| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Noonan syndrome 11
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NS11
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A Noonan syndrome characterized by clinical charac.. [+]A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3.
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Noonan syndrome 12
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NS12
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A Noonan syndrome characterized by macrocephaly, f.. [+]A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2.
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N-acetylglutamate synthase deficiency
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NAG synthetase deficiency; NAGS deficiency; N-acet..
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NAGS deficiency; NAG synthetase deficiency; N-acetylglutamate synthetase deficiency; N-acetyl glutamate synthetase deficiency; hyperammonemia due to N-acetylglutamate synthase deficiency
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A urea cycle disorder characterized by accumulatio.. [+]A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.
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nephrotic syndrome type 23
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NPHS23
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A familial nephrotic syndrome characterized by ons.. [+]A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.
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nephrotic syndrome type 21
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NPHS21
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A familial nephrotic syndrome characterized by ons.. [+]A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1.
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nephrotic syndrome type 22
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NPHS22
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A familial nephrotic syndrome characterized by ons.. [+]A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3.
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neurodevelopmental disorder with involuntary movements
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NEDIM
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A movement disease characterized by delayed psycho.. [+]A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13.
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urinary system disease
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Non-neoplastic urinary tract disease; urinary trac..
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Non-neoplastic urinary tract disease; urinary tract disease
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A disease of anatomical entity that is located_in .. [+]A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
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99 articles
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72 matches
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vaginal cancer
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neoplasm of vagina (disorder); neoplasm of vagina; ..
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neoplasm of vagina; neoplasm of vagina (disorder); malignant tumor of vagina (disorder); malignant vaginal tumor; vagina neoplasm; vaginal tumor; malignant neoplasm of vagina; malignant tumor of vagina
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A female reproductive system cancer that is locate.. [+]A female reproductive system cancer that is located_in the vagina.
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endocrine gland cancer
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neoplasm of endocrine system; neoplasm of endocrin..
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neoplasm of endocrine system; neoplasm of endocrine gland; neoplasm of endocrine system (disorder); neoplasm of endocrine gland (disorder); Endocrine tumor; malignant Endocrine tumor; malignant neoplasm of endocrine gland; endocrine neoplasm; malignant tumour of endocrine gland
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An organ system cancer located_in endocrine system.. [+]An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
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9 articles
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11 matches
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vascular cancer
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neoplasm of great vessel; Blood Vessel neoplasm; b..
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neoplasm of great vessel; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor
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A cardiovascular cancer that is located_in blood v.. [+]A cardiovascular cancer that is located_in blood vessels.
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bone cancer
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neoplasm of bone; CA - bone cancer; malignant bone..
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neoplasm of bone; CA - bone cancer; malignant bone neoplasm; malignant bone tumour; osseous tumor; bone tumour; malignant neoplasm of bone; bone neoplasm; malignant osseous tumor
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A connective tissue cancer that is located_in bone.. [+]A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
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8 articles
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8 matches
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connective tissue cancer
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neoplasm of connective tissues; Tumour of connecti..
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neoplasm of connective tissues; Tumour of connective tissue; connective tissue neoplasm; mesenchymal tissue malignant neoplasm
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A musculoskeletal system cancer that is located_in.. [+]A musculoskeletal system cancer that is located_in connective tissue.
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8 articles
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8 matches
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colonic benign neoplasm
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neoplasm of colon (disorder); neoplasm of colon; C..
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neoplasm of colon; neoplasm of colon (disorder); Colonic Mass; Colonic tumor; colon neoplasm
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An intestinal benign neoplasm that is located_in t.. [+]An intestinal benign neoplasm that is located_in the colon.
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trachea leiomyoma
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neoplasm of trachea (disorder); tracheal neoplasm; ..
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neoplasm of trachea (disorder); tracheal neoplasm; Tracheal tumor; trachea neoplasm; leiomyoma of the Trachea
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A respiratory system benign neoplasm that derives_.. [+]A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
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lacrimal system cancer
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neoplasm of lacrimal system; neoplasm of lacrimal ..
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neoplasm of lacrimal system; neoplasm of lacrimal system (disorder); lacrimal system neoplasm; tumor of the lacrimal system
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n_a
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lacrimal gland cancer
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neoplasm of lacrimal gland; neoplasm of lacrimal g..
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neoplasm of lacrimal gland; neoplasm of lacrimal gland (disorder); malignant neoplasm of lacrimal gland; malignant tumour of lacrimal gland; tumor of the lacrimal gland
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n_a
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spinal accessory nerve neoplasm
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neoplasm of accessory nerve; neoplasm of accessory..
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neoplasm of accessory nerve; neoplasm of accessory nerve (disorder); XIth Cranial nerve tumors
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n_a
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uterine cancer
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neoplasm of uterus; CA - cancer of uterus; maligna..
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neoplasm of uterus; CA - cancer of uterus; malignant neoplasm of uterus; Tumour of uterus; uterine tumor; malignant uterine tumor; uterus neoplasm
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the uterus.
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1 articles
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cerebrum cancer
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neoplasm of cerebrum; neoplasm of cerebrum (disord..
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neoplasm of cerebrum; neoplasm of cerebrum (disorder); cerebral cancer; tumor of Cerebrum
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A supratentorial cancer that is located_in the cer.. [+]A supratentorial cancer that is located_in the cerebrum.
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1 articles
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8 matches
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muscle benign neoplasm
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neoplasm of muscle (disorder); neoplasm of muscle; ..
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neoplasm of muscle; neoplasm of muscle (disorder); Myomatous neoplasm; Myomatous tumor; muscle tissue neoplasm; muscle neoplasm
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n_a
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central nervous system mesenchymal non-meningothelial tumor
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Non-meningothelial mesenchymal tumour; Non-meningo..
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Non-meningothelial mesenchymal tumour; Non-meningothelial mesenchymal tumor; central nervous system mesenchymal non-meningothelial tumour
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A central nervous system cancer that is characteri.. [+]A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
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epididymal neoplasm
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neoplasm of epididymis; neoplasm of epididymis (di..
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neoplasm of epididymis; neoplasm of epididymis (disorder)
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n_a
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scrotum neoplasm
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neoplasm of scrotum; neoplasm of scrotum (disorder..
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neoplasm of scrotum; neoplasm of scrotum (disorder); malignant tumor of scrotum (disorder); Scrotal tumor; malignant Scrotal neoplasm; scrotum cancer; Scrotal Ca; malignant tumor of scrotum; malignant tumour of scrotum
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n_a
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sleep disorder
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Non-organic sleep disorder
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A disease of mental health that involves disruptio.. [+]A disease of mental health that involves disruption of sleep patterns.
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1 articles
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kidney disease
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nephropathy; impaired renal function disease
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A urinary system disease that is located_in the ki.. [+]A urinary system disease that is located_in the kidney.
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92 articles
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51 matches
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adrenal cortex cancer
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neoplasm of adrenal cortex; neoplasm of adrenal co..
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neoplasm of adrenal cortex; neoplasm of adrenal cortex (disorder); Adrenal cortical tumors NOS (disorder); malignant Adrenocortical tumor; malignant neoplasm of adrenal cortex; malignant tumour of adrenal cortex; Adrenal cortical tumors
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n_a
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1 articles
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urethral benign neoplasm
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neoplasm. urethra; neoplasm of urethra; neoplasm o..
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neoplasm of urethra; neoplasm. urethra; neoplasm of urethra (disorder)
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n_a
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urinary system benign neoplasm
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neoplasm of urinary system; tumor of urinary tract..
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neoplasm of urinary system; tumor of urinary tract; urinary tract neoplasm; tumor of the urinary system
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An organ system benign neoplasm that is located_in.. [+]An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
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retinoblastoma
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neuroblastoma of Retina; RB; RB - Retinoblastoma
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A retinal cell cancer and malignant neoplasm of re.. [+]A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
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5 articles
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25 matches
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occipital lobe neoplasm
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neoplasm of occipital lobe; neoplasm of occipital ..
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neoplasm of occipital lobe; neoplasm of occipital lobe (disorder); malignant neoplasm of occipital lobe; malignant neoplasm of occipital lobe (disorder); tumor of Occipital Lobe
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n_a
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aggressive NK-cell leukemia
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natural killer cell leukemia; natural killer cell ..
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natural killer cell leukemia; natural killer cell leukaemia; Aggressive NK-cell leukemia (morphologic abnormality); large granular Lymphocyte Leukemia, NK-cell type; aggressive NK-cell leukaemia
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A leukemia that is characterized by the systemic p.. [+]A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
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Hartnup disease
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Neutral 1 amino acid transport defect; Neutral 1 a..
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Neutral 1 amino acid transport defect; Neutral 1 amino acid transport defect (disorder); neutral amino acid transport defect; deficiency of tryptophan oxygenase
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An amino acid metabolic disorder that is caused by.. [+]An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
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peripheral nervous system neoplasm
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nerve sheath neoplasm; neoplasm of peripheral nerv..
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nerve sheath neoplasm; neoplasm of peripheral nerve; nerve sheath tumors; neoplasm of peripheral nerve (disorder); tumor of PNS
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A nervous system cancer that is located in the per.. [+]A nervous system cancer that is located in the peripheral nervous system.
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6 articles
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trigeminal nerve neoplasm
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neoplasm of trigeminal nerve; neoplasm of trigemin..
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neoplasm of trigeminal nerve; neoplasm of trigeminal nerve (disorder); tumor of Trigeminal nerve
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n_a
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vulva cancer
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neoplasm of vulva (disorder); neoplasm of vulva; C..
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neoplasm of vulva; neoplasm of vulva (disorder); Ca vulva; malignant neoplasm of vulva unspecified (disorder); malignant neoplasm of vulva, NOS; malignant neoplasm of vulva, unspecified; malignant tumor of vulva (disorder); malignant Vulvar tumor; vulvar neoplasm; malignant neoplasm of vulva unspecified; malignant neoplasm of vulva; malignant tumor of vulva; vulval cancer; vulval neoplasm; Vulvar tumor
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the vulva.
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brain cancer
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neoplasm of brain; neoplasm of unspecified nature ..
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neoplasm of brain; neoplasm of unspecified nature of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of brain (disorder); brain neoplasm; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; primary brain neoplasm; primary malignant neoplasm of brain (disorder); tumor of the Brain; brain neoplasm, adult; primary brain tumor; adult brain tumor; BT - Brain tumour; malignant tumor of Brain; primary malignant neoplasm of brain; adult malignant brain neoplasm; malignant tumor of adult brain
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A central nervous system cancer that is characteri.. [+]A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
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9 articles
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18 matches
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urethritis
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Nongonococcal urethritis; Nongonococcal urethritis..
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Nongonococcal urethritis; Nongonococcal urethritis (disorder); Non-Gonococcal Urethritis
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n_a
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paranasal sinus benign neoplasm
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neoplasm of accessory sinus; tumor of Accessory si..
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neoplasm of accessory sinus; tumor of Accessory sinus
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n_a
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maxillary sinus benign neoplasm
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neoplasm of maxillary sinus; neoplasm of maxillary..
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neoplasm of maxillary sinus; neoplasm of maxillary sinus (disorder); tumor of Maxillofacial sinus
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n_a
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frontal sinus benign neoplasm
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neoplasm of frontal sinus; neoplasm of frontal sin..
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neoplasm of frontal sinus; neoplasm of frontal sinus (disorder); tumor of the Frontal sinus
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n_a
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ethmoidal sinus benign neoplasm
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neoplasm of ethmoidal sinus; neoplasm of ethmoidal..
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neoplasm of ethmoidal sinus; neoplasm of ethmoidal sinus (disorder); tumor of ethmoidal sinus
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n_a
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endometrial cancer
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neoplasm of endometrium; neoplasm of endometrium (..
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neoplasm of endometrium; neoplasm of endometrium (disorder); endometrial Ca; endometrial neoplasm; malignant neoplasm of endometrium; primary malignant neoplasm of endometrium; tumor of Endometrium; malignant endometrial neoplasm
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A uterine cancer that is located_in tissues lining.. [+]A uterine cancer that is located_in tissues lining the uterus.
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1 articles
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cecal benign neoplasm
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neoplasm of caecum; cecum neoplasm
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An intestinal benign neoplasm that is located_in t.. [+]An intestinal benign neoplasm that is located_in the cecum.
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pleural disease
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non-neoplastic pleural disease; disorder of pleura..
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non-neoplastic pleural disease; disorder of pleura
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A thoracic disease which may involve inflammation .. [+]A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
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parathyroid carcinoma
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neoplasm of parathyroid gland; parathyroid gland c..
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neoplasm of parathyroid gland; parathyroid gland cancer; carcinoma of Parathyroid gland; malignant neoplasm of parathyroid gland; malignant tumor of parathyroid gland (disorder); parathyroid gland adenocarcinoma; Parathyroid gland neoplasm; parathyroid neoplasm; malignant neoplasm of the Parathyroid; malignant tumor of parathyroid gland
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An endocrine gland cancer located_in the parathyro.. [+]An endocrine gland cancer located_in the parathyroid glands located in the neck.
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male breast cancer
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neoplasm of male breast; neoplasm of male breast (..
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neoplasm of male breast; neoplasm of male breast (disorder); malignant neoplasm of male breast
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A breast cancer that occurs in males.
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ichthyosis
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non-syndromic ichthyosis; ichthyoses
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A skin disease characterized by drying and scaling.. [+]A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
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2 articles
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duodenal benign neoplasm
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neoplasm of duodenum; neoplasm of the duodenum
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n_a
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facial nerve neoplasm
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neoplasm of facial nerve; neoplasm of facial nerve..
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neoplasm of facial nerve; neoplasm of facial nerve (disorder); tumor of Facial nerve
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n_a
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