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Neonatal Diabetes Mellitus with Congenital Hypothyroidism Eiken Syndrome Disorder of Carbohydrate Metabolism Anonychia Congenita Totalis Familial Reactive Perforating Collagenosis Elastosis perforans serpiginosa Disorder of Pyrimidine Metabolism Disorder of Purine Metabolism Disorder of Glycerol Metabolism Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Hereditary Hypotrichosis Simplex Atrichia with Papular Lesions X-Linked Membranoproliferative Glomerulonephritis Sarcocystosis Mazabraud Syndrome Sorsby's Fundus Dystrophy Fazio-Londe Disease SUNCT Syndrome Pulmonary Nodular Lymphoid Hyperplasia McLeod Neuroacanthocytosis Syndrome Gestational Trophoblastic Neoplasm Idiopathic Bronchiectasis Recurrent Respiratory Papillomatosis Pudendal Neuralgia IgG4-Related Mediastinitis Linear IgA Dermatosis Craniorachischisis Recurrent Acute Pancreatitis Pulmonary Blastoma Hepatoportal Sclerosis Iridocorneal Endothelial Syndrome Oroya Fever Granulomatous Mastitis Childhood Absence Epilepsy Tarlov Cyst Chronic Thyroiditis Monomelic Amyotrophy Benign Recurrent Intrahepatic Cholestasis Isolated Partial Vaginal Agenesis Congenital Pseudoarthrosis of Clavicle Cutaneous Mastocytosis B-Cell Chronic Lymphocytic Leukemia Segmental Odontomaxillary Dysplasia 3-Methylglutaconic Aciduria Type 4 Nephrotic Syndrome with Minimal Changes Anhidrotic Ectodermal Dysplasia - Immunodeficiency - Osteopetrosis - Lymphedema Syndrome Anonychia with Flexural Pigmentation Athabaskan Brainstem Dysgenesis Syndrome Warty Dyskeratoma Cholangiocarcinoma Meconium Aspiration Syndrome Posttransplant Lymphoproliferative Disease Bronchopulmonary Dysplasia Retinal Cavernous Hemangioma Rh Deficiency Syndrome Renal Nutcracker Syndrome Hypoalphalipoproteinemia Nocardiosis Rat-Bite Fever Ethylene Glycol Poisoning Hypersensitivity Pneumonitis due to Other Organic Dusts Kimura Disease Susac Syndrome Junctional Epidermolysis Bullosa Familial Cylindromatosis Dyschromatosis Universalis Hereditaria Hyperkeratosis Lenticularis Perstans Syringocystadenoma Papilliferum Tinea barbae and Tinea capitis Proliferating Trichilemmal Cyst Acquired Hypertrichosis Lanuginosa Hereditary Hypotrichosis Type Marie Unna Trichofolliculoma Acquired Kinky Hair Syndrome Familial Atrial Myxoma Familial Atrial Fibrillation Type 2 Pulmonary Branch Stenosis Congenital Mitral Stenosis Central Precocious Puberty Type 1 Adrenal Incidentaloma Reflex Epilepsy Fetal and Neonatal Alloimmune Thrombocytopenia Prekallikrein Deficiency, Congenital, Autosomal Recessive Hypoplasminogenemia Atresia of Urethra Acquired Ichthyosis Familial Keratoacanthoma Hereditary Leiomyomatosis and Renal Cell Cancer Brooke-Spiegler Syndrome Peeling Skin Syndrome Wells Syndrome Hypogonadotropic Hypogonadism Type 7 Tungiasis DEND Syndrome Heterotaxia Echinococcus Granulosus Infection Echinococcus Granulosus Infection of Other Sites Echinococcus Granulosus Infection of Bone Echinococcus Granulosus Infection of Lung Echinococcus Granulosus Infection of Liver Hymenolepiasis Creeping Myiasis Loose Anagen Syndrome Crandall Syndrome Erosive Pustular Dermatosis of the Scalp Acute Erythremia Wagner Disease Pseudopelade of Brocq Angiostrongyliasis due to Parastrongylus Cantonensis Strongyloidiasis Demodicosis Diphyllobothriasis Tick-Borne Encephalitis Epidermodysplasia Verruciformis Amoebiasis due to Free-Living Amoebae Limb-Girdle Muscular Dystrophy Type 2F Accessory Pancreas Diphallia Congenital Stenosis of the Cervical Spinal Canal Acquired Coagulation Factor Deficiency Hereditary Diffuse Gastric Cancer Juvenile Temporal Arteritis Multiple System Atrophy Familial Hyperaldosteronism Type 2 Epilepsy with Continuous Spike-and-Slow-Waves during Sleep Apparent Mineralocorticoid Excess Hereditary Pheochromocytoma-Paraganglioma Familial Ossifying Fibroma Anterior Urethral Valve Adenocarcinoma of Gallbladder and Extrahepatic Biliary Tract Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract Squamous Cell Carcinoma of Rectum Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome Clear Cell Renal Cell Carcinoma Sotos Syndrome Type 2 Disorders of Visual Cortex Familial Chylomicronemia Syndrome Hypothalamic Adipsic Hypernatraemia Syndrome Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency Orthostatic Intolerance due to NET Deficiency Maturity-Onset Diabetes of the Young Maturity-Onset Diabetes of the Young Type 2 MODY Type 1 Central Serous Chorioretinopathy ABri Amyloidosis ADan Amyloidosis Pediatric Arterial Ischemic Stroke Placental Insufficiency Zinc-Responsive Necrolytic Acral Erythema GCGR-Related Hyperglucagonemia Human Infection by Orthopoxvirus Thrombomodulin-Related Bleeding Disorder Hereditary Cryohydrocytosis with Normal Stomatin Neonatal Scleroderma Avascular Necrosis of Genetic Origin Deep Dermatophytosis CEP19 Deficiency X-Linked Osteoporosis with Fractures Xanthomatosis, Susceptibility to Transient Neonatal Myasthenia Gravis Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum Pulmonary Non-Tuberculous Mycobacterial Infection Hereditary Late-Onset Parkinson Disease Secondary Polyarteritis nodosa Female Infertility due to Fertilization Defect Scott Syndrome Familial Bicuspid Aortic Valve Female Infertility due to Anovulation Female Infertility due to an Implantation Defect of Genetic Origin Autosomal Recessive Spastic Paraplegia Type 64 Autosomal Recessive Spastic Paraplegia Type 63 Proximal Myopathy with Extrapyramidal Signs Autosomal Recessive Spastic Paraplegia Type 61 Familial Exudative Vitreoretinopathy Exudative Vitreoretinopathy Type 3 Exudative Vitreoretinopathy Type 2 Occipital Horn Syndrome Familial Isolated Congenital Asplenia Idiopathic Spontaneous Coronary Artery Dissection IgG4-Related Kidney Disease IgG4-Related Aortitis Mannose-Binding Lectin Deficiency IgG4-Related Ophthalmic Disease Eosinophilic Angiocentric Fibrosis Polyclonal Hypergammaglobulinemia Familial Congenital Nasolacrimal Duct Obstruction Anti-p200 Pemphigoid Isolated Tracheo-Esophageal Fistula Holmes-Adie Syndrome X-linked myotubular myopathy-abnormal genitalia syndrome Pituitary Gland Carcinoma Syndactyly (Feet) Acheiria, unilateral Non-Infectious Anterior Uveitis PTEN Hamartoma Tumor Syndrome Nephrotic Syndrome Type 5 Chronic Diarrhea due to Glucoamylase Deficiency ALK-Negative Anaplastic Large-Cell Lymphoma Amyotrophic Lateral Sclerosis Type 5 Hairy Cell Leukemia Variant T-Cell-Rich Large B Cell Lymphoma Staphylococcal Toxemia Oligodontia-Cancer Predisposition Syndrome Autosomal Recessive Infantile Hypercalcemia Juvenile Sandhoff Disease Adult Sandhoff Disease Infantile Sandhoff Disease Gangliosidosis Juvenile Metachromatic Leukodystrophy GM2-Gangliosidosis Variant AB Adult Metachromatic Leukodystrophy Microcephalic Osteodysplastic Primordial Dwarfism Type II Chordoma Familial Apolipoprotein C-II Deficiency Combined Pancreatic Lipase - Colipase Deficiency Disorder of Lipid Metabolism Branched-Chain Ketoacid Dehydrogenase Deficiency Disorder of Beta and Omega Amino Acid Metabolism Carbon Monoxide-Induced Parkinsonism Diffuse Palmoplantar Keratoderma Ameloblastic Carcinoma Levy-Shanske Syndrome Optic Nerve Edema-Splenomegaly Syndrome Disorder of Catecholamine Synthesis Disorder of Manganese Transport Reversible Cerebral Vasoconstriction Syndrome Pleuropulmonary Blastoma IgG4 Syndrome Serpiginous Choroiditis Panuveitis Hypocalcemic Vitamin D-Dependent Rickets Autosomal Recessive Hypophosphatemic Rickets Type 2 Infective Dermatitis Associated with HTLV-1 Familial Vesicoureteral Reflux Marfan Syndrome Type 2 Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection Acute Zonal Occult Outer Retinopathy Adult Idiopathic Neutropenia Kinsbourne Syndrome Wissler-Fanconi Syndrome 46,XX Testicular Disorder of Sex Development 46,XX Sex Reversal Type 2 Pleomorphic Rhabdomyosarcoma Acute Generalized Exanthematous Pustulosis Insulin-Resistance Syndrome Type B Familial Mitral Valve Prolapse Neutropenia and Hyperlymphocytosis with Large Granular Lymphocytes Epstein-Barr Virus-Associated Lymphoproliferative Disorder Plasmablastic Lymphoma Myopericytoma Transient Hyperammonemia of the Newborn Congenital Absence of Both Lower Leg and Foot Apodia Congenital Absence of both Forearm and Hand Congenital Absence of Thigh and Lower Leg with Foot Present Congenital Pseudoarthrosis of the Tibia Congenital Elbow Dislocation Congenital Shoulder Dislocation Amelia of Upper Limb Upper Limb Hypertrophy Radial Hemimelia Amelia of Lower Limb Congenital Absence of Upper Arm and Forearm with Hand Present Fibular Hemimelia Non-Syndromic Tibial Hemimelia Congenital Longitudinal Deficiency of the Ulna Fixed Pigmented Erythema Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome Congenital Deformities of Limbs Autosomal Dominant Mental Retardation Type 26 Oncogenic Osteomalacia Coloboma of Choroid and Retina Ocular Albinism with Congenital Sensorineural Deafness Familial Primary Localized Cutaneous Amyloidosis Oculocutaneous Albinism Type 1 Bainbridge-Ropers Syndrome Oral Submucous Fibrosis New-Onset Refractory Status Epilepticus Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia Familial Benign Flecked Retina Hydroa Vacciniforme-Like Lymphoma Acute Infantile Liver Failure-Multisystemic Involvement Syndrome Oculocutaneous Albinism Type 6 Mixed Functioning Pituitary Adenoma SHOX-Related Short Stature Congenital Malformations of Other Endocrine Glands Acquired Porencephaly Mycobacterium xenopi Infection Venezuelan Hemorrhagic Fever Fanconi Anemia Complementation Group D1 Familial Papillary or Follicular Thyroid Carcinoma Translocation Renal Cell Carcinoma Chromophobe Renal Cell Carcinoma Papillary Renal Cell Carcinoma Hantavirus Pulmonary Syndrome Retinal Macular Dystrophy Type 2 Constitutional Megaloblastic Anemia due to Folate Metabolism Disorder Immunodeficiency Type 27B X-linked Cleft Palate and Ankyloglossia Chikungunya Hendra Virus Infection Chronic Recurrent Multifocal Osteomyelitis Leydig Cell Hypoplasia due to LHB Deficiency Immunoglobulin-Mediated Membranoproliferative Gomerulonephritis Acute Nephritic Syndrome with Diffuse Membranoproliferative Glomerulonephritis Lipoprotein Glomerulopathy Hemoglobin Lepore-Beta-Thalassemia Syndrome Immunodeficiency due to Ficolin 3 Deficiency Immunodeficiency due to MASP-2 Deficiency Immunodeficiency Predominantly Affecting Antibody Production Nijmegen Breakage Syndrome-Like Disorder Cisplatin Toxicity Efavirenz Toxicity Primary Orthostatic Tremor Megacystis - Megaureter Syndrome Familial Hypercholanemia Familial Congenital Mirror Movements Generalized Dominant Dystrophic Epidermolysis bullosa Congenital Trigeminal Anesthesia Erythema Palmaris Hereditarium Acromelanosis Atypical Teratoid Rhabdoid Tumor Familial Hypocalciuric Hypercalcemia Type 3 Familial Cerebral Saccular Aneurysm Chronic Diarrhea with Villous Atrophy Usher Syndrome Type 2 Autosomal Recessive Distal Renal Tubular Acidosis Renal Tubular Acidosis Type 1 Oromandibular Dystonia Alpha-Thalassemia - Myelodysplasia Syndrome Acute Pandysautonomia Idiopathic Orthostatic Hypotension Pure Autonomic Failure Idiopathic Camptocormia Benign Familial Infantile Epilepsy Type 4 Baló Concentric Sclerosis Leiomyoma of Vulva and Esophagus Non-Brugada-Type Idiopathic Ventricular Fibrillation Overhydrated Hereditary Stomatocytosis Acquired Cutis Laxa Primary Anetoderma Anetoderma Type Jadassohn-Pellizzari Anetoderma Type Schweninger-Buzzi Acquired Pseudoxanthoma elasticum Elastoderma Food-Borne Botulism Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Familial Pancreatic Carcinoma Klippel-Feil Syndrome Type 3 Autosomal Recessive Agammaglobulinemia Butyrylcholinesterase Deficiency Adult Fanconi Syndrome Primary Syringomyelia Anophthalmia - Microphthalmia Syndrome Congenital Cystic Eyeball Dent Disease Autosomal Dominant Larsen Syndrome Y-Linked Pseudoautosomal Hodgkin Lymphoma X-Linked Pseudoautosomal Hodgkin Lymphoma Malignant Peripheral Nerve Sheath Tumor Neuroepithelioma Solitary Fibrous Tumor Acute Lymphoblastic Leukemia with Lymphomatous Features Hereditary Breast Cancer Primary Cutaneous Anaplastic Large-Cell Lymphoma Hughes-Stovin Syndrome Toxic Oil Syndrome Testicular Germ Cell Tumor Fowler Syndrome Hemochromatosis Type 3 Familial Cerebral Cavernous Malformation Dural Sinus Malformation Anemia due to Adenosine Triphosphatase Deficiency Hereditary Sclerosing Poikiloderma Cranial Neuralgia Familial Dyskinesia and Facial Myokymia Lymphangioleiomyomatosis Hereditary Breast and Ovarian Cancer Syndrome RAD51D-Associated Hereditary Breast and Ovarian Cancer Syndrome RAD51C-Associated Hereditary Breast and Ovarian Cancer Syndrome Hyperdibasic Aminoaciduria Type 1 Lysinuric Protein Intolerance Joubert Syndrome Type 7 Laron Syndrome with Immunodeficiency Bleeding Diathesis due to Thromboxane Receptor A2 Defect Dicarboxylic Aminoaciduria Hyperlysinemia Type 1 Congenital Fibrinogen Deficiency Plague Primary Cutaneous Lymphoma Aortopulmonary Fistula Familial Pulmonary Arterial Hypertension Double Outlet Left Ventricle Aortic Arch Interruption Combined Oxidative Phosphorylation Defect Type 8 Discrete Fibromuscular Subaortic Stenosis Sensorineural Deafness with Dilated Cardiomyopathy Anomaly of Coronary Vessels Congenital Pulmonary Valve Insufficiency Pulmonary Atresia with Ventricular Septal Defect Abnormal Origin of the Pulmonary Artery Aneurysm of Sinus of Valsalva X-linked Cardiac Valvular Dysplasia Neonatal Acute Respiratory Distress due to SP-B Deficiency Autoimmune Interstitial Lung Disease - Arthritis Syndrome Pulmonary Interstitial Glycogenosis Microsporidiosis Hantavirosis Congenital Microcoria Cysticercosis of Eye West African Trypanosomiasis Chronic Epstein-Barr Virus Infection Syndrome Pouchitis Sézary Syndrome Birdshot Chorioretinopathy MC3R Deficiency Glycogen Storage Disease due to GLUT2 Deficiency Acrofacial Dysostosis Type Palagonia Familial Glucocorticoid Deficiency Ring Chromosome 17 Osteogenesis Imperfecta Type 5 Double Uterus - Hemivagina - Renal Agenesis Syndrome Syndactyly - Polydactyly - Ear Lobe Syndrome Congenital Radioulnar Synostosis Familial Variable Immunodeficiency Common Variable Immunodeficiency with Autoantibodies to B- or T-Cells Common Variable Immunodeficiency with Predominant Immunoregulatory T-Cell Disorders Common Variable Immunodeficiency with Predominant Abnormalities of B-Cell Numbers and Functions Aorto-Left Ventricular Tunnel Congenital Pulmonary Valve Stenosis Uterine Sarcoma Subpulmonary Stenosis Absence of Innominate Vein Congenitally Uncorrected Transposition of the Great Arteries Congenital Pulmonary Veins Atresia or Stenosis Susceptibility to Malignant Cutaneous Melanoma 9 Familial Atypical Multiple Mole Melanoma Syndrome Familial Melanoma Familial Melanoma of the Eyelid Familial Melanoma of the Lip Rhizomelic Chondrodysplasia Punctata 2-Aminoadipic 2-Oxoadipic Aciduria Congenital Disorder of Glycosylation Kaposiform Hemangioendothelioma Rare Arteriovenous Malformation Nephronophthisis 9 Nephronophthisis 12 Nephronophthisis 7 Nephrotic Syndrome Type 10 Focal Segmental Glomerulosclerosis Type 5 Focal Segmental Glomerulosclerosis Type 3 Focal Segmental Glomerulosclerosis Type 2 Segmental Glomerulosclerosis Nephrotic Syndrome with Diffuse Mesangial Proliferative Glomerulonephritis Lymphatic Filariasis Tufted Angioma Spindle Cell Hemangioma Amoebiasis due to Entamoeba histolytica Spastic Quadriplegic Cerebral Palsy Type 2 Mal de Débarquement Rhegmatogenous Retinal Detachment Extraskeletal Myxoid Chondrosarcoma Sacral Hemangiomas - Multiple Congenital Abnormalities Syndrome Idiopathic Copper-Associated Cirrhosis Developmental Verbal Dyspraxia Solitary Rectal Ulcer Syndrome Celiac Disease, Epilepsy and Cerebral Calcification Syndrome Constitutional Anemia due to Iron Metabolism Disorder Umbilical Cord Ulceration-Intestinal Atresia Syndrome Autosomal Recessive Osteopetrosis Type 6 Siegler-Brewer-Carey Syndrome Sacrococcygeal Dysgenesis Association Hirschsprung Disease - Ganglioneuroblastoma Syndrome Craniosynostosis Type 2 Brachydactylous Dwarfism Type Mseleni Progeroid Syndrome Type Petty Arthrogryposis-Hyperkeratosis Syndrome, Lethal Form Radio-Ulnar Synostosis - Retinal Pigment Abnormalities Syndrome Myopathy, Endocrine Bacterial Myositis X-Linked Syndromic Mental Retardation Type Hyde-Forster Feigenbaum-Bergeron-Richardson Syndrome Succinic Acidemia Bardet-Biedl Syndrome Lynch Syndrome Hereditary Multiple Exostoses Type 3 Liver Congenital Amaurosis Type 11 Leber Congenital Amaurosis Type 8 Leber Congenital Amaurosis Type 7 Leber Congenital Amaurosis Type 6 Leber Congenital Amaurosis Type 10 Leber Congenital Amaurosis Type 12 Leber Congenital Amaurosis Type 5 Leber Congenital Amaurosis Type 2 Retinal Aplasia Granulomatous Myositis X-Linked Mental Retardation Type 44 X-Linked Mental Retardation Type 1 X-Linked Mental Retardation Type 88 X-Linked Mental Retardation Type 92 X-Linked Mental Retardation Type 41 X-Linked Mental Retardation Type 89 X-Linked Mental Retardation Type 19 X-Linked Mental Retardation Type 97 X-Linked Mental Retardation Type 95 Xp11.22 Duplication Syndrome X-Linked Mental Retardation Type 82 X-Linked Mental Retardation Type 84 X-Linked Mental Retardation Type 45 X-Linked Mental Retardation Type 77 X-Linked Mental Retardation Type 81 X-Linked Mental Retardation Type 2 ARX-Related X-Linked Mental Retardation X-Linked Mental Retardation Type 63 X-Linked Mental Retardation Type 42 X-Linked Mental Retardation Type 73 X-Linked Mental Retardation Type 53 X-Linked Mental Retardation Type 58 X-linked Mental Retardation Type 50 Raynaud-Claes Syndrome X-Linked Mental Retardation Type 14 X-linked Mental Retardation Type 20 X-Linked Mental Retardation Type 23 Familial Thoracic Aortic Aneurysm 1 Aortic Dissection Xeroderma Pigmentosum-Cockayne Syndrome Complex Hereditary Spherocytosis Type 5 Hereditary Spherocytosis Type 4 Hereditary Spherocytosis Type 3 Hypogonadotropic Hypogonadism Type 9 Kallmann Syndrome Type 6 Kallmann Syndrome Type 5 Kallmann Syndrome Type 1 Gonadoblastoma Benign Ovarian Neoplasm Adult Krabbe Disease Autoimmune Necrotizing Myopathy Infundibulopelvic Stenosis - Multicystic Kidney Syndrome Malignant Ovarian Neoplasm Hypospadias Perineal Hypospadias Penoscrotal Hypospadias Familial Hypospadias Panayiotopoulos Syndrome Congenital Alpha-2-Antiplasmin Deficiency Glycogen Storage Disease due to Hepatic Glycogen Synthase Deficiency Hypnic Headache Proximal Symphalangism Cardio-Spondylo-Carpo-Facial Syndrome Familial Multinodular Goiter Cochleosaccular Degeneration - Cataract Syndrome Conductive Deafness - Ptosis - Skeletal Anomalies Syndrome Progressive Deafness with Stapes Fixation Infantile Symmetrical Thalamic Degeneration Pars Planitis Intermediate Uveitis Chronic Endophthalmitis Hapnes-Boman-Skeie Syndrome Tel Hashomer Camptodactyly Syndrome Teebi-Shaltout Syndrome Apolipoprotein A-I Deficiency Macrocephaly - Mental Retardation - Hypotonia - Radioulnar Synostosis Syndrome Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome Humero-Radial Synostosis Transitional Pelizaeus-Merzbacher Disease Spondyloenchondrodysplasia Eyebrow Duplication - Syndactyly Syndrome Spinocerebellar Degeneration - Corneal Dystrophy Classic Pelizaeus-Merzbacher Disease Senior-Løken Syndrome Type 7 Medullary Cystic Kidney Disease Idiopathic Anterior Uveitis Calciphylaxis Deafness-Epiphyseal Dysplasia-Short Stature Syndrome Conductive Deafness - Malformed External Ear Syndrome Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome Generalized Resistance to Thyroid Hormones Summitt Syndrome Deafness - Opticoacoustic Nerve Atrophy - Dementia Syndrome Yemenite Deaf Blind Hypopigmentation Syndrome Sebocystomatosis Stimmler Syndrome Hereditary Hyperekplexia Van den Bosch Syndrome Isolated Arhinencephaly Bilateral Polymicrogyria Verloove-Van Horick-Brubakk Syndrome Vásquez-Hurst-Sotos Syndrome Kozlowski Brown Hardwick Syndrome Worster-Drought Syndrome Multicentric Osteolysis - Nodulosis - Arthropathy Young Syndrome Mounier-Kühn Syndrome Neuhauser-Daly-Magnelli Syndrome Treft-Sanborn-Carey Syndrome Tricho-Oculo-Dermo-Vertebral Syndrome Autoimmune Lymphoproliferative Disease Type Dianzani Myostatin-Related Muscle Hypertrophy Trichoodontoonychial Dysplasia Familial Thiemann Disease Thoracolaryngopelvic Dysplasia Hoyeraal-Hreidarsson Syndrome Braddock-Carey Syndrome Thyro-Cerebro-Renal Syndrome Absent Tibia - Polydactyly - Arachnoid Cyst Syndrome Mosaic Trisomy 7 Hemolytic Disease of the Newborn with Kell Alloimmunization Isolated Anterior Cervical Hypertrichosis Humerus Trochlea Aplasia Odonto-Onycho-Hypohidrotic Dysplasia-Midline Scalp Defects Syndrome Multiple Endocrine Neoplasia Type 4 Salivary Gland Pleomorphic Adenoma Upington Disease Trichodysplasia - Xeroderma Syndrome Isolated Trigonocephaly Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome Drug- or Toxin-Induced Pulmonary Arterial Hypertension Congenital Chylothorax Autoimmune Pulmonary Alveolar Proteinosis Polydactyly-Myopia Syndrome POEMS Syndrome Crossed Polysyndactyly Prata-Libéral-Gonçalves Syndrome Radiation Exposure-Related Interstitial Lung Disease Drug or Radiation Exposure-Related Interstitial Lung Disease Bilateral Renal Agenesis Chronic Intestinal Pseudoobstruction CAID Syndrome Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome Autosomal Dominant Prognathism Intermittent Maple Syrup Urine Disease Stiff Skin Syndrome Classic Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Complication of Hemodialysis Antinolo-Nieto-Borrego Syndrome Fitzsimmons-Walson-Mellor Syndrome Partington-Anderson Syndrome Spastic Paraplegia - Precocious Puberty Serpentine Fibula - Polycystic Kidneys Syndrome Iniencephaly Ray-Peterson-Scott Syndrome X-Linked Neural Tube Defects Camptodactyly - Arthropathy - Coxa Vara - Pericarditis Syndrome Congenital Pericardium Anomaly Disproportionate Short Stature - Ptosis - Valvular Heart Lesions Short Stature Type Brussels Cardiocranial Syndrome Type Pfeiffer Pfeiffer-Palm-Teller Syndrome Phakomatosis Pigmentokeratotica Cranial Meningocele Spina Bifida Aperta Cervical Spina Bifida without Hydrocephalus Spina Bifida with Hydrocephalus Thoracic Spina Bifida with Hydrocephalus Cervical Spina Bifida with Hydrocephalus Short Stature - Wormian Bones - Dextrocardia Syndrome Chitayat-Meunier-Hodgkinson Syndrome Isolated Amyelia Pili Torti - Onychodysplasia Syndrome Neurenteric Cyst Pili Torti - Developmental Delay - Neurological Abnormalities Syndrome Arnold-Chiari Malformation Type 1 Pilotto Syndrome Pinsky - Di George - Harley Syndrome Phocomelia Type Schinzel Lipomyelomeningocele Cutaneous Photosensitivity - Lethal Colitis Syndrome Chronic Actinic Dermatitis Piebald Trait - Neurologic Defects Syndrome Gustavson Syndrome Rhizomelic Syndrome Type Urbach Congenital Partial Pulmonary Venous Return Anomaly Retinohepatoendocrinologic Syndrome Robinow-Sorauf Syndrome Rombo Syndrome Schinzel-Giedion Syndrome Say Barber Miller Syndrome Nephrogenic Diabetes Insipidus-Intracranial Calcification Syndrome Familial Pterygium of the Conjunctiva Uniparental Disomy of Chromosome 21 Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome McPherson-Robertson-Cammarano Syndrome Ptosis - Vocal Cord Paralysis Syndrome Moderately-Differentiated Thymic Neuroendocrine Carcinoma Qazi-Markouizos Syndrome Absent Radius - Anogenital Anomalies Syndrome Congenital Smooth Muscle Hamartoma Radio-Renal Syndrome Rambaud-Gallian Syndrome Congenital Disorder of Glycosylation Type 2I Congenital Disorder of Glycosylation Type 1O Rasmussen Johnsen Thomsen Syndrome RAPADILINO Syndrome Congenital Disorder of Glycosylation Type 2G Radial Ray Hypoplasia - Choanal Atresia Syndrome Meckel Syndrome Type 7 Congenital Bilateral Megacalycosis Familial Multiple Meningioma Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome X Chromosome Anomaly Young-Simpson Syndrome Y Chromosome Anomaly Syndesmodysplasic Dwarfism Osteoglophonic Dwarfism Mesomelic Dysplasia Type Reinhardt-Pfeiffer Mesomelic Dysplasia Type Langer Geleophysic Dysplasia Trisomy 20p Nail-Patella-Like Renal Disease 3M Syndrome Type 2 Bird-Headed Dwarfism Type Montreal Trisomy 17p Tubular Aggregate Myopathy Distal Monosomy 9p Myelocerebellar Disorder 15q11.2 Microdeletion Syndrome Moore-Federman Syndrome Mononen-Karnes-Senac Syndrome Microspherophakia - Metaphyseal Dysplasia Syndrome Partial Monosomy 9p Partial Monosomy 10p Partial Monosomy 8p Pontocerebellar Hypoplasia Type 2 Pontocerebellar Hypoplasia Type 2C Autosomal Dominant Microcephaly Congenital Symmetric Circumferential Skin Creases Metachondromatosis FATCO Syndrome Gestational Trophoblastic Disease Complete Hydatidiform Mole Epithelioid Trophoblastic Tumor Partial Pancreatic Agenesis Parana Hard-Skin Syndrome Familial Recurrent Peripheral Facial Palsy Spastic Paraplegia - Glaucoma - Intellectual Disability Diomedi-Bernardi-Placidi Syndrome Spastic Paraparesis-Deafness Syndrome Infantile Malignant Osteopetrosis Autosomal Recessive Osteopetrosis Type 2 Osteoporosis-Oculocutaneous Hypopigmentation Syndrome Autosomal Dominant Osteopetrosis Type 1 Autosomal Dominant Osteosclerosis Type Worth Inhalational Botulism Frontal Fibrosing Alopecia Lateral Meningocele Syndrome Pachydermoperiostosis, Autosomal Dominant Otoonychoperoneal Syndrome OSLAM Syndrome Melanoma-Astrocytoma Syndrome Progressive Osseous Heteroplasia Malignant Triton Tumor Carpotarsal Osteochondromatosis Osteomesopyknosis Lichen Planopilaris Actinic Lichen Planus Bullous Lichen Planus Rare Cutaneous Lichen Planus Onycho-Tricho-Dysplasia-Neutropenia Syndrome Tumor of Meninges Meningeal Melanocytoma Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome Malignant Perineurioma Joubert Syndrome Type 10 Autosomal Dominant Sideroblastic Anemia Eye Defects - Arachnodactyly - Cardiopathy Syndrome Odontomatosis - Aortae Esophagus Stenosis Syndrome Odonto-Onycho-Dermal Dysplasia Oculo-Cerebral Hypopigmentation Syndrome Type Preus Oculocerebral Hypopigmentation Syndrome Type Cross Blepharophimosis-Intellectual Disability Syndrome Type Ohdo Oculocerebral Dysplasia Ochoa Syndrome Oculotrichodysplasia Oculorenocerebellar Syndrome Oculo-Palato-Cerebral Syndrome Oligomeganephronia Dwarfism - Tall Vertebrae Neurofibromatosis Type 6 Idiopathic Recurrent Pericarditis MASS Syndrome Abnormalities of Size and Form of Teeth Congenital Microvillous Atrophy Non-Infective Neonatal Diarrhea Neuronal Intranuclear Inclusion Disease Congenital Velopharyngeal Incompetence Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome Benign Concentric Annular Macular Dystrophy Parietal Foramina with Cleidocranial Dysplasia Pigmented Paravenous Retinochoroidal Atrophy Pachyonychia Congenita Type 4 Pachyonychia Congenita Type 3 Congenital Onychauxis Absence or Deformity of Leg- Cataract Syndrome 46,XY Sex Reversal Type 9 Rare Tumor of Neuroepithelial Tissue Familial Joint Laxity Sickle Cell - Beta-Thalassemia Sickle Cell-Hemoglobin E Disease Syndrome Pancreatic Hypoplasia - Diabetes - Congenital Heart Disease Syndrome Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome 1q21.1 Microdeletion Syndrome Congenital Unilateral Pulmonary Hypoplasia Megacystis - Microcolon - Intestinal Hypoperistalsis Syndrome Ichthyosis Follicularis - Alopecia - Photophobia Syndrome Ichthyosis - Oral and Digital Anomalies Syndrome Superficial Epidermolytic Ichthyosis Hypospadias - Intellectual Disability Syndrome Type Goldblatt Ichthyosis-Cheek-Eyebrow Syndrome Pineoblastoma Malignant Hyperthermia - Arthrogryposis - Torticollis Cervical Hypertrichosis - Peripheral Neuropathy Syndrome Pineocytoma Papillary Tumor of the Pineal Region Choroid Plexus Tumor Choroid Plexus Carcinoma Atypical Papilloma of Choroid Plexus Central Nervous System Primitive Neuroectodermal Tumor Ganglioneuroblastoma Palmoplantar Keratoderma-Spastic Paralysis Syndrome Ependymoblastoma Medulloepithelioma Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome Desmoplastic Medulloblastoma Epidermolytic Palmoplantar Keratoderma Type Vörner Ganglioneuroma Hypogonadotropic Hypogonadism - Retinitis Pigmentosa Anaplastic Ganglioglioma Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Ganglioglioma Papillary Glioneuronal Tumor Hypergonadotropic Hypogonadism - Partial Alopecia Dysembryoplastic Neuroepithelial Tumor Cerebellar Liponeurocytoma Pituicytoma Pilomyxoid Astrocytoma Pleomorphic Xanthoastrocytoma Fibrillary Astrocytoma Gemistocytic Astrocytoma Diffuse Astrocytoma Protoplasmic Astrocytoma Hirschsprung Disease - Deafness - Polydactyly Syndrome Anaplastic Astrocytoma Low-Grade Astrocytoma Hirschsprung Disease - Nail Hypoplasia - Dysmorphism Giant Cell Glioblastoma Hirschsprung Disease Type D-Brachydactyly Syndrome Gliomatosis Cerebri Gliosarcoma Astroblastoma Angiocentric Glioma Anaplastic Oligoastrocytoma Oligoastrocytoma Waaler-Aarskog Syndrome Ependymoma Grade 3 Ependymoma Grade 1 Subependymoma Marfanoid Syndrome Type De Silva Melhem-Fahl Syndrome Becker Nevus Syndrome Neurocutaneous Melanocytosis Collecting Duct Carcinoma Superficial Siderosis of the Central Nervous System Lower Limb Deficiency-Hypospadias Syndrome Generalized Pustular Psoriasis Macrosomia - Microphthalmia - Cleft Palate Congenital Disorder of Glycosylation Type 1N Split Hand - Split Foot Malformation 5 Split Hand-Split Foot Malformation 4 Split Hand-Split Foot Malformation 2 Supernumerary Nipples Common Mesentery Ectodermal Dysplasia - Syndactyly Syndrome Congenitally Short Costocoracoid Ligament Leukonychia Totalis Juvenile Huntington Disease Peripheral Motor Neuropathy - Dysautonomia Syndrome Nasopalpebral Lipoma - Coloboma - Telecanthus Syndrome Hypergonadotropic Hypogonadism-Cataract Syndrome Lubani-Al Saleh-Teebi Syndrome Thickened Earlobes-Conductive Deafness Syndrome Citrin Deficiency Epidermolysis Bullosa Simplex with Hypodontia Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome Autosomal Dominant Secondary Polycythemia Kaler-Garrity-Stern Syndrome Jung-Wolff-Back-Stahl Syndrome Kabuki Syndrome Keratosis follicularis - Dwarfism - Cerebral Atrophy Syndrome Lipoblastoma Juvenile Cataract - Microcornea - Renal Glucosuria Syndrome MUTYH-Related Attenuated Familial Adenomatous Polyposis Kumar-Levick Syndrome Femoral Hypoplasia Femoral Agenesis - Femoral Hypoplasia Cleft Palate - Stapes Fixation - Oligodontia Celosomia Dystrophic Epidermolysis Bullosa Familial Median Cleft of the Upper and Lower Lips Jaffe-Campanacci Syndrome Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome FLOTCH Syndrome Hereditary Gingival Fibromatosis Fibrochondrogenesis Gingival Fibromatosis-Progressive Deafness Syndrome Gingival Fibromatosis-Hypertrichosis Syndrome Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome Cole-Carpenter Syndrome Foix-Chavany-Marie Syndrome Glaucoma - Sleep Apnea Gemignani Syndrome Paroxysmal Hemicrania Trigeminal Autonomic Cephalalgia Gastrocutaneous Syndrome Sea-blue histiocytosis Grant Syndrome Hereditary Progressive Mucinous Histiocytosis Juvenile Xanthogranuloma Xanthoma Disseminatum Necrobiotic Xanthogranuloma Hypotrichosis - Lymphedema - Telangiectasia with Membranoproliferative Glomerulonephritis Benign Cephalic Histiocytosis Hip Dysplasia Type Beukes Macrophage Activation Syndrome 46,XX Sex Reversal Type 1 Adactyly of Foot Brachydactyly of Fingers Familial Developmental Dysphasia Thoracomelic Dysplasia Dyssegmental Dysplasia-Glaucoma Syndrome Odontomicronychial Dysplasia Multiple Epiphyseal Dysplasia Schimke Immunoosseous Dysplasia De Hauwere Syndrome Ulna Metaphyseal Dysplasia Syndrome Hereditary Mucoepithelial Dysplasia Skeletal Dysplasia - Epilepsy - Short Stature Syndrome Dyssegmental Dysplasia Type Silverman-Handmaker Platyspondylic Lethal Skeletal Dysplasia Type San Diego X-Linked Cone Dystrophy with Tapetal-Like Sheen X-Linked Cone Rod Dystrophy 2 Retinal Cone Dystrophy Type 1 Cone Rod Dystrophy Type 9 Cone Rod Dystrophy Type 12 Retinal Cone Dystrophy Type 4 Cone Rod Dystrophy Type 11 Cone Rod Dystrophy Type 13 Cone Rod Dystrophy Type 3 Cone Rod Dystrophy Type 7 Cone Dystrophy Type 3 Cone Rod Dystrophy Type 6 Cone Rod Dystrophy Type 5 Cone Rod Dystrophy Type 1 X-Linked Cone Rod Dystrophy Type 1 X-Linked Atrophic Macular Degeneration X-Linked Cone Rod Dystrophy Type 3 Bullous Dystrophy Type Macular Calvarial Doughnut Lesions - Bone Fragility Syndrome Bassoe Syndrome Hypohidrotic Ectodermal Dysplasia - Hypothyroidism - Ciliary Dyskinesia Ectodermal Dysplasia-Sensorineural Deafness Syndrome Ectodermal Dysplasia Type Tricho-Odonto-Onychial Ectodermal Dysplasia Type Berlin Intellectual Disability - Spasticity - Ectrodactyly Syndrome Edinburgh Malformation Syndrome Ectrodactyly-Cleft Palate Syndrome Ectrodactyly-Ectodermal Dysplasia without Clefting Syndrome Fetal Cytomegalovirus Syndrome Fetal Hydantoin Syndrome Minamata Disease Eng-Strom Syndrome Preaxial Hallucal Polydactyly Diabetic Embryopathy Primary Erythromelalgia Lowry-Wood Syndrome Exostoses - Anetodermia - Brachydactyly Type E Syndrome Dandy-Walker Malformation - Mental Retardation - Macrocephaly - Myopia - Brachytelephalangy Cranio-Osteo-Arthropathy Craniodiaphyseal Dysplasia Hypertelorism Type Teebi Channelopathy Coxoauricular Syndrome Thin Ribs - Tubular Bones - Dysmorphism Syndrome Crane-Heise Syndrome Congenital Malformation of the Knee Joint Hereditary Sensory and Autonomic Neuropathy Primary Intraosseous Vascular Malformation X-Linked Partial Corpus Callosum Dysgenesis Orofaciodigital Syndrome De Sanctis-Cacchione Syndrome Cutis Verticis Gyrata-Intellectual Disability Syndrome Dacryocystitis-Osteopoikilosis Syndrome RHYNS Syndrome Primary Central Nervous System Vasculitis Linear Atrophoderma of Moulin Lelis Syndrome Congenital Abducens Nerve Palsy Dermo-Odonto Dysplasia Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth