Acrocephalosyndactylia
Acrodermatitis
Addison Disease
Adie Syndrome
Alagille Syndrome
Amylose
Amyotrophic Lateral Sclerosis
Angelman Syndrome
Angiolymphoid Hyperplasia with Eosinophilia
Arnold-Chiari Malformation
Arthritis, Juvenile Rheumatoid
Asperger Syndrome
Bardet-Biedl Syndrome
Barrett Esophagus
Beckwith-Wiedemann Syndrome
Behcet Syndrome
Bloom Syndrome
Bowen's Disease
Brachial Plexus Neuropathies
Brown-Sequard Syndrome
Budd-Chiari Syndrome
Burkitt Lymphoma
Carcinoma 256, Walker
Caroli Disease
Charcot-Marie-Tooth Disease
Chediak-Higashi Syndrome
Chiari-Frommel Syndrome
Chondrodysplasia Punctata
Colonic Pseudo-Obstruction
Colorectal Neoplasms, Hereditary Nonpolyposis
Craniofacial Dysostosis
Creutzfeldt-Jakob Syndrome
Crohn Disease
Cushing Syndrome
Cystic Fibrosis
Dandy-Walker Syndrome
De Lange Syndrome
Dementia, Vascular
Dermatitis Herpetiformis
DiGeorge Syndrome
Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome
Dupuytren Contracture
Ebstein Anomaly
Eisenmenger Complex
Ellis-Van Creveld Syndrome
Encephalitis
Enchondromatosis
Epidermal Necrolysis, Toxic
Facial Hemiatrophy
Factor XII Deficiency
Fanconi Anemia
Felty's Syndrome
Fibrous Dysplasia, Polyostotic
Fox-Fordyce Disease
Friedreich Ataxia
Fusobacterium
Gardner Syndrome
Gaucher Disease
Gerstmann Syndrome
Giant Lymph Node Hyperplasia
Glycogen Storage Disease Type I
Glycogen Storage Disease Type II
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VII
Goldenhar Syndrome
Guillain-Barre Syndrome
Hallermann's Syndrome
Hamartoma Syndrome, Multiple
Hartnup Disease
Hepatolenticular Degeneration
Hepatolenticular Degeneration
Hereditary Sensory and Motor Neuropathy
Hirschsprung Disease
Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-Cell
Hodgkin Disease
Horner Syndrome
Huntington Disease
Hyperaldosteronism
Hyperostosis, Diffuse Idiopathic Skeletal
Hypopituitarism
Inappropriate ADH Syndrome
Intestinal Polyps
Isaacs Syndrome
Kartagener Syndrome
Kearns-Sayre Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Kluver-Bucy Syndrome
Korsakoff Syndrome
Lafora Disease
Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome
Langer-Giedion Syndrome
Leigh Disease
Lesch-Nyhan Syndrome
Leukodystrophy, Globoid Cell
Li-Fraumeni Syndrome
Long QT Syndrome
Machado-Joseph Disease
Mallory-Weiss Syndrome
Marek Disease
Marfan Syndrome
Meckel Diverticulum
Meige Syndrome
Melkersson-Rosenthal Syndrome
Meniere Disease
Mikulicz' Disease
Miller Fisher Syndrome
Mobius Syndrome
Moyamoya Disease
Mucocutaneous Lymph Node Syndrome
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Multiple Endocrine Neoplasia Type 1
Munchausen Syndrome by Proxy
Muscular Atrophy, Spinal
Neuroaxonal Dystrophies
Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses
Niemann-Pick Diseases
Noonan Syndrome
Optic Atrophies, Hereditary
Osteitis Deformans
Osteochondritis
Osteochondrodysplasias
Osteolysis, Essential
Paget Disease Extramammary
Paget's Disease, Mammary
Panniculitis, Nodular Nonsuppurative
Papillon-Lefevre Disease
Paralysis
Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial
Penile Induration
Pericarditis, Constrictive
Peroxisomal Disorders
Peutz-Jeghers Syndrome
Pick Disease of the Brain
Pierre Robin Syndrome
Pigmentation Disorders
Pityriasis Lichenoides
Polycystic Ovary Syndrome
Polyendocrinopathies, Autoimmune
Prader-Willi Syndrome
Pupil Disorders
Rett Syndrome
Reye Syndrome
Rubinstein-Taybi Syndrome
Sandhoff Disease
Sarcoma, Ewing's
Sjogren's Syndrome
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophies of Childhood
Sturge-Weber Syndrome
Sweating, Gustatory
Takayasu Arteritis
Tangier Disease
Tay-Sachs Disease
Thromboangiitis Obliterans
Thyroiditis, Autoimmune
Tietze's Syndrome
Togaviridae Infections
Tolosa-Hunt Syndrome
Tourette Syndrome
Uveomeningoencephalitic Syndrome
Waardenburg's Syndrome
Wegener Granulomatosis
Weil Disease
Werner Syndrome
Williams Syndrome
Wilms Tumor
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolman Disease
Zellweger Syndrome
Zollinger-Ellison Syndrome