ACTH-independent macronodular adrenal hyperplasia
|
(Orphanet:189427)
|
ALZHEIMER DISEASE 3
|
(OMIM:607822)
|
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
(OMIM:300857)
|
AMYOTROPHIC LATERAL SCLEROSIS 17
|
(OMIM:614696)
|
ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
|
(OMIM:608984)
|
Adult-onset autosomal dominant leukodystrophy
|
(Orphanet:99027)
|
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
|
(Orphanet:313808)
|
Alpha-N-acetylgalactosaminidase deficiency type 2
|
(Orphanet:79280)
|
Alpha-crystallinopathy
|
(Orphanet:98910)
|
Ataxia - oculomotor apraxia type 1
|
(Orphanet:1168)
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
(Orphanet:266)
|
Autosomal dominant limb-girdle muscular dystrophy type 1D
|
(Orphanet:34516)
|
Autosomal dominant limb-girdle muscular dystrophy type 1F
|
(Orphanet:55595)
|
Autosomal dominant limb-girdle muscular dystrophy type 1G
|
(Orphanet:55596)
|
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
|
(Orphanet:34149)
|
Autosomal dominant progressive external ophthalmoplegia
|
(Orphanet:254892)
|
Autosomal dominant progressive nephropathy with hypertension
|
(Orphanet:88659)
|
Autosomal dominant slowed nerve conduction velocity
|
(Orphanet:140481)
|
Autosomal dominant spastic paraplegia type 8
|
(Orphanet:100989)
|
Autosomal recessive cerebellar ataxia - saccadic intrusion
|
(Orphanet:95434)
|
Autosomal recessive progressive external ophthalmoplegia
|
(Orphanet:254886)
|
Autosomal recessive spastic paraplegia type 14
|
(Orphanet:100995)
|
Autosomal recessive spastic paraplegia type 27
|
(Orphanet:101007)
|
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
|
(OMIM:113610)
|
BROOKE-SPIEGLER SYNDROME
|
(OMIM:605041)
|
Benign adult familial myoclonic epilepsy
|
(Orphanet:86814)
|
Bilateral striopallidodentate calcinosis
|
(Orphanet:1980)
|
CLN13 disease
|
(Orphanet:352709)
|
CLN4A disease
|
(Orphanet:228340)
|
CLN4B disease
|
(Orphanet:228343)
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
|
(OMIM:615083)
|
CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
|
(OMIM:304030)
|
COWDEN SYNDROME 5
|
(OMIM:615108)
|
COWDEN SYNDROME 6
|
(OMIM:615109)
|
Charcot-Marie-Tooth disease type 2B2
|
(Orphanet:101101)
|
Classical progressive supranuclear palsy
|
(Orphanet:240071)
|
Cowden syndrome
|
(Orphanet:201)
|
DYSTONIA 23
|
(OMIM:614860)
|
Distal myopathy with early respiratory muscle involvement
|
(Orphanet:34521)
|
Distal myopathy with vocal cord weakness
|
(Orphanet:600)
|
Distal myopathy, Nonaka type
|
(Orphanet:602)
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
(OMIM:614302)
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
|
(OMIM:607876)
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
|
(OMIM:613608)
|
EPISODIC PAIN SYNDROME, FAMILIAL, 2
|
(OMIM:615551)
|
Familial Dupuytren contracture
|
(Orphanet:79142)
|
Familial amyloid polyneuropathy
|
(Orphanet:85447)
|
Familial amyloidosis, Finnish type
|
(Orphanet:85448)
|
Familial articular chondrocalcinosis
|
(Orphanet:1416)
|
Familial cortical myoclonus
|
(Orphanet:319189)
|
Familial cylindromatosis
|
(Orphanet:211)
|
Familial multiple meningioma
|
(Orphanet:263662)
|
Familial multiple trichoepithelioma
|
(Orphanet:867)
|
Familial primary localized cutaneous amyloidosis
|
(Orphanet:353220)
|
Fatal familial insomnia
|
(Orphanet:466)
|
Fragile X-associated tremor/ataxia syndrome
|
(Orphanet:93256)
|
Frontotemporal dementia with motor neuron disease
|
(Orphanet:275872)
|
GLAUCOMA 1, OPEN ANGLE, P
|
(OMIM:177700)
|
Gerstmann-Straussler-Scheinker syndrome
|
(Orphanet:356)
|
Glycogen storage disease due to muscle beta-enolase deficiency
|
(Orphanet:99849)
|
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
|
(Orphanet:368)
|
Hereditary motor and sensory neuropathy type 5
|
(Orphanet:64751)
|
Hereditary motor and sensory neuropathy, Okinawa type
|
(Orphanet:90117)
|
Hereditary pheochromocytoma-paraganglioma
|
(Orphanet:29072)
|
Hyperkeratosis lenticularis perstans
|
(Orphanet:409)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 4
|
(OMIM:613494)
|
Isolated focal cortical dysplasia type II
|
(Orphanet:268994)
|
Kennedy disease
|
(Orphanet:481)
|
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
|
(OMIM:606183)
|
Limb dystonia
|
(Orphanet:93957)
|
MIYOSHI MUSCULAR DYSTROPHY 3
|
(OMIM:613319)
|
MUSCULAR ATROPHY, MALIGNANT NEUROGENIC
|
(OMIM:158650)
|
Metachromatic leukodystrophy
|
(Orphanet:512)
|
Miyoshi myopathy
|
(Orphanet:45448)
|
Mohr-Tranebjaerg syndrome
|
(Orphanet:52368)
|
Multiple system atrophy
|
(Orphanet:102)
|
Muscle filaminopathy
|
(Orphanet:171445)
|
Myasthenia gravis
|
(Orphanet:589)
|
Myotilin-related myofibrillar myopathy without spheroid body
|
(Orphanet:98911)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
|
(OMIM:608634)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
|
(OMIM:607641)
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
|
(OMIM:608720)
|
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
|
(OMIM:613708)
|
NONAKA MYOPATHY
|
(OMIM:605820)
|
Neutral lipid storage myopathy
|
(Orphanet:98908)
|
Oculopharyngeal muscular dystrophy
|
(Orphanet:270)
|
PARAGANGLIOMAS 1
|
(OMIM:168000)
|
PARAGANGLIOMAS 2
|
(OMIM:601650)
|
PARAGANGLIOMAS 3
|
(OMIM:605373)
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
(OMIM:600116)
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
(OMIM:606324)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2
|
(OMIM:609283)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3
|
(OMIM:609286)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4
|
(OMIM:610131)
|
PRURITUS, HEREDITARY LOCALIZED
|
(OMIM:177100)
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
|
(OMIM:614742)
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
|
(OMIM:614743)
|
Primary lateral sclerosis
|
(Orphanet:35689)
|
Progressive supranuclear palsy - parkinsonism
|
(Orphanet:240085)
|
Proximal spinal muscular atrophy type 4
|
(Orphanet:83420)
|
RIPPLING MUSCLE DISEASE
|
(OMIM:606072)
|
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
|
(OMIM:300695)
|
Spinocerebellar ataxia type 1
|
(Orphanet:98755)
|
Spinocerebellar ataxia type 11
|
(Orphanet:98767)
|
Spinocerebellar ataxia type 15/16
|
(Orphanet:98769)
|
Spinocerebellar ataxia type 20
|
(Orphanet:101110)
|
Spinocerebellar ataxia type 26
|
(Orphanet:101112)
|
Spinocerebellar ataxia type 35
|
(Orphanet:276193)
|
Spinocerebellar ataxia with epilepsy
|
(Orphanet:254881)
|
Stiff person syndrome
|
(Orphanet:3198)
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
|
(OMIM:188055)
|
Tibial muscular dystrophy
|
(Orphanet:609)
|
Tubular aggregate myopathy
|
(Orphanet:2593)
|
VACUOLAR NEUROMYOPATHY
|
(OMIM:601846)
|
X-linked dystonia-parkinsonism
|
(Orphanet:53351)
|
[DEL] MUSCULAR DYSTROPHY, BECKER TYPE
|
(OMIM:300376)
|
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
(OMIM:607259)
|