| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Brugada syndrome 9
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BRGDA9
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A Brugada syndrome that has_material_basis_in hete.. [+]A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13.
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brachydactyly-preaxial hallux varus syndrome
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Christian brachydactyly; preaxial brachydactyly wi..
[+]Christian brachydactyly; preaxial brachydactyly with hallux varus and thumb abduction
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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.
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Ballard syndrome
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brachydactyly types B and E combined; Ballard type..
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brachydactyly types B and E combined; Ballard type brachydactyly; Pitt-Williams brachydactyly
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A brachydactyly characterized by autosomal dominan.. [+]A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature.
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brachydactyly type A1
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BDA1; Farabee type brachydactyly
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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.
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brachydactyly type A2
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BDA2; brachymesophalangy II; Mohr-Wriedt type brac..
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brachymesophalangy II; BDA2; Mohr-Wriedt type brachydactyly
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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.
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brachydactyly type A3
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brachydactyly-clinodactyly; brachymesophalangy V; ..
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brachymesophalangy V; brachydactyly-clinodactyly; BDA3
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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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brachydactyly type A4
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BDA4; brachymesophalangy II and V; Temtamy type br..
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brachymesophalangy II and V; BDA4; Temtamy type brachydactyly
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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.
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brachydactyly type A6
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BDA6; brachymesophalangy with mesomelic short limb..
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BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; Osebold-Remondini syndrome
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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.
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brachydactyly type B1
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BDB1
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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.
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brachydactyly type C
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BDC
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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.
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brachydactyly type D
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BDD
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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.
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brachydactyly type E1
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BDE1
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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.
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1 articles
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brachydactyly type A1B
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BDA1B
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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.
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brachydactyly type B2
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BDB2
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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.
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brachydactyly type E2
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BDE2
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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.
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brachydactyly type A1C
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BDA1C
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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.
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brachydactyly type A1D
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BDA1D
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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.
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Bernard-Soulier syndrome type A2
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BSSA2
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A Bernard-Soulier syndrome characterized by autoso.. [+]A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
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birdshot chorioretinopathy
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birdshot retinochoroidopathy; BSCR; birdshot retin..
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BSCR; birdshot retinochoroidopathy; birdshot retinochoroiditis; birdshot chorioretinitis; vitiliginous choroiditis
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A posterior uveitis characterized by multiple smal.. [+]A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.
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Boucher-Neuhauser syndrome
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ataxia-hypogonadism-choroidal dystrophy syndrome
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A syndrome characterized by spinocerebellar ataxia.. [+]A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
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benign familial hematuria
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BFH; thin basement membrane nephropathy; thin memb..
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BFH; thin basement membrane nephropathy; thin membrane nephropathy; TMN
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A urinary system disease characterized by the pres.. [+]A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3.
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Beukes hip dysplasia
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BFHD; Beukes familial hip dysplasia; Beukes type h..
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Beukes familial hip dysplasia; BFHD; Beukes type hip dysplasia; Cilliers-Beighton syndrome; Premature degenerative osteoarthropathy of the hip
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An osteochondrodysplasia that is characterized by .. [+]An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.
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branchiootorenal syndrome 1
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BOR1
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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.
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branchiootorenal syndrome 2
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BOR2
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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.
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bilateral optic nerve hypoplasia
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familial bilateral optic nerve hypoplasia; isolate..
[+]familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia; ONH
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An optic nerve disease characterized by isolated o.. [+]An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.
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Buschke-Ollendorff syndrome
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BOS; dermatoosteopoikilosis; dermatofibrosis lenti..
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BOS; dermatoosteopoikilosis; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata
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A syndrome characterized by multiple subcutaneous .. [+]A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.
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Behr syndrome
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BEHRS; Abortive cerebellar ataxia (BEHRS); optic a..
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BEHRS; Abortive cerebellar ataxia (BEHRS); optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of
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A nervous system disease characterized by early-on.. [+]A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
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Bothnian type palmoplantar keratoderma
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diffuse palmoplantar keratoderma, Bothnian type; P..
[+]diffuse palmoplantar keratoderma, Bothnian type; PPKB
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A nonepidermolytic palmoplantar keratoderma charac.. [+]A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.
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Basilicata-Akhtar syndrome
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MRXS36; X-linked syndromic mental retardation Basi..
[+]MRXS36; X-linked syndromic mental retardation Basilicata-Akhtar type; X-linked syndromic mental retardation 36
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.
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B cell and dendritic cell deficiency
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A combined immunodeficiency characterized by impai.. [+]A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells.
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BH4-deficient hyperphenylalaninemia B
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GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahyd..
[+]GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla.. [+]A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2.
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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BBSOAS; optic atrophy-intellectual disability synd..
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BBSOAS; optic atrophy-intellectual disability syndrome
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A syndrome characterized by delayed development, m.. [+]A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.
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brain small vessel disease
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A brain disease characterized by abnormalities in .. [+]A brain disease characterized by abnormalities in the small blood vessels in the brain.
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brain small vessel disease 2
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BSVD2; porencephaly 2
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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.
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brain small vessel disease 3
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BSVD3
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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.
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hematopoietic system disease
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Blood dyscrasia; Blood disease; blood disorder; Bl..
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blood disorder; Blood disease; Blood dyscrasia; Blood dyscrasia NOS; disease of haematopoietic system; haematopoietic system disease; disease of hematopoietic system; DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS; Hematological disease
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A disease of anatomical entity that has_material_b.. [+]A disease of anatomical entity that has_material_basis_in hematopoietic cells.
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5 matches
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intestinal infectious disease
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bacterial enteritis
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An intestinal disease that involves intestinal inf.. [+]An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
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esophageal varix
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Bleeding esophageal varices; Bleeding oesophageal ..
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Bleeding esophageal varices; Bleeding oesophageal varices; Bleeding esophageal varices (disorder); esophageal varices without bleeding (disorder); esophageal varices with bleeding in disease EC (disorder); esophageal varices; esophageal varices with bleeding in disease EC; esophageal varices without bleeding; esophageal varices in disease classified elsewhere, with bleeding; esophageal varices with bleeding; esophageal varices without mention of bleeding
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n_a
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vascular cancer
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Blood vessel tumour disorder; blood vessel neoplas..
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Blood vessel tumour disorder; blood vessel neoplasm; Blood vessel tumor; Blood vessel tumors; Blood vessel tumors (morphologic abnormality); Blood vessel tumor (morphologic abnormality); Blood Vessel neoplasm; pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; malignant great vessel tumor; neoplasm of great vessel; malignant tumor of pulmonary artery; Haemangiomatous tumour; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors
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A cardiovascular cancer that is located_in blood v.. [+]A cardiovascular cancer that is located_in blood vessels.
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exostosis
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bone spur; bony outgrowth; orbital exostosis; swim..
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bony outgrowth; bone spur; orbital exostosis; swimmer's exostosis; osteophyte
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A hyperostosis that involves formation of new bone.. [+]A hyperostosis that involves formation of new bone on the surface of preexisting bone.
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hyperostosis
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bone hypertrophy; hypertrophy of bone (disorder); ..
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bone hypertrophy; hypertrophy of bone (disorder); hypertrophy of bone (morphologic abnormality); hypertrophy of bone
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A bone remodeling disease that results in an abnor.. [+]A bone remodeling disease that results in an abnormal growth of located in bone.
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epididymis adenomatoid tumor
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benign Epididymal epithelial Mesothelioma; adenoma..
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benign Epididymal epithelial Mesothelioma; adenomatoid neoplasm of the epididymis
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A male reproductive organ benign neoplasm that is .. [+]A male reproductive organ benign neoplasm that is located_in the epididymis.
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adenomatoid tumor
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benign localized epithelial Mesothelioma; benign l..
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benign localized epithelial Mesothelioma; benign localised epithelial Mesothelioma; adenomatoid tumor (morphologic abnormality); adenomatoid tumor NOS (morphologic abnormality); adenomatoid tumour
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n_a
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holocarboxylase synthetase deficiency
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Biotin-(propionyl-CoA-carboxylase) ligase deficien..
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Biotin-(propionyl-CoA-carboxylase) ligase deficiency; Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder); Multiple carboxylase deficiency - neonatal onset (disorder); Multiple carboxylase deficiency - neonatal onset
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A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
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choledochal cyst
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bile duct cyst; biliary cyst; Congenital choledoch..
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biliary cyst; bile duct cyst; Congenital choledochal cyst (disorder); Congenital choledochal cyst
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A bile duct disease characterized by cystic dilati.. [+]A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.
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mitral valve prolapse
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Barlow's syndrome; mitral leaflet syndrome; floppy..
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Barlow's syndrome; mitral leaflet syndrome; floppy mitral valve; myxomatous mitral valve prolapse; systolic click-murmur syndrome
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A mitral valve disease where one or both of the cu.. [+]A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
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chronic lymphocytic leukemia
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B-cell chronic lymphocytic leukaemia; B-cell chron..
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B-cell chronic lymphocytic leukaemia; B-cell chronic lymphoid leukemia; B-cell chronic lymphocytic leukemia; chronic lymphatic leukaemia; chronic lymphocytic leukaemia; CLL; lymphoplasmacytic leukaemia; lymphoplasmacytic leukemia; chronic lymphatic leukemia
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A lymphocytic leukemia characterized by over produ.. [+]A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
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pertussis
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bordetella infection; WC - Whooping cough; whoopin..
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bordetella infection; WC - Whooping cough; whooping cough
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A commensal bacterial infectious disease that resu.. [+]A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
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Diamond-Blackfan anemia
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Blackfan - Diamond syndrome; chronic constitutiona..
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Blackfan - Diamond syndrome; chronic constitutional pure red cell anaemia
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A pure red-cell aplasia that is characterized by a.. [+]A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
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4 articles
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urinary schistosomiasis
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bladder Schistosomiasis; cystitis with bilharziasi..
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bladder Schistosomiasis; cystitis with bilharziasis (disorder); Schistosoma haematobium (& vesical schistosomiasis); cystitis with bilharziasis; Schistosoma haematobium; Schistosoma Hematobium Infection; Vesical schistosomiasis; Schistosoma haematobium infection; Schistosoma hematobium infectious disease; Schistosomiasis due to schistosoma haematobium; Schistosomiasis of bladder
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A schistosomiasis that involves parasitic infectio.. [+]A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
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