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Amyotrophic lateral sclerosis
16 OMIM references -
26 associated genes
589 connected diseases
No signs/symptoms info
Disease Type of connection
Frontotemporal dementia with motor neuron disease
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Extraskeletal myxoid chondrosarcoma
Juvenile amyotrophic lateral sclerosis
Adult-onset distal myopathy due to VCP mutation
Spastic paraplegia - Paget disease of bone
Myxoid / round cell liposarcoma
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Distal hereditary motor neuropathy type 7
Perry syndrome
Charcot-Marie-Tooth disease type 4J
Primary lateral sclerosis
Spinocerebellar ataxia type 2
Yunis-Varon syndrome
Giant cell glioblastoma
Young adult-onset Parkinsonism
Familial isolated dilated cardiomyopathy
Retinitis pigmentosa
Pseudohypoaldosteronism type 2E
Familial pancreatic carcinoma
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Precursor B-cell acute lymphoblastic leukemia
Translocation renal cell carcinoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Split hand-split foot malformation
Autosomal dominant nonsyndromic intellectual deficit
Hereditary breast and ovarian cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Li-Fraumeni syndrome
B-cell chronic lymphocytic leukemia
Blackfan-Diamond anemia
Essential thrombocythemia
Acute promyelocytic leukemia
Estrogen resistance syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Adrenocortical carcinoma
Papilloma of choroid plexus
X-linked non-syndromic intellectual deficit
Chuvash erythrocytosis
Von Hippel-Lindau disease
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Extraskeletal Ewing sarcoma
Fibronectin glomerulopathy
Common variable immunodeficiency
Familial prostate cancer
Follicular lymphoma
Pulverulent cataract
Cerebellar ataxia - hypogonadism
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Cowden syndrome
Ewing sarcoma
Lethal acantholytic epidermolysis bullosa
Papillary or follicular thyroid carcinoma
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
17q11 microdeletion syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Cataract - intellectual deficit - hypogonadism
Glycogen storage disease due to liver phosphorylase kinase deficiency
Micro syndrome
Huntington disease
Juvenile Huntington disease
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Childhood-onset nemaline myopathy
Distal 22q11.2 microdeletion syndrome
Typical nemaline myopathy
Cystic fibrosis
Left ventricular noncompaction
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Intravascular large B-cell lymphoma
Pediatric systemic lupus erythematosus
Noonan syndrome
Berardinelli-Seip congenital lipodystrophy
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Proteus syndrome
Idiopathic pulmonary fibrosis
Multiple endocrine neoplasia type 1
Desmoplastic small round cell tumor
Melanoma of soft part
Muscular dystrophy, Selcen type
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Aicardi-Goutières syndrome
Cabezas syndrome
Chronic mucocutaneous candidiasis
Combined immunodeficiency due to STK4 deficiency
Craniometaphyseal dysplasia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial infantile bilateral striatal necrosis
Familial melanoma
Fanconi anemia
Hereditary nonpolyposis colon cancer
Hypoplastic left heart syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Oculodentodigital dysplasia
Syndactyly type 3
Weaver syndrome
Wolf-Hirschhorn syndrome
Omenn syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive centronuclear myopathy
Craniolenticulosutural dysplasia
Autosomal agammaglobulinemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Digitotalar dysmorphism
Familial isolated congenital asplenia
Sheldon-Hall syndrome
Spondylocarpotarsal synostosis
Congenital fiber-type disproportion myopathy
Cone rod dystrophy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Peripheral resistance to thyroid hormones
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Isolated NADH-CoQ reductase deficiency
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
22q11.2 deletion syndrome
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Herpetic encephalitis
Bardet-Biedl syndrome
Alveolar soft-part sarcoma
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
17p13.3 microduplication syndrome
Miller-Dieker syndrome
MODY syndrome
Pilocytic astrocytoma
Congenital bilateral absence of vas deferens
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Mitochondrial trifunctional protein deficiency
Heritable pulmonary arterial hypertension
Juvenile myelomonocytic leukemia
Spinocerebellar ataxia type 1
Lethal congenital contracture syndrome type 2
X-linked intellectual deficit with marfanoid habitus
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Familial partial lipodystrophy associated with PPARG mutations
Familial thoracic aortic aneurysm and aortic dissection
Uveal coloboma - cleft lip and palate - intellectual deficit
Classical progressive supranuclear palsy
Familial cylindromatosis
Familial multiple trichoepithelioma
Glucocorticoid resistance
LEOPARD syndrome
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Anaplastic ependymoma
Keratosis palmoplantaris striata
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Burkitt lymphoma
LIG4 syndrome
Angelman syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Spinocerebellar ataxia type 7
Oculopharyngeal muscular dystrophy
X-linked osteoporosis with fractures
3-phosphoglycerate dehydrogenase deficiency
Autosomal dominant macrothrombocytopenia
Constitutional mismatch repair deficiency syndrome
Dyschromatosis symmetrica hereditaria
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Goldberg-Shprintzen megacolon syndrome
Hypotrichosis simplex
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Muir-Torre syndrome
Naxos disease
Non-polyposis Turcot syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spinocerebellar ataxia type 36
Susceptibility to viral and mycobacterial infections
Adult-onset autosomal dominant leukodystrophy
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Autosomal recessive systemic lupus erythematosus
Distal myopathy with vocal cord weakness
Retinitis punctata albescens
Apolipoprotein A-I deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial renal amyloidosis due to Apolipoprotein AI variant
Hereditary proximal myopathy with early respiratory failure
Primary systemic amyloidosis
Tibial muscular dystrophy
Cap myopathy
Catecholaminergic polymorphic ventricular tachycardia
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Trismus - pseudocamptodactyly
Early infantile epileptic encephalopathy
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Syndromic multisystem autoimmune disease due to Itch deficiency
Aneurysm - osteoarthritis syndrome
2p21 microdeletion syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
Severe combined immunodeficiency due to LCK deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal dominant spastic ataxia 1
Autoimmune lymphoproliferative syndrome with recurrent infections
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Lissencephaly due to LIS1 mutation
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Subcortical band heterotopia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Congenital mesoblastic nephroma
Hyperinsulinism due to HNF4A deficiency
Microcephalic primordial dwarfism, Alazami type
Werner syndrome
Generalized resistance to thyroid hormone
Intrahepatic cholestasis of pregnancy
Selective pituitary resistance to thyroid hormone
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
Microcephaly - lymphedema - chorioretinopathy
Richieri Costa-Pereira syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Spinocerebellar ataxia type 17
MALT lymphoma
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Immunodeficiency by defective expression of HLA class 2
Hereditary hyperekplexia
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Methylmalonic acidemia with homocystinuria, type cblX
Charcot-Marie-Tooth disease type 4D
Homozygous familial hypercholesterolemia
1p36 deletion syndrome
Acute fatty liver of pregnancy
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive hypophosphatemic rickets
Bruck syndrome
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Familial glucocorticoid deficiency
Generalized arterial calcification of infancy
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Infantile onset spinocerebellar ataxia
Johanson-Blizzard syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Primary mediastinal large B-cell lymphoma
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Simpson-Golabi-Behmel syndrome
Autosomal recessive primary microcephaly
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
17q11.2 microduplication syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Giant cell arteritis
Granulomatosis with polyangiitis
Idiopathic hypereosinophilic syndrome
Kennedy disease
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Partial androgen insensitivity syndrome
Peripheral primitive neuroectodermal tumor
Watson syndrome
Atrial septal defect, ostium secundum type
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Miyoshi myopathy
Parkinsonian-pyramidal syndrome
3M syndrome
ALDH18A1-related De Barsy syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Adenylosuccinate lyase deficiency
Alobar holoprosencephaly
Alpha-1-antitrypsin deficiency
Alternating hemiplegia of childhood
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant hypocalcemia
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant secondary polycythemia
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 4
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive distal renal tubular acidosis with deafness
Autosomal recessive epidermolysis bullosa simplex
Bannayan-Riley-Ruvalcaba syndrome
Bartter syndrome with hypocalcemia
Behçet disease
Benign adult familial myoclonic epilepsy
Benign paroxysmal torticollis of infancy
Blau syndrome
Brugada syndrome
Bullous pemphigoid
CLN4A disease
CLN6 disease
CLOVE syndrome
Capillary malformation - arteriovenous malformation
Cardiofaciocutaneous syndrome
Charcot-Marie-Tooth disease type 4G
Chorioretinopathy, Birdshot type
Chronic myeloid leukemia
Chronic respiratory distress with surfactant metabolism deficiency
Combined deficiency of factor V and factor VIII
Congenital factor VII deficiency
Congenital pulmonary alveolar proteinosis
Congenital stationary night blindness
Cree leukoencephalopathy
Desquamative interstitial pneumonia
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 2
Endocrine-cerebro-osteodysplasia syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
FTH1-related iron overload
Familial afibrinogenemia
Familial congenital mirror movements
Familial dysfibrinogenemia
Familial hypocalciuric hypercalcemia type 1
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
Freeman-Sheldon syndrome
Fuchs endothelial corneal dystrophy
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Glycogen storage disease due to muscle beta-enolase deficiency
Gray platelet syndrome
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hereditary cerebral cavernous malformation
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 6
Hermansky-Pudlak syndrome type 7
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to INSR deficiency
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypotonia with lactic acidemia and hyperammonemia
Idiopathic CD4 lymphocytopenia
Immunodeficiency due to an early component of complement deficiency
Infant acute respiratory distress syndrome
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile-onset ascending hereditary spastic paralysis
Inflammatory myofibroblastic tumor
Insulin-resistance syndrome type A
Intellectual deficit, X-linked, Turner type
Intermittent hydrarthrosis
Isolated ATP synthase deficiency
Joubert syndrome with renal defect
Juvenile polyposis of infancy
Juvenile primary lateral sclerosis
Leber congenital amaurosis
Lhermitte-Duclos disease
Limited systemic sclerosis
Lissencephaly due to TUBA1A mutation
Lobar holoprosencephaly
MMEP syndrome
Macrocephaly-autism syndrome
Macrodactyly of fingers, unilateral
Maffucci syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Mucopolysaccharidosis type 4B
Multiple endocrine neoplasia type 4
Multiple paragangliomas associated with polycythemia
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Narcolepsy without cataplexy
Neonatal severe primary hyperparathyroidism
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nijmegen breakage syndrome-like disorder
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Pallister-Hall syndrome
Parkes Weber syndrome
Partial acquired lipodystrophy
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Phosphoenolpyruvate carboxykinase 1 deficiency
Pitt-Hopkins syndrome
Pontocerebellar hypoplasia type 1
Primary biliary cirrhosis
Primary sclerosing cholangitis
Proteus-like syndrome
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2C
Pyogenic bacterial infections due to MyD88 deficiency
Rabson-Mendenhall syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Semilobar holoprosencephaly
Senior-Loken syndrome
Septopreoptic holoprosencephaly
Severe early-onset axonal neuropathy due to MFN2 deficiency
Smith-Magenis syndrome
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 6
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Squamous cell carcinoma of head and neck
TRAPS syndrome
Thrombocytopenia - absent radius
Timothy syndrome
Triose phosphate-isomerase deficiency
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Waldenström macroglobulinemia
White sponge nevus
Williams syndrome
X-linked dystonia-parkinsonism
X-linked lymphoproliferative disease
Congenital myopathy with excess of thin filaments
Griscelli disease type 1
Griscelli disease type 3
Laron syndrome with immunodeficiency
Neuroectodermal melanolysosomal disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Severe early-onset axonal neuropathy due to NEFL deficiency
Fatal infantile hypertonic myofibrillar myopathy
Hereditary pheochromocytoma-paraganglioma
Isolated CoQ-cytochrome C reductase deficiency
Lissencephaly syndrome, Norman-Roberts type
Posterior polar cataract
Zonular cataract
Adult-onset foveomacular vitelliform dystrophy
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Budd-Chiari syndrome
Butterfly-shaped pigment dystrophy
Central areolar choroidal dystrophy
Familial thrombocytosis
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fundus albipunctatus
Myelofibrosis with myeloid metaplasia
Polycythemia vera
X-linked intellectual disability due to GRIA3 anomalies
Brachydactyly type A2
Brachydactyly type C
Congenital analbuminemia
Generalized juvenile polyposis / juvenile polyposis coli
Glycogen storage disease due to LAMP-2 deficiency
Hereditary hemorrhagic telangiectasia
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Myhre syndrome
Neonatal inflammatory skin and bowel disease
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
SHORT syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
Action myoclonus - renal failure syndrome
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
COFS syndrome
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Gaucher disease type 1
Intellectual deficit, X-linked, Nascimento type
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Leigh syndrome with leukodystrophy
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Neuralgic amyotrophy
Succinyl-CoA:3-ketoacid CoA transferase deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Unverricht-Lundborg disease
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Xeroderma pigmentosum complementation group D
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
16 OMIM references -
1 MeSH reference: D000690

No signs/symptoms info available.