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Disease	Synonyms	Description
nuclear type mitochondrial complex I deficiency 25	MC1DN25	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. [-]
nuclear type mitochondrial complex I deficiency 20	ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficie.. [+] ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency; MC1DN20; mitochondrial complex 1 deficiency due to ACAD9 deficiency [-]	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. [-]
nuclear type mitochondrial complex I deficiency 13	MC1DN13	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. [-]
nuclear type mitochondrial complex I deficiency 24	MC1DN24	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. [-]
nuclear type mitochondrial complex I deficiency 32	MC1DN32	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. [-]
nuclear type mitochondrial complex I deficiency 29	MC1DN29	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. [-]
nuclear type mitochondrial complex I deficiency 7	MC1DN7	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. [-]
nuclear type mitochondrial complex I deficiency 16	MC1DN16	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. [-]
nuclear type mitochondrial complex I deficiency 12	MC1DN12	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. [-]
Noonan syndrome 11	NS11	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. [-]
urinary system disease	Non-neoplastic urinary tract disease; urinary trac.. [+] Non-neoplastic urinary tract disease; urinary tract disease [-]	A disease of anatomical entity that is located_in ..[+] A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. [-]
vaginal cancer	neoplasm of vagina (disorder); malignant neoplasm .. [+] neoplasm of vagina (disorder); malignant neoplasm of vagina; malignant tumor of vagina (disorder); malignant vaginal tumor; vagina neoplasm; vaginal tumor [-]	A female reproductive system cancer that is locate..[+] A female reproductive system cancer that is located_in the vagina. [-]
endocrine gland cancer	neoplasm of endocrine system (disorder); neoplasm .. [+] neoplasm of endocrine system (disorder); neoplasm of endocrine gland (disorder); endocrine neoplasm; Endocrine tumor; malignant Endocrine tumor; malignant neoplasm of endocrine gland; malignant tumour of endocrine gland [-]	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. [-]
vascular cancer	neoplasm of great vessel; Blood Vessel neoplasm; b.. [+] neoplasm of great vessel; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumors (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; leiomyosarcoma of the renal Vein; malignant great vessel tumor; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; pulmonary artery malignant neoplasm; pulmonary vein malignant neoplasm; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
bone cancer	neoplasm of bone; bone neoplasm; bone tumour; CA -.. [+] neoplasm of bone; bone neoplasm; bone tumour; CA - bone cancer; malignant bone neoplasm; malignant bone tumour; malignant neoplasm of bone; malignant osseous tumor; osseous tumor [-]	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. [-]
connective tissue cancer	neoplasm of connective tissues; connective tissue .. [+] neoplasm of connective tissues; connective tissue neoplasm; Tumour of connective tissue; mesenchymal tissue malignant neoplasm [-]	A musculoskeletal system cancer that is located_in..[+] A musculoskeletal system cancer that is located_in connective tissue. [-]
colonic benign neoplasm	neoplasm of colon (disorder); colon neoplasm; Colo.. [+] neoplasm of colon (disorder); colon neoplasm; Colonic Mass; Colonic tumor [-]	An intestinal benign neoplasm that is located_in t..[+] An intestinal benign neoplasm that is located_in the colon. [-]
trachea leiomyoma	neoplasm of trachea (disorder); leiomyoma of the T.. [+] neoplasm of trachea (disorder); leiomyoma of the Trachea; trachea neoplasm; tracheal neoplasm; Tracheal tumor [-]	n_a
lacrimal system cancer	neoplasm of lacrimal system (disorder); lacrimal s.. [+] neoplasm of lacrimal system (disorder); lacrimal system neoplasm; tumor of the lacrimal system [-]	n_a
lacrimal gland cancer	neoplasm of lacrimal gland (disorder); malignant n.. [+] neoplasm of lacrimal gland (disorder); malignant neoplasm of lacrimal gland; malignant tumour of lacrimal gland; tumor of the lacrimal gland [-]	n_a
spinal accessory nerve neoplasm	neoplasm of accessory nerve (disorder); XIth Crani.. [+] neoplasm of accessory nerve (disorder); XIth Cranial nerve tumors [-]	n_a
uterine cancer	neoplasm of uterus; CA - cancer of uterus; maligna.. [+] neoplasm of uterus; CA - cancer of uterus; malignant neoplasm of uterus; malignant uterine tumor; Tumour of uterus; uterine tumor; uterus neoplasm [-]	A female reproductive organ cancer that is located..[+] A female reproductive organ cancer that is located_in the uterus. [-]
olfactory nerve neoplasm	neoplasm of olfactory nerve (disorder); tumor of O.. [+] neoplasm of olfactory nerve (disorder); tumor of Olfactory nerve [-]	n_a
cerebrum cancer	neoplasm of cerebrum; neoplasm of cerebrum (disord.. [+] neoplasm of cerebrum; neoplasm of cerebrum (disorder); cerebral cancer; tumor of Cerebrum [-]	A supratentorial cancer that is located_in the cer..[+] A supratentorial cancer that is located_in the cerebrum. [-]
muscle benign neoplasm	neoplasm of muscle (disorder); muscle neoplasm; mu.. [+] neoplasm of muscle (disorder); muscle neoplasm; muscle tissue neoplasm; Myomatous neoplasm; Myomatous tumor [-]	n_a
central nervous system mesenchymal non-meningothelial tumor	Non-meningothelial mesenchymal tumor	n_a
epididymal neoplasm	neoplasm of epididymis (disorder)	n_a
scrotum neoplasm	neoplasm of scrotum; neoplasm of scrotum (disorder.. [+] neoplasm of scrotum; neoplasm of scrotum (disorder); malignant Scrotal neoplasm; malignant tumor of scrotum (disorder); malignant tumour of scrotum; Scrotal Ca; Scrotal tumor; scrotum cancer; malignant tumor of scrotum [-]	n_a
sleep disorder	Non-organic sleep disorder	A disease of mental health that involves disruptio..[+] A disease of mental health that involves disruption of sleep patterns. [-]
kidney disease	nephropathy	A urinary system disease that is located_in the ki..[+] A urinary system disease that is located_in the kidney. [-]
adrenal cortex cancer	neoplasm of adrenal cortex (disorder); Adrenal cor.. [+] neoplasm of adrenal cortex (disorder); Adrenal cortical tumors NOS (disorder); malignant Adrenocortical tumor; malignant neoplasm of adrenal cortex; malignant tumour of adrenal cortex [-]	n_a
urethral benign neoplasm	neoplasm of urethra (disorder); neoplasm. urethra; .. [+] neoplasm. urethra; neoplasm of urethra (disorder) [-]	n_a
urinary system benign neoplasm	neoplasm of urinary system; tumor of the urinary s.. [+] neoplasm of urinary system; tumor of the urinary system; tumor of urinary tract; urinary tract neoplasm [-]	An organ system benign neoplasm that is located_in..[+] An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. [-]
retinoblastoma	neuroblastoma of Retina; RB; RB - Retinoblastoma	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. [-]
occipital lobe neoplasm	neoplasm of occipital lobe (disorder); malignant n.. [+] neoplasm of occipital lobe (disorder); malignant neoplasm of occipital lobe; malignant neoplasm of occipital lobe (disorder); tumor of Occipital Lobe [-]	n_a
aggressive NK-cell leukemia	natural killer cell leukemia; natural killer cell .. [+] 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 [-]	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. [-]
Hartnup disease	neutral amino acid transport defect; Neutral 1 ami.. [+] neutral amino acid transport defect; Neutral 1 amino acid transport defect (disorder); deficiency of tryptophan oxygenase [-]	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. [-]
peripheral nervous system neoplasm	nerve sheath tumors; neoplasm of peripheral nerve; .. [+] neoplasm of peripheral nerve; nerve sheath tumors; nerve sheath neoplasm; neoplasm of peripheral nerve (disorder); tumor of PNS [-]	A nervous system cancer that is located in the per..[+] A nervous system cancer that is located in the peripheral nervous system. [-]
trigeminal nerve neoplasm	neoplasm of trigeminal nerve (disorder); tumor of .. [+] neoplasm of trigeminal nerve (disorder); tumor of Trigeminal nerve [-]	n_a
vulva cancer	neoplasm of vulva (disorder); neoplasm of vulva; C.. [+] neoplasm of vulva; neoplasm of vulva (disorder); Ca vulva; malignant neoplasm of vulva unspecified; malignant neoplasm of vulva unspecified (disorder); malignant neoplasm of vulva, NOS; malignant neoplasm of vulva, unspecified; malignant tumor of vulva (disorder); malignant Vulvar tumor; vulval cancer; vulval neoplasm; vulvar neoplasm; Vulvar tumor; malignant neoplasm of vulva; malignant tumor of vulva [-]	A female reproductive organ cancer that is located..[+] A female reproductive organ cancer that is located_in the vulva. [-]
brain cancer	neoplasm of brain; neoplasm of unspecified nature .. [+] neoplasm of brain; neoplasm of unspecified nature of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of brain (disorder); adult brain tumor; adult malignant brain neoplasm; brain neoplasm; brain neoplasm, adult; BT - Brain tumour; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; malignant tumor of adult brain; malignant tumor of Brain; primary brain neoplasm; primary brain tumor; primary malignant neoplasm of brain (disorder); tumor of the Brain; primary malignant neoplasm of brain [-]	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. [-]
urethritis	Nongonococcal urethritis (disorder); Non-Gonococca.. [+] Nongonococcal urethritis (disorder); Non-Gonococcal Urethritis [-]	n_a
paranasal sinus neoplasm	neoplasm of accessory sinus; tumor of Accessory si.. [+] neoplasm of accessory sinus; tumor of Accessory sinus [-]	n_a
maxillary sinus benign neoplasm	neoplasm of maxillary sinus; neoplasm of maxillary.. [+] neoplasm of maxillary sinus; neoplasm of maxillary sinus (disorder); tumor of Maxillofacial sinus [-]	n_a
frontal sinus neoplasm	neoplasm of frontal sinus (disorder); tumor of the.. [+] neoplasm of frontal sinus (disorder); tumor of the Frontal sinus [-]	n_a
ethmoidal sinus neoplasm	neoplasm of ethmoidal sinus (disorder); tumor of e.. [+] neoplasm of ethmoidal sinus (disorder); tumor of ethmoidal sinus [-]	n_a
endometrial cancer	neoplasm of endometrium (disorder); endometrial Ca.. [+] neoplasm of endometrium (disorder); endometrial Ca; endometrial neoplasm; malignant endometrial neoplasm; malignant neoplasm of endometrium; primary malignant neoplasm of endometrium; tumor of Endometrium [-]	A uterine cancer that is located_in tissues lining..[+] A uterine cancer that is located_in tissues lining the uterus. [-]
cecal benign neoplasm	neoplasm of caecum; cecum neoplasm	An intestinal benign neoplasm that is located_in t..[+] An intestinal benign neoplasm that is located_in the cecum. [-]
pleural disease	non-neoplastic pleural disease; disorder of pleura.. [+] non-neoplastic pleural disease; disorder of pleura [-]	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. [-]
parathyroid carcinoma	neoplasm of parathyroid gland; carcinoma of Parath.. [+] neoplasm of parathyroid gland; carcinoma of Parathyroid gland; malignant neoplasm of parathyroid gland; malignant neoplasm of the Parathyroid; malignant tumor of parathyroid gland (disorder); parathyroid gland adenocarcinoma; parathyroid gland cancer; Parathyroid gland neoplasm; parathyroid neoplasm [-]	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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