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Disease	Synonyms	Description	Articles	Phenotypes
blood protein disease	blood protein disorder;	n_a	1 articles
blue color blindness	Tritan defect; Tritanopia;	A color blindness that is characterized by a selec..[+] A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. [-]
blue cone monochromacy		An achromatopsia that is characterized by severely..[+] An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. [-]
blue drum syndrome	acute mucoid otitis media;	A acute transudative otitis media involving thick,..[+] A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. [-]
blue toe syndrome		n_a
body dysmorphic disorder	body dysmorphia; dysmorphophobia; dysmorphic syndr.. [+] body dysmorphia; dysmorphophobia; dysmorphic syndrome; [-]	A somatoform disorder that involves an excessive c..[+] A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). [-]
bone ameloblastoma		A bone benign neoplasm that has_material_basis_in ..[+] A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. [-]
bone angioendothelial sarcoma	osseous hemangiosarcoma;	n_a
bone benign neoplasm		A connective tissue benign neoplasm that is locate..[+] A connective tissue benign neoplasm that is located_in bone. [-]
bone cancer	CA - bone cancer; malignant bone neoplasm; maligna.. [+] CA - bone cancer; malignant bone neoplasm; malignant bone tumour; osseous tumor; bone tumour; malignant neoplasm of bone; bone neoplasm; malignant osseous tumor; neoplasm of bone; [-]	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
bone carcinoma		A bone cancer that has_material_basis_in abnormall..[+] A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [-]
bone chondrosarcoma		A chondrosarcoma that is located_in bone.
bone deterioration disease		A bone structure disease that results_in change or..[+] A bone structure disease that results_in change or damage of structure located_in bone. [-]
bone development disease		A bone disease that results_in abnormal growth and..[+] A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. [-]	23 articles	9 matches
bone disease	skeletal disease;	A connective tissue disease that affects the struc..[+] A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. [-]	56 articles	40 matches
bone epithelioid hemangioma	hemangioma of bone; osseous epithelioid hemangioma.. [+] hemangioma of bone; osseous epithelioid hemangioma; bone hemangioma; osseous hemangioma; [-]	n_a
bone giant cell sarcoma	Giant cell tumor of bone, malignant (morphologic a.. [+] Giant cell tumor of bone, malignant (morphologic abnormality); Giant cell tumor of bone, malignant; Giant cell sarcoma of the bone; [-]	A malignant giant cell tumor that is composed_of m..[+] A malignant giant cell tumor that is composed_of multinucleated giant cells. [-]
bone giant cell tumor	Giant cell neoplasm of bone; Giant cell tumor of b.. [+] Giant cell neoplasm of bone; Giant cell tumor of bone (morphologic abnormality); Giant cell tumor of bone NOS (morphologic abnormality); osteoclastoma; giant cell myeloma; bone giant cell tumour; Giant cell tumor of bone; Giant cell tumour of bone; [-]	A benign giant cell tumor that results_in the pres..[+] A benign giant cell tumor that results_in the presence of multinucleated giant cells. [-]
bone inflammation disease	Inflammatory disorder of bone; osteitis; bone infl.. [+] Inflammatory disorder of bone; osteitis; bone inflammatory disease; [-]	A bone disease that results_in inflammation of the..[+] A bone disease that results_in inflammation of the located_in bone. [-]	9 articles
bone leiomyosarcoma		n_a
bone lymphoma	lymphoma of bone; Lymphoma of the bone;	A bone cancer and lymphoma by site that results_in..[+] A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. [-]
bone marrow cancer	bone marrow neoplasm; bone Marrow tumor; malignant.. [+] bone marrow neoplasm; bone Marrow tumor; malignant bone Marrow tumor; malignant neoplasm of bone marrow; [-]	A hematopoietic cancer that derives_from the blood..[+] A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. [-]	3 articles
bone marrow disease	bone marrow disorder;	A hematopoietic system disease that is located_in ..[+] A hematopoietic system disease that is located_in the bone marrow. [-]	8 articles
bone osteosarcoma	Osteosarcoma of bone (disorder); primary Osteosarc.. [+] Osteosarcoma of bone (disorder); primary Osteosarcoma of bone; Osteosarcoma of bone; [-]	An osteosarcoma that is an usually aggressive mali..[+] An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. [-]
bone peripheral neuroepithelioma	osseous peripheral Neuroepithelioma;	n_a
bone remodeling disease		A bone disease that results_in formation or resorp..[+] A bone disease that results_in formation or resorption abnormalities located_in bone. [-]	9 articles
bone resorption disease		A bone remodeling disease that results in an abnor..[+] A bone remodeling disease that results in an abnormal decrease of bone density or mass. [-]	1 articles
bone sarcoma		A bone cancer that has_material_basis_in abnormall..[+] A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. [-]
bone squamous cell carcinoma		A bone carcinoma that derives_from squamous epithe..[+] A bone carcinoma that derives_from squamous epithelial cells. [-]
bone structure disease		A bone disease that has_material_basis_in an abnor..[+] A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. [-]	5 articles	23 matches
borderline glaucoma	Preglaucoma;	A glaucoma characterized by clinical features and ..[+] A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. [-]
borderline leprosy	Borderline leprosy (disorder); Borderline leprosy .. [+] Borderline leprosy (disorder); Borderline leprosy [group B]; Midborderline leprosy (disorder); Borderline leprosy; Borderline or dimorphous leprosy; Midborderline leprosy; [-]	A leprosy that results in small numerous red irreg..[+] A leprosy that results in small numerous red irregularly shaped plaques. [-]
borderline personality disorder		A personality disorder that involves a prolonged d..[+] A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. [-]
borna disease	Enzootic encephalomyelitis;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. [-]
botryoid rhabdomyosarcoma	Botryoid sarcoma (morphologic abnormality); Botryo.. [+] Botryoid sarcoma (morphologic abnormality); Botryoid-type Embryonal Rhabdomyosarcoma; sarcoma botryoides; Botryoid sarcoma; [-]	n_a
botulism	Food poisoning due to Clostridium botulinum; Infec.. [+] Food poisoning due to Clostridium botulinum; Infection due to clostridium botulinum; Botulism poisoning; Intoxication with Clostridium botulinum toxin; Foodborne botulism; [-]	A primary bacterial infectious disease that involv..[+] A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. [-]
boutonneuse fever	african tick typhus; African tick typhus (disorder.. [+] african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; Mediterranean spotted fever; Mediterranean tick fever; South African tick-bite fever (disorder); African tick typhus; marseilles fever; South African tick-bite fever; Rickettsia conorii spotted fever; Conor and Bruch's disease; Kenyan tick typhus; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
bowel dysfunction		n_a
brachial plexus lesion	Brachial plexus lesions NOS (disorder); Brachial p.. [+] Brachial plexus lesions NOS (disorder); Brachial plexus lesions; [-]	A brachial plexus neuropathy characterized by an a..[+] A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. [-]
brachial plexus neoplasm	tumor of the Brachial Plexus;	n_a
brachial plexus neuritis	Brachial neuritis (disorder); Parsonage-Aldren-Tur.. [+] Brachial neuritis (disorder); Parsonage-Aldren-Turner syndrome; Brachial neuritis; [-]	A brachial plexus neuropathy that affects the ches..[+] A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. [-]
brachial plexus neuropathy	Brachial plexus disorder; brachial plexopathy;	A peripheral nervous system disease that is charac..[+] A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. [-]
brachycephaly, trichomegaly, and developmental delay	BTDD; Macinnes syndrome; MCINS;	A syndrome characterized by brachycephaly, trichom..[+] A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. [-]
brachydactyly		A dysostosis characterized by short fingers and to..[+] A dysostosis characterized by short fingers and toes. [-]	1 articles
brachydactyly type A1	BDA1; Farabee type brachydactyly;	A brachydactyly characterized by rudimentary or fu..[+] A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. [-]
brachydactyly type A1B	BDA1B;	A brachydactyly type A1 characterized by shortened..[+] A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. [-]
brachydactyly type A1C	BDA1C;	A brachydactyly type A1 has_material_basis_in homo..[+] A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
brachydactyly type A1D	BDA1D;	A brachydactyly type A1 that has_material_basis_in..[+] A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
brachydactyly type A2	BDA2; Mohr-Wriedt type brachydactyly; brachymesoph.. [+] BDA2; Mohr-Wriedt type brachydactyly; brachymesophalangy II; [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. [-]
brachydactyly type A3	BDA3; brachydactyly-clinodactyly; brachymesophalan.. [+] BDA3; brachydactyly-clinodactyly; brachymesophalangy V; [-]	A brachydactyly characterized by shortening of the..[+] A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. [-]

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