIM:300719)
DERMATITIS, ATOPIC (OMIM:603165)
DPAGT1-CDG (Orphanet:86309)
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES (OMIM:127200)
Dahlberg-Borer-Newcomer syndrome (Orphanet:1563)
De Barsy syndrome (Orphanet:2962)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - onychodystrophy (Orphanet:3231)
Dent disease type 2 (Orphanet:93623)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Distal trisomy 6p (Orphanet:1745)
Donnai-Barrow syndrome (Orphanet:2143)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Down syndrome (Orphanet:870)
Dubowitz syndrome (Orphanet:235)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dyschromatosis universalis hereditaria 1 (OMIM:127500)
Dyschromatosis universalis hereditaria 2 (OMIM:612715)
Dyschromatosis universalis hereditaris 3 (OMIM:615402)
Dysequilibrium syndrome (Orphanet:1766)
Dyskeratosis congenita (Orphanet:1775)
ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE (OMIM:608763)
EPSTEIN SYNDROME (OMIM:153650)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia syndrome (Orphanet:79373)
Ectopia lentis - chorioretinal dystrophy - myopia (Orphanet:1884)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts (OMIM:225740)
Erythrokeratodermia variabilis (Orphanet:317)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Fabry disease (Orphanet:324)
Familial isolated hypoparathyroidism (Orphanet:2238)
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (Orphanet:2239)
Familial isolated hypoparathyroidism due to impaired PTH secretion (Orphanet:189466)
Familial leiomyomatosis (Orphanet:523)
Familial ocular anterior segment mesenchymal dysgenesis (Orphanet:88632)
Fanconi anemia (Orphanet:84)
Fetal varicella syndrome (Orphanet:291)
Fine-Lubinsky syndrome (Orphanet:1272)
Flynn-Aird syndrome (Orphanet:2047)
Foveal hypoplasia - presenile cataract (Orphanet:2253)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia (Orphanet:250)
Galactokinase deficiency (Orphanet:79237)
Galactose epimerase deficiency (Orphanet:79238)
Galactosemia (Orphanet:352)
Galloway-Mowat syndrome (Orphanet:2065)
Glaucoma - ectopia - microspherophakia - stiff joints - short stature (Orphanet:2084)
Goldmann-Favre syndrome (Orphanet:53540)
Gorlin syndrome (Orphanet:377)
Granular corneal dystrophy type I (Orphanet:98962)
HEC syndrome (Orphanet:2119)
HERNS syndrome (Orphanet:63261)
HYPERTROPHIC NEUROPATHY AND CATARACT (OMIM:239900)
Hallermann-Streiff syndrome (Orphanet:2108)
Harlequin ichthyosis (Orphanet:457)
Harrod syndrome (Orphanet:2115)
Hereditary hyperferritinemia with congenital cataracts (Orphanet:163)
Hereditary mucoepithelial dysplasia (Orphanet:1839)
Hereditary vascular retinopathy (Orphanet:71291)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hidrotic ectodermal dysplasia (Orphanet:189)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hypergonadotropic hypogonadism - cataract syndrome (Orphanet:2410)
Hypomyelination - congenital cataract (Orphanet:85163)
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism (Orphanet:2250)
IRIS PIGMENT LAYER, CLEAVAGE OF (OMIM:147610)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Incontinentia pigmenti (Orphanet:464)
Infantile Refsum disease (Orphanet:772)
Infantile spasms - broad thumbs (Orphanet:3173)
Insulin-resistance syndrome type A (Orphanet:2297)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated aniridia (Orphanet:250923)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 9 (OMIM:612285)
Juvenile cataract - microcornea - renal glucosuria (Orphanet:247794)
KAHRIZI SYNDROME (OMIM:612713)
Kapur-Toriello syndrome (Orphanet:2328)
Karsch-Neugebauer syndrome (Orphanet:2329)
Kniest dysplasia (Orphanet:485)
Knobloch syndrome (Orphanet:1571)
Koolen-De Vries syndrome (Orphanet:96169)
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME (OMIM:308940)
Lathosterolosis (Orphanet:46059)
Laurence-Moon syndrome (Orphanet:2377)
Leber congenital amaurosis (Orphanet:65)
Leber congenital amaurosis 1 (OMIM:204000)
Leber congenital amaurosis 10 (OMIM:611755)
Leber congenital amaurosis 16 (OMIM:614186)
Leber congenital amaurosis 2 (OMIM:204100)
Leber congenital amaurosis 6 (OMIM:613826)
Leber congenital amaurosis 7 (OMIM:613829)
Leber congenital amaurosis 8 (OMIM:613835)
Lhermitte-Duclos disease (Orphanet:65285)
Linear verrucous nevus syndrome (Orphanet:2611)
Lymphedema - distichiasis (Orphanet:33001)
MEDNIK syndrome (Orphanet:171851)
MEGALOCORNEA (OMIM:309300)
MELAS (Orphanet:550)
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME (OMIM:610156)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 (OMIM:156850)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) (OMIM:615418)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MOVED TO 302200 (OMIM:315000)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MYH9-related thrombocytopenia (Orphanet:182050)
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
Malignant atrophic papulosis (Orphanet:679)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Marfan syndrome type 1 (Orphanet:284963)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall syndrome (Orphanet:560)
Maternal hyperphenylalaninemia (Orphanet:2209)
Maternally-inherited diabetes and deafness (Orphanet:225)
Meckel syndrome (Orphanet:564)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Metatropic dysplasia (Orphanet:2635)
Mevalonic aciduria (Orphanet:29)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microphthalmia - cataract (Orphanet:2543)
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen (Orphanet:251279)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia, Lenz type (Orphanet:568)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mietens syndrome (Orphanet:2557)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monilethrix (Orphanet:573)
Monosomy 13q14 (Orphanet:1587)
Monosomy 5p (Orphanet:281)
Morning glory syndrome (Orphanet:35737)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Mucopolysaccharidosis type 3 (Orphanet:581)
Multiple epiphyseal dysplasia, Beighton type (Orphanet:166011)
Multiple non-ossifying fibromatosis (Orphanet:2029)
Multiple sulfatase deficiency (Orphanet:585)
Muscle-eye-brain disease (Orphanet:588)
Myhre syndrome (Orphanet:2588)
Nail-patella syndrome (Orphanet:2614)
Nance-Horan syndrome (Orphanet:627)
Nasopalpebral lipoma - coloboma - telecanthus (Orphanet:2399)
Nathalie syndrome (Orphanet:2663)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neu-Laxova syndrome (Orphanet:2671)
Neurofibromatosis type 2 (Orphanet:637)
Neutral lipid storage disease (Orphanet:165)
Nevus comedonicus syndrome (Orphanet:64754)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Norrie disease (Orphanet:649)
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS (OMIM:257790)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculoosteocutaneous syndrome (Orphanet:2713)
Okihiro syndrome (Orphanet:93293)
Osteocraniostenosis (Orphanet:2763)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otodental syndrome (Orphanet:2791)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
PHACE syndrome (Orphanet:42775)
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS (OMIM:615704)
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS (OMIM:263100)
PREMATURE AGING SYNDROME, OKAMOTO TYPE (OMIM:601811)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
Pachyonychia congenita (Orphanet:2309)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Peters anomaly (Orphanet:708)
Peters-plus syndrome (Orphanet:709)
Phenylketonuria (Orphanet:716)
Pierson syndrome (Orphanet:2670)
Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet:306547)
Primary cutis verticis gyrata (Orphanet:671)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Proximal myotonic myopathy (Orphanet:606)
Proximal renal tubular acidosis (Orphanet:47159)
Pseudohypoparathyroidism type 1A (Orphanet:79443)
Pseudohypoparathyroidism type 1C (Orphanet:79444)
Pseudopseudohypoparathyroidism (Orphanet:79445)
RETINITIS PIGMENTOSA 2 (OMIM:312600)
RETINITIS PIGMENTOSA 37 (OMIM:611131)
RETINITIS PIGMENTOSA 4 (OMIM:613731)
RETINITIS PIGMENTOSA 9 (OMIM:180104)
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION (OMIM:268050)
ROBERTS SYNDROME (OMIM:268300)
Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)
Refsum disease (Orphanet:773)
Relapsing polychondritis (Orphanet:728)
Renal coloboma syndrome (Orphanet:1475)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Renpenning syndrome (Orphanet:3242)
Retinal vasculopathy and cerebral leukodystrophy (Orphanet:247691)
Retinitis pigmentosa (Orphanet:791)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 1 (Orphanet:221008)
Rothmund-Thomson syndrome type 2 (Orphanet:221016)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SEBASTIAN SYNDROME (OMIM:605249)
SHORT syndrome (Orphanet:3163)
SPONASTRIME dysplasia (Orphanet:93357)
STORM SYNDROME (OMIM:185069)
Sarcoidosis (Orphanet:797)
Scalp-ear-nipple syndrome (Orphanet:2036)
Schwartz-Jampel syndrome (Orphanet:800)
Senior-Loken syndrome (Orphanet:3156)
Senior-Loken syndrome 5 (OMIM:609254)
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis (Orphanet:70595)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Sialidosis type 1 (Orphanet:812)
Siegler-Brewer-Carey syndrome (Orphanet:3167)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Snowflake vitreoretinal degeneration (Orphanet:91496)
Spastic ataxia - corneal dystrophy (Orphanet:2572)
Spastic paraparesis - deafness (Orphanet:2815)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Steinert myotonic dystrophy (Orphanet:273)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Stickler syndrome type 2 (Orphanet:90654)
Syndromic microphthalmia type 5 (Orphanet:178364)
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT (OMIM:273680)
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM:601675)
Tetraamelia - multiple malformations (Orphanet:3301)
Tetrasomy 12p (Orphanet:884)
Townes-Brocks syndrome (Orphanet:857)
Transketolase deficiency (ORPHA:488618)
Treacher-Collins syndrome (Orphanet:861)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Tricho-retino-dento-digital syndrome (Orphanet:1264)
Trichomegaly - cataract - hereditary spherocytosis (Orphanet:3362)
Triploidy (Orphanet:3376)
Trisomy 13 (Orphanet:3378)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Usher syndrome type 3 (Orphanet:231183)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
Vici syndrome (Orphanet:1493)
Vogt-Koyanagi-Harada disease (Orphanet:3437)
Von Hippel-Lindau disease (Orphanet:892)
WAGR syndrome (Orphanet:893)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Wagner disease (Orphanet:898)
Walker-Warburg syndrome (Orphanet:899)
Weill-Marchesani syndrome (Orphanet:3449)
Werner syndrome (Orphanet:902)
Williams syndrome (Orphanet:904)
Wolfram syndrome 1 (OMIM:222300)
Wolfram-like syndrome (ORPHA:411590)
Woolly hair (Orphanet:170)
Woolly hair - hypotrichosis - everted lower lip - outstanding ears (Orphanet:1409)
X-linked Alport syndrome (Orphanet:88917)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked immunoneurologic disorder (Orphanet:2571)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked retinoschisis (Orphanet:792)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Xeroderma pigmentosum complementation group G (Orphanet:276267)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zimmermann-Laband syndrome (Orphanet:3473)