Precursor Cell Lymphoblastic Leukemia-Lymphoma


Bulbospinal neuronopathy, X-linked recessive


PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7


Drug-Related Side Effects and Adverse Reactions


Squamous Cell Carcinoma of Head and Neck


Clear-cell metastatic renal cell carcinoma


Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly


MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1


BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT


Glanzmann Thrombasthenia, Autosomal Dominant


NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO


Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis


Leukemia, Megakaryoblastic, of Down Syndrome


HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY


Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome


AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1


Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant


Polycythemia, primary familial and congenital


Precursor B-Cell Lymphoblastic Leukemia-Lymphoma


Precursor T-Cell Lymphoblastic Leukemia-Lymphoma


CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT


MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT


MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE


Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2


Ceroid lipofuscinosis, neuronal 1, infantile


IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION


Lymphoproliferative Syndrome, X-Linked, 2


Leukemia, Myelogenous, Chronic, BCR-ABL Positive


MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1


Ophthalmoplegia, Chronic Progressive External


Pyogenic arthritis, pyoderma gangrenosum, and acne


Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant


Lipodystrophy, Congenital Generalized, Type 3


Mandibuloacral dysplasia with type A lipodystrophy


NEONATAL NEPHROCUTANEOUS INFLAMMATORY SYNDROME


Neuronopathy, Distal Hereditary Motor, Type IIB


HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE


CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D


Hemangioma, Cavernous, Central Nervous System


ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12


Adenylate Kinase Deficiency, Hemolytic Anemia Due To


ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5


Bone Fragility with Contractures, Arterial Rupture, and Deafness


Bronchiectasis With Or Without Elevated Sweat Chloride 1


Chronic recurrent multifocal osteomyelitis


Congenital bilateral aplasia of vas deferens


Epidermolysis Bullosa, Junctional, Non-Herlitz Type


Ichthyosis follicularis atrichia photophobia syndrome


Keratosis Follicularis Spinulosa Decalvans, X-Linked


Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase


MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3


MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6


Neuropathy, hereditary motor and sensory, Russe type


Plasminogen Activator Inhibitor-1 Deficiency


Xeroderma Pigmentosum, Complementation Group D


Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal


Congenital disorder of glycosylation type 1B


Congenital disorder of glycosylation type II


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45


ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE


EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES


Molybdenum Cofactor Deficiency, Complementation Group B


NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT


Amyotrophic Lateral Sclerosis 6, Autosomal Recessive


ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH


BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME


BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2


CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6


Congenital disorder of glycosylation type 2A


Cystic Kidney Disease with Ventriculomegaly


DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT,


DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35


ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE


Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant


FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2


Fanconi Anemia, Complementation Group D1


Hereditary Breast and Ovarian Cancer Syndrome


Heredodegenerative Disorders, Nervous System


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33


Kallikrein, Decreased Urinary Activity of


MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME


Methylmalonic acidemia with homocystinuria


MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)


MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO


NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1


Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal


Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy


Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1


Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive


Renal Tubular Acidosis, Distal, With Hemolytic Anemia


Rhabdoid Tumor Predisposition Syndrome 2


Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


Spastic paraplegia 4, autosomal dominant


Spermatogenic Failure, Nonobstructive, Y-Linked


Spondyloepimetaphyseal Dysplasia, Pakistani Type


SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY


Succinyl-CoA:3-oxoacid CoA transferase deficiency


Hyperinsulinemic hypoglycemia, familial, 6


Attention Deficit Disorder with Hyperactivity


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3


Fundus Dystrophy, Pseudoinflammatory, Of Sorsby


Mineralocorticoid Excess Syndrome, Apparent


Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia


Avoidant Restrictive Food Intake Disorder


Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to


MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA


Ectodermal dysplasia, hypohidrotic, with immune deficiency


Extravasation of Diagnostic and Therapeutic Materials


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4


IMMUNODEFICIENCY 39, SUSCEPTIBILITY TO VIRAL INFECTIONS


Invasive Pneumococcal Disease, Recurrent Isolated, 2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4


PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2


Osteopetrosis with renal tubular acidosis


Complement Component 3 Deficiency, Autosomal Recessive


Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency


Autoimmune Lymphoproliferative Syndrome, Type IIA


Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans


Hyperinsulinemic Hypoglycemia, Familial, 5


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10


Acth-Independent Macronodular Adrenal Hyperplasia


ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS


Bleeding Disorder due to Defective Thromboxane A2 Receptor


CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES


CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C


Congenital central hypoventilation syndrome


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47


Facial Dysmorphism with Multiple Malformations


Fibular hypoplasia and complex brachydactyly


gaze palsy, familial horizontal, with progressive scoliosis


Growth Hormone-Secreting Pituitary Adenoma


HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS


Hereditary leiomyomatosis and renal cell cancer


Hereditary Sensory and Autonomic Neuropathies


Hyperbilirubinemia, Transient Familial Neonatal


Hypocalciuric hypercalcemia, familial, type 2


Lethal Congenital Contractural Syndrome 3


LETHAL CONGENITAL CONTRACTURE SYNDROME 8


Malignant hyperthermia susceptibility type 1


Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction


Mental Retardation, Autosomal Recessive 13


Microcephaly, Primary Autosomal Recessive, 1


Microphthalmia, Isolated, with Coloboma 5


Minicore Myopathy with External Ophthalmoplegia


PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS


Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4


Spondyloepimetaphyseal Dysplasia, Missouri Type


Parkinson Disease 4, Autosomal Dominant Lewy Body


HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA


1,2,3,4,4a,5,10,10a-octahydro-6-methoxy-1-methylbenz(g)quinoline-3-carboxylic acid 4-(4-nitrophenyl)piperazine amide


AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE


Spondylometaphyseal dysplasia, Sedaghatian type


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1


Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3


Hyperparathyroidism, Neonatal Severe Primary


Hypocalcemia, Autosomal Dominant, with Bartter Syndrome


Hypocalciuric hypercalcemia, familial, type 1


Immune dysfunction with T-cell inactivation due to calcium entry defect 1


Immune dysfunction with T-cell inactivation due to calcium entry defect 2


NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET


Disruptive, Impulse Control, and Conduct Disorders


Hyper-IgM Immunodeficiency Syndrome, Type 1


Periodic fever, familial, autosomal dominant


Pituitary Hormone Deficiency, Combined, 4


PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT


Attention Deficit and Disruptive Behavior Disorders


Sleep Initiation and Maintenance Disorders


46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related


46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy


Adenosine Triphosphate, Elevated, Of Erythrocytes


AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE


Amyotrophic Lateral Sclerosis 2, Juvenile


ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1


Anemia, Hemolytic, Congenital Nonspherocytic


ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO


Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps


ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS


ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS


Arrhythmogenic Right Ventricular Dysplasia, Familial, 8


Bile Acid Synthesis Defect, Congenital, 3


Bile acid synthesis defect, congenital, 4


BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5


BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6


BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES


Cardiomyopathy dilated with woolly hair and keratoderma


CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS


Cataract, Nuclear Diffuse Nonprogressive


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R


CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E


Cholestasis, progressive familial intrahepatic 1


Cholestasis, progressive familial intrahepatic 3


Chondrodysplasia, acromesomelic, with genital anomalies


Chromosome 15q13.3 Microdeletion Syndrome


CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA


CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2


CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5


Crouzon Syndrome With Acanthosis Nigricans


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52


Epidermolysis bullosa, lethal acantholytic


Epidermolysis bullosa with pyloric atresia


FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE


Generalized Epilepsy With Febrile Seizures Plus, Type 1


Glomerulopathy with fibronectin deposits


Hereditary Motor And Sensory Neuropathy, Type IIC


Hereditary spastic paralysis, infantile onset ascending


Heterotopia, Periventricular, Autosomal Recessive


Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction


Hyperinsulinemic hypoglycemia, familial, 3


Hyperinsulinemic hypoglycemia, familial, 7


Hypermanganesemia with Dystonia Polycythemia and Cirrhosis


HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6


ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10


IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION


IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1


Insulin-Like Growth Factor I, Resistance To


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE


LETHAL CONGENITAL CONTRACTURE SYNDROME 11


LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14


Maturity-Onset Diabetes of the Young, Type 2


MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE


Microcephaly, Primary Autosomal Recessive, 2


Microcephaly, Primary Autosomal Recessive, 5


MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA


MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY


MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME


Muscular dystrophy congenital, merosin negative


Muscular Dystrophy, Limb-Girdle, Type 2G


Myoglobinuria, Acute Recurrent, Autosomal Recessive


Myopathy, Distal, with Anterior Tibial Onset


Myopathy, Reducing Body, X-Linked, Childhood-Onset


Myopathy, Reducing Body, X-Linked, Early-Onset, Severe


Nephropathy with Pretibial Epidermolysis Bullosa and Deafness


NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5


Neurodegeneration with brain iron accumulation (NBIA)


NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES, POOR GROWTH, AND DYSMORPHIC FACIES


Neuroectodermal Tumors, Primitive, Peripheral


Neuronopathy, Distal Hereditary Motor, Type V


Neuropathy, hereditary motor and sensory, LOM type


Night Blindness, Congenital Stationary, Autosomal Dominant 3


PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3


Scapuloperoneal Myopathy, X-Linked Dominant


SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1


Spastic Paraplegia 31, Autosomal Dominant


SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE


Spinal Muscular Atrophy, Distal, Congenital Nonprogressive


SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondylometaphyseal dysplasia, Kozlowski type


Striatal Degeneration, Autosomal Dominant


Thiamine responsive megaloblastic anemia syndrome


Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant


Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive


Van Maldergem Wetzburger Verloes syndrome


Visceral myopathy familial external ophthalmoplegia


X-Linked Emery-Dreifuss Muscular Dystrophy


AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency


Alopecia, Neurologic Defects, and Endocrinopathy Syndrome


Arthrogryposis multiplex congenita, distal, X-linked


Cardiomyopathy, Familial Hypertrophic, 15


Cataract, Congenital Nuclear, Autosomal Recessive 3


Congenital idiopathic intestinal pseudoobstruction


CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME


Heterotopia, Periventricular, Ehlers-Danlos Variant


MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)


MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY


Muscular Dystrophy, Limb-Girdle, Type 1F


Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial


RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME


Retinal Nonattachment, Nonsyndromic Congenital


SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION


X-linked mental retardation Gustavson type


Hypophosphatemic Rickets, Autosomal Dominant


Vitamin D Hydroxylation-Deficient Rickets, Type 1A


MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE


BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5


Isolated Growth Hormone Deficiency, Type IB


Isolated Growth Hormone Deficiency, Type II


NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS


SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE


1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester


Aniridia cerebellar ataxia mental deficiency


Cardiomyopathy, Familial Hypertrophic, 1


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B


Charcot-Marie-Tooth Disease, Axonal, Type 2A2


CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2


Cholestasis, progressive familial intrahepatic 2


Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia


Craniometaphyseal dysplasia, autosomal recessive type


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11


ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1


Follicle-stimulating hormone deficiency, isolated


Hereditary Diffuse Leukoencephalopathy with Spheroids


Hereditary Motor And Sensory Neuropathy VI


Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly


Muscular Dystrophy, Limb-Girdle, Type 1C


Neutropenia, Severe Congenital, Autosomal Dominant 1


Oculodentodigital Dysplasia, Autosomal Recessive


SHORT STATURE AND ADVANCED BONE AGE WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS


Spondyloepimetaphyseal Dysplasia, Aggrecan Type


Spondyloepiphyseal Dysplasia, Kimberley Type


Epilepsy, Nocturnal Frontal Lobe, Type 3


Atypical Mycobacteriosis, Familial, X-Linked 2


Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative


Colorectal Cancer, Hereditary Nonpolyposis, Type 8


Colorectal Neoplasms, Hereditary Nonpolyposis


Diarrhea 5, With Tufting Enteropathy, Congenital


Lynch syndrome I (site-specific colonic cancer)


Popliteal Pterygium Syndrome, Lethal Type


Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to


Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II


Keratitis, Ichthyosis, and Deafness (KID) Syndrome


Knuckle pads, leuconychia and sensorineural deafness


NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES


PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO


Platelet-Activating Factor Acetylhydrolase Deficiency


Progressive hearing loss stapes fixation


SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III


CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA


CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION


Congenital myasthenic syndrome with episodic apnea


Ehlers-Danlos syndrome, cardiac valvular form


PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA


Prolonged Electroretinal Response Suppression


Sick Sinus Syndrome 1, Autosomal Recessive


Diabetes Mellitus, Insulin-Dependent, 10


Interleukin 2 Receptor, Alpha, Deficiency of


MYOPATHY, MYOFIBRILLAR, 2B, INFANTILE-ONSET


Alcohol-Induced Disorders, Nervous System


ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS


Cerebellar Ataxia, Deafness, and Narcolepsy


Charcot-Marie-Tooth Disease, Dominant Intermediate A


Congenital disorder of glycosylation type 1J


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn


Cutis Laxa, Autosomal Recessive, Type IIB


CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB


HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY


Hypothyroidism, Congenital, Nongoitrous, 1


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54


INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN


Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis


MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2


MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2


Parkinsonism, early onset with mental retardation


PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)


POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE


Spastic Paraplegia 7, Autosomal Recessive


SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1


Thyroid Hormone Resistance, Generalized, Autosomal Dominant


Thyroid Hormone Resistance, Generalized, Autosomal Recessive


Thyroid Hormone Resistance, Selective Pituitary


MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2


1,2-Dihydroxybenzene-3,5-Disulfonic Acid Disodium Salt


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18


Microcephaly with Chorioretinopathy, Autosomal Recessive


Arrhythmogenic Right Ventricular Dysplasia, Familial, 12


3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency


3-methylcrotonyl CoA carboxylase 1 deficiency


3-methylcrotonyl CoA carboxylase 2 deficiency


Achalasia Addisonianism Alacrimia syndrome


Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of


ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME


Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells


ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA


Amelogenesis imperfecta local hypoplastic form


Amelogenesis imperfecta pigmented hypomaturation type


AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA


Amyotrophic Lateral Sclerosis 4, Juvenile


AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1


ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6


Anemia, Hypochromic Microcytic, With Iron Overload


Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive


Anemia, sideroblastic spinocerebellar ataxia


Arhinia, choanal atresia, and microphthalmia


Armfield X-Linked Mental Retardation Syndrome


Aromatic amino acid decarboxylase deficiency


Arrhythmogenic Right Ventricular Dysplasia, Familial, 1


Arrhythmogenic Right Ventricular Dysplasia, Familial, 10


Arrhythmogenic Right Ventricular Dysplasia, Familial, 5


Arrhythmogenic Right Ventricular Dysplasia, Familial, 9


ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES


ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT


ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY


Arthrogryposis renal dysfunction cholestasis syndrome


Asthma, Nasal Polyps, And Aspirin Intolerance


ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7


Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome


AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2


AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM


Autoimmune Diseases of the Nervous System


AUTOINFLAMMATION AND AUTOIMMUNITY, SYSTEMIC, WITH IMMUNE DYSREGULATION 1


AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION


AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME, AUTOSOMAL RECESSIVE


AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS


AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1


BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT


BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6


B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY


Beta-Hydroxyisobutyryl CoA Deacylase Deficiency


Beta Thalassemia, Dominant Inclusion Body Type


Bile acid synthesis defect, congenital, 1


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18


BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS


BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY


BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4


BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2


Bronchiectasis With Or Without Elevated Sweat Chloride 2


Carbamoyl-Phosphate Synthase I Deficiency Disease


Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies


Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency


CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM


Cardiomyopathy, Familial Hypertrophic, 11


Cardiomyopathy, Familial Hypertrophic, 14


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17


Cardiomyopathy, Familial Hypertrophic, 2


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26


Cardiomyopathy, Familial Hypertrophic, 3


Cardiomyopathy, Familial Hypertrophic, 6


Cardiomyopathy, Familial Hypertrophic, 9


Carnitine palmitoyl transferase 1A deficiency


Carnitine Palmitoyltransferase II Deficiency, Infantile


Carnitine Palmitoyltransferase II Deficiency, Late-Onset


Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal


CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY


Cataract, Autosomal Dominant, Multiple Types 1


Cataract, autosomal recessive congenital 2


Cataract, Juvenile, With Microcornea And Glucosuria


Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation


Cerebellar Ataxia and Hypogonadotropic Hypogonadism


Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2


CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION


CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1


CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2


Cerebroretinal Microangiopathy with Calcifications and Cysts


CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)


Charcot-Marie-Tooth Disease, Axonal, Type 2a1


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L


Charcot-Marie-Tooth Disease, Axonal, Type 2n


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y


Charcot-Marie-Tooth Disease, Demyelinating, Type 1e


CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3


CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4K


Charcot-Marie-Tooth Disease, Dominant Intermediate B


CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B


Charcot-Marie-Tooth disease, Type 4A, axonal form


Charcot-Marie-Tooth disease, X-linked, 1


CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5


CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism


Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb


CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 2, WITH PERIOSTITIS AND PUSTULOSIS


Classical Lissencephalies and Subcortical Band Heterotopias


COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT


Colorectal Adenomatous Polyposis, Autosomal Recessive


Colorectal Cancer, Hereditary Nonpolyposis, Type 5


Colorectal Cancer, Hereditary Nonpolyposis, Type 6


Colorectal Cancer, Hereditary Nonpolyposis, Type 7


Combined Oxidative Phosphorylation Deficiency 1


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19


Combined Oxidative Phosphorylation Deficiency 2


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28


Combined Oxidative Phosphorylation Deficiency 3


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30


Combined Oxidative Phosphorylation Deficiency 5


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9


Congenital Bone Marrow Failure Syndromes


Congenital Cataracts, Facial Dysmorphism, And Neuropathy


CONGENITAL DISORDER OF DEGLYCOSYLATION 1


Congenital disorder of glycosylation type 1C


Congenital disorder of glycosylation type 1E


Congenital disorder of glycosylation type 1F


Congenital disorder of glycosylation type 1G


Congenital disorder of glycosylation type 1H


Congenital disorder of glycosylation type 1K


Congenital disorder of glycosylation type 1L


Congenital disorder of glycosylation, type 2C


Congenital disorder of glycosylation type 2D


Congenital disorder of glycosylation type 2E


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa


Congenital Disorder Of Glycosylation, Type IIB


Congenital Disorder Of Glycosylation, Type IIF


Congenital Disorder Of Glycosylation, Type IIH


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm


Congenital Disorder Of Glycosylation, Type Im


Congenital Disorder of Glycosylation, Type Io


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy


CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER


CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4


Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects


Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi


Contiguous Abcd1-Dxs1375e Deletion Syndrome


Corneal Dystrophy, Crystalline, of Schnyder


Corneal dystrophy, epithelial basement membrane


Corneal dystrophy of Bowman layer, type 1


Corneal Dystrophy, Posterior Polymorphous, 1


Corneal Dystrophy, Posterior Polymorphous, 3


Coronary Artery Disease, Autosomal Dominant, 1


Coronary Artery Disease, Autosomal Dominant 2


Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia


Corpus Callosum, Partial Agenesis of, X-Linked


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7


Craniodiaphyseal Dysplasia, Autosomal Dominant


Craniosynostosis radial aplasia syndrome


CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL


Cutis Gyrata Syndrome of Beare And Stevenson


CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB


Cutis Laxa, Autosomal Recessive, Type IIA


CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID


Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities


Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type


Cytosolic acetoacetyl-CoA thiolase deficiency


DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY,


Deafness, autosomal dominant nonsyndromic sensorineural 17


DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF


DEAFNESS, AUTOSOMAL RECESSIVE 70, WITH OR WITHOUT ADULT-ONSET NEURODEGENERATION


Deafness, Congenital, and Onychodystrophy, Autosomal Dominant


Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54


Diabetes Mellitus, Insulin-Dependent, 20


Diabetes Mellitus, Noninsulin-Dependent, 1


Diabetes Mellitus, Transient Neonatal, 1


Diabetes Mellitus, Transient Neonatal, 2


DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS


DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS


Diaphyseal medullary stenosis with malignant fibrous histiocytoma


DIARRHEA 8, SECRETORY SODIUM, CONGENITAL


Dyschromatosis Universalis Hereditaria 1


DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3


Dyskeratosis Congenita, Autosomal Dominant


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6


Dyskeratosis Congenita, Autosomal Recessive


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6


Dyskinesia, Familial, with Facial Myokymia


DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES


Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency


ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT


Ectodermal dysplasia, ectrodactyly, and macular dystrophy


Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive


ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME


Ectodermal Dysplasia-Skin Fragility Syndrome


ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE


Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism


Ehlers-Danlos syndrome caused by tenascin-X deficiency


EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2


Ehlers-Danlos Syndrome, musculocontractural type 1


EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4


ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2


ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM


ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1


ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY


Epidermolysa bullosa simplex and limb girdle muscular dystrophy


Epidermolysis bullosa dystrophica, Pasini type


EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME


EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE


EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY


Epidermolysis Bullosa Simplex, Autosomal Recessive


Epidermolysis bullosa simplex, Ogna type


Epidermolysis Bullosa Simplex With Pyloric Atresia


Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails


Epilepsy, Female-Restricted, with Mental Retardation


Epilepsy, Myoclonic, Benign Adult Familial, Type 2


EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS


Epileptic Encephalopathy, Early Infantile, 3


Facioscapulohumeral muscular dystrophy 1a


Facioscapulohumeral Muscular Dystrophy 1B


FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1


FANCONI ANEMIA, COMPLEMENTATION GROUP D2


FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG


Fibrosis Of Extraocular Muscles, Congenital, 2


Fibrosis of Extraocular Muscles, Congenital, 3B


Finnish lethal neonatal metabolic syndrome


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7


FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 9


Frontotemporal Dementia With Motor Neuron Disease


Gamma aminobutyric acid transaminase deficiency


Gastroenteritis, Transmissible, of Swine


Gaucher Disease, Atypical, Due To Saposin C Deficiency


Giant Axonal Neuropathy, Autosomal Dominant


GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO


GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY


GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE


Glycogen Storage Disease of Heart, Lethal Congenital


GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS


GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3


Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I


Growth mental deficiency syndrome of Myhre


Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy


GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY


HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO


HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES


Hemophagocytic lymphohistiocytosis, familial, 2


Hemophagocytic lymphohistiocytosis, familial, 3


Hemophagocytic lymphohistiocytosis, familial, 4


Hemophagocytic Lymphohistiocytosis, Familial, 5


Hennekam lymphangiectasia lymphedema syndrome


Hepatic venoocclusive disease with immunodeficiency


Hepatorenal form of glycogen storage disease


Hereditary Myopathy with Early Respiratory Failure


Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type


Hypercholesterolemia, Autosomal Dominant, 3


HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES


Hyperinsulinemic Hypoglycemia, Familial, 4


HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3


Hyperphosphatasia with Mental Retardation


Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy


HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME


Hypobetalipoproteinemia, Familial, Apolipoprotein B


Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked


HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA


HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA


HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA


HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA


HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA


HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA


Hypophosphatemic Rickets, Autosomal Recessive, 2


HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION


HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3


Ichthyosiform erythroderma, Brocq congenital, nonbullous form


ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6


Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis


Ichthyosis with hypotrichosis, autosomal recessive


IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION


IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES


IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION


IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION


IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2


IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3


IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY


Immunodeficiency due to Defect in MAPBP-Interacting Protein


IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA


IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES


IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS


IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS


Inclusion Body Myopathy 3, Autosomal Dominant


Inclusion body myopathy autosomal recessive


Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia


Inflammatory Bowel Disease 25, Autosomal Recessive


Inflammatory Bowel Disease 28, Autosomal Recessive


INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 10


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 45


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 50


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 59


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60


INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE


Jansen type metaphyseal chondrodysplasia


Juvenile macular degeneration and hypotrichosis


Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia


Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma


Keratosis palmoplantaris with esophageal cancer


Keratosis palmoplantaris with periodontopathia and onychogryposis


KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT


Krabbe Disease, Atypical, due to Saposin A Deficiency


Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency


Lethal Arthrogryposis With Anterior Horn Cell Disease


Lethal congenital contracture syndrome 1


LETHAL CONGENITAL CONTRACTURE SYNDROME 10


Lethal Congenital Contracture Syndrome 2


LETHAL CONGENITAL CONTRACTURE SYNDROME 5


LETHAL CONGENITAL CONTRACTURE SYNDROME 9


Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism


LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE


LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3


Lipodystrophy, Congenital Generalized, Type 4


LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA


LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY


Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis


Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1


Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies


MACULAR DEGENERATION, ATROPHIC, X-LINKED


MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT


Malignant hyperthermia susceptibility type 5


Mandibuloacral dysplasia with type B lipodystrophy


MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE


Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome


Maturity-Onset Diabetes of the Young, Type 1


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1


Maturity-Onset Diabetes of the Young, Type 3


Maturity-Onset Diabetes of the Young, Type 4


Maturity-Onset Diabetes of the Young, Type 7


Maturity-Onset Diabetes Of The Young, Type 9


Medium chain acyl CoA dehydrogenase deficiency


Megacystis microcolon intestinal hypoperistalsis syndrome


Megalencephalic leukoencephalopathy with subcortical cysts


MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT


Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia


Mental Retardation, Autosomal Recessive 1


Mental Retardation, Autosomal Recessive 12


Mental Retardation, Autosomal Recessive 2


Mental Retardation, Autosomal Recessive 3


Mental Retardation, Autosomal Recessive 7


Mental retardation-hypotonic facies syndrome, x-linked, 1


Mental Retardation, X-Linked, Syndromic 10


Mental Retardation, X-Linked, Syndromic 14


Mental Retardation, X-Linked, Syndromic, Christianson Type


Mental Retardation, X-Linked, Syndromic, Jarid1c-Related


Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance


Mental Retardation, X-Linked, with Epilepsy


Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related


Metachromatic Leukodystrophy due to Saposin B Deficiency


Metaphyseal Chondrodysplasia with Retinitis Pigmentosa


Metaphyseal Dysplasia without Hypotrichosis


Methylmalonate Semialdehyde Dehydrogenase Deficiency


Methylmalonic Aciduria and Homocystinuria, CblD Type


Methylmalonic Aciduria and Homocystinuria, CblF Type


METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE


Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency


METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT


Microcephalic Osteodysplastic Primordial Dwarfism, Type II


MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE


MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE


MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE


MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE


MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE


MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS


MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1


MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY


Microcephaly, Primary Autosomal Recessive, 6


MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY


Microcephaly with Mental Retardation and Digital Anomalies


MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT


MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS


MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME


MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4


MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B


MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)


MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)


MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)


Mitochondrial myopathy with lactic acidosis


Mitochondrial Phosphate Carrier Deficiency


MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY


Molybdenum Cofactor Deficiency, Complementation Group C


MONONEUROPATHY OF THE MEDIAN NERVE, MILD


MORBID OBESITY AND SPERMATOGENIC FAILURE


Multiple Acyl Coenzyme A Dehydrogenase Deficiency


MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1


MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3


MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS


Multiple Mitochondrial Dysfunctions Syndrome


MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA


MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE


MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE


Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency


Muscular Dystrophy, Congenital, Lmna-Related


MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND IMPAIRED INTELLECTUAL DEVELOPMENT


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9


MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17


MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21


MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25


Muscular Dystrophy, Limb-Girdle, Type 1E


Muscular Dystrophy, Limb-Girdle, Type 2J


Myasthenic Syndrome, Congenital, Fast-Channel


Myasthenic syndrome, congenital, type Id


Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency


MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO


MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES


Myopathy, Centronuclear, Autosomal Recessive


Myopathy, Early-Onset, with Fatal Cardiomyopathy


MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT


Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay


Myopathy with lactic acidosis and sideroblastic anemia


Myopathy with Lactic Acidosis, Hereditary


Myopathy, X-Linked, with Excessive Autophagy


N-acetyl glutamate synthetase deficiency


NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3


Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor


Nephrogenic Syndrome of Inappropriate Antidiuresis


Nephrolithiasis, X-Linked Recessive, with Renal Failure


Nephrotic syndrome, idiopathic, steroid-resistant


NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES


Neuraminidase deficiency with beta-galactosidase deficiency


Neurodegeneration Due To Cerebral Folate Transport Deficiency


NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A


NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES


NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION


NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY


NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES


NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES


NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES


NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SPEECH DELAY, AND DYSMORPHIC FACIES


NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE


NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE


NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES


NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES


NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY


NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1


NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6


NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5


Neuronopathy, Distal Hereditary Motor, Type Viib


Neuropathy, Distal Hereditary Motor, Type IIA


Neuropathy, hereditary motor and sensory, Okinawa type


NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI


Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive


Neutral Lipid Storage Disease with Myopathy


Neutropenia, Nonimmune Chronic Idiopathic, Adult


NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE


NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE


Neutropenia, Severe Congenital, Autosomal Dominant 2


Neutropenia, Severe Congenital, Autosomal Recessive 3


Neutropenia, Severe Congenital, Autosomal Recessive 4


Neutropenia, Severe Congenital, X-Linked


Nijmegen Breakage Syndrome-Like Disorder


NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1


Obesity, Hyperphagia, and Developmental Delay


Optic atrophy and cataract, autosomal dominant


Ornithine Carbamoyltransferase Deficiency Disease


ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE


OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE


PALMOPLANTAR KERATODERMA AND WOOLLY HAIR


PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2


PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE


PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO


PARKINSON DISEASE 22, AUTOSOMAL DOMINANT


Parkinson Disease 7, Autosomal Recessive Early-Onset


Partington X-linked mental retardation syndrome


Patterned dystrophy of retinal pigment epithelium


PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS


Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease


PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY


PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)


PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)


Pierre Robin syndrome with fetal chondrodysplasia


Pigmented Nodular Adrenocortical Disease, Primary, 1


Pituitary Hormone Deficiency, Combined, 2


Platelet Disorder, Familial, with Associated Myeloid Malignancy


Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia


Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy


Polymorphic Catecholaminergic Ventricular Tachycardia


Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract


Polyostotic osteolytic dysplasia, hereditary expansile


Porokeratosis, disseminated superficial actinic 1


Preaxial deficiency, postaxial polydactyly and hypospadias


PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3


Preterm Premature Rupture of the Membranes


Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia


Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3


Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4


Progressive Familial Heart Block, Type Ib


PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1


Pseudohyperkalemia, Familial, 2, due to Red Cell Leak


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4


Purine Nucleoside Phosphorylase Deficiency


Purine-Pyrimidine Metabolism, Inborn Errors


Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency


Pyruvate Dehydrogenase Complex Deficiency Disease


Pyruvate Dehydrogenase E1-Beta Deficiency


Pyruvate Dehydrogenase E3-Binding Protein Deficiency


Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia


RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1


Renal hepatic pancreatic dysplasia Dandy Walker cyst


Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation


Reticuloendotheliosis, familial, with eosinophilia


RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME


RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES


RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES


RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS


Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness


Rhabdoid Tumor Predisposition Syndrome 1


Rhizomelic chondrodysplasia punctata, type 1


Rhizomelic chondrodysplasia punctata, type 2


RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5


Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked


Sacral defect and anterior sacral meningocele


Scaphocephaly, Maxillary Retrusion, And Mental Retardation


Scapuloperoneal Syndrome, Neurogenic, Kaeser Type


SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1


SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME


Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative


Severe combined immunodeficiency due to adenosine deaminase deficiency


Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation


Severe combined immunodeficiency with sensitivity to ionizing radiation


Short chain Acyl CoA dehydrogenase deficiency


Sick Sinus Syndrome 2, Autosomal Dominant


Siderius X-linked mental retardation syndrome


Spastic paraplegia 10, autosomal dominant


Spastic paraplegia 11, autosomal recessive


Spastic paraplegia 12, autosomal dominant


Spastic paraplegia 13, autosomal dominant


Spastic Paraplegia 18, Autosomal Recessive


Spastic paraplegia 20, autosomal recessive


Spastic Paraplegia 28, Autosomal Recessive


Spastic Paraplegia 39, Autosomal Recessive


Spastic paraplegia 3, autosomal dominant


Spastic Paraplegia 42, Autosomal Dominant


SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM


SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE


Spastic paraplegia 6, autosomal dominant


SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT


SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE


Spastic Paraplegia, Optic Atrophy, and Neuropathy


Spinal Muscular Atrophy, Distal, X-Linked 3


Spinal Muscular Atrophy, Late-Onset, Finkel Type


SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2


SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY


Spinocerebellar ataxia, autosomal recessive 1


Spinocerebellar Ataxia, Autosomal Recessive 2


Spinocerebellar ataxia, autosomal recessive 4


Spinocerebellar Ataxia, Autosomal Recessive 7


Spinocerebellar Ataxia, Autosomal Recessive 8


Spondylocostal dysostosis, autosomal recessive


Spondyloepimetaphyseal dysplasia, Genevieve type


SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS


Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy


Spongiform Encephalopathy with Neuropsychiatric Features


Subcutaneous panniculitis-like T-cell lymphoma


succinic semialdehyde dehydrogenase deficiency


Sudden Infant Death with Dysgenesis of the Testes Syndrome


Surfactant Metabolism Dysfunction, Pulmonary, 3


Surfactant Metabolism Dysfunction, Pulmonary, 4


SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5


THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)


THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)


Thiopurine S methyltranferase deficiency


Thrombophilia due to Thrombomodulin Defect


Thrombophilia, X-Linked, Due To Factor Ix Defect


THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1


Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations


Transient bullous dermolysis of the newborn


Trifunctional Protein Deficiency With Myopathy And Neuropathy


TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 1


TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 5


Tumoral Calcinosis, Hyperphosphatemic, Familial


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


Vanishing White Matter Leukodystrophy with Ovarian Failure


Vascular Malformation, Primary Intraosseous


Vasculopathy, Retinal, With Cerebral Leukodystrophy


VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY


VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1


VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2


Wolfram-Like Syndrome, Autosomal Dominant


Xeroderma Pigmentosum, Complementation Group B


Xeroderma Pigmentosum, Complementation Group C


Xeroderma Pigmentosum, Complementation Group F


Xeroderma Pigmentosum, Complementation Group G


X-Linked Combined Immunodeficiency Diseases


Cataract, Congenital Nuclear, Autosomal Recessive 2


Bile acid synthesis defect, congenital, 2


CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29


CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA


Deafness, Sensorineural, Autosomal-Mitochondrial Type


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12


HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY


IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION


PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1


Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency


Lecithin Cholesterol Acyltransferase Deficiency


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30


MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)


Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5


Slowed Nerve Conduction Velocity, Autosomal Dominant


ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1


Epilepsy, Nocturnal Frontal Lobe, Type 1


1-(3-(2-(1-benzothiophen-5-yl) ethoxy) propyl)-3-azetidinol maleate


HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA


COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I


COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II


Congenital thrombotic disease, due to Protein C deficiency


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41


Diabetes Mellitus, Insulin-Dependent, 22


Generalized Epilepsy and Paroxysmal Dyskinesia


IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT


Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies


Jejunal Atresia with Microcephaly and Ocular Anomalies


LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11


Mental Retardation, Autosomal Dominant 5


Metaphyseal chondrodysplasia Schmid type


NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE


NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART


PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1


RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT


Spastic paraplegia 26, autosomal recessive


Thrombophilia due to Activated Protein C Resistance


Thrombophilia Due To Elevated Histidine-Rich Glycoprotein


THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4


Parkinson Disease 6, Autosomal Recessive Early-Onset


ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2


ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6


Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome


BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4


BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1


BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12


COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA


Complement Component 4, Partial Deficiency Of


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32


IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41


LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA


LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA


Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa


Microcephaly, Primary Autosomal Recessive, 4


Microcephaly, Primary Autosomal Recessive, 7


Muscular Dystrophy, Congenital, Megaconial Type


NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA


Pigmentary Disorder, Reticulate, with Systemic Manifestations


Plantar Lipomatosis, Unusual Facies, and Developmental Delay


Spastic paraplegia 15, autosomal recessive


SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE


Venous Malformations, Multiple Cutaneous and Mucosal


Vitamin D Hydroxylation-Deficient Rickets, Type 1B


1-(4-chlorobenzoyl)-5-methoxy-2-1H-indole-3-acetic acid 3-(nitrooxymethyl)phenyl ester


Charcot-Marie-Tooth Disease, Dominant Intermediate C


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43


HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46


15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid


ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT


Lupus Vasculitis, Central Nervous System


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29


Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20


Hyperferritinemia, hereditary, with congenital cataracts


17,20-((1-methoxyethylidene)bis(oxy))-3-oxo-19-norpregna-4,20-diene-21-carboxylic acid methyl ester


Congenital adrenal hyperplasia due to 21 hydroxylase deficiency


Diffuse palmoplantar keratoderma, Bothnian type


Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis


Generalized Epilepsy With Febrile Seizures Plus, Type 2


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U


Combined Oxidative Phosphorylation Deficiency 4


Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism


Diarrhea 3, Secretory Sodium, Congenital


Epidermolysis Bullosa Simplex with Migratory Circinate Erythema


Epidermolysis bullosa simplex with mottled pigmentation


Epilepsy, Nocturnal Frontal Lobe, Type 4


Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders


Hypotrichosis And Recurrent Skin Vesicles


PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE


Charcot-Marie-Tooth Disease, Dominant Intermediate D


Schizophrenia Spectrum and Other Psychotic Disorders


1-(cyclohexylmethyl)-1H-indole-3-carboxylic acid 8-quinolinyl ester


Adenosine monophosphate deaminase deficiency


AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA


BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY


Colorectal Cancer, Hereditary Nonpolyposis, Type 4


Corneal dystrophy and perceptive deafness


Corneal dystrophy, Fuchs' endothelial, 1


Corneal Dystrophy, Posterior Polymorphous, 2


CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA


CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA


DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET


Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp


GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9


HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA


HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2


LETHAL CONGENITAL CONTRACTURE SYNDROME 4


Mental Retardation, Autosomal Recessive 6


Mental Retardation, X-Linked, With Panhypopituitarism


MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE


MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY


Microphthalmia, Isolated, with Coloboma 3


MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY


Neuropathy ataxia and retinitis pigmentosa


Night Blindness, Congenital Stationary, Autosomal Dominant 1


PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET


Pituitary Hormone Deficiency, Combined, 1


Posterior column ataxia with retinitis pigmentosa


Short rib-polydactyly syndrome, Verma-Naumoff type


Spastic paraplegia 9, autosomal dominant


SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE


STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2


Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to


1H-Indene-2-carboxylic acid, 1-(1,3-benzodioxol-5-yl)-3-(2- (carboxymethoxy)-4-methoxyphenyl)-2,3-dihydro-5-propoxy-, (1S,2R,3S)-


ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS


Hypothyroidism, Congenital, Nongoitrous, 5


TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE


MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE


Auditory Neuropathy, Autosomal Dominant, 1


Blepharophimosis, Ptosis, and Epicanthus Inversus


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14


Bronchiectasis With Or Without Elevated Sweat Chloride 3


Cataract, congenital, with microcornea or slight microphthalmia


CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z


Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress


CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES


COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31


CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE


Congenital disorder of glycosylation type 1D


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp


Congenital Disorder Of Glycosylation, Type In


Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like


GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES


Growth Retardation, Developmental Delay, Coarse Facies, And Early Death


Histiocytosis with joint contractures and sensorineural deafness


HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES


Hyperuricemic Nephropathy, Familial Juvenile 2


HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA


Hypothyroidism, Congenital, Nongoitrous, 2


HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME


Indifference to Pain, Congenital, Autosomal Recessive


INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, KUMAR TYPE


Mental retardation, X-linked, syndromic 5


Mental Retardation, X-Linked, Syndromic, Turner Type


NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6


NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY


Neuropathy, Hereditary Sensory And Autonomic, Type IIB


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2


Pigmented Nodular Adrenocortical Disease, Primary, 2


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2


Rhizomelic chondrodysplasia punctata, type 3


SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE


SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE


SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY


Surfactant Metabolism Dysfunction, Pulmonary, 1


Surfactant Metabolism Dysfunction, Pulmonary, 2


THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS


Trichorhinophalangeal Syndrome, Type III


Tumoral Calcinosis, Normophosphatemic, Familial


NEUROPATHY, HEREDITARY SENSORY, TYPE IIC


Renal tubular acidosis, distal, autosomal recessive


Spastic Paraplegia 30, Autosomal Recessive


Split-Hand-Foot Malformation With Sensorineural Hearing Loss


AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5


ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5


Basal ganglia disease, biotin-responsive


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25


CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33


Diabetes Mellitus, Transient Neonatal, 3


EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE


Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness


HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA


HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105


LETHAL CONGENITAL CONTRACTURE SYNDROME 6


LETHAL CONGENITAL CONTRACTURE SYNDROME 7


MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13


Mental Retardation, Autosomal Recessive 5


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6


Myopathy, Hyaline Body, Autosomal Recessive


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15


Osteoarthritis with Mild Chondrodysplasia


Parietal Foramina With Cleidocranial Dysplasia


Platyspondylic Lethal Skeletal Dysplasia, Torrance Type


SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE


SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES


Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type


Stickler Syndrome, Type I, Nonsyndromic Ocular


Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc


CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F


HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12


1-(methylimino-N-oxy)-6-(2-morpholinoethoxy)-3-phenyl-1H-indene-2-carboxylic acid ethyl ester


46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS


Alpha-Beta T-Cell Lymphopenia with Gamma-Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity


Amelogenesis Imperfecta, Hypomaturation Type, Iia2


Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 1


ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13


Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome


Combined Cellular And Humoral Immune Defects With Granulomas


Diabetes Mellitus, Congenital Autoimmune


ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE


Familial Cold Autoinflammatory Syndrome 2


ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9


Immunodeficiency due to Defect in CD3-Zeta


IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY


Mycobacterium tuberculosis, susceptibility to infection by


Seborrhea-Like Dermatitis with Psoriasiform Elements


Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive


Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE


Charcot-Marie-Tooth Disease, Recessive Intermediate A


1-pentyfluoro-1H-indole-3-carboxylic acid 8-quinolinyl ester


1-pentyl-1H-indole-3-carboxylic acid 8-quinolinyl ester


(1R-(exo,exo))-3-(4-fluorophenyl)-8-methyl-8- azabicyclo(3.2.1)octane-2-carboxylic acid, methyl ester


EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2


T-cell immunodeficiency, congenital alopecia and nail dystrophy


2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester


CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F


Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive


Epilepsy, Myoclonic, Benign Adult Familial, Type 1


Familial encephalopathy with neuroserpin inclusion bodies


Mental Retardation, Autosomal Dominant 1


MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1


Microtia, Hearing Impairment, And Cleft Palate


MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION


Amelogenesis Imperfecta, Hypomaturation Type, Iia3


ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18


Candidiasis familial chronic mucocutaneous, autosomal recessive


CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC


CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi


Cortical Dysplasia-Focal Epilepsy Syndrome


Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia


ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1


EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY


HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA


HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1


Infantile convulsions and paroxysmal choreoathetosis, familial


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16


OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES


Spastic Paraplegia 44, Autosomal Recessive


Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis


THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA


Transient Myeloproliferative Disorder of Down Syndrome


AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6


Congenital, Hereditary, and Neonatal Diseases and Abnormalities


Hypophosphatemic Rickets, Autosomal Recessive, 1


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47


NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE


Neutrophil Chemotactic Response, Abnormal


TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5


3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME


Arthropathy, progressive pseudorheumatoid, of childhood


Cardiomyopathy, Familial Hypertrophic, 8


Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3


CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA


Congenital disorder of glycosylation type 1A


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq


CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC


Deafness, Sensorineural, And Male Infertility


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18


Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations


ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY


Epileptic Encephalopathy, Early Infantile, 4


Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant


Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia


HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT


INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13


Leukoencephalopathy, Cystic, Without Megalencephaly


Lubs X-linked mental retardation syndrome


Mental Retardation, Autosomal Dominant 3


Muscular Dystrophy, Limb-Girdle, Type 2L


Night Blindness, Congenital Stationary, Autosomal Dominant 2


Pigmented Paravenous Chorioretinal Atrophy


Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency


Skin-Hair-Eye Pigmentation, Variation In, 4


SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE


Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1


2-((2,6-dichlorophenyl)amino)benzeneacetic acid 4-(3H-1,2-dithiol-3-thione-5-yl)phenyl ester


Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1


Dentinogenesis imperfecta, shields type 3


MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2


2,2-dimethyl-3-(4-(naphthalen-2-ylamino)phenyl)-3-(1,2,4)triazol-1-yl-propionic acid methyl ester


AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS


PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING


VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1


2-(2-oxo-2-((3,7,11-trimethyl-2,6,10-dodecatrienyl)oxy)aminoethyl)phosphonic acid, (2,2-dimethyl-1-oxopropoxy)methyl ester sodium


CARDIAC CONDUCTION DISEASE WITH OR WITHOUT CARDIOMYOPATHY 1


Cataract, Congenital Zonular, with Sutural Opacities


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15


CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3


Microcephaly, Primary Autosomal Recessive, 3


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7


Myasthenic syndrome, congenital, postsynaptic slow-channel


NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4


PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE


PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)


Pyruvate dehydrogenase phosphatase deficiency


RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS


Early-onset ataxia with oculomotor apraxia and hypoalbuminemia


Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation


Cardiomyopathy, Familial Hypertrophic, 13


Hypertelorism with esophageal abnormality and hypospadias


Absent corpus callosum cataract immunodeficiency


Bifid Nose With Or Without Anorectal And Renal Anomalies


Cardiomyopathy, Familial Hypertrophic, 10


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39


KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM


Microphthalmia, Isolated, with Cataract 2


MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS


Multiple Pterygium Syndrome, Autosomal Dominant


MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES


Neuropathy, Distal Hereditary Motor, Type VIIA


Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness


Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq


MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION


Saethre-Chotzen Syndrome with Eyelid Anomalies


Xeroderma Pigmentosum, Complementation Group E


2,3-dimercaptosuccinic acid monocyclohexyl ester


Chronic Kidney Disease-Mineral and Bone Disorder


Congenital disorder of glycosylation, type 2G


2,4-dichlorophenoxyacetic acid isooctyl ester


Arrhythmogenic Right Ventricular Dysplasia, Familial, 11


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14


GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1


LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4


SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE


Spinal muscular atrophy with respiratory distress 1


Wilson-Turner X-linked mental retardation syndrome


2-(4-isobutylphenyl)propionic acid 4-(diethoxyphosphoryloxy)butyl ester


ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38


2-(acetyloxy)benzoic acid 6-(nitrooxymethyl)-2-phenylmethyl ester


Combined Malonic and Methylmalonic Aciduria


Arthrogryposis multiplex congenita neurogenic type


2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid ethyl amide


2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid methyl amide


2-methoxy-4-amino-5-chlorobenzoic acid 2-(diethylamino)ethyl ester


Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility


2-methyl-3-(2-((4-nitrooxybutyloxy)carbonyl)vinyl)phenyl ursodeoxycholic acid ester


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7


AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4


Foveal Hypoplasia and Anterior Segment Dysgenesis


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 43


INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS


MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES


NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4


SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE


3-(4-(4-((1-(2-chlorophenyl)ethoxy)carbonyl amino)-3-methyl-5-isoxazolyl) benzylsulfanyl) propanoic acid


Autoimmune polyendocrinopathy syndrome, type 1


Cardiomyopathy, Familial Hypertrophic, 4


MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 13


MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18


Hypophosphatemic Rickets with Hypercalciuria, Hereditary


3-(4-hydroxyphenyl)-4,5-dihydro-5-isoxazoleacetic acid methyl ester


AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1


3,5-dibromo-4-(3,4-dimethoxyphenyl)-1H-pyrrole-2-carboxylic acid ethyl ester


ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8


Microcephalic osteodysplastic primordial dwarfism, type 1


3-adenin-9-yl-2-hydroxypropanoic acid isobutyl ester


3beta-(4-chlorophenyl) tropane-2beta-(3-(4'-methylphenyl) isoxazol-5-yl) hydrochloride


3-bromoacetylamino benzoic acid ethyl ester


3-hydroxylup-20(29)-ene-27,28-dioic acid dimethyl ester


3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethyl-5-nitro-4-(2-(trifluoromethyl)phenyl)-, Methyl ester


4-(2-(4-chlorophenyl)ethyl)-1-piperidinecarboxylic acid 2-(methylamino)-2-oxoethyl ester


4(4-(5-nitro-furan-2-ylmethylene)-3,5-dioxo-pyrazolidin-1-yl)-benzoic acid ethyl ester


4-(((4-carboxybutyl) (2- (5-fluoro-2-((4'-(trifluoromethyl) biphenyl-4-yl)methoxy)phenyl)ethyl) amino)methyl)benzoic acid


DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 1


Hypotrichosis, Localized, Autosomal Recessive 1


Spastic Paraplegia-50, Autosomal Recessive


Craniometaphyseal Dysplasia, Autosomal Dominant


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37


HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA


Hypopituitarism and septooptic 'dysplasia'


Prieto X-linked mental retardation syndrome


4,5-dihydropyrazole-1,5-dicarboxylic acid 1-((4-chlorophenyl)-amide) 5-(2-oxo-2H-(1,3')bipyridinyl-6'-yl)-amide


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII


HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA


IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS


INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52


Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related


4-(nitroxy)butanoic acid 4-acetylaminophenyl ester


Birk-Barel Mental Retardation Dysmorphism Syndrome


5-pregnene-3 beta,17 alpha,20 alpha-triol


5(S),6(R)-7-trihydroxyheptanoic acid, methyl ester


6,8-diallyl 5,7-dihydroxy 2-(2-allyl 3-hydroxy 4-methoxyphenyl)1-H benzo(b)pyran-4-one


6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt


7,7'-dimethoxy-(4,4'-bi-1,3-benzodioxole)-5,5'-dicarboxylic acid dimethyl ester


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY


SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT


7-(hydroxyimino)cyclopropan(b)chromen-1a-carbxoylic acid ethyl ester


9-(benzoyloxy)-2-(3-furanyl)dodecahydro-6a,10b-dimethyl-4,10-dioxo-2H-naphtho(2,1-c)pyran-7-carboxylic acid methyl ester


abacavir, lamivudine, and zidovudine drug combination


Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly


Spinocerebellar ataxia, autosomal recessive 5


THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2


DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40


Chemical and Drug Induced Liver Injury, Chronic


Corneal Dystrophy, Juvenile Epithelial of Meesmann


Hypomagnesemia 5, Renal, with Ocular Involvement


acetaminophen, aspirin, caffeine drug combination


acetaminophen, dextropropoxyphene, drug combination


acetaminophen, hydrocodone drug combination


Idiopathic intracranial hypertension with papilledema


acetylenedicarboxylic acid dimethyl ester


acidic oligosaccharide sugar chain, Echlonia Kurome Okam


NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII


Tachycardia, Atrioventricular Nodal Reentry


FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5


NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO


CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED


AIEOP acute lymphoblastic leukemia protocol


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15


Craniosynostosis, anal anomalies, and porokeratosis


Myopathy, Mitochondrial, Lethal Infantile


Noninsulin-dependent diabetes mellitus with deafness


alginate, aluminium hydroxide, magnesium trisilicate, sodium bicarbonate drug combination


alginic acid, nitrofurazone drug combination


algininic acid, mafenide drug combination


Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis


allopurinol, benzbromarone drug combination


alpha helical corticotropin-releasing hormone


aluminium hydroxide, magnesium carbonate drug combination


aluminum hydroxide, magnesium hydroxide, drug combination


aluminum hydroxide, magnesium hydroxide, simethicone drug combination


Amb a I protein, Ambrosia artemisiifolia


Anemia, Refractory, with Excess of Blasts


amiloride, hydrochlorothiazide drug combination


aminopyrine, dexamethasone, phenylbutazone, thiamine, vitamin B12 drug combination


amitriptyline, perphenazine drug combination


amlodipine, atorvastatin drug combination


AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO


Cataract, Autosomal Recessive Congenital 3


Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1


PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL


amodiaquine, artesunate drug combination


amphotericin B, deoxycholate drug combination


anticoagulation factor II, Agkistrodon acutus


Central Nervous System Fungal Infections


APEKTx1 peptide, Anthopleura elegantissima


APETx2 protein, Anthopleura elegantissima


Leukoencephalopathy Brain Calcifications and Cysts


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo


Artemether, Lumefantrine Drug Combination


Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction


Lead Poisoning, Nervous System, Childhood


aspirin, butalbital and caffeine drug combination


aspirin, caffeine, phenacetin drug combination


aspirin, caffeine, salicylamide drug combination


aspirin, codeine, phenacetin drug combination


Aspirin-oxycodone hydrochloride-oxycodone terephthalate combination


atenolol, chlortalidone drug combinations


bacitracin zinc, neomycin sulfate, polymyxin B, drug combination


benzathine benzylpenicillin, procaine benzylpenicillin, drug combination


Martin-Probst Deafness-Mental Retardation Syndrome


benzocaine, butyl aminobenzoate, tetracaine drug combination


benzyloxycarbonyl-alanyl-glutamyl-valyl-aspartic acid fluoromethyl ketone


benzyloxycarbonyl-isoleucyl-glutamyl-threonyl-aspartic acid fluoromethyl ketone


benzyloxycarbonyl-leucyl-glutamyl-histidyl-aspartic acid fluoromethyl ketone


benzyloxycarbonyltyrosyl-valyl-alanyl-aspartic acid fluoromethyl ketone


beta-adrenergic receptor kinase inhibitory peptide


beta-carboline-3-carboxylic acid ethyl ester


beta-carboline-3-carboxylic acid methyl ester


bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)


Postural Orthostatic Tachycardia Syndrome


boric acid, nitrofurazone, procaine drug combination


bovine serum albumin-corticosterone conjugate


brallobarbital, hydroxyzine, secobarbital drug combination


brompheniramine, pseudoephedrine drug combination


Buprenorphine, Naloxone Drug Combination


butaphosphan, cyanocobalamin drug combination


caffeine, chlorpheniramine, dihydrocodeine, methylephedrine drug combination


caffeine, codeine, acetaminophen, propyphenazone drug combination


caffeine, sodium benzoate drug combination


camphor, cedar leaf oil, eucalyptus oil, menthol, myristica oil, terebinth oil, thymol drug combination


captopril, hydrochlorothiazide drug combination


Acute Generalized Exanthematous Pustulosis


carbamothioic acid, S,S'-(2-(dimethylamino)-1,3-propanediyl) ester


Carbamoyl Phosphate Synthetase I Activators


Anti-Glomerular Basement Membrane Disease


Monoclonal Gammopathy of Undetermined Significance


Carbonyl Cyanide m-Chlorophenyl Hydrazone


Central Nervous System Bacterial Infections


cetylpyridinium chloride, zinc acetate drug combination


chlordiazepoxide, clidinium drug combination


chlorhexidine gluconate, lidocaine drug combination


Pathological Conditions, Signs and Symptoms


chromium (III) beta,gamma-bidentate guanosine triphosphate


chromium (III) bidentate guanosine 5'-(beta,gamma-imido)triphosphate


cis-9, trans-11-conjugated linoleic acid


cisplatin-deoxy(guanosine monophosphate guanosine) adduct


clopamide, dihydroergotoxine, reserpine drug combination


cobalt-ethylenediamine tetraacetic acid chelate


Temporomandibular Joint Dysfunction Syndrome


copper pyruvaldehyde bis(N(4)-methylthiosemicarbazone) complex


Corticotropin-Like Intermediate Lobe Peptide


cyclic guanosine monophosphate-adenosine monophosphate


cyclohexyl carbamic acid 3'-carbamoylbiphenyl-3-yl ester


cyclohexylcarbamic acid biphenyl-3-yl ester


cyclohexyl carbonic acid 3'-carbamoyl-3-yl ester


cyclothiazide, triamterene drug combination


Cyproterone acetate, ethinyl estradiol drug combination


decanedioic acid-4,4'-(1,3-propanediylbis(oxy))bis(benzoic acid) copolymer


Porcine Reproductive and Respiratory Syndrome


Dermatophagoides pteronyssinus antigen p 1


Dermatophagoides pteronyssinus antigen p 2


Derp2 allergen, Dermatophagoides pteronyssinus


dexamethasone, neomycin, polymyxin B drug combination


dextromethorphan - quinidine combination


Hyperglycemic Hyperosmolar Nonketotic Coma


Dibenz(b,f)(1,4)oxazepine-10(11H)-carboxylic acid, 8-chloro-, 2-acetylhydrazide


dicyclomine, doxylamine, pyridoxine drug combination


diethyl 2-phenyl-2 tellurophenyl vinylphosphonate


diethylene glycol dimethacrylate monomer


Isolated Noncompaction of the Ventricular Myocardium


difebarbamate, febarbamate, phenobarbital drug combination


dinitrophenyl-human serum albumin conjugate


Esophageal atresia with or without tracheoesophageal fistula


drospirenone and ethinyl estradiol combination


Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination


efavirenz, lamivudine, tenofovir disoproxil fumarate drug combination


Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination


Chronic Kidney Diseases of Uncertain Etiology


enkephalin-Leu, Ala(2)-melphalan methyl ester-


estradiol benzoate, testosterone propionate drug combination


estradiol, norethindrone drug combination


ethinyl estradiol, levonorgestrel drug combination


ethosuximide, quinacrine drug combination


eugenol, zinc oxide dental cavity lining


Epileptic encephalopathy, Lennox-Gastaut type


fluorescein isothiocyanate bovine serum albumin


fructus schizandrae, radix ginseng, radix ophiopogonis drug combination


gelatin, glycerin, zinc oxide drug combination


Glial Cell Line-Derived Neurotrophic Factor


Glucagon-Like Peptide-1 Receptor Agonists


glucose, glycerol, hydroxyethyl starch, perfluorodecalin, perfluorotripropylamine, pluronic F-68, salts, yolk phospholipids drug combination


gp120 protein, Human immunodeficiency virus 1


Gramicidin, Neomycin Sulfate, Nystatin, Triamcinolone Acetonide Drug Combination


Familial cerebral cavernous malformation


hydrochlorothiazide, lisinopril drug combination


hydrocortisone, neomycin, polymyxin B drug combination


hydroxy-2-naphthalenyl-methyl phosphonic acid trisacetoxymethylester


indapamide, perindopril drug combination


insecticidal crystal protein, Bacillus Thuringiensis


Interleukin 1 Receptor Antagonist Protein


interleukin 6-interleukin 6 receptor fusion protein, recombinant


isoleucyl-glutamyl-threonyl-aspartic acid fluoromethyl ketone


isoniazid, pyrazinamide, rifampin drug combination


Metabolic Side Effects of Drugs and Substances


lipopolysaccharide, Escherichia coli O111 B4


Speech disturbance - use of faulty phrasing and unrelated words


Lys49-phospholipase A2, Bothrops lternatus


malondialdehyde-low density lipoprotein, human


manganese tetrakis-(N-ethyl-2 pyridyl) porphyrin


manganese tetrakis-(N-methyl-2 pyridyl) porphyrin


methanol extraction residue (MER) tubercle bacillus fraction


Rapidly progressive glomerulonephritis with pulmonary hemorrhage


Ovotesticular Disorders of Sex Development


Polyradiculoneuropathy, Chronic Inflammatory Demyelinating


Hearing Loss, Mixed Conductive-Sensorineural


mineral acids, trace elements, water, drug combination


myelin oligodendrocyte glycoprotein (35-55)


myristoylated autocamtide-2-related inhibitory peptide


N-3-(3-(3-methoxy-4-oxazol-5-ylphenyl)ureido)benzylcarbamic acid tetrahydrofuran-3-yl ester


N-(3-aminopropyl)-2-(((3-methylphenyl) methyl)oxy)-N-(2-thienylmethyl)benzamide hydrochloride salt


N-(4-(3-((4-fluorophenyl)hydroxymethyl)-4-hydroxyphenoxy)-3,5-dimethylphenyl) malonamic acid sodium


Juvenile pauciarticular chronic arthritis


N-ethyl perfluorooctane sulfonamido acetate


norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination


norgestimate, ethinyl estradiol drug combination


(N-propargyl-(3R) aminoindan-5-yl)-ethyl methyl carbamate


Nucleic Acids, Nucleotides, and Nucleosides


octanedioic acid (1-(3-azido-5-azidomethylbenzyl)-1H-pyrazol-4-yl)amide hydroxyamide


Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules


papaverine, phentolamine drug combination


Myasthenia Gravis, Autoimmune, Experimental


Myasthenia Gravis with Thymus Hyperplasia


Thrombotic thrombocytopenic purpura, acquired


ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8


P-glycoprotein inducer and activator TX5