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Disease	Synonyms	Description	Articles	Phenotypes
aminoglycoside-induced deafness	streptomycin-induced deafness; streptomycin ototox.. [+] streptomycin-induced deafness; streptomycin ototoxicity [-]	A drug-induced hearing loss characterized by heari..[+] A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. [-]
adult-onset ataxia and polyneuropathy		A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. [-]	1 articles
autosomal-mitochondrial sensorineural deafness		A sensorineural hearing loss characterized by prog..[+] A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. [-]
autosomal recessive congenital nystagmus	autosomal recessive congenital motor nystagmus	A congenital nystagmus characterized by autosomal ..[+] A congenital nystagmus characterized by autosomal recessive inheritance. [-]
autosomal hemophilia A	autosomal Factor VIII deficiency	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal inheritance of a Factor VIII deficiency. [-]
Aarskog syndrome	Aarskog-Scott syndrome; faciodigitogenital syndrom.. [+] Aarskog-Scott syndrome; faciodigitogenital syndrome; faciogenital dysplasia [-]	A syndrome characterized by facial, limbs and geni..[+] A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. [-]
autosomal dominant Aarskog syndrome		An Aarskog syndrome characterized by autosomal dom..[+] An Aarskog syndrome characterized by autosomal dominant inheritance. [-]
Abruzzo-Erickson syndrome	cleft palate-coloboma-deafness syndrome; CHARGE-li.. [+] cleft palate-coloboma-deafness syndrome; CHARGE-like syndrome, X-linked [-]	A syndrome characterized by cleft palate, coloboma..[+] A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. [-]
AMME complex	AMME syndrome; ATS-MR; Alport syndrome-intellectua.. [+] ATS-MR; AMME syndrome; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; chromosome Xq22.3 telomeric deletion syndrome [-]	A syndrome characterized by Alport syndrome, menta..[+] A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. [-]
autosomal recessive congenital bilateral absence of vas deferens		A congenital bilateral absence of vas deferens tha..[+] A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. [-]
autosomal dominant thrombophilia due to protein S deficiency	THPH5	A protein S deficiency characterized by reduced se..[+] A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
autosomal recessive thrombophilia due to protein C deficiency	autosomal recessive protein C deficiency; autosoma.. [+] autosomal recessive protein C deficiency; autosomal recessive PROC deficiency; THPH4 [-]	A protein C deficiency characterized by typically ..[+] A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal recessive thrombophilia due to protein S deficiency	autosomal recessive thrombophilia due to congenita.. [+] autosomal recessive thrombophilia due to congenital protein S deficiency; severe hereditary thrombophilia due to congenital protein S deficiency; THPH6 [-]	A protein S deficiency characterized by thrombosis..[+] A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
autosomal dominant thrombophilia due to protein C deficiency	autosomal dominant protein C deficiency; autosomal.. [+] autosomal dominant protein C deficiency; autosomal dominant PROC deficiency; THPH3 [-]	A thrombophilia characterized by reduced serum lev..[+] A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	autosomal dominant Olmsted syndrome; OLMS1; Olmste.. [+] autosomal dominant Olmsted syndrome; OLMS1; Olmsted syndrome 1 [-]	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. [-]
alpha-thalassemia myelodysplasia syndrome	alpha-thalassemia-myelodysplastic syndrome; ATMDS; .. [+] ATMDS; alpha-thalassemia-myelodysplastic syndrome; acquired hemoglobin H disease; acquired HbH disease [-]	A syndrome characterized by acquired alpha-thalass..[+] A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. [-]
autosomal dominant severe congenital neutropenia		A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. [-]
autosomal dominant nonsyndromic deafness 78	DFNA78	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. [-]
autosomal dominant nonsyndromic deafness 79	DFNA79	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. [-]
autosomal recessive nonsyndromic deafness 116	DFNB116	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. [-]
autosomal dominant nonsyndromic deafness 74	DFNA74	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. [-]
autosomal dominant nonsyndromic deafness 75	DFNA75	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. [-]
autosomal dominant nonsyndromic deafness 76	DFNA76	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. [-]
autosomal dominant nonsyndromic deafness 77	DFNA77	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. [-]
alopecia, neurologic defects, and endocrinopathy syndrome	ANE syndrome; ANES; alopecia-progressive neurologi.. [+] ANES; ANE syndrome; alopecia-progressive neurological defect-endocrinopathy syndrome [-]	A syndrome characterized by alopecia, neurologic d..[+] A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. [-]
autosomal dominant spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda that has_mate..[+] A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. [-]
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. [-]
autosomal recessive spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. [-]
axial spondylometaphyseal dysplasia	SMD axial; SMDAX	A spondylometaphyseal dysplasia characterized by p..[+] A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. [-]
alacrima, achalasia, and impaired intellectual development syndrome	alacrima, achalasia, and mental retardation syndro.. [+] alacrima, achalasia, and mental retardation syndrome; AAMR [-]	A congenital disorder of glycosylation characteriz..[+] A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. [-]
autosomal dominant auditory neuropathy 3	AUNA3	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. [-]
lymphatic system disease	Adenopathy; disease of lympoid system; disorder of.. [+] Adenopathy; disease of lympoid system; disorder of lymphatic system; Lymphangiopathy, NOS; Lymphatic disease; Lymphatic disorder; lympoid system disease; disorder of lymph node and lymphatics (disorder); disorder of lymphoid system; Lymphangiopathy; lymphatic disorder; disorder of lymph node and lymphatics [-]	An immune system disease that is located_in the ly..[+] An immune system disease that is located_in the lymphatic system. [-]	6 articles
gastrointestinal system disease	alimentary system disease; digestive system disord.. [+] alimentary system disease; digestive system disorder; gastrointestinal disorder; GIT disease; Gastroenteropathy; gastrointestinal disease [-]	A disease of anatomical entity that is located_in ..[+] A disease of anatomical entity that is located_in the gastrointestinal tract. [-]	58 articles	14 matches
lateral sclerosis	adult-onset primary lateral sclerosis; primary lat.. [+] adult-onset primary lateral sclerosis; primary lateral sclerosis [-]	A motor neuron disease characterized by painless b..[+] A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. [-]
colon adenocarcinoma	adenocarcinoma of colon; adenocarcinoma of the col.. [+] adenocarcinoma of colon; adenocarcinoma of the colon; Colonic adenocarcinoma [-]	A colon carcinoma that derives_from epithelial cel..[+] A colon carcinoma that derives_from epithelial cells of glandular origin. [-]	1 articles
spleen angiosarcoma	angiosarcoma of spleen; angiosarcoma of spleen (di.. [+] angiosarcoma of spleen; angiosarcoma of spleen (disorder); Splenic hemangiosarcoma [-]	An angiosarcoma and hemangioma of intra-abdominal ..[+] An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. [-]
liver angiosarcoma	angiosarcoma of liver; angiosarcoma of liver (diso.. [+] angiosarcoma of liver; angiosarcoma of liver (disorder); hemangiosarcoma of the Liver [-]	An angiosarcoma and sarcoma of liver and hemangiom..[+] An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. [-]
hemangioma of liver	Angioma of Liver; hepatic angioma	n_a
endometriosis of uterus	adenomyosis; Endometriosis of myometrium; uterine .. [+] adenomyosis; Endometriosis of myometrium; uterine Adenomyosis; Endometriosis, myometrium; Endometriosis interna [-]	A uterine disease that is characterized by the pre..[+] A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium. [-]
lacrimal gland adenocarcinoma	adenocarcinoma of lacrimal gland	A lacrimal gland carcinoma that derives_from epith..[+] A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. [-]
peripheral vascular disease	arterial occlusive disease	A vascular disease that is characterized by obstru..[+] A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. [-]	2 articles
olfactory neuroblastoma	Asthesioneuroblastoma; Asthesioneuroblastoma (morp.. [+] Asthesioneuroblastoma; Asthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Esthesioneuroepithelioma [dup] (morphologic abnormality); Olfactory Esthesioneuroblastoma; Esthesioneuroblastoma (morphologic abnormality); paranasal sinus Olfactory neuroblastoma; Esthesioneuroepithelioma; Esthesioneuroblastoma [-]	n_a
Wolff-Parkinson-White syndrome	anomalous atrioventricular excitation; Anomalous A.. [+] anomalous atrioventricular excitation; Anomalous A-V excitation; Wolff-Parkinson-White pattern (finding); Wolff-Parkinson-White pattern [-]	n_a
Bartter disease	Aldosteronism with hyperplasia of the adrenal cort.. [+] Aldosteronism with hyperplasia of the adrenal cortex; Bartter's syndrome [-]	n_a	8 articles
skin hemangioma	Angiomatous naevus of skin; Angioma of the skin	n_a
histiocytoid hemangioma	Angiolymphoid hyperplasia with eosinophilia; Angio.. [+] Angiolymphoid hyperplasia with eosinophilia; Angiolymphoid hyperplasia with eosinophilia (disorder); epithelioid haemangioma; epithelioid hemangioma (morphologic abnormality); epithelioid hemangioma [-]	n_a
breast hemangioma	Angioma of the breast; hemangioma of breast	A breast benign neoplasm that is characterized by ..[+] A breast benign neoplasm that is characterized by a collection of excess blood vessels. [-]
toxic pneumonitis	acute chemical fume pulmonary edema; acute chemica.. [+] acute chemical fume pulmonary edema; acute chemical pulmonary edema [-]	A pneumonia that is an acute inflammation of the l..[+] A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. [-]
pneumonia	acute pneumonia	A lung disease that involves lung parenchyma or al..[+] A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. [-]	3 articles	22 matches
jaw-winking syndrome	abnormal innervation syndrome of eyelid; Jaw-blink.. [+] abnormal innervation syndrome of eyelid; Jaw-blinking; Marcus-Gunn syndrome; Pterygoid-levator synkinesis [-]	A cranial nerve disease characterized by unilatera..[+] A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. [-]

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