orphafolder

| 98892 | Periventricular nodular heterotopia
| 98912 | Late-onset distal myopathy, Markesbery-Griggs type
| 98911 | Distal myotilinopathy
| 98914 | Presynaptic congenital myasthenic syndromes
| 98913 | Postsynaptic congenital myasthenic syndromes
| 98916 | Acute inflammatory demyelinating polyradiculoneuropathy
| 98915 | Synaptic congenital myasthenic syndromes
| 98918 | Acute motor axonal neuropathy
| 98917 | Acute motor and sensory axonal neuropathy
| 98904 | Congenital myopathy with excess of thin filaments
| 98905 | Congenital multicore myopathy with external ophthalmoplegia
| 98908 | Neutral lipid storage myopathy
| 98907 | Dorfman-Chanarin disease
| 98910 | Alpha-crystallinopathy
| 98909 | Desminopathy
| 98933 | Multiple system atrophy, parkinsonian type
| 98934 | Huntington disease-like 2
| 98919 | Miller-Fisher syndrome
| 98920 | Spinal muscular atrophy with respiratory distress type 1
| 98922 | Blake pouch cyst
| 98942 | Coloboma of choroid and retina
| 98938 | Colobomatous microphthalmia
| 98949 | Complete cryptophthalmia
| 98950 | Partial cryptophthalmia
| 98947 | Coloboma of optic disc
| 98948 | Congenital symblepharon
| 98945 | Coloboma of macula
| 98946 | Coloboma of eyelid
| 98943 | Coloboma of eye lens
| 98944 | Coloboma of iris
| 98958 | Honey-droplet corneal dystrophy
| 98957 | Gelatinous drop-like corneal dystrophy
| 98956 | Epithelial basement membrane dystrophy
| 98955 | Lisch epithelial corneal dystrophy
| 98954 | Meesmann corneal dystrophy
| 98951 | Inverse Marcus-Gunn phenomenon
| 98964 | Lattice corneal dystrophy type I
| 98963 | Granular corneal dystrophy type II
| 98962 | Granular corneal dystrophy type I
| 98961 | Reis-Bücklers corneal dystrophy
| 98960 | Thiel-Behnke corneal dystrophy
| 98959 | Subepithelial mucinous corneal dystrophy
| 98971 | Posterior amorphous corneal dystrophy
| 98972 | Central cloudy dystrophy of François
| 98973 | Posterior polymorphous corneal dystrophy
| 98974 | Fuchs endothelial corneal dystrophy
| 98967 | Schnyder corneal dystrophy
| 98968 | Central discoid corneal dystrophy
| 98969 | Macular corneal dystrophy
| 98970 | Fleck corneal dystrophy
| 98979 | Chandler syndrome
| 98980 | Cogan-Reese syndrome
| 98981 | Essential iris atrophy
| 98975 | Congenital hereditary endothelial dystrophy type I
| 98976 | Congenital glaucoma
| 98977 | Juvenile glaucoma
| 98978 | Axenfeld anomaly
| 98988 | Early-onset anterior polar cataract
| 98990 | Coralliform cataract
| 98989 | Cerulean cataract
| 98984 | Pulverulent cataract
| 98985 | Early-onset sutural cataract
| 98995 | Early-onset zonular cataract
| 98992 | Early-onset partial cataract
| 98991 | Early-onset nuclear cataract
| 98994 | Total early-onset cataract
| 98993 | Early-onset posterior polar cataract
| 99001 | Butterfly-shaped pigment dystrophy
| 99002 | Reticular dystrophy of the retinal pigment epithelium
| 99000 | Adult-onset foveomacular vitelliform dystrophy
| 99003 | Multifocal pattern dystrophy simulating fundus flavimaculatus
| 99004 | Fundus pulverulentus
| 99013 | Spastic paraplegia type 7
| 99014 | X-linked Charcot-Marie-Tooth disease type 5
| 99015 | Spastic paraplegia type 2
| 99022 | Niemann-Pick disease type E
| 99027 | Adult-onset autosomal dominant leukodystrophy
| 99042 | Congenitally uncorrected transposition of the great arteries with coarctation
| 99043 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
| 99044 | Double outlet right ventricle with subaortic ventricular septal defect
| 99045 | Double outlet right ventricle with subpulmonary ventricular septal defect
| 99046 | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
| 99048 | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
| 99047 | Double outlet right ventricle with doubly committed ventricular septal defect
| 99050 | Pulmonary artery coming from the aorta
| 99049 | Pulmonary artery coming from patent ductus arteriosus
| 99052 | Discrete fibromuscular subaortic stenosis
| 99051 | Discrete fixed membranous subaortic stenosis
| 99054 | Valvular pulmonary stenosis
| 99053 | Tunnel subaortic stenosis
| 99056 | Parachute tricuspid valve
| 99055 | Congenital anomaly of the tricuspid valve chordae
| 99058 | Hypoplasia of the mitral valve annulus
| 99057 | Congenital mitral stenosis
| 99060 | Congenital unguarded mitral orifice
| 99059 | Congenital supravalvular mitral ring
| 99062 | Mitral valve agenesis
| 99061 | Accessory mitral valve tissue
| 98609 | EEC syndrome and related disorders
| 98610 | Rare disorder with conjunctival involvement as a major feature

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