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CELLS
DNA
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MIM number|name of disease:
Please select a MIM number or name of disease
ALS/ MOTOR NEURON DISEASE
ALS/MOTOR NEURON DISEASE
AMYOTROPHIC LATERAL SCLEROSIS
AMYOTROPHIC LATERAL SCLEROSIS;ALS
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA
CENTRALCORE MYOPATHY
CENTRONUCLEAR MYOPATHY
CEREBRAL PALSY
CHARCOT-MARIE-TOOTH DISEASE
CHARCOT-MARIE-TOOTH DISEASE, AXONAL TYPE
CHRONIC FATIGUE SYNDROME
CHRONIC NEUROPATHY
CMT LOM (DEFINED)
CONGENITAL DYSTROPHIES
CONGENITAL DYSTROPHY;CMD
CONGENITAL MYASTENIA
CONGENITAL MYASTENIA;CMG
CONNECTIVITIS
CONTROL
CONTROL SAMPLES
CONTROLS
CRITICAL ILLNESS MYOPATHY
DEGENERATIVE NEUROPATHY (HEREDITARY AND ACQUIRED)
DERMATOMYOSITIS
DERMATOMYOSITIS;DM
DILATATIVE IDIOPATHIC CARDIOMYOPATHY
DISENDOCRINE MYOPATHY
DISTAL MYOPATHY
DYSTONIA, TORSION ( UNDEFINED)
DYSTONIA, TORSION (DEFINED)
EPILEPSY
ESSENTIAL HYPERCKEMIA
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A (DEFINED)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A (UNDEFINED)
FIBER TYPE DISPROPORTION
HEREDITARY AND IDIOPATHIC NEUROPATHY
HEREDITARY SPASTIC PARAPLEGIA
HIDROSADENITIS CHRONIC
IBM
IDIOPATHIC SCOLIOSIS
INCLUSION BODY MYOSITIS
INCLUSION BODY MYOSITIS IBM
INFLAMMATORY MYOPATHIES
INFLAMMATORY NEUROPATHY
ISCHEMIC CARDIOPATHY
LIMB GIRDLE MUSCULAR DYSTROPHY, UNSPECIFIED SUBTYPE
LIMB-GIRDLE DYSTROPHY;LGMD
LIPID STORAGE MYOPATHY
LIPID STORAGE MYOPATHY;LSM
MAD DEFICIENCY
MALIGNANT HYPERTHERMIA
MARINESCO SJOGREN SYNDROME/CCFDN (DEFINED)
MARINESCO SJOGREN SYNDROME/CCFDN (UNDEFINED)
MELAS/MERRF
METABOLIC MYOPATHY
MILD NON SPECIFIC MYOPATHIC SIGNS
MILD NON SPECIFIC NEUROGENIC SIGNS
MINICORE MYOPATHY
MITOCHONDRIAL ENCEPHALOMYOP.
MITOCHONDRIAL MYOPATHY
MITOCHONDRIAL-LIPID-GLYCOGEN STORAGE
MORBO DI BASEDOW
MTDNA DEPLETION
MTDNA MACRODELETIONS
MTDNA MULTIPLE DELETIONS
MUCOPLOLYSACCHARIDOSIS (MORQUIO SYNDROME)
MULTIPLE LIPOMATOSIS
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
MYASTENIC SYNDROME
MYASTHENIA GRAVIS
MYASTHENIA GRAVIS;MG
MYOCARDITIS
MYOFIBRILLAR MYOPATHIES
NEMALINE MYOPATHY
NORMAL MUSCLE BIOPSY
NORMAL NERVE BIOPSY
OTHER LGMD
OTHER MITOCHONDRIAL DISORDERS
OTHER MTDNA POINT MUTATIONS
PEHO SYNDROME (UNDEFINED)
PEO 3243 POINT MUTATIONS
PEO/KSS
PERIODIC PARALYSIS
PLANE LIQUEN
POLYMYOSISTIS
POLYMYOSITIS
POLYMYOSITIS;PM
RESPIRATORY CHAIN DEFECTS
S. OF DOWN
SCAPULO-PERONEAL
SCAPULO-PERONEAL DYSTROPHY
SECONDARY DILATATIVE CARDIOMYOPATHY
SPINOCEREBELLAR/CEREBELLAR ATAXIA
SUDECK'S DYSTROPHY
THOMSEN/BECKER DISEASE CLCN1 CHANNEL
TOXIC OIL SYNDROME
TUBULAR AGGREGATES
UNSPECIFIED MYOPATHY
XANTHOMATOSIS (UNDEFINED)
100600|ACANTHOSIS NIGRICANS
101400|ACTH DEFICIENCY
102770|ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1; MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO, INCLUDED
102770|MAD DEFICIENCY
102770|MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
103050|ADENYLOSUCCINASE DEFICIENCY
103220|ADENINE NUCLEOTIDE TRANSLOCATOR
104110|ALOPECIA FAMILIAL
104200|ALPORT SYNDROME
105400|AMYOTROPHIC LATERAL SCLEROSIS
105650|DIAMOND-BLACKFAN ANEMIA
105830|ANGELMAN SYNDROME
106100|ANGIOEDEMA, HEREDITARY; HAE/ANGIONEUROTIC EDEMA
106200|ANIRIDIA
107400|ALPHA-1-ANTITRYPSIN DEFICIENCY
107741|APOLIPOPROTEIN E
107970|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL
107970|RVAD
108110|ARTHROGRYPOSIS MULTIPLEX CONGENITA
108500|EPISODIC ATAXIA
109150|MACHADO JOSEPH DISEASE, MJD
109150|SPINOCEREBELLAR ATAXIA, SCA1, SCA2, SCA6, SCA8, SCA7, SCA5, SCA19, SCA10, SCA17, SCA12, SCA27, SCA25, SCA21, SCA16, SCA14, SCA15 (UNDEFINED)
109400|BASAL CELL NEVUS SYNDROME
109650|BECHET SYNDROME
109650|BEHCET SYNDROME
113620|BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES
114140|CALLOSITIES HEREDITARY PAINFUL
115200|CARDIOMYOPATHY DILATED
115200|DILATED CARDIOMYOPATHIES
116700|TOTAL CONGENITAL CATARACT
117000|CENTRAL CORE DISEASE
117000|CENTRAL CORE DISEASE OF MUSCLE
117000|CENTRALCORE MYOPATHY
117000|CENTRAL-CORE MYOPATHY;CCD
117000|MALIGNANT HYPERTHERMIA, CCD;MH
117100|BENIGN ROLANDIC EPILEPSY
117210|CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT
117360|CEREBELLAR ATAXIA
117550|SOTOS SYNDROME
118200|CHARCOT MARIE-TOOTH
118200|CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1B
118200|CHARCOT-MARIE-TOOTH; CMT
118210|CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2A
118220|CHARCOT MARIE-TOOTH; HMSN1A DEFINED
118220|CHARCOT-MARIE-TOOTH DISEASE (UNDEFINED)
118220|CHARCOT-MARIE-TOOTH DISEASE, CMT1A (DEFINED)
118220|CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
118220|CHARCOT-MARIE-TOOTH DISEASE;CMT1A
118400|CHERUBISM
118600|CHONDROCALCINOSIS 2
119530|OROFACIAL CLEFT 1
120220|BETHLEM MYOPATHY
120220|ULRICH DISEASE
120435|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1
120970|CONE-ROD DYSTROPHY 2
121200|EPILEPSY BENIGN NEONATAL
121210|FEBRILE CONVULSIONS FAMILIAL
123500|CROUZON SYNDROME
123700|CUTIS-LAXA
125310|CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT; CADASIL (UNDEFINED)
125480|MANIC-DEPRESSIVE PSYCHOSIS
125853|DIABETES MELLITUS NONINSULIN-DEPENDENT
126200|MULTIPLE SCLEROSIS
126200|MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
126600|DRUSEN RADIAL AUTOSOMAL DOMINANT
128100|TORSION DYSTONIA
128230|DYSTONIA PROGRESSIVE WITH DIURNAL VARIATION
129500|ECTODERMAL DYSPLASIA HIDROTIC
130000|EHLERS-DANLOS SYNDROME TYPE 1
130050|EHLERS-DANLOS SYNDROME TYPE IV
130650|BECKWITH-WIEDEMANN SYNDROME
131370|GLYCOGENOSIS TYPE XIII
131750|EPIDERMOLYSIS BULLOSA DYSTROPHICA PASINI TYPE
131760|EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
131800|EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
131850|EPIDERMOLYSIS BULLOSA PRETIBIAL
131900|EPIDERMOLYSIS BULLOSA KOBNER TYPE
132090|EPILEPSY BENIGN OCCIPITAL
132100|EPILEPSY PHOTOGENIC
133200|ERYTHROKERATODERMIA VARIABILIS
133450|EWING SARCOMA
135100|FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
135290|DESMOID DISEASE
135700|FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1
137580|DYSTROPHIA MYOTONICA 1
137580|GILLES DE LA TOURETTE SYNDROME; GTS
137750|PRIMARY OPEN ANGLE GLAUCOMA
141900|HEMOGLOBIN--BETA LOCUS; HBB
142680|PERIODIC FEVER, FAMILIAL (UNDEFINED)
143100|HUNTINGTON DISEASE
143100|HUNTINGTON DISEASE (UNDEFINED)
143100|HUNTINGTON DISEASE; HD
144200|PALMOPLANTAR KERATODERMA VORNER TYPE
145600|FRAGILE X SYNDROME; FRAXA
145600|MALIGNANT HYPERTHERMIA
145600|MALIGNANT HYPERTHERMIA;MH
145600|SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 1
145900|HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
146590|ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE
146700|ICHTHYOSIS VULGARIS
146750| ICHTHYOSIS, LAMELLAR
146750|ICHTHYOSIS LAMELLAR , AUTOSOMAL DOMINANT FORM
146800|ICHTHYOSIFORM ERYTHRODERMA, BULLOUS
146800|ICHTHYOSIS BULLOUS TYPE
147421|INCLUSION BODY MYOSITIS
148000|KAPOSI SARCOMA
148210|KERATITIS ICHTHYOSIS DEAFNESS SYNDROME
148360|AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA
148600|KERATOSIS PALMOPLANTARIS PAPULOSA
150230|LANGER-GIEDION SYNDROME
150330|LYPODYSTROPHY WITH LAMIN A/C MUTATION
150800|LEIOMYOMA OF SKIN
151001|LENTIGINOSIS
151800|LIPOMATOSIS, FAMILIAL BENIGN CERVICAL
151900|LIPOMATOSIS MULTIPLE
151900|MULTIPLE LIPOMATOSIS;LMS
152460|LOBULAR GLOMERULOPATHY FAMILIAL
152700|SYSTEMIC LUPUS ERYTHEMATOSUS
153640|FECHTENER SYNDROME
153700|MACULAR DYSTROPHY, VITELLIFORM
154275|SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 2
154276|SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 3
154500|TREACHER COLLINS-FRANCESCHETTI SYNDROME
154700|MARFAN SYNDROME
154700|MARFAN SYNDROME; MFS
154700|MARFAN'S SYNDROME, TYPE 1, FIBRILLINE-1 RELATED
154850|HYPERTROPHY OF MASTICATORY MUSCLES
156225|MEROSINOPATHY;LAMA2
157550|MINICORE MYOPATHY
157900|MOEBIUS SYNDROME
158810|BETHLEM MYOPATHY
158810|MYOPATHY BENIGN CONGENITAL WITH CONTRACTURES
158900|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
158900|FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
158900|FACIO-SCAPULO-HUMERAL MUSCULAR DYSTROPHY; FSHD1
158900|FACIO-SCAPULO-HUMERAL, FSHD1
158900|FACIO-SCAPULO-HUMERAL;FSHD1A
159001|LAMINOPATHY; LMNA
159001|LGMD1B, LMNA
159001|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
160150|MYOPATHY, CENTRONUCLEAR (UNDEFINED)
160300|MYOPATHY DISTAL
160500|MYOPATHY DISTAL 1
160500|WELANDER DISEASE
160565|MYOPATHY, TUBULAR AGGEGATES
160565|TUBULAR AGGREGATES
160750|FAMILIAL IDIOPATHIC INFLAMMATORY MYOPATHY
160800|DYSTROPHIA MYOTONICA; AUTOSOMAL DOMINANT; THOMSEN DISEASE
160800|MYOTONIA CONGENITA- THOMSEN DISEASE
160800|THOMSEN BECKER DISEASE CLCN1 CHANNEL
160800|THOMSEN BECKET DISEASE CLCN1 CHANNEL
160800|THOMSEN DISEASE;TD
160900|DYSTROPHIA MYOTONICA
160900|DYSTROPHIA MYOTONICA (UNDEFINED)
160900|DYSTROPHIA MYOTONICA 1
160900|DYSTROPHIA MYOTONICA 1 (DEFINED)
160900|GILLES DE LA TOURETTE SYNDROME; GTS
160900|MYOTONIC DYSTROPHY 1 (STEINERT DISEASE)
160900|MYOTONIC DYSTROPHY, STEINERT, DM1
160900|MYOTONIC DYSTROPHY;DM1
161800|NEMALIN MYOPATHY
161800|NEMALINE MYOPATHY
161800|NEMALINE MYOPATHY 3; NEM3
161800|NEMALINE MYOPATHY 3; NEM3 (DEFINED)
161800|NEMALINE MYOPATHY 3; NEM3 (UNDEFINED)
162100|BRACHIAL PLEXUS NEUROPATHY, HEREDITARY AMYOTROPHY
162200|NEUROFIBROMATOSIS
162200|NEUROFIBROMATOSIS 1
162200|NEUROFIBROMATOSIS, TYPE I; NF1
162500|HNPP
162500|NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP (DEFINED)
162500|NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP (UNDEFINED)
162500|TOMACULOUS NEUROPATHY
164210|OCULOAURICULOVERTEBRAL DYSPLASIA-GOLDENHAR SYNDROME
164300|OCULO-PHARYNGEAL
164300|OCULO-PHARYNGEAL DYSTROPHY
164300|OCULOPHARYNGEAL MD, OPMD
164300|OCULOPHARYNGEAL MUSCULAR DYSTROPHY
164300|OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
164300|OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD (DEFINED)
164300|OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD (UNDEFINED)
164300|OCULO-PHARYNGEAL;OPMD
164400|SPINOCEREBELLAR ATAXIA
164400|SPINOCEREBELLAR ATAXIA 1
165500|OPTIC ATROPHY 1; OPA1 (UNDEFINED)
165500|OPTIC ATROPHY; OPA1
166710|OSTEOPOROSIS
167200|PACHYONYCHIA CONGENITA TYPE 1
167210|PACHYONYCHIA CONGENITA? JACKSON-LAMLER TYPE
168000|PARAGANGLIOMAS 1
168300|CONGENITAL PARAMYOTONIA SCN4A
168600|PARKINSON DISEASE; PD
170400|CHANNELLOPATHIES
170400|HYPOKALEMIC PERIODIC PARALYSIS
170400|HYPOKALIEMIC PERIODIC PARALYSIS
170500|HYPERKALEMIC PERIODIC PARALYSIS
173200|PITYRIASIS RUBRA PILARIS
173650|KINDLER SYNDROME
173900|POLYCISTIC KIDNEY; AUTOSOMAL DOMINANT
173900|POLYCYSTIC KIDNEYS (UNDEFINED)
174763|MITOCHONDRIAL DNA DEPLETION SYNDROME, POLG1
175100|ADENOMATOUS POLYPOSIS OF THE COLON
175100|ADENOMATOUS POLYPOSIS OF THE COLON; APC
175700|GREIG SYNDROME
175850|POROKERATOSIS PLANTARIS? PALMARIS ET DISSEMINATA
176100|PROPHYRIA CUTANEA TARDA
176270|PRADER-WILLI SYNDROME; PWS
176270|PRADER-WILLI-SYNDROME
176270|PRADER-WILLY SYNDROME (PWS) (UNDEFINED)
176670|HUTCHINSON-GILFORD PROGERIA
176920|PROTEUS SYNDROME
177000|PROTOPORPHYRIA ERYTHROPOIETIC
177850|PSEUDOXANTOMA ELASTICUM
177900|PSORIASIS
179850|RETICULAR PIGMENTED ANOMALY OF FLEXURES
180200|RETINOBLASTOMA
180200|RETINOBLASTOMA RB1 (UNDEFINED)
180200|RETINOBLASTOMA; RB1
180849|RUBINSTEIN-TAYBI SYNDROME
181000|SARCOIDOSIS
181350|EMERY-DREIFUS MUSCULAR DYSTROPHY
181350|EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
181400|AMYOTROPHY SCAPULOPERONEAL
181500|SCHIZOPHRENIA
181750|SCLERODERMA
182125|SEPIAPTERIN REDUCTASE; SPR
182290|SMITH-MAGENIS SYNDROME
182600|SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A,
182601|SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG4
182601|SPASTICA PARAPLEGIA, SPG4
182980|SPINAL MUSCULAR ATROPHY PROXIMAL
183600|SPLIT-HAND/FOOT DEFORMITY 1
184500|STEATOCYSTOMA MULTIPLEX
185300|STURGE-WEBER SYNDROME ( UNDEFINED)
186600|MULTIPLE SYRINGOMAS
186700|SYRINGOMYELIA
188400|DIGEORGE SYNDROME
188580|THYROTOXIC PERIODIC PARALYSIS
190345|TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC
190685|DOWN?S SYNDROME (UNDEFINED)
191100|TUBEROUS SCLEROSIS
191100|TUBEROUS SCLEROSIS (UNDEFINED)
191100|TUBEROUS SCLEROSIS; TS
191900|MUCKLE-WELLS SYNDROME
192600|CARDIOMYOPATHY FAMILIAL HYPERTROPHIC
192600|HYPERTROPHIC CARDIOMYOPATHY
193200|VITILIGO
193300|VON HIPPEL-LINDAU SYNDROME
193700|FREEMAN-SHELDON SYNDROME
193700|FRREMAN SHELDOM SYNDROME
194050|WILLIAMS-BEUREN SYNDROME
194070|NEPHROBLASTOMA
194190|WOLF-HIRSCHHORN SYNDROME
194300|WOOLLY HAIR SYNDROME AUTOSOMAL DOMINANT
200100|ABETALIPOPROTEINEMIA
201100|ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY
201200|ACROGERIA
201450|MCAD DEFICIENCY
201460|LCAD DEFICIENCY
202400|HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED
204000|LEBER CONGENITAL AMAUROSIS
204200|BATTEN DISEASE; UNDEFINED
204500|CEROID LIPOFUSCINOSIS CLN2 (DEFINED)
204500|JANSKY-BIELSCHOWSKY DISEASE
208150|PENA-SHOKEIR SYN DROME
208230|ARTHROPATHY PROGRESSIVE PSEUDORHUMATOID OF CHILDHOOD
208500|ASPHYXIATING THORACIC DYSTROPHY
210900|BLOOM SYNDROME
211390|SABINAS BRITTLE HAIR SYNDROME
211500|BULBAR PALSY PROGRESSIVE OF CHILDHOOD
212160|CARNITINE DEFICIENCY
212800|CEREBELLAR ATAXIA
212840|CEREBELLAR ATAXIA
213300|JOUBERT SYNDROME
214400|CHARCOT-MARIE-TOOTH DISEASE TYPE 4A
214500|CHEDIAK-HIGASHI SYNDROME
216400|COCKAYNE SUNDROME
216550|COHEN SYNDROME
217200|CONVULSIVE DISORDER WITH ORENATAL OR EARLY ONSET
218040|COSTELLO SYNDROME
219700|CYSTIC FIBROSIS
219700|CYSTIC FIBROSIS; CF
220110|COX DEFECT
220200|DANDY-WALKER SYNDROME
222100|DIABETES MELLITUS INSULIN-DEPENDENT
222300|WOLFRAM SYNDROME
223900|NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE III
224900|ECTODERMAL DYSPLASIA ANHIDROTIC
225750|AICARDI-GOUTIERES SYNDROME
225750|AICARDI-GOUTIERES-SYNDROME
226400|EPIDERMODYSPLASIA VERRUCIFORMIS
226450|EPIDERMOLYSIS BULLOSA INVERSA DYSTROPHICA
226600|EPIDERMOLYSIS BULLOSA DYSTROPHICA HALLOREAU-SIEMENS TYPE
226650|EPIDERMOLYSIS BULLOSA GENERALIZED ATROPHIC BENIGN
227650|FANCONI ANEMIA
227810|FANCONI-BICKEL SYNDROME
229300|FRIEDREICH ATAXIA
229300|FRIEDREICH ATAXIA (UNDEFINED)
229300|FRIEDREICH ATAXIA 1
229300|FRIEDREICH ATAXIA 1, FRDA
229300|FRIEDREICH ATAXIA; FXA
229300|FRIEDREICH'S ATAXIA
229300|FRIEDRICH ATAXIA
230500|GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
231000|GAUCHER DISEASE, TYPE III
231070|GERODERMA OSTEODYSPLASTICA
231680|ETFDH DEFICIENCY (COENZYME Q10 MYOPATHY)
232300|ACID MALTASE DEFICIENCY
232300|GLYCOGEN STORAGE DISEASE II
232300|GLYCOGENOSIS TYPE II
232300|GLYCOGENOSIS TYPE II, INCLUDING POMPE
232300|GLYCOGENOSIS TYPE II, POMPE
232400|GLYCOGEN STORAGE DISEASE III
232400|GLYCOGENOSIS TYPE III
232500|GLYCOGEN STORAGE DISEASE IV
232500|GLYCOGENOSIS TYPE IV
232500|GLYCOGENOSIS TYPE X
232600|GLYCOGEN STORAGE DISEASE V
232600|GLYCOGENOSIS TYPE V, MC ARDLE
232600|MC ARDLE DISEASE
232800|GLYCOGENOSIS TYPE VII
236200|HOMOCYSTINURIA
236670|WALKER-WARBURG SYNDROME
240400|HYPOASCORBEMIA
242100|CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
242100|ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS
242300|ICHTHYOSIS LAMELLAR 1, COLLODION BABY
242500|ICHTHYOSIS CONGENITA HARLEQUIN FETUS TYPE
243180|INTESTINAL PSEUDOOBSTRUCTION DISEASE
244200|KALLMANN SYNDROME 3
245000|PAPILLON-LEFEVRE SYNDROME
245150|KEUTEL SYNDROME
245800|LAURENCE-MOON OR BARDET-BIEDL SYNDROME
245800|LAURENCE-MOON SYNDROME
247200|LYSSENCEPHALIA (MDLS) (UNDEFINED)
248300|MAL DE MELEDA
248700|
248700|MARDEN-WALKER SYNDROME
248700|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
248800|MARINESCO-SJOGREN SYNDROME
248880|CCFDN, MARINESCO-SJOERGENSEN SYNDROME
249100|FAMILIAL MEDITERRANEAN FEVER
249100|FAMILIAL MEDITERRANEAN FEVER; FMF
250100|METACHROMATIC LEUKODYSTROPHY
251200|MICROCEPHALY
251880|MITOCHONDRIAL DNA DEPLETION SYNDROME; HEPATOCEREBRAL FORM
251900|MITOCHONDRIAL DISEASES
251900|MITOCHONDRIAL MYOPATHY
253280|MUSCLE-EYE-BRAIN DISEASE
253300|SPINAL MUSCULAR ATROPHY (DEFINED)
253300|SPINAL MUSCULAR ATROPHY (UNDEFINED)
253300|SPINAL MUSCULAR ATROPHY 1
253300|SPINAL MUSCULAR ATROPHY, TYPE I, WERDNIG-HOFFMAN DISEASE
253300|SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
253300|WERDNIG-HOFFMANN; SMA1
253400|KUGELBERG-WELANDER;SMA3
253400|SPINAL MUSCULAR ATROPHY, TYPE III, KUGELBERG-WELANDER DISEASE
253400|SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
253400|SPINAL MUSCULAR ATROPHY, TYPE II-III; SMA2-3
253550|SPINAL MUSCULAR ATROPHY, SMA-1,2,3
253550|SPINAL MUSCULAR ATROPHY, TYPE II, INTERMEDIATE TYPE
253550|WERDNIG-HOFFMANN; SMA2
253550|WERDNIG-HOFFMANN;SMA1, SMA2
253600| LGMD2A LGMD2C (DEFINED)
253600|CALPAINOPATHY
253600|CALPAINOPATHY;LGMD2A
253600|LGMD (UNDEFINED)
253600|LGMD2A, CALPAINOPATHY
253600|MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 2A
253600|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE
253600|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
253600|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; CALPAINOPATHY
253601|DISFERLINOPATHY
253601|DISFERLINOPATHY;LGMD2B
253601|LGMD2B, DYSFERLINOPATHY
253601|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
253700|GAMMA-SARCOGLYCANOPATHY
253700|GAMMA-SARCOGLYCANOPATHY; LGMD2C
253700|LGMD2C, GAMMA-SARCOGLYCANOPATHY
253700|LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2C (LGMD2C), GAMMA SARCO-GLYCAN RELATED
253700|MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 2C
253700|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
253800|CONGENITAL MUSCULAR DYSTROPHY
254090|ULLRICH CONGENITAL MUSCULAR DYSTROPHY
254090|ULLRICH CONGENITAL MUSCULAR DYSTROPHY, COLVI RELATED
254200|MYASTHENIA GRAVIS
254210|CONGENITAL MYASTENIA
254780|MYOCLONIC EPILEPSY OF LAFORA
254800|EPILEPSY PROGRESSIVE MYOCLONIC
254800|MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
255100|LIPID STORAGE MYOPATHY
255110|CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
255110|CPT DEFICIENCY
255200|CENTRONUCLEAR MYOPATHY
255310|FIBER TYPE DISPROPORTION
255310|MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
255320|MINICORE DISEASE
255320|MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (UNDEFINED)
255320|MULTIMINICORE DISEASE
255320|MULTIMINICORE MYOPATHY
255700|MYOTONIA CONGENITA, AUTOSOMAL-RECESSIVE
255800|CHONDRODYSTROPHIC MYOTONIA, SCHWARTZ-JAMPEL SYNDROME
255800|SCHWARTZ-JAMPEL SYNDROME
256000|LEIGH SYNDROME
256000|LEIGH SYNDROME; LS
256030|NEMALINE MYOPATHY
256030|NEMALINE MYOPATHY; NEM2
256300|FINNISH NEPHROTIC SYNDROME
256500|NETHERTON SYNDROME
256600|NEUROAXONAL DYSTROPHY INFANTILE
256730|CEROID LIPOFUSCINOSIS (UNDEFINED) CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9
256730|CEROID LIPOFUSCINOSIS NEURONAL 1
256850|GIANT AXONAL NEUROPATHY 1
258100|OGUCHI DISEASE
259250|OSTEODYSPLASIA FAMILIAL
259775|LETHAL OSTEOSCLEROTIC BONE DYSPLASIA, RAINE SYNDROME
260400|SHWACHMAN-DIAMOND SYNDROME (UNDEFINED)
260400|SHWACHMAN-DIAMOND SYNDROME; SDS
261540|PETERS-PLUS SYNDROME
261630|PHENYLKETONURIA II
261670|GLYCOGENOSIS TYPE X
262500|LARON SYNDROME
263570|POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD
263700|CONGENITAL ERYTHROPOIETIC PORPHYRIA
265000|ESCOBAR SYNDROME
266100|EPILEPSY PYRIDOXINE-DEPENDENT
266500|REFSUM DISEASE
267750|KNOBLOCH SYNDROME
268000|RETINITIS PIGMENTOSA
268000|RETINITIS PIGMENTOSA; RP (UNDEFINED)
268300|ROBERTS SYNDROME
268400|ROTHMUND-THOMSON SYNDROME
269160|SCHIZENCEPHALY
269500|SCLEROSTEOSIS
269920|INFANTILE SIALIC ACID STORAGE DISORDER
270100|SITUS INVERSUS VISCERUM
270200|SJOGREN-LARSSON SYNDROME
270300|SKIN PEELING? FAMILIAL CONTINUOUS
270550|SPASTIC ATAXIA
270550|SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE
270550|SPASTIC ATAXIA; SACS
271900|CANAVAN DISEASE
272800|TAY-SACHS DISEASE
275630|TRIGLYCERIDE STORAGE DISEASE
276900|USHER SYNDROME TYPE 1A
276901|USHER SYNDROME TYPE 2A
277900|WILSON DISEASE
278700|XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A
278730|XERODERMA PIGMENTOSUM
300000|OPITZ SYNDROME
300100|ADRENOLEUKODYSTROPHY
300100|ADRENOLEUKODYSTROPHY; ALD (UNDEFINED)
300121|DOUBLECORTIN
300257|DANON DISEASE; LAMP2
300257|GLYCOGEN STORAGE DISEASE IIB
300257|GLYCOGENOSIS TYPE IIB, DANON
300322|LESCH NYAN SYNDROME
300376|BECKER DYSTROPHY, BMD
300376|MUSCULAR DYSTROPHY BECKER TYPE
300376|MUSCULAR DYSTROPHY, BECKER TYPE; BMD
300376|MUSCULAR DYSTROPHY, BECKER TYPE; BMD CARRIERS
300500|ALBINISM OCULAR TYPE 1
301000|WISKOTT-ALDRICH SYNDROME
301220|PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
301845|BAZEX SYNDROME
302045|CHARCOT-MARIE-TOOTH; CMT + DEAFNESS
302045|X-L DILATED CARDIOMYOPATHIES
302500|CEREBELLAR ATAXIA 2
303100|CHOROIDEREMIA
304020|CONE-ROD DYSTROPHY, X-LINKED
305450|FG SYNDROME
305600|GOLTZ SYNDROME
305900|G6PD DEFICIENCY
307800|HYPOPHOSPHATEMIA X-LINKED
308000|LESCH-NYHAN SYNDROME (UNDEFINED)
308100|ICHTHYOSIS X-LINKED
308205|ICHTHYOSIS FOLLICULARIS ATRICHIA AND PHOTOPHOBIA SYNDROME
308240|LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (UNDEFINED)
308350|INFANTILE SPASM SYNDROME- WEST SYNDROME
308370|INFERTILE MALE SYNDROME
308800|KERATOSIS FOLLICULARIS SPINULOSA DECALVANS
309400|MENKES DISEASE
309550|FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1 (DEFINED)
309550|FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1 (UNDEFINED)
309550|FRAGILE X SYNDROME
309900|HUNTER SYNDROME
310100|BECKER DYSTROPHY;BMD
310100|BMD CARRIER
310100|MUSCULAR DYSTROPHY, BECKER TYPE; BMD
310200|DMD CARRIER
310200|DMD/BMD CARRIER
310200|DMD/BMD CARRIERS
310200|DUCHENNE DYSTROPHY, DMD
310200|DUCHENNE DYSTROPHY;DMD
310200|DUCHENNE MUSCULAR DYSTROPHY
310200|DUCHENNE MUSCULAR DYSTROPHY; DMD
310200|DUCHENNE/BECKER DYSTROPHY
310200|DUCHENNE/BECKER MUSCULAR DYSTROPHY (DEFINED)
310200|DUCHENNE/BECKER MUSCULAR DYSTROPHY(UNDEFINED)
310200|MUSCULAR DYSTROPHY DUCHENNE TYPE
310200|MUSCULAR DYSTROPHY, DUCHENNE TYPE, DMD
310200|MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
310200|MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD CARRIERS
310300|EDMD X-LINKED
310300|EMERY-DREIFUSS MUSCULAR DYSTROPHY, AD-LINKED; EDMD; LMNA (DEFINED)
310300|EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD (UNDEFINED)
310300|EMERY-DREIFUSS MUSCULAR DYSTROPHY,X-LINKED; EDMD1
310400|MYOTUBULAR MYOPATHY
310400|MYOTUBULAR MYOPATHY 1; MTM1
310400|MYOTUBULAR MYOPATHY, MTMX
310400|MYOTUBULAR MYOPATHY, X-LINKED; MTMX
310400|MYOTUBULAR MYOPATHY; MTM1
310440|MYOPATHY WITH EXCESSIVE AUTOPHAGY
310600|NORRIE DISEASE; NDP (DEFINED)
311770|PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
311770|PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, INCLUDED
312080|PELIZAEUS-MERZBACHER DISEASE
312080|PELIZAEUS-MERZBACHER SYNDROME (PMD) (UNDEFINED)
312700|RETINOSCHISIS 1
312750|RETT SYNDROME
312750|RETT SYNDROME (UNDEFINED)
312910|SPASTICUS PARAPARESIS
313200|KENNEDY DISEASE CARRIERS; SBMA
313200|KENNEDY DISEASE; SBMA
313200|SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
313200|SPINAL BULBAR ATROPHY, KENNEDY
313200|SPINAL BULBAR MUSCULAR ATROPHY,
313200|SPINAL BULBAR MUSCULAR ATROPHY, KENNEDY
415000|AZF (SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED) (UNDEFINED)
530000|CPEO KEARNS-SAYRE SYNDROME (DEFINED)
530000|CPEO KEARNS-SAYRE SYNDROME (UNDEFINED)
530000|KEARNS-SAYRE SYNDROME; KSS
530000|PEO, KSS
535000|LEBER
535000|LEBER OPTIC ATROPHY
535000|LHON-LEBER OPTIC ATROPHY (DEFINED)
535000|LHON-LEBER OPTIC ATROPHY (UNDEFINED)
540000|MELAS
540000|MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS
540000|MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS, MERRF, LEIGH (DEFINED)
540000|MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS, MERRF, LEIGH, COX (UNDEFINED)
545000|MERRF
545000|MYOCLONIC EPILEPSY (UNDEFINED)
545000|MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF
551500|NARP
551500|NEUROPATHY ATAXIA AND RETINITIS PIGMENTOSA
600117|DYSPHASIA FAMILIAL DEVELOPMENTAL
600467|SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 4
600513|EPILEPSY NOCTURNAL FRONTAL LOBE
600514|REELIN-DEFICIENCY
600536|CMD; ITGA7
600546|INTRAUTERINE GROWTH RETARDATION- SECKEL SYNDROME
600669|EPILEPSY IDIOPATHIC GENERALIZED
600737|INCLUSION BODY MYOPATHY 2
600737|INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
600899|LGMD2D, ALPHA-SARCOGLYCANOPATHY
600962|PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC UNNA-THOST DISEASE
601001|EPIDERMOLYSIS BULLOSA SIMPLEX
601003|BRODY MYOPATHY
601097|HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HNPP
601144|BRUGADA SYNDROME
601152|PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
601287|DELTA-SARCOGLYCANOPATHY
601287|DELTA-SARCOGLYCANOPATHY; LGMD2F
601287|LGMD2F, DELTA-SARCOGLYCANOPATHY
601419|MYOFIBRILLAR MYOPATHY, DESMIN-RELATED
601419|MYOPATHY DESMIN RELATED
601462|CONGENITAL MYASTHENIC SYNDROME
601559|STUVE-WIEDEMANN SYNDROME
601606|FAMILIAL TRICHOEPITHELIOMATA
601675|TRICHOTHIODYSTROPHY PHOTOSENSITIVE
601764|CONVULSIONS BENIGN FAMILIAL INFANTILE
601887|SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA 5
601952|KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
602025|OBESITY
602036|ERYTHROKERATODERMIA PROGRESSIVE SYMMETRIC
602668|DYSTROPHIA MYOTONICA 2; DM2
602668|MYOTONIC DYSTROPHY TYPE 2, PROMM, DM2
602668|MYOTONIC DYSTROPHY; DM2
602668|PROXIMAL MYOTONIC MYOPATHY
602771|RIGID SPINE MUSCULAR DYSTROPHY
602771|RIGID SPINE MUSCULAR DYSTROPHY (UNDEFINED)
602783|SPASTIC PARAPARESIS (PARAPLEGIN DEF.)
602783|SPASTIC PARAPARESIS (PARAPLEGIN. DEF.)
603041|MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
604004|MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
604117|VOHWINKEL SYNDROME
604168|CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN
604233|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES
604286|BETA-SARCOGLYCANOPATHY
604286|BETA-SARCOGLYCANOPATHY; LGMD2E
604286|LGMD2E, BETA-SARCOGLYCANOPATHY
604320|SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS
604320|SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1 (DEFINED)
604377|CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY
604777|LAMELLAR ICHTHYOSIS TYPE 3
604856|LANGERHANS CELL HISTIOCYTOSIS
605275|NOONAN SYNDROME 2
605479|INTRAEPATIC CHOLESTASIS 2
606002|SPINOCEREBELLAR ATAXIA, AUTOSOMAL-RECESSIVE (SCAR1)
606072|RIPPLING MUSCLE DISEASE
606408|EHLERS-DANLOS LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY
606612|CMD, MUSCULAR DYSTROPHY, CONGENITAL (UNDEFINED)
606612|CONGENITAL DYSTROPHY. FKRP
606822|CONGENITAL DYSTROPHY. POMGNT1
606904|JUVENILE MYOCLONIC EPILEPSY
607014|HURLER SYNDROME
607155|LGMD2I, FKRP
607155|LIMB-GIRDLE DYSTROPHY 2I;LGMD2I
607155|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
607208|SEVERE MYOCLONIC EPILEPSY OF INFANCY
607208|SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI (DEFINED)
607208|SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI (UNDEFINED)
607259|SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
607259|SPASTIC PARAPLEGIA AD/ AR
607379|NEUROFIBROMIN 2
607423|CONGENITAL DYSTROPHY. POMT1
607426|COQ10 DEFECT
607432|LISSENCEPHALY
607439|CONGENITAL DYSTROPHY. POMT2
607631|EPILEPSY JUVENILE ABSENCE
607685|HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
607801|CAVEOLINOPATHY
607801|CAVEOLINOPATHY;LGMD1C
607801|LGMD1C, CAVEOLINOPATHY
607801|MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 1C
607801|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
607855|CONGENITAL MUSCULAR DYSTROPHY, MEROSIN DEFICIENT
607855|MEROSINOPATHY, LAMA2
607855|MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
608056|LIPOATROPHY WITH DIABETES HEPATIC STEATOSIS
608099|ALPHA-SARCOGLYCANOPATHY
608099|ALPHA-SARCOGLYCANOPATHY; LGMD2D
608099|LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2D (LGMD2D), ALPHA SARCO-GLYCAN RELATED
608099|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
608099|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; ALPHA- SARCOGLYCANOP
608099|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
608099|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
608149|UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 (UNDEFINED)
608451|MITOCHONDRIAL DNA DEPLETION SYNDROME, ETHE1
608710|WEGENER GRANULOMATOSIS
608931|CMS - MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED (DEFINED)
608931|CMS - MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED (UNDEFINED)
609200|MYOFIBRILLAR MYOPATHY, MYOTILIN-RELATED
609284|NEMALINE MYOPATHY 1; NEM1
609560|MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
611615|DILATED CARDIOMYOPATHY
OR
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