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AMYOTROPHIC LATERAL SCLEROSIS 5
|
(OMIM:602099)
|
|
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1
|
(OMIM:608638)
|
|
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2
|
(OMIM:608631)
|
|
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
|
(OMIM:300494)
|
|
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
|
(OMIM:300497)
|
|
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION
|
(OMIM:270500)
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
|
(OMIM:603909)
|
|
Acroosteolysis, dominant type
|
(Orphanet:955)
|
|
Albers-Schönberg osteopetrosis
|
(Orphanet:53)
|
|
Angioma serpiginosum
|
(Orphanet:95429)
|
|
Ataxia - hypogonadism - choroidal dystrophy
|
(Orphanet:1180)
|
|
Ataxia - oculomotor apraxia type 1
|
(Orphanet:1168)
|
|
Autoimmune polyendocrinopathy type 1
|
(Orphanet:3453)
|
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
|
(Orphanet:100044)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1F
|
(Orphanet:55595)
|
|
Autosomal dominant nocturnal frontal lobe epilepsy
|
(Orphanet:98784)
|
|
Autosomal recessive distal osteolysis syndrome
|
(Orphanet:2776)
|
|
Autosomal recessive lymphoproliferative disease
|
(Orphanet:238505)
|
|
Bannayan-Riley-Ruvalcaba syndrome
|
(Orphanet:109)
|
|
Benign familial chorea
|
(Orphanet:1429)
|
|
CACH syndrome
|
(Orphanet:135)
|
|
CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE
|
(OMIM:302700)
|
|
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED
|
(OMIM:302900)
|
|
CLN7 disease
|
(Orphanet:228366)
|
|
CONE-ROD DYSTROPHY 1
|
(OMIM:600624)
|
|
Camurati-Engelmann disease
|
(Orphanet:1328)
|
|
Cap myopathy
|
(Orphanet:171881)
|
|
Charcot-Marie-Tooth disease type 1A
|
(Orphanet:101081)
|
|
Charcot-Marie-Tooth disease type 1B
|
(Orphanet:101082)
|
|
Charcot-Marie-Tooth disease type 1C
|
(Orphanet:101083)
|
|
Charcot-Marie-Tooth disease type 1D
|
(Orphanet:101084)
|
|
Charcot-Marie-Tooth disease type 1E
|
(Orphanet:90658)
|
|
Charcot-Marie-Tooth disease type 1F
|
(Orphanet:101085)
|
|
Charcot-Marie-Tooth disease type 2H
|
(Orphanet:101102)
|
|
Charcot-Marie-Tooth disease type 4B2
|
(Orphanet:99956)
|
|
Charcot-Marie-Tooth disease type 4D
|
(Orphanet:99950)
|
|
Chilblain lupus
|
(Orphanet:90280)
|
|
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
|
(Orphanet:284324)
|
|
Congenital myasthenic syndromes with glycosylation defect
|
(Orphanet:353327)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
(OMIM:603622)
|
|
DEAFNESS, AUTOSOMAL DOMINANT 49
|
(OMIM:608372)
|
|
DYSTONIA WITH RINGBINDEN
|
(OMIM:224550)
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
|
(OMIM:607682)
|
|
EXOSTOSES, MULTIPLE, TYPE II
|
(OMIM:133701)
|
|
Episodic ataxia type 1
|
(Orphanet:37612)
|
|
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
|
(OMIM:229310)
|
|
Fabry disease
|
(Orphanet:324)
|
|
Familial Mediterranean fever
|
(Orphanet:342)
|
|
Familial digital arthropathy-brachydactyly
|
(Orphanet:85169)
|
|
Familial dyskinesia and facial myokymia
|
(Orphanet:324588)
|
|
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis
|
(Orphanet:31043)
|
|
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
|
(Orphanet:93216)
|
|
Familial juvenile hyperuricemic nephropathy type 1
|
(Orphanet:209886)
|
|
Familial partial lipodystrophy, Köbberling type
|
(Orphanet:79084)
|
|
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
|
(OMIM:233690)
|
|
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE I
|
(OMIM:233700)
|
|
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE II
|
(OMIM:233710)
|
|
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
|
(OMIM:306400)
|
|
Giant axonal neuropathy
|
(Orphanet:643)
|
|
Gitelman syndrome
|
(Orphanet:358)
|
|
Glycogen storage disease due to lactate dehydrogenase deficiency
|
(Orphanet:2364)
|
|
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION
|
(OMIM:607236)
|
|
Hereditary myoclonus - progressive distal muscular atrophy
|
(Orphanet:2590)
|
|
Hereditary sensory and autonomic neuropathy with spastic paraplegia
|
(Orphanet:139578)
|
|
Hot water reflex epilepsy
|
(Orphanet:166412)
|
|
Hypercalcemic tumoral calcinosis
|
(Orphanet:306661)
|
|
INTRINSIC FACTOR DEFICIENCY
|
(OMIM:261000)
|
|
Immunodeficiency with factor H anomaly
|
(Orphanet:200421)
|
|
Immunodeficiency with factor I anomaly
|
(Orphanet:200418)
|
|
Juvenile primary lateral sclerosis
|
(Orphanet:247604)
|
|
KERATITIS FUGAX HEREDITARIA
|
(OMIM:148200)
|
|
LEG ULCERS, FAMILIAL, OF JUVENILE ONSET
|
(OMIM:150590)
|
|
Leukoencephalopathy - metaphyseal chondrodysplasia
|
(Orphanet:83629)
|
|
Loose anagen syndrome
|
(Orphanet:168)
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
|
(OMIM:608443)
|
|
Macular corneal dystrophy
|
(Orphanet:98969)
|
|
Mandibuloacral dysplasia
|
(Orphanet:2457)
|
|
Mitochondrial nonsyndromic sensorineural deafness
|
(Orphanet:90641)
|
|
Mucopolysaccharidosis type 4A
|
(Orphanet:309297)
|
|
Mucopolysaccharidosis type 4B
|
(Orphanet:309310)
|
|
Multiple osteochondromas
|
(Orphanet:321)
|
|
Myoclonus-dystonia syndrome
|
(Orphanet:36899)
|
|
Myosclerosis
|
(Orphanet:289380)
|
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
|
(OMIM:613115)
|
|
OCULAR MYOPATHY WITH CURARE SENSITIVITY
|
(OMIM:257600)
|
|
Postsynaptic congenital myasthenic syndromes
|
(Orphanet:98913)
|
|
Primary dystonia, DYT2 type
|
(Orphanet:99657)
|
|
Progressive osseous heteroplasia
|
(Orphanet:2762)
|
|
Reading seizures
|
(Orphanet:166433)
|
|
Riboflavin transporter deficiency
|
(Orphanet:97229)
|
|
Roussy-Lévy syndrome
|
(Orphanet:3115)
|
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
(OMIM:607944)
|
|
Sanfilippo syndrome type B
|
(Orphanet:79270)
|
|
Sodium channelopathy-related small fiber neuropathy
|
(Orphanet:306577)
|
|
Spastic paraparesis - deafness
|
(Orphanet:2815)
|
|
Spastic paraplegia type 2
|
(Orphanet:99015)
|
|
Spinocerebellar ataxia type 15/16
|
(Orphanet:98769)
|
|
Talo-patello-scaphoid osteolysis
|
(Orphanet:50809)
|
|
Thiamine-responsive encephalopathy
|
(Orphanet:199348)
|
|
Torg-Winchester syndrome
|
(Orphanet:3460)
|
|
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
|
(OMIM:277465)
|
|
X-linked distal spinal muscular atrophy
|
(Orphanet:139557)
|
|
X-linked progressive cerebellar ataxia
|
(Orphanet:1175)
|
|
X-linked sideroblastic anemia - ataxia
|
(Orphanet:2802)
|
|
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
|
(OMIM:310300)
|