| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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tracheal lymphoma
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lymphoma of the trachea; Lymphoma of Trachea
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n_a
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ulnar nerve lesion
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Lesion of ulnar nerve
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n_a
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radial nerve lesion
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Lesion of radial nerve; Lesion of radial nerve, NO..
[+]
Lesion of radial nerve; Lesion of radial nerve, NOS; Radial nerve lesion NOS (disorder); Radial nerve lesions (disorder); Radial nerve lesions; Radial nerve lesion
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n_a
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filarial elephantiasis
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Lymphatic filariasis; Lymphatic filariasis (disord..
[+]
Lymphatic filariasis; Lymphatic filariasis (disorder); Bancroftian elephantiasis (disorder); Bancroftian filarial chyluria; elephantiasis of eyelid; Elephantiasis of eyelid (disorder); Bancroftian elephantiasis; Elephantiasis of eyelid
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A filariasis that is characterized by the thickeni.. [+]A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.
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testicular lymphoma
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lymphoma of the testis; malignant lymphoma of test..
[+]
lymphoma of the testis; malignant lymphoma of testis (disorder); testicular Lymphoma; malignant lymphoma of testis
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n_a
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osteogenesis imperfecta
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Lobstein's syndrome; Osteopsathyrosis; Vrolik's di..
[+]
Lobstein's syndrome; Osteopsathyrosis; Vrolik's disease; brittle bone disease; Fragilitas ossium
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An osteochondrodysplasia that has_material_basis_i.. [+]An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
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2 articles
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bronchopneumonia
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lobular pneumonia; Chest infection - unspecified b..
[+]
lobular pneumonia; Chest infection - unspecified bronchopneumonia; bronchial pneumonia; Chest infection - bronchopneumonia
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A pneumonia involving inflammation of lungs that b.. [+]A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
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plantar nerve lesion
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Lesion of plantar nerve; Lesion of plantar nerve, ..
[+]
Lesion of plantar nerve; Lesion of plantar nerve, NOS; Plantar nerve lesion (disorder); Plantar nerve lesion NOS (disorder); Plantar nerve lesion
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n_a
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ataxia telangiectasia
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Louis Bar syndrome; Boder-Sedgwick syndrome
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An autosomal recessive cerebellar ataxia that is c.. [+]An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
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1 articles
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mucopolysaccharidosis I
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Lipochondrodystrophy; Hurler-Scheie syndrome; idur..
[+]
Lipochondrodystrophy; Hurler-Scheie syndrome; iduronidase deficiency disease; Mucopolysaccharidosis, MPS-I (disorder); Mucopolysaccharidosis, type 1; Hurler syndrome; MPS I - Hurler syndrome; Mucopolysaccharidosis, MPS-I
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
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central nervous system leukemia
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Leukemia of the CNS
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A hematologic cancer located_in the central nervou.. [+]A hematologic cancer located_in the central nervous system.
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intrapelvic lymph node leukemic reticuloendotheliosis
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Leukemic reticuloendotheliosis of intrapelvic lymp..
[+]
Leukemic reticuloendotheliosis of intrapelvic lymph nodes; Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder); Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder); Leukemic reticuloendotheliosis involving intrapelvic lymph nodes
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n_a
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bladder leiomyoma
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leiomyoma of the urinary bladder
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A bladder benign neoplasm that derives_from smooth.. [+]A bladder benign neoplasm that derives_from smooth muscle cells.
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uterine fibroid
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leiomyoma of Corpus Uteri; Plexiform leiomyoma; ut..
[+]
leiomyoma of Corpus Uteri; Plexiform leiomyoma; uterine leiomyoma; UTERUS FIBROMA
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An uterine benign neoplasm derived from the smooth.. [+]An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
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pulmonary sarcoidosis
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lung Sarcoidosis
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A sarcoidosis that is characterized by noncaseatin.. [+]A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.
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spinal cord lipoma
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Lipoma of spinal cord; Lipoma of spinal cord (diso..
[+]
Lipoma of spinal cord; Lipoma of spinal cord (disorder)
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A central nervous system lipoma that is characteri.. [+]A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord.
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hypoactive sexual desire disorder
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Lack or loss of sexual desire
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n_a
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alcoholic liver cirrhosis
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Laennec's cirrhosis, alcoholic; Laennec's cirrhosi..
[+]
Laennec's cirrhosis, alcoholic; Laennec's cirrhosis; Alcoholic Cirrhosis; Portal cirrhosis; Alcoholic cirrhosis of liver
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n_a
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autoimmune polyendocrine syndrome
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Lloyd's syndrome; Autoimmune polyglandular failure..
[+]
Lloyd's syndrome; Autoimmune polyglandular failure; autoimmune polyendocrinopathy
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An autoimmune disease of endocrine system characte.. [+]An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
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epicondylitis
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Lateral epicondylitis; andrel epicondylitis; arche..
[+]
Lateral epicondylitis; andrel epicondylitis; archer's elbow; golfer's elbow; hockey elbow; medial epicondylitis; shooter's elbow; tennis elbow
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A bone inflammation disease that results_in inflam.. [+]A bone inflammation disease that results_in inflammation located_in epicondyle.
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multiple symmetric lipomatosis
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Launois-Bensaude's lipomatosis; LIPOMATOSIS, FAMIL..
[+]
Launois-Bensaude's lipomatosis; LIPOMATOSIS, FAMILIAL BENIGN CERVICAL; LIPODYSTROPHY, CEPHALOTHORACIC; Multiple symmetric lipomatosis; cervical Symmetrical Lipomatosis; multiple symmetrical lipomatosis; Madelung's neck
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n_a
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anus lymphoma
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Lymphoma of anus
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n_a
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spinal cord lymphoma
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Lymphoma of the Spinal Cord; spinal cord cancer
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A spinal cancer that is located_in the spinal cord.. [+]A spinal cancer that is located_in the spinal cord and derives_from lymphocytes.
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Noonan syndrome with multiple lentigines
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Lentiginosis profusa syndrome; LEOPARD syndrome; G..
[+]
LEOPARD syndrome; Lentiginosis profusa syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Moynahan syndrome; Cardiocutaneous syndrome; Multiple lentigines syndrome (disorder); Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Noonan syndrome with multiple lentigines; Generalized lentiginosis; Progressive cardiomyopathic lentiginosis; Multiple lentigines syndrome
[-]
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A RASopathy that is characterized by autosomal dom.. [+]A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
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1 articles
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ureteral lymphoma
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lymphoma of ureter; ureteral Lymphoma
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n_a
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Niemann-Pick disease
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lipoid histiocytosis; lipoid histiocytosis (classi..
[+]
lipoid histiocytosis; lipoid histiocytosis (classical phosphatide); Niemann-Pick disease type A; Niemann-Pick disease type B; Niemann-Pick disease type C; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, subacute juvenile form; sphingomyelin lipidosis; Sphingomyelinase Deficiency Disease; Type A Niemann-Pick Disease
[-]
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A sphingoliidosis characterized by the accumulatio.. [+]A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
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spondyloepiphyseal dysplasia congenita
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Late Spondyloepiphyseal Dysplasia; SPONDYLOEPIPHYS..
[+]
Late Spondyloepiphyseal Dysplasia; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
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A spondyloepiphyseal dysplasia characterized by di.. [+]A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
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phenobarbital allergy
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Luminal allergy; phenobarbitol allergy; phenobarbi..
[+]
Luminal allergy; phenobarbitol allergy; phenobarbitone allergy
[-]
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A drug allergy that has_allergic_trigger phenobarb.. [+]A drug allergy that has_allergic_trigger phenobarbital.
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Andersen-Tawil syndrome
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Long QT syndrome 7; LQT7; ANDERSEN CARDIODYSRHYTHM..
[+]
LQT7; Long QT syndrome 7; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS; Andersen syndrome; Potassium-Sensitive Cardiodysrhythmic Type
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A long QT syndrome that has_material_basis_in auto.. [+]A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
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6 articles
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Donohue syndrome
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Leprechaunism
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A syndrome that is characterized by protuberant an.. [+]A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
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Carney complex
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LAMB Syndrome; Carney Complex, Type 2; Carney Synd..
[+]
LAMB Syndrome; Carney Complex, Type 2; Carney Syndrome; NAME Syndrome; Carney Complex, Type 1; Carney complex variant
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A syndrome characterized by myxomas, spotty pigmen.. [+]A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
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Senior-Loken syndrome
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Loken Senior syndrome; renal-retinal syndrome
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A syndrome characterized by progressive wasting of.. [+]A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
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1 articles
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cranioectodermal dysplasia
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Levin syndrome; cranioectodermal dysplasia; Sensen..
[+]
Levin syndrome; cranioectodermal dysplasia; Sensenbrenner syndrome
[-]
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A syndrome that is characterized by characterized .. [+]A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
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1 articles
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Finnish type amyloidosis
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Lattice corneal dystrophy type II; AMYLOIDOSIS, ME..
[+]
Lattice corneal dystrophy type II; AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gelsolin amyloidosis
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An amyloidosis that is characterized by abnormal d.. [+]An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa.
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Arts syndrome
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Lethal ataxia with deafness and optic atrophy; ART..
[+]
Lethal ataxia with deafness and optic atrophy; ARTS; fatal X-linked ataxia with deafness and loss of vision; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; MRXS18
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An X-linked disease that is characterized by profo.. [+]An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
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T-cell large granular lymphocyte leukemia
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Large granular lymphocytic leukaemia; Large granul..
[+]
Large granular lymphocytic leukaemia; Large granular lymphocytic leukemia; T-cell large granular lymphocyte leukaemia
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A T-cell acute lymphocytic leukemia that exhibits .. [+]A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
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choreaacanthocytosis
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Levine-Critchley syndrome; choreoacanthocytosis; c..
[+]
Levine-Critchley syndrome; choreoacanthocytosis; choreo-acanthocytosis
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A neuroacanthocytosis characterized by progressive.. [+]A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
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congenital adrenal hyperplasia
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lipoid CAH; adrenal hyperplasia 1; congenital lipo..
[+]
lipoid CAH; adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia
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A steroid inherited metabolic disorder that is cha.. [+]A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
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spasmodic dystonia
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laryngeal dystonia
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A focal dystonia that involves the muscles that co.. [+]A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
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medulloblastoma
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localized primitive neuroectodermal tumor; CNS PNE..
[+]
localized primitive neuroectodermal tumor; CNS PNET; infratentorial primitive neuroectodermal tumor; brain medulloblastoma; CPNET; Medulloblastoma, histologically defined
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An infratentorial cancer that is located_in the lo.. [+]An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
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1 articles
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6 matches
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DNA ligase IV deficiency
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LIG4 Syndrome
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A combined T cell and B cell immunodeficiency that.. [+]A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
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brain glioma
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lower grade glioma
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A brain cancer that has_material_basis_in glial ce.. [+]A brain cancer that has_material_basis_in glial cells.
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1 articles
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carnitine palmitoyltransferase II deficiency
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late-onset carnitine palmitoyltransferase II defic..
[+]
late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal carnitine palmitoyltransferase II deficiency; CPT-II; infantile carnitine palmitoyltransferase II deficiency
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A lipid metabolism disorder characterized by an en.. [+]A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
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Van der Woude syndrome
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lip-pit syndrome
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A syndrome characterized by the combination of low.. [+]A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
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1 articles
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3-M syndrome
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Le Merrer syndrome; gloomy face syndrome; three M ..
[+]
Le Merrer syndrome; gloomy face syndrome; three M syndrome; Yakut short stature syndrome; Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia
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A syndrome characterized by dwarfism, facial dysmo.. [+]A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
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MASA syndrome
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L1 syndrome; hereditary spastic paraplegia 1; SPG1..
[+]
L1 syndrome; hereditary spastic paraplegia 1; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked spastic paraplegia 1; Gareis-Mason syndrome; X-linked corpus callosum agenesis; CRASH syndrome
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A hereditary spastic paraplegia that is characteri.. [+]A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
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microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
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lymphedema, microcephaly and chorioretinopathy syn..
[+]
lymphedema, microcephaly and chorioretinopathy syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; chorioretinal dysplasia-microcephaly-mental retardation syndrome; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome
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A syndrome characterized by variable expression of.. [+]A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
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Hennekam syndrome
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lymphedem-lymphangiectasia-intellectual disability..
[+]
lymphedem-lymphangiectasia-intellectual disability syndrome; Hennekam lymphangiectasia-lymphedema syndrome
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A lymphatic system disease characterized by he pre.. [+]A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
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white shrimp allergy
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Litopenaeus vannamei allergy
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A crustacean allergy triggered by Litopenaeus vann.. [+]A crustacean allergy triggered by Litopenaeus vannamei.
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microcephalic osteodysplastic primordial dwarfism type I
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low-birth-weight dwarfism with skeletal dysplasia; ..
[+]
low-birth-weight dwarfism with skeletal dysplasia; brachymelic primordial dwarfism; cephaloskeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome
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A microcephalic osteodysplastic primordial dwarfis.. [+]A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
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1 articles
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