Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... |
DECIPHER:29 |
Hereditary Liability to Pressure Palsies (HNPP) |
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Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Spinal Muscular Atrophy, Segmental |
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Abnormal anterior horn cell morphology |
OMIM:183020 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology |
OMIM:607641 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
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Basal cell carcinoma, Squamous cell carcinoma, Verrucae |
OMIM:618267 |
Primary Lateral Sclerosis, Adult, 1 |
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Abnormal upper motor neuron morphology |
OMIM:611637 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... |
OMIM:602433 |
Nut Midline Carcinoma |
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Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 23 |
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Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Disseminated Superficial Actinic Porokeratosis |
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Squamous cell carcinoma |
ORPHA:79152 |
Amyotrophic Lateral Sclerosis 11 |
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Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Squamous Cell Carcinoma, Head And Neck |
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Squamous cell carcinoma |
OMIM:275355 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Pneumonia, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squamous cell car... |
ORPHA:217390 |
Cheilitis Glandularis |
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Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:95434 |
Tumor Predisposition Syndrome 1 |
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Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... |
OMIM:614327 |
Hyperkeratosis Lenticularis Perstans |
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Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
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Abnormal lower motor neuron morphology |
OMIM:611067 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... |
ORPHA:158057 |
Juvenile Primary Lateral Sclerosis |
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Abnormal upper motor neuron morphology |
ORPHA:247604 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
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Squamous cell carcinoma |
OMIM:613736 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Primary Lateral Sclerosis |
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Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Schöpf-Schulz-Passarge Syndrome |
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Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Polyglucosan Body Neuropathy, Adult Form |
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Peripheral axonal neuropathy, Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
Xeroderma Pigmentosum Variant |
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Basal cell carcinoma, Melanoma, Squamous cell carcinoma |
ORPHA:90342 |
Primary Lateral Sclerosis, Juvenile |
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Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Punctate Palmoplantar Keratoderma Type 1 |
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Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... |
ORPHA:79501 |
Monomelic Amyotrophy |
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Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Schopf-Schulz-Passarge Syndrome |
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Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Recurrent Respiratory Papillomatosis |
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Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Squamous cell car... |
ORPHA:60032 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Paucity of anterior horn motor neurons, Peripheral axonal neuropathy, Abnormal anterior horn cell... |
OMIM:611890 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Xeroderma Pigmentosum, Complementation Group F |
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Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... |
OMIM:278760 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Axonal loss, Amyotrophic lateral sclerosis |
OMIM:300857 |
Spinal Muscular Atrophy, Type Ii |
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Degeneration of anterior horn cells |
OMIM:253550 |
Lung Cancer |
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Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Amyotrophic Lateral Sclerosis 19 |
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Amyotrophic lateral sclerosis |
OMIM:615515 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology |
OMIM:607225 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Motor axonal... |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
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Amyotrophic lateral sclerosis |
OMIM:617921 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
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Amyotrophic lateral sclerosis |
OMIM:205200 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology |
ORPHA:100070 |
Werner Syndrome |
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Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... |
ORPHA:902 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Amyotrophic lateral sclerosis |
OMIM:205250 |
Colorectal Cancer, Susceptibility To, 12 |
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Colorectal polyposis, Carcinoma |
OMIM:615083 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
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Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 1 |
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Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:105400 |
Li-Fraumeni Syndrome |
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Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Cutaneous Neuroendocrine Carcinoma |
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Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... |
ORPHA:79140 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination |
OMIM:221770 |
Amyotrophic Lateral Sclerosis 9 |
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Amyotrophic lateral sclerosis |
OMIM:611895 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... |
OMIM:606070 |
Necrobiosis Lipoidica |
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Squamous cell carcinoma |
ORPHA:542592 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:2590 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Glossopharyngeal Neuralgia |
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Schwannoma, Abnormal glossopharyngeal nerve morphology, Cranial nerve compression |
ORPHA:221098 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis |
OMIM:619141 |
Epidermodysplasia Verruciformis |
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Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Recurrent pneumonia, Recurrent sinusitis, Squamous cell carcinoma, Recurrent sinopulmonary infect... |
OMIM:243700 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:608030 |
Neurofibroma |
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Enlarged peripheral nerve, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neuro... |
ORPHA:252183 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
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Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Ichthyosis, Hystrix-Like, With Deafness |
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Squamous cell carcinoma |
OMIM:602540 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Oropharyngeal squamous cell carcinoma, Actinic keratosis, Breast carcinoma |
OMIM:614564 |
Xeroderma Pigmentosum, Variant Type |
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Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
Chromomycosis |
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Multiple cutaneous malignancies, Squamous cell carcinoma, Abnormal lung morphology |
ORPHA:182 |
Oral Submucous Fibrosis |
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Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology |
ORPHA:93941 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Benign Schwannoma |
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Peripheral schwannoma, Schwannoma, Vestibular schwannoma, Abnormal cranial nerve morphology, Scle... |
ORPHA:252164 |
Boucher-Neuhauser Syndrome |
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Abnormal upper motor neuron morphology |
OMIM:215470 |
Amyotrophic Lateral Sclerosis 18 |
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Amyotrophic lateral sclerosis |
OMIM:614808 |
Papillon-Lefèvre Syndrome |
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Neoplasm of the skin, Melanoma, Squamous cell carcinoma, Recurrent respiratory infections |
ORPHA:678 |
Tick-Borne Encephalitis |
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Myelitis, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abnormal... |
ORPHA:297 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons |
OMIM:253310 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
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Amyotrophic lateral sclerosis |
OMIM:617892 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Abnormal anterior horn cell morphology, Degeneration of anterior horn cells |
ORPHA:1145 |
Bilateral Polymicrogyria |
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Facial diplegia, Abnormal glossopharyngeal nerve morphology |
ORPHA:268940 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
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Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:613435 |
Arnold-Chiari Malformation Type I |
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Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Syringomyelia,... |
ORPHA:268882 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Delayed somatosensory central conduction time, Abnormal upper motor neuron morphology, Amyotrophi... |
OMIM:205100 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Emphysema, Squamous cell carcinoma of the skin, Myelodysplasia, Pulmonary fibrosis |
OMIM:620365 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Squamous cell carcinoma |
OMIM:618373 |
Dyskeratosis Congenita, X-Linked |
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Optic atrophy, Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cell carcinoma, ... |
OMIM:305000 |
Fanconi Anemia, Complementation Group P |
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Squamous cell carcinoma |
OMIM:613951 |
Bloom Syndrome |
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Recurrent upper respiratory tract infections, Lymphoma, Squamous cell carcinoma, Leukemia, Bronch... |
OMIM:210900 |
Machado-Joseph Disease Type 3 |
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Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Spinocerebellar tract degen... |
ORPHA:276244 |
Trichothiodystrophy 1, Photosensitive |
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Basal cell carcinoma, Squamous cell carcinoma |
OMIM:601675 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Squamous cell carcinoma |
OMIM:226600 |
Ciliary Dyskinesia, Primary, 6 |
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Recurrent sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein arms, Abnorm... |
OMIM:610852 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:612069 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
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Squamous cell carcinoma of the skin |
ORPHA:85112 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Squamous cell carcinoma |
OMIM:148210 |
Rothmund-Thomson Syndrome Type 1 |
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Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Leukemia... |
ORPHA:221016 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... |
ORPHA:2909 |
Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Squamous cell carcinoma |
ORPHA:33364 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Cutaneous melanoma, Decreased nerve conduction velocity, Squamous cell carcinoma o... |
OMIM:610651 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal respiratory m... |
ORPHA:922 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal sensory nerve conduction veloci... |
ORPHA:88628 |
Kid Syndrome |
|
Neoplasm of the skin, Trichilemmoma, Neoplasm of the tongue, Squamous cell carcinoma |
ORPHA:477 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
Rothmund-Thomson Syndrome, Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma |
OMIM:268400 |
Xeroderma Pigmentosum, Complementation Group C |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma |
OMIM:278720 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Optic atrophy, Motor axonal neuropathy |
OMIM:614298 |
Hereditary Acrokeratotic Poikiloderma |
|
Squamous cell carcinoma, Transitional cell carcinoma of the bladder |
ORPHA:2907 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Xeroderma Pigmentosum, Complementation Group E |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
OMIM:278740 |
Ciliary Dyskinesia, Primary, 10 |
|
Recurrent sinusitis, Abnormal respiratory motile cilium morphology |
OMIM:612518 |
Disabling Pansclerotic Morphea Of Childhood |
|
Squamous cell carcinoma of the skin |
OMIM:620443 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Recurrent upper respiratory tract infections, Esophageal c... |
ORPHA:391487 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Squamous cell carcinoma, Pneumothorax |
ORPHA:79404 |
Oculocutaneous Albinism Type 1B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:79434 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... |
ORPHA:168563 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Facial palsy, Decreased motor nerve conduction velocity, ... |
ORPHA:79139 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Abnormality of th... |
ORPHA:363618 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis |
OMIM:615911 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... |
OMIM:610755 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
Kindler Epidermolysis Bullosa |
|
Squamous cell carcinoma, Neoplasm of the urethra |
ORPHA:2908 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Optic atrophy, Melanoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Optic atrophy, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreat... |
ORPHA:71505 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:608627 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Myelodysplasia, Interstitial pneumonitis, Pulmonary fibrosis |
OMIM:127550 |
Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:79277 |
Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... |
ORPHA:1183 |
Dyskeratosis Congenita, Digenic |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin |
OMIM:620040 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Squamous cell carcinoma, Cutaneous melanoma |
ORPHA:79408 |
Oncogenic Osteomalacia |
|
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... |
ORPHA:352540 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Lambert-Eaton Myasthenic Syndrome |
|
Orthostatic hypotension due to autonomic dysfunction, Small cell lung carcinoma, Abnormal autonom... |
ORPHA:43393 |
Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis |
ORPHA:79430 |
Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Idiopathic Camptocormia |
|
Syringomyelia, Myelitis, Amyotrophic lateral sclerosis |
ORPHA:1320 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Squamous cell carcinoma of the skin |
ORPHA:79396 |