Porokeratosis

Dysostosis,Synostosis,Burn-Mckeown Syndrome,Phocomelia,Radioulnar Synostosis,Charcot-Marie-Tooth Disease X-Linked Recessive 4,Hereditary Hearing Loss And Deafness,Usher Syndrome, Type Iia,Cerebrocostomandibular Syndrome,Cleft Palate, Isolated,Mandibulofacial Dysostosis, Guion-Almeida Type,Ehlers-Danlos Syndrome, Classic Type, 1,Humeroradial Synostosis,Acrofacial Dysostosis Syndrome Of Rodriguez,Acrofacial Dysostosis,Acrofacial Dysostosis 1, Nager Type,Treacher Collins Syndrome 1,Postaxial Acrofacial Dysostosis

Acute Promyelocytic Leukemia,Carnitine-Acylcarnitine Translocase Deficiency

Amyotrophic Lateral Sclerosis 1,Feingold Syndrome 1,Intestinal Atresia,Pancreas, Annular,Vacterl Association,Gastrointestinal Defects And Immunodeficiency Syndrome,Pallister-Hall Syndrome,Microphthalmia, Syndromic 3,Anus, Imperforate

Articulation Disorder,Speech Disorder,Mucolipidosis,Tibial Neuropathy,Dyslexia,Tarsal Tunnel Syndrome,Vestibulocochlear Nerve Disease,Vestibular Neuronitis,Osteochondrosis,Mucopolysaccharidosis Iii,Mucopolysaccharidosis-Plus Syndrome,Gnptab-Related Disorders,Gm2-Gangliosidosis, Ab Variant,Gingival Hypertrophy,Disseminated Chorioretinitis,Benign Essential Hypertension,Mucolipidoses,Deficiency Anemia,46,Xy Sex Reversal 7,Osteogenesis Imperfecta, Type Vii,Scheuermann Disease,Autosomal Recessive Disease,Hurler Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2v,Her2-Receptor Positive Breast Cancer,Stuttering,Legg-Calve-Perthes Disease,Mucolipidosis Ii Alpha/Beta,Mucolipidosis Iii Alpha/Beta,Mucolipidosis Iii Gamma,Mucopolysaccharidosis, Type Iiia

Med23,Alazami Syndrome,Disease Of Mental Health,Coffin-Siris Syndrome 9,Kbg Syndrome,Isolated Growth Hormone Deficiency,Isolated Growth Hormone Deficiency, Type Ia

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Achalasia-Addisonianism-Alacrima Syndrome,Seminal Vesicle Tumor,Male Reproductive Organ Benign Neoplasm,Lethal Congenital Contracture Syndrome 1

Optic Nerve Disease,Ocular Hypertension,Hordeolum,Retinal Ischemia,Optic Nerve Hypoplasia, Bilateral

Retinitis Pigmentosa,Endometrial Stromal Sarcoma,Extraosseous Ewing Sarcoma,Clear Cell Sarcoma,Spindle Cell Sarcoma,Chondrosarcoma,Rhabdomyosarcoma 2,Sarcomatoid Basal Cell Carcinoma,Malignant Fibrous Histiocytoma,Melanoma,Rare Tumor,Cerebellar Angioblastoma,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Bladder Sarcoma,Melanoma Of Soft Tissue,Bone Epithelioid Hemangioma,Fibrous Histiocytoma,Peripheral Nervous System Neoplasm,Connective Tissue Cancer,Bone Sarcoma,Desmoplastic Small Round Cell Tumor,Constipation,Vulvar Sarcoma,Mucoepidermoid Carcinoma,Extraskeletal Mesenchymal Chondrosarcoma,Extraosseous Chondrosarcoma,Atypical Teratoid Rhabdoid Tumor,Astroblastoma,Intracranial Primitive Neuroectodermal Tumor,Neurofibromatosis, Type I,Sarcomatosis,Neuroblastoma,Myoepithelial Carcinoma,Cauda Equina Neoplasm,Childhood Malignant Schwannoma,Kidney Clear Cell Sarcoma,Middle Ear Carcinoma,Thymus Clear Cell Carcinoma,Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor,Essential Tremor,Central Nervous System Mesenchymal Non-Meningothelial Tumor,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Myoepithelioma,Endometrial Stromal Tumor,Sweat Gland Benign Neoplasm,Synovium Cancer,Small Intestinal Sarcoma,Bladder Leiomyoma,Extraskeletal Ewing Sarcoma,Lung Sarcoma,Endobronchial Lipoma,Cranial Nerve Malignant Neoplasm,Ring Chromosome,Biphasic Synovial Sarcoma,Epithelioid Cell Synovial Sarcoma,Well-Differentiated Liposarcoma,Cellular Myxoid Liposarcoma,Pleomorphic Liposarcoma,Peripheral Nervous System Disease,Small Cell Sarcoma,Sweat Gland Disease,Myxoid Chondrosarcoma,Skin Benign Neoplasm,Kidney Fibrosarcoma,Embryonal Rhabdomyosarcoma,Rhabdomyosarcoma,Orbit Rhabdomyosarcoma,Myxoid Liposarcoma,Myasthenic Syndrome, Congenital, 5,Sarcoma,Mesenchymal Cell Neoplasm,Fibrosarcoma,Localized Osteosarcoma,Ewing Sarcoma Of Bone,Bone Osteosarcoma,Small Cell Osteogenic Sarcoma,Conventional Central Osteosarcoma,Cranial Nerve Neoplasm,Liposarcoma,Pediatric Fibrosarcoma,Congenital Myasthenic Syndrome,Olfactory Nerve Neoplasm,Rhabdoid Cancer,Kidney Rhabdoid Cancer,Olfactory Neuroblastoma,Extracranial Neuroblastoma,Extraskeletal Chondroma,Skeletal Muscle Cancer,Muscle Cancer,Sarcoma, Synovial,Askin'S Tumor,Ewing Sarcoma,Chondrosarcoma, Extraskeletal Myxoid,Cervical Neuroblastoma,Wilms Tumor 1,Connective Tissue Benign Neoplasm,Lipomatosis, Multiple

Connective Tissue Disease,Parainfluenza Virus Type 3,Sjogren Syndrome,Growth Hormone Deficiency,Mixed Connective Tissue Disease,Limited Scleroderma,Isolated Growth Hormone Deficiency, Type V,Systemic Lupus Erythematosus,Isolated Growth Hormone Deficiency,Microcephalic Osteodysplastic Primordial Dwarfism, Type I,Isolated Growth Hormone Deficiency, Type Ia

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Gastrointestinal Neuroendocrine Benign Tumor,Spleen Cancer,Gastric Neuroendocrine Neoplasm,Breast Liposarcoma,Wolfram Syndrome 2,Mullegama-Klein-Martinez Syndrome,Chromosome 1p36 Deletion Syndrome

Brittle Bone Disorder

Diamond-Blackfan Anemia 4,Premature Menopause,Disease Of Mental Health,Scalp-Ear-Nipple Syndrome,Fragile X Syndrome

Psychotic Disorder,Schizoaffective Disorder,Schizophrenia 19,Schizophrenia

Charge Syndrome,Thymus Lymphoma,Microcephaly,Coloboma Of Macula,Verheij Syndrome,Xeroderma Pigmentosum, Complementation Group B,Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities

Cancer-Associated Retinopathy,Patellar Tendinitis

Breast Adenomyoepithelioma,Large Cell Acanthoma,Pilar Sheath Acanthoma,Breast Myoepithelial Neoplasm,Angioma Serpiginosum,Desmoid Disease, Hereditary

Amyotrophic Lateral Sclerosis 1

Diamond-Blackfan Anemia,Ulnar-Mammary Syndrome,Autosomal Dominant Non-Syndromic Intellectual Disability,Autosomal Dominant Non-Syndromic Intellectual Disability 1

Diabetes Mellitus,Wolfram Syndrome 1,Testicular Cancer,Wolfram Syndrome,Hepatocellular Carcinoma,Type 2 Diabetes Mellitus,Maturity-Onset Diabetes Of The Young

Diffuse Glomerulonephritis,Epidermolysis Bullosa, Junctional, Herlitz Type,Hemolytic Uremic Syndrome, Atypical 1,Coffin-Siris Syndrome 1,Arthrogryposis Multiplex Congenita 2, Neurogenic Type

Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies,Epilepsy,Nasal Cavity Benign Neoplasm,Myopathy, Centronuclear, 1,Malt Worker'S Lung,Prostate Squamous Cell Carcinoma,Primary Hyperoxaluria,Microcephaly,Kleefstra Syndrome 2,Disease Of Mental Health,Schizophrenia,Epilepsy, Early-Onset, With Or Without Developmental Delay,Kabuki Syndrome 1,Hyperinsulinemic Hypoglycemia, Familial, 1

Childhood Absence Epilepsy,Ischemic Neuropathy,Myotonic Disease,Myotonic Dystrophy 1,Neuroblastoma,Spinal And Bulbar Muscular Atrophy, X-Linked 1

Systemic Scleroderma,Facial Hemiatrophy,Dyskinesia Of Esophagus,Connective Tissue Disease,Splenic Tuberculosis,Telangiectasis,Collagen Disease,Lupus Erythematosus,Childhood Type Dermatomyositis,Mixed Connective Tissue Disease,Limited Scleroderma,Diffuse Scleroderma,Raynaud Disease,Heart Block, Congenital,Hypotrichosis 13,Pericardium Disease,Autoimmune Disease Of Exocrine System,Crest Syndrome,Systemic Lupus Erythematosus,Syndromic X-Linked Intellectual Disability Cabezas Type

Autoimmune Disease,Atrial Septal Defect 2

Lattice Corneal Dystrophy,Endometrial Stromal Sarcoma,Myopathy,Amyotrophic Lateral Sclerosis 1,T-Cell Lymphoblastic Leukemia/Lymphoma,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Autosomal Dominant Limb-Girdle Muscular Dystrophy,Muscular Dystrophy,Muscular Atrophy,Relapsing-Remitting Multiple Sclerosis,Atrial Septal Defect 1,Human T-Cell Leukemia Virus Type 2,Endometrial Stromal Tumor,Oculopharyngeal Muscular Dystrophy,Multisystem Proteinopathy,Dementia,Paget'S Disease Of Bone,Burkitt Lymphoma,Colorectal Cancer,Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3,Amyotrophic Lateral Sclerosis 20,Disease Of Mental Health,Dermatopathia Pigmentosa Reticularis,Multiple Sclerosis,Spinocerebellar Ataxia 2,Immune Deficiency Disease,Secondary Progressive Multiple Sclerosis,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Inflammatory Myofibroblastic Tumor,Epithelial-Stromal Tgfbi Dystrophy,Frontotemporal Dementia

Retinitis Pigmentosa,Endometrial Stromal Sarcoma,Spinocerebellar Ataxia 1,Frontotemporal Dementia

Retinitis Pigmentosa,Myotonic Dystrophy 1,Paraneoplastic Neurologic Disorders,Pontocerebellar Hypoplasia, Type 7,Spinal Muscular Atrophy,Motor Neuron Disease,Muscular Atrophy,Neuroblastoma,Sensory Peripheral Neuropathy,Hallucinogen Abuse,Atrial Septal Defect 1,Cone-Rod Dystrophy 6,Parkinson Disease, Late-Onset,Hyperinsulinemic Hypoglycemia, Familial, 4,Disease Of Mental Health,Retinitis Pigmentosa 49,Scalp-Ear-Nipple Syndrome,Fragile X Syndrome,Lambert-Eaton Myasthenic Syndrome,Lung Cancer

Endometrial Stromal Sarcoma,Myopathy,Bulbar Polio,Atrial Septal Defect 1,Human T-Cell Leukemia Virus Type 2,Patellar Tendinitis,Congenital Myasthenic Syndrome,Mouth Disease,Paralytic Poliomyelitis,Atrial Septal Defect 2,Frontotemporal Dementia

Endometrial Stromal Sarcoma,Myopathy,Congenital Lymphedema,Myotonic Disease,Myotonic Dystrophy 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Spinocerebellar Ataxia 8,Atrial Septal Defect 1,Endometrial Stromal Tumor,Precursor T-Cell Acute Lymphoblastic Leukemia,Myotonic Dystrophy 2,Congenital Myasthenic Syndrome,Dermatopathia Pigmentosa Reticularis,Hereditary Lymphedema,Mental Retardation, X-Linked, Syndromic, Bain Type

Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia,Lattice Corneal Dystrophy,Tremor, Hereditary Essential, 4,Amyotrophic Lateral Sclerosis 18,Supranuclear Palsy, Progressive, 1,Retinitis Pigmentosa,Anal Carcinoma In Situ,Amyotrophic Lateral Sclerosis 11,Clear Cell Sarcoma,Tremor,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Neuromuscular Disease,Fibrous Histiocytoma,Connective Tissue Cancer,Progressive Bulbar Palsy,Pica Disease,Dysgraphia,Nominal Aphasia,Extraosseous Chondrosarcoma,Amyotrophic Lateral Sclerosis 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Ideomotor Apraxia,Giant Axonal Neuropathy 2,Amyotrophic Lateral Sclerosis 8,Lateral Sclerosis,Spinal Muscular Atrophy,Motor Neuron Disease,Movement Disease,Muscular Atrophy,Locked-In Syndrome,Essential Tremor,Multisystem Proteinopathy,Synovium Cancer,Dementia,Cerebellar Disease,Juvenile Amyotrophic Lateral Sclerosis,Chondroid Lipoma,Dystonia,Myeloid Leukemia,Tremor, Hereditary Essential, 2,Well-Differentiated Liposarcoma,Cellular Myxoid Liposarcoma,Pediatric Liposarcoma,Pleomorphic Liposarcoma,Mixed Liposarcoma,Sclerosing Liposarcoma,Amyotrophic Lateral Sclerosis 4, Juvenile,Speech And Communication Disorders,Progressive Muscular Atrophy,Kidney Fibrosarcoma,Rhabdomyosarcoma,Pick Disease Of Brain,Myxoid Liposarcoma,Autosomal Dominant Cerebellar Ataxia,Sarcoma,Fibrosarcoma,Liposarcoma,Disease Of Mental Health,Dentatorubral-Pallidoluysian Atrophy,Dermatopathia Pigmentosa Reticularis,Dementia, Lewy Body,Hemochromatosis, Type 1,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4,Sarcoma, Synovial,Spinocerebellar Ataxia 2,Tremor, Hereditary Essential, 3,Amyotrophic Lateral Sclerosis 21,Amyotrophic Lateral Sclerosis 9,Alzheimer Disease 7,Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia,Tremor, Hereditary Essential, 1,Ewing Sarcoma,Amyotrophic Lateral Sclerosis 16, Juvenile,Chondrosarcoma, Extraskeletal Myxoid,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3,Epilepsy, Familial Temporal Lobe, 8,Fragile X-Associated Tremor/Ataxia Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Autism Spectrum Disorder,Aphasia,Writing Disorder,Associative Agnosia,Amyotrophic Lateral Sclerosis Type 6,Amyotrophic Lateral Sclerosis Type 12,Amyotrophic Lateral Sclerosis Type 14,Lipomatosis, Multiple,Amyotrophic Lateral Sclerosis Type 22,Epithelial-Stromal Tgfbi Dystrophy,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Frontotemporal Dementia,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Spinal Muscular Atrophy,Bladder Clear Cell Adenocarcinoma,Contagious Pustular Dermatitis,Laryngotracheitis

Ulcerative Blepharitis,Spinal Muscular Atrophy,Salpingitis Isthmica Nodosa