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  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... hypothyroidism), heart abnormalities that are present from birth (congenital heart defects), kidney problems, genital abnormalities, and skin problems may also occur in this disorder. Some ...
  2. Cardiofaciocutaneous syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome
    ... Citation on PubMed Enlarge image Related Health Topics Congenital Heart Defects Craniofacial Abnormalities Genetic Disorders Skin Conditions MEDICAL ENCYCLOPEDIA Genetics Related Medical Tests BRAF ...
  3. Distal 18q deletion syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome
    ... hypothyroidism), heart abnormalities that are present from birth (congenital heart defects), kidney problems, genital abnormalities, and skin problems may also occur in this disorder. Some ...
  4. NLM Digital Collections - The osteopathic treatment of children's diseases 
    Publication: Los Angeles, California : A.T. Still Research Institute, 1923
    resource.nlm.nih.gov/34120560R
    ... membranes. ADENOMA SEBACEUM 599 This is a rare congenital abnormality of the skin characterized by hardness of the skin. This seems ...
  5. Koolen-de Vries Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK24676
    ... MAP2K1 MAP2K2 KRAS AD 2 Nevi & other pigmentary skin abnormalities Congenital heart anomalies Postnatal short stature Coarse facies; fine & ...
  6. SAMD9L-Related Ataxia-Pancytopenia Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK435692
    ... 3. The majority of individuals with FA have congenital abnormalities, most commonly short stature and skeletal, craniofacial, and genitourinary tract malformations. Abnormal skin pigmentation and microcephaly are also common. Other anomalies ...
  7. NLM Digital Collections - MEDLARS indexing : integrated authority file 
    Publication: [Bethesda, Md.] : National Library of Medicine, Bibliographic Services Division, 1968
    resource.nlm.nih.gov/0226726
    ... Index BENZOCAINE (IM) (68) AEROSOLS (IM) (68) dermosinus congenital dermal sinuses Index SKIN *abnormalities (IM) (68) DERMAL SINUS. CONGENITAL (Prov) (NIM) (68) ...
  8. pdfNew MeSH headings by category 
    https://www.nlm.nih.gov/.../download/NewHeadingByCategory2016.pdf
    ... C15 Hemic and Lymphatic Diseases Plasmablastic Lymphoma C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fused Kidney C17 Skin and Connective Tissue Diseases Acne Conglobata Unilateral Breast ...
  9. Squalene Synthase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553533
    ... 3 toe syndactyly DD & ID Facial dysmorphism Genital abnormalities Structural brain malformations Congenital heart defects Dry skin / photosensitivity Autism Low-normal plasma TC levels ↑ 7- ...
  10. pdfNewMeshHeadingsByCategory2019.pdf 
    https://www.nlm.nih.gov/.../NewMeshHeadingsByCategory2019.pdf
    ... Complications > Carcinoma, Ovarian Epithelial > Urinary Bladder, Underactive C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities > GATA2 Deficiency > Neonatal Brachial Plexus Palsy C17 Skin and Connective Tissue Diseases > Myopericytoma C19 Endocrine System ...
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