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4,476 Possible Causes for OMIM

  • Adrenal Insufficiency

    300100], [15, 16] Wolman disease [OMIM 278000 ], Smith-Lemli-Opitz syndrome [OMIM 270400] [17] ) Ketoconazole and related antifungals, as well as the anesthetic etomidate[emedicine.medscape.com] BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia.[ncbi.nlm.nih.gov] The most prevalent form of congenital adrenal hyperplasia is caused by a deficiency in steroid 21-hydroxylase (OMIM 201910 ).[emedicine.medscape.com]

  • Coxa Vara

    […] type, OMIM 184250; corner fracture type, OMIM 184255) (Fig. 4.27); (A3), round vertebral bodies; and (A4), severe platyspondyly and anterior tonguing of the vertebral bodies[rrnursingschool.biz] The association coxa vara-patellar apla-sia-tarsal synostosis (OMIM 168850) is probably a unique syndrome (Goeminne and Dujardin 1970).[rrnursingschool.biz] In addition to the most common type originally reported by Kozlowski (OMIM 184252), several other forms are known, which defy exact classification.[rrnursingschool.biz]

  • Hemivertebra

    […] those of Kniest dysplasia (OMIM 156550).[rrnursingschool.biz] Both autosomal dominant (OMIM 180700) (Vallee et al. 1982) and autosomal recessive (OMIM 268310) (Wadlington et al. 1973) inheritance have been documented.[rrnursingschool.biz] Together with spondylothoracic dysostosis (OMIM 122600) and Jarcho-Levin syndrome (OMIM 277300), they are a heterogeneous group of rare disorders characterized by short-neck[rrnursingschool.biz]

  • Corticosteroid-Binding-Globulin - Deficiency

    […] fatiguability ; Phenotypic variability Associated Genes SERPINA6 (Withdrawn symbols: CBG ) Mouse Orthologs Serpina6 (Withdrawn symbols: AI265318, AV104445, Cbg ) Source OMIM[mousephenotype.org]

  • Brachydactylous Dwarfism Type Mseleni

    Name Mseleni Joint Disease Synonyms - Classification bone, developmental, genetic Phenotypes Severe short stature Associated Genes - Mouse Orthologs - Source OMIM:613342 ([mousephenotype.org] ORPHA:2619 Synonym(s): Mseleni joint disease Prevalence: Unknown Inheritance: Unknown Age of onset: Childhood ICD-10: Q77.7 OMIM: 613342 UMLS: C2931420 MeSH: C537086 GARD:[orpha.net]

  • Fibular Hemimelia

    Fibular aplasia with craniosynostosis (OMIM 218550) is a well-recognized association (Lowry 1972).[rrnursingschool.biz] 276820), includes aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails (OMIM 601849) (Kumar et al. 1997).[rrnursingschool.biz] The association of fibular aplasia/hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly, has been termed Fuhrmann syndrome (OMIM 228930) (Fuhrmann et al. 1980).[rrnursingschool.biz]

  • Mycosis Fungoides

    Mycosis fungoides Skin lesions on the knee of a 52-year-old male patient with Mycosis fungoides Specialty Oncology Mycosis fungoides , also known as Alibert-Bazin syndrome [1] or granuloma fungoides , is the most common form of cutaneous T-cell lymphoma . It generally affects the skin, but may progress internally[…][en.wikipedia.org]

  • Annular Pancreas

    Annular pancreas is a rare condition in which the second part of the duodenum is surrounded by a ring of pancreatic tissue continuous with the head of the pancreas . This portion of the pancreas can constrict the duodenum and block or impair the flow of food to the rest of the intestines . It is estimated to[…][en.wikipedia.org]

  • Coxa Valga

    II (I-cell disease, OMIM 252500) and III (pseudo-Hurler polydystrophy, OMIM 252600), mannosidosis (OMIM 248500), and Niemann-Pick disease (OMIM 257200) (Lachman et al. 1973[rrnursingschool.biz] Coxa valga is common in the dysostosis multiplex spectrum, specifically in mucopolysaccharidosis I-H (Hurler, OMIM 20580) and IV (Morquio, OMIM 252300), mucolipidosis type[rrnursingschool.biz] In frontometaphyseal dysplasia (OMIM 305620) coxa valga is associated with widening of the femoral neck due to a tubula-tion defect.[rrnursingschool.biz]

  • Osteosclerosis

    218300, 122860), craniometaphyseal dysplasia (OMIM 123000, 218400), frontometaphy-seal dysplasia (OMIM 305620) and metaphyseal dysplasia (Pyle disease, OMIM 265900).[rrnursingschool.biz] OBJECTIVE: Osteosclerosis (OMIM: 144750) is a type of autosomal dominant bone disease caused by a mutation in the low-density lipoprotein receptor-related protein 5 (LRP5)[ncbi.nlm.nih.gov] Gene LRP5 gene, 11q13.2 (OMIM gene/locus number #603506 ).[iofbonehealth.org]

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