Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
brachydactyly type A4	BDA4; brachymesophalangy II and V; Temtamy type br.. [+] BDA4; brachymesophalangy II and V; Temtamy type brachydactyly; [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. [-]
brachydactyly type A6	BDA6; brachymesophalangy with mesomelic short limb.. [+] BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; Osebold-Remondini syndrome; [-]	A brachydactyly characterized by brachymesophalang..[+] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. [-]
brachydactyly type B1	BDB1;	A brachydactyly characterized by short middle phal..[+] A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. [-]
brachydactyly type B2	BDB2;	A brachydactyly characterized by hypoplasia/aplasi..[+] A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. [-]
brachydactyly type C	BDC;	A brachydactyly characterized by rachymesophalangy..[+] A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
brachydactyly type D	BDD;	A brachydactyly characterized by short and broad t..[+] A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. [-]
brachydactyly type E1	BDE1;	A brachydactyly characterized by shortening of the..[+] A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [-]
brachydactyly type E2	BDE2;	A characterized byautosomal dominant inheritance o..[+] A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. [-]
brachydactyly-preaxial hallux varus syndrome	preaxial brachydactyly with hallux varus and thumb.. [+] preaxial brachydactyly with hallux varus and thumb abduction; Christian brachydactyly; [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. [-]
brachydactyly-syndactyly syndrome		A syndrome that is characterized by brachydactyly ..[+] A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [-]
brachyolmia	brachyrachia;	An osteochondrodysplasia characterized by generali..[+] An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. [-]	1 articles
brachyolmia-amelogenesis imperfecta syndrome	dental anomalies and short stature; STHAG6; DASS; .. [+] dental anomalies and short stature; STHAG6; DASS; selective tooth agenesis 5; platyspondyly with amelogenesis imperfecta; [-]	A syndrome characterized by skeletal dysplasia (br..[+] A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. [-]
bradyopsia	prolonged electroretinal response suppression;	A retinal disease characterized by the slower than..[+] A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. [-]
bradyopsia 1	prolonged electroretinal response suppression 1;	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. [-]
bradyopsia 2	prolonged electroretinal response suppression 2;	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
brain angioma		n_a
brain cancer	brain neoplasm; malignant brain tumour; malignant .. [+] brain neoplasm; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; neoplasm of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of unspecified nature of brain (disorder); 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; neoplasm of brain; primary malignant neoplasm of brain; adult malignant brain neoplasm; malignant tumor of adult 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. [-]	9 articles	18 matches
brain compression		A brain disease that is characterized by pressure ..[+] A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. [-]
brain disease	encephalopathy;	A central nervous system disease that is located_i..[+] A central nervous system disease that is located_in the brain. [-]	136 articles	32 matches
brain edema	wet brain; intracranial swelling;	A brain disease that is characterized by excess ac..[+] A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. [-]	1 articles
brain ependymoma	Ependymal tumor of brain; Ependymoma of brain (dis.. [+] Ependymal tumor of brain; Ependymoma of brain (disorder); Ependymoma of brain; [-]	A brain glioma that is characterized by tumor of t..[+] A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. [-]
brain germinoma	intracranial germinoma; germinoma of the brain;	n_a
brain glioblastoma multiforme	brain Glioblastoma; Glioblastoma multiforme of bra.. [+] brain Glioblastoma; Glioblastoma multiforme of brain (disorder); Glioblastoma multiforme of brain; [-]	A brain glioma that has_material_basis_in abnormal..[+] A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. [-]
brain glioma	lower grade glioma;	A brain cancer that has_material_basis_in glial ce..[+] A brain cancer that has_material_basis_in glial cells. [-]	1 articles
brain infarction		n_a
brain ischemia	Ischaemic encephalopathy; Ischemic encephalopathy .. [+] Ischaemic encephalopathy; Ischemic encephalopathy (disorder); cerebral ischemia; Ischemic encephalopathy; [-]	An ischemia that is characterized by insufficient ..[+] An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. [-]	1 articles
brain meningioma		A brain cancer that is characterized by tumor of t..[+] A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. [-]
brain oligodendroglioma	brain Oligodendroglioma; Oligodendroglioma of brai.. [+] brain Oligodendroglioma; Oligodendroglioma of brain (disorder); Oligodendroglioma of brain; [-]	A brain glioma that has_material_basis_in oligoden..[+] A brain glioma that has_material_basis_in oligodendrocytes. [-]
brain sarcoma	sarcoma of the brain;	A brain cancer that is characterized by abnormally..[+] A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. [-]
brain small vessel disease		A brain disease characterized by abnormalities in ..[+] A brain disease characterized by abnormalities in the small blood vessels in the brain. [-]
brain small vessel disease 1	brain small vessel disease with Axenfeld-Riegar an.. [+] brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; BSVD1; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
brain small vessel disease 2	BSVD2; porencephaly 2;	A brain small vessel disease characterized by dist..[+] A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. [-]
brain small vessel disease 3	BSVD3;	A brain small vessel disease characterized by impa..[+] A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. [-]
brain stem angioblastoma	Hemangioblastoma of Brainstem;	A brain stem cancer that is characterized by slow ..[+] A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. [-]
brain stem astrocytic neoplasm	Brainstem astrocytoma;	A brain stem glioma that is characterized by mass ..[+] A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. [-]
brain stem cancer	malignant neoplasm of brainstem; malignant neoplas.. [+] malignant neoplasm of brainstem; malignant neoplasm of brainstem (disorder); malignant neoplasm of brainstem NOS (disorder); neoplasm of adult brain stem; neoplasm of brain stem (disorder); primary brain Stem tumor; tumor of the Brainstem; malignant tumor of Brainstem; tumor of adult Brainstem; malignant neoplasm of brain stem; neoplasm of brain stem; primary brain stem neoplasm; [-]	n_a
brain stem ependymoma	Ependymoma of the Brainstem;	A high grade ependymoma that is characterized by a..[+] A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. [-]
brain stem glioma	Brainstem Neuroglial tumor;	A brain stem cancer that is characterized by mass ..[+] A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. [-]
brain stem infarction	brain stem infarction (disorder); Brainstem infarc.. [+] brain stem infarction (disorder); Brainstem infarction; Brainstem infarction NOS; Brainstem infarction NOS (disorder); [-]	A brain infarction that is characterized by stroke..[+] A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal. [-]
brain stem medulloblastoma		A brain stem cancer that begins in the lower part ..[+] A brain stem cancer that begins in the lower part of the brain on the floor of the skull. [-]
brainstem intraparenchymal clear cell meningioma	Intraparenchymal Clear cell meningioma of the Brai.. [+] Intraparenchymal Clear cell meningioma of the Brainstem; [-]	n_a
branch retinal artery occlusion	Arterial retinal branch occlusion (disorder); Reti.. [+] Arterial retinal branch occlusion (disorder); Retinal Arterial Branch Occlusion; Retinal arterial branch occlusion; Arterial retinal branch occlusion; retinal arterial branch occlusion; [-]	n_a
branched-chain keto acid dehydrogenase kinase deficiency	autism-epilepsy syndrome due to branched chain ket.. [+] autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency; BCKDKD; [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. [-]
branchiooculofacial syndrome		A syndrome that is characterized by low birth weig..[+] A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. [-]	1 articles
branchiootic syndrome	BO syndrome; BOR; branchiootic dysplasia;	A syndrome characterized by malformations of the o..[+] A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. [-]	4 articles	26 matches
branchiootorenal syndrome	branchiootorenal dysplasia; Melnick-Fraser syndrom.. [+] branchiootorenal dysplasia; Melnick-Fraser syndrome (disorder); Melnick-Fraser syndrome; Branchio-otorenal dysplasia; Branchio-Oto-renal syndrome; [-]	A syndrome characterized by branchial arch anomali..[+] A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. [-]	12 articles	35 matches
branchiootorenal syndrome 1	BOR1;	A branchiootorenal syndrome that has_material_basi..[+] A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. [-]
branchiootorenal syndrome 2	BOR2;	A branchiootorenal syndrome that has_material_basi..[+] A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. [-]
brawny scleritis		An anterior scleritis that is characterized by pai..[+] An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. [-]
breast abscess		A breast disease characterized by a collection of ..[+] A breast disease characterized by a collection of pus in the breast. [-]

???pagination.result.page??? ???pagination.result.prev??? 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 ???pagination.result.next???