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Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies)
Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies)
Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type)
Jacobs Syndrome
Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial);
Partial Monosomy of Long Arm of Chromosome 11)
Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I])
Jadassohn Nevus Phakomatosis
Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying)
Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis)
Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation)
Jalili Syndrome (Amaurosis Hypertrichosis; Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis)
Jancar Syndrome (Mental Retardation Spasticity Ectrodactyly)
Jankovic Rivera Syndrome (Myoclonus Hereditary Progressive Distal Muscular Atrophy)
Jansky Bielschowsky Disease
Jarcho Lewin Syndrome (Spondylocostal Dysostosis)
Jejunal Atresia (Apple Peel Syndrome, Christmas Tree Syndrome)
Jensen Syndrome (Opticoacoustic Nerve Atrophy Dementia)
Jequier Kozlowski Skeletal Dysplasia (Facies Unusual Arthrogryposis Advanced Skeletal Maturation)
Jervell Lange Nielsen syndrome
Jeune Syndrome
Job (Buckley) Syndrome (Hyperimmunoglobulin E - Reccurrent Infection Syndrome, HIE Syndrome, Hyper-IgE Syndrome)
Johanson Blizzard Syndrome
Johnie McL Syndrome
Johnson Hall Krous Syndrome (Glossopalatine Ankylosis Cataracts Digital Anomalies)
Johnson Munson Syndrome (Aphalangia Hemivertebrae)
Johnson (McMillin) Neuroectodermal Syndrome (Alopecia Anosmia Deafness Hypogonadism Syndrome)
Johnston Aarons Schelley Syndrome (Contractures Hyperkeratosis Lethality)
Johnston Neuroectodermal Syndrome
Joint Instability/Laxity Syndrome (Articular Hypermobility Syndrome; Ehlers Danlos Syndrome, Type XI)
Jones Hersh Yusk Syndrome (Aplasia Cutis Cleft Palate Epidermolysis)
Jones Syndrome (Fibromatosis Gingival Progressive Deafness)
Jorgenson Lenz Syndrome (Blepharophimosis with Radioulnar Synostosis)
Joubert (Boltshauser) Syndrome (Cerebelloparenchymal Disorder IV, Cerebellar Vermis Agenesis)
Juberg Hayward Syndrome (Cleft Lip/Palate with Abnormal Thumbs and Microcephaly, Cranio-Oro-Digital Syndrome, Digital-Oro-Cranio Syndrome, Orocraniodigital Syndrome)
Juberg Marsidi Syndrome
Judge Misch Wright Syndrome (Keratodermia Palmoplantar Periorificial)
Jung Wolff Back Stahl Syndrome
Juvenile (Chronic/Rheumatoid) Arthritis
Juvenile Cataract with Cerebellar Atrophy, Myopathy and Mental Retardation (Marinesco Sjogren Like Syndrome)
Juvenile Macular Degeneration with Hypotrichosis
Juvenile Retinoschisis
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