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CTGA Database Listing
Arab Genomic Studies
Records found: 2588 Sort by:
  • Graves Disease
    OMIM # 275000
    GRD, Thyrotoxicosis, Hyperthyroidism, Autoimmune, GRD1, Graves Disease, Susceptibility to, 1,
  • Hypothyroidism, Congenital, Nongoitrous, 1
    OMIM # 275200
    CHNG1, Thyrotropin Resistance, Thyroid-Stimulating Hormone, Resistance to, RTSH, TSH Resistance, Hypothyroidism, Nonautoimmune, Hypothyroidism, Congenital, Due to TSH Resistance, Hypothyroidism Due to Unresponsiveness to Thyrotropin,
  • Restrictive Dermopathy, Lethal
    OMIM # 275210
    Tight Skin Contracture Syndrome, Lethal, Hyperkeratosis-Contracture Syndrome, Fetal Hypokinesia Sequence due to Restrictive Dermopathy
  • Squamous Cell Carcinoma, Head and Neck
    OMIM # 275355
    HNSCC
  • Spastic Paraplegia 20, Autosomal Recessive
    OMIM # 275900
    SPG20, Troyer Syndrome, Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting, Spastic Paraplegia, Autosomal Recessive, Troyer Type,
  • Mismatch Repair Cancer Syndrome
    OMIM # 276300
    MMRCS, Mismatch Repair Deficiency, MMR Deficiency, Childhood Cancer Syndrome, Brain Tumor-Polyposis Syndrome 1, BTPS1, BTP1 Syndrome, Turcot Syndrome
  • Tyrosine Transaminase Deficiency
    OMIM # 276600
    TYRSN2, Richner-Hanhart Syndrome, Tyrosine Aminotransferase Deficiency, Tat Deficiency, Tyrosine Transaminase Deficiency, Keratosis Palmoplantaris with Corneal Dystrophy, Oregon Type Tyrosinemia, Tyrosinosis, Oculocutaneous Type
  • Tyrosinemia, Type I
    OMIM # 276700
    Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency, FAH Deficiency, Fumarylacetoacetate Hydrolase, FAH, Fumarylacetoacetase
  • Ulna and Fibula, Absence of, with Severe Limb Deficiency
    OMIM # 276820
    Limb/Pelvis-Hypoplasia/Aplasia Syndrome, LPHAS, Al-Awadi/Raas-Rothschild Syndrome, AARRS, Schinzel Phocomelia Syndrome
  • Usher Syndrome Type I
    OMIM # 276900
    USH1, Retinitis Pigmentosa and Congenital Deafness, Usher Syndrome, Type IB, USH1B, Usher Syndrome, Type IA, USH1A, Usher Syndrome, Type I, French Variety
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