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Disease	Synonyms	Description	Articles	Phenotypes
nuclear type mitochondrial complex I deficiency 18	MC1DN18	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 NDUFAF3 gene on chromosome 2p21.31. [-]
nuclear type mitochondrial complex I deficiency 31	MC1DN31	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 TIMMDC1 gene on chromosome 3q13.33. [-]
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 9	MC1DN9	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 NDUFS6 gene on chromosome 5p15.33. [-]
nuclear type mitochondrial complex I deficiency 1	MC1DN1	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 NDUFS4 gene on chromosome 5q11.2. [-]
nuclear type mitochondrial complex I deficiency 10	MC1DN10	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 NDUFAF2 gene on chromosome 5q12.1. [-]
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 15	MC1DN15	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 NDUFAF4 gene on chromosome 6q16.1. [-]
nuclear type mitochondrial complex I deficiency 17	MC1DN17	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 NDUFAF6 gene on chromosome 8q22.1. [-]
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 8	MC1DN8	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 NDUFS3 gene on chromosome 11p11.2. [-]
nuclear type mitochondrial complex I deficiency 4	MC1DN4	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 NDUFV1 gene on chromosome 11q13.2. [-]
nuclear type mitochondrial complex I deficiency 2	MC1DN2	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 NDUFS8 gene on chromosome 11q13.2. [-]
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 19	MC1DN19	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 FOXRED1 gene on chromosome 11q24.2. [-]
nuclear type mitochondrial complex I deficiency 26	MC1DN26	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 NDUFA9 gene on chromosome 12p13.32. [-]
nuclear type mitochondrial complex I deficiency 23	MC1DN23	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 NDUFA12 gene on chromosome 12q22. [-]
nuclear type mitochondrial complex I deficiency 21	MC1DN21	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 NUBPL gene on chromosome 14q12. [-]
nuclear type mitochondrial complex I deficiency 11	MC1DN11	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 NDUFAF1 gene on chromosome 15q15.1. [-]
nuclear type mitochondrial complex I deficiency 27	MC1DN27	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 MTFMT gene on chromosome 15q22.31. [-]
nuclear type mitochondrial complex I deficiency 34	MC1DN34	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 NDUFAF8 gene on chromosome 17q25.3. [-]
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 3	MC1DN3	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 NDUFS7 gene on chromosome 19p13.3. [-]
nuclear type mitochondrial complex I deficiency 14	MC1DN14	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 NDUFA11 gene on chromosome 19p13.3. [-]
nuclear type mitochondrial complex I deficiency 28	MC1DN28	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 NDUFA13 gene on chromosome 19p13.11. [-]
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 33	MC1DN33	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 NDUFA6 gene on chromosome 22q13.2. [-]
nuclear type mitochondrial complex I deficiency 30	MC1DN30	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. [-]
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. [-]
nephrogenic syndrome of inappropriate antidiuresis	NSIAD	A renal tubular transport disease characterized by..[+] A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. [-]
nuclear type mitochondrial complex I deficiency 35	MC1DN35	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 NDUFB10 gene on chromosome 16p13.3. [-]
Noonan syndrome 13	NS13	A Noonan syndrome characterized by developmental d..[+] A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. [-]
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. [-]
Noonan syndrome 12	NS12	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. [-]
N-acetylglutamate synthase deficiency	NAG synthetase deficiency; NAGS deficiency; N-acet.. [+] NAGS deficiency; NAG synthetase deficiency; N-acetylglutamate synthetase deficiency; N-acetyl glutamate synthetase deficiency; hyperammonemia due to N-acetylglutamate synthase deficiency [-]	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. [-]
nephrotic syndrome type 23	NPHS23	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. [-]
nephrotic syndrome type 21	NPHS21	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. [-]
nephrotic syndrome type 22	NPHS22	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. [-]
neurodevelopmental disorder with involuntary movements	NEDIM	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. [-]
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. [-]	100 articles	72 matches
vaginal cancer	neoplasm of vagina (disorder); neoplasm of vagina; .. [+] 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 [-]	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; neoplasm of endocrin.. [+] 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 [-]	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. [-]	9 articles	11 matches
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 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 [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
bone cancer	neoplasm of bone; CA - bone cancer; malignant bone.. [+] 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 [-]	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. [-]	8 articles	8 matches
connective tissue cancer	neoplasm of connective tissues; Tumour of connecti.. [+] neoplasm of connective tissues; Tumour of connective tissue; connective tissue neoplasm; mesenchymal tissue malignant neoplasm [-]	A musculoskeletal system cancer that is located_in..[+] A musculoskeletal system cancer that is located_in connective tissue. [-]	8 articles	8 matches
colonic benign neoplasm	neoplasm of colon (disorder); neoplasm of colon; C.. [+] neoplasm of colon; neoplasm of colon (disorder); Colonic Mass; Colonic tumor; colon neoplasm [-]	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); tracheal neoplasm; .. [+] neoplasm of trachea (disorder); tracheal neoplasm; Tracheal tumor; trachea neoplasm; leiomyoma of the Trachea [-]	A respiratory system benign neoplasm that derives_..[+] A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. [-]
lacrimal system cancer	neoplasm of lacrimal system; neoplasm of lacrimal .. [+] neoplasm of lacrimal system; neoplasm of lacrimal system (disorder); lacrimal system neoplasm; tumor of the lacrimal system [-]	n_a
lacrimal gland cancer	neoplasm of lacrimal gland; neoplasm of lacrimal g.. [+] neoplasm of lacrimal gland; neoplasm of lacrimal gland (disorder); malignant neoplasm of lacrimal gland; malignant tumour of lacrimal gland; tumor of the lacrimal gland [-]	n_a