| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Leydig cell hypoplasia
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46,XY disorder of sex development due to LH resist..
[+]46,XY disorder of sex development due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,XY DSD due to LH resistance or LHB deficiency; 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency;
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A pseudohermaphroditism that has_material_basis_in.. [+]A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
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Leydig cell hypoplasia type I
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46,XY disorder of sex development due to complete ..
[+]46,XY disorder of sex development due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH resistance; 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation; 46,XY disorder of sex development due to complete luteinizing hormone resistance; 46,XY DSD due to complete LH receptor inactivation; 46,XY DSD due to complete LH resistance; 46,XY DSD due to complete luteinizing hormone receptor inactivation; 46,XY DSD due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete LH receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone resistance;
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A Leydig cell hypoplasia characterized by 46,XY ma.. [+]A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.
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Leydig cell hypoplasia type II
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46,XY disorder of sex developement due to partial ..
[+]46,XY disorder of sex developement due to partial LH receptor inactivation; 46,XY disorder of sex developement due to partial LH resistance; 46,XY disorder of sex developement due to partial luteinizing hormone resistance; 46,XY DSD due to partial LH receptor inactivation; 46,XY DSD due to partial LH resistance; 46,XY DSD due to partial luteinizing hormone resistance; Leydig cell hypoplasia due to partial LH receptor inactivation; Leydig cell hypoplasia due to partial LH resistance; Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to partial luteinizing hormone resistance;
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A Leydig cell hypoplasia characterized by variable.. [+]A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.
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Leydig cell tumor
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Leydig cell neoplasm;
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A sex cord-gonadal stromal tumor that secretes tes.. [+]A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
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Li-Fraumeni syndrome
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sarcoma, breast, leukaemia and adrenal gland syndr..
[+]sarcoma, breast, leukaemia and adrenal gland syndrome; SBLA syndrome; Li-Fraumeni Familiar cancer Susceptibility syndrome; LFS;
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A syndrome characterized by autosomal dominant inh.. [+]A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
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1 articles
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Li-Fraumeni syndrome 1
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LFS1;
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A Li-Fraumeni syndrome that has_material_basis_in .. [+]A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.
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Li-Fraumeni syndrome 2
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LFS2;
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A Li-Fraumeni syndrome that has_material_basis_in .. [+]A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.
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Libman-Sacks endocarditis
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Libmann–Sachs, Endocarditis in systemic lupus eryt..
[+]Libmann–Sachs, Endocarditis in systemic lupus erythematosus;
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An endocarditis that is characterized by Libman-Sa.. [+]An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.
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Liddle syndrome
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Pseudoaldosteronism; Liddle's syndrome;
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A renal tubular transport disease that is characte.. [+]A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
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4 articles
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Lisch epithelial corneal dystrophy
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LECD; band-shaped and whorled microcystic ;
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An epithelial and subepithelial dystrophy that is .. [+]An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.
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Listeria meningitis
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A bacterial meningitis that has_material_basis_in .. [+]A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection.
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Littre gland carcinoma
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A male reproductive organ cancer that has_material.. [+]A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands.
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Loeffler endocarditis
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Eosinophilic Endomyocardial disease;
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A restrictive cardiomyopathy that affects the endo.. [+]A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
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Loeffler syndrome
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Loffler's syndrome; Loeffler's pneumonia ;
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An eosinophilic pneumonia described as a form of p.. [+]An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.
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Loeys-Dietz syndrome
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A syndrome that is characterized by increased risk.. [+]A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
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1 articles
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Lown-Ganong-Levine syndrome
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atrial tachyarrhythmia with short PR interval; syn..
[+]atrial tachyarrhythmia with short PR interval; syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias;
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A syndrome that involves pre-excitation of the ven.. [+]A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
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Ludwig's angina
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cellulitis of floor of mouth; Ludwig angina;
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n_a
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Luo-Schoch-Yamamoto syndrome
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LUSYAM;
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A autosomal dominant intellectual developmental di.. [+]A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.
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Lutembacher's syndrome
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Lutembacher's anomaly; Lutembacher syndrome;
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n_a
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Lyme disease
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Bannwarth syndrome (disorder); Bannworth's syndrom..
[+]Bannwarth syndrome (disorder); Bannworth's syndrome; Lyme borreliosis; lyme neuroborreliosis; Neurological Lyme disease; neuroborreliosis; Bannwarth syndrome;
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
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1 articles
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Lynch syndrome
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Hereditary Defective Mismatch Repair syndrome; her..
[+]Hereditary Defective Mismatch Repair syndrome; hereditary nonpolyposis colorectal cancer; HNPCC - hereditary nonpolyposis colon cancer; hereditary non-polyposis colon cancer type 1; COCA 1; hereditary nonpolyposis colorectal neoplasm; Hereditary non-polyposis colon cancer; Hereditary non-polyposis colon cancer syndrome; Hereditary non-polyposis colorectal cancer; Hereditary non-polyposis colorectal cancer syndrome; Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colon cancer syndrome; Hereditary nonpolyposis colorectal cancer syndrome;
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A syndrome that is characterized by an increased r.. [+]A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
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MASA syndrome
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hereditary spastic paraplegia 1; L1 syndrome; SPG1..
[+]hereditary spastic paraplegia 1; L1 syndrome; 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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MCD diffuse large B-cell lymphoma
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MCD DLBCL;
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A diffuse large B-cell lymphoma that is categorize.. [+]A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
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MEDNIK syndrome
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erythrokeratodermia variabilis 3; mental retardati..
[+]erythrokeratodermia variabilis 3; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; erythrokeratodermia variabilis, Kamouraska type;
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A syndrome characterized by mental retardation, en.. [+]A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
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MEHMO syndrome
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mental retardation, epileptic seizures, hypogonadi..
[+]mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MRXS20; MRXS25; syndromic X-linked mental retardation 25; syndromic X-linked mental retardation 20; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome;
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1.
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MELAS syndrome
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MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACI..
[+]MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;
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A mitochondrial encephalomyopathy that is characte.. [+]A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
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2 articles
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MEND syndrome
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male EBP disorder with neurological defects;
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A lipid metabolism disorder characterized by a def.. [+]A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.
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MERRF syndrome
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Fukuhara syndrome (disorder); Myoclonic epilepsy -..
[+]Fukuhara syndrome (disorder); Myoclonic epilepsy - ragged red fibers (disorder); Myoclonus epilepsy AND ragged red fibers (disorder); Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome); Fukuhara syndrome; Myoclonus epilepsy AND ragged red fibers; Myoclonic epilepsy - ragged red fibers; Myoclonus with epilepsy and with Ragged Red Fibers;
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n_a
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1 articles
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MHC class I deficiency
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bare lymphocyte syndrome type I; BLS, TYPE I; BLSI..
[+]bare lymphocyte syndrome type I; BLS, TYPE I; BLSI; HLA CLASS I DEFICIENCY;
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n_a
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MHC class II deficiency
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bare lymphocyte syndrome type II; SCID due to abse..
[+]bare lymphocyte syndrome type II; SCID due to absent class II HLA antigens (disorder); BLSII; SCID due to absent class II HLA antigens;
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A severe combined immunodeficiency that is charact.. [+]A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
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MLS syndrome
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linear skin defects with multiple congenital anoma..
[+]linear skin defects with multiple congenital anomalies;
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A syndrome characterized by linear skin defects an.. [+]A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.
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MYH-9 related disease
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A blood platelet disease that has_material_basis_i.. [+]A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
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Machado-Joseph disease
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Azorean disease; MJD; spinocerebellar ataxia 3; sp..
[+]Azorean disease; MJD; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; SCA3;
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An autosomal dominant cerebellar ataxia that is ch.. [+]An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
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Maffucci syndrome
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A syndrome characterized by the presence of multip.. [+]A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
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Mahvash Disease
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GCGR-related hyperglucagonemia; nesidioblastosis, ..
[+]GCGR-related hyperglucagonemia; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor;
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An endocrine pancreas disease characterized by pan.. [+]An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3.
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Marburg hemorrhagic fever
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Marburg virus disease; Marburg disease;
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A viral infectious disease that is a hemorrhagic f.. [+]A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
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Marfan syndrome
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Marfan's syndrome;
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A connective tissue disease that is characterized .. [+]A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
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3 articles
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Marinesco-Sjogren syndrome
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Garland-Moorhouse syndrome; Marinesco-Garland synd..
[+]Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration; Oligophrenic cerebellolenticular degeneration;
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A syndrome characterized by congenital cataracts, .. [+]A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
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Marshall syndrome
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deafness, myopia, cataract, saddle nose-Marshall t..
[+]deafness, myopia, cataract, saddle nose-Marshall type; MRSHS;
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An ectodermal dysplasia characterized by hypoplasi.. [+]An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
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Marshall-Smith syndrome
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A syndrome that is characterized by advanced bone .. [+]A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
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Marsili syndrome
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congenital analgesia; congenital insensitivity to ..
[+]congenital analgesia; congenital insensitivity to pain;
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A syndrome that is characterized by a lowered abil.. [+]A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
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Martsolf syndrome
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cataract-intellectual disability-hypogonadism synd..
[+]cataract-intellectual disability-hypogonadism syndrome;
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A syndrome characterized by intellectual deficit, .. [+]A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
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Mast syndrome
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autosomal recessive spastic paraplegia 21; heredit..
[+]autosomal recessive spastic paraplegia 21; hereditary spastic paraplegia 21; SPG21; autosomal recessive spastic paraplegia type 21;
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A hereditary spastic paraplegia associated with de.. [+]A hereditary spastic paraplegia associated with dementia.
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Masters-Allen syndrome
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Broad ligament laceration syndrome;
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A female reproductive system disease that is chara.. [+]A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery.
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Mayer-Rokitansky-Kuster-Hauser syndrome
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MRKH syndrome; Rokitansky syndrome;
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A syndrome characterized by aplasia of the uterus .. [+]A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype.
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Mayer-Rokitansky-Kuster-Hauser syndrome type 1
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congenital absence of uterus and vagina; MRKH synd..
[+]congenital absence of uterus and vagina; MRKH syndrome type 1; Rokitansky sequence;
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte.. [+]A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
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Mayer-Rokitansky-Kuster-Hauser syndrome type 2
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atypical MRKH syndrome; MRKH syndrome type 2; mull..
[+]atypical MRKH syndrome; MRKH syndrome type 2; mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; MURCS; MURCS association;
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte.. [+]A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
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McCune Albright syndrome
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fibrous Dysplasia of bone; fibrous dysplasia of bo..
[+]fibrous Dysplasia of bone; fibrous dysplasia of bone (disorder); osteitis fibrosa disseminata; fibrous dysplasia of bone; polyostotic fibrous dysplasia;
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A syndrome that is characterized by polyostotic fi.. [+]A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
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McKusick-Kaufman syndrome
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HMCS; hydrometrocolpos, postaxial polydactyly, and..
[+]HMCS; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos syndrome; MKKS; Kaufman McKusick syndrome;
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A syndrome characterized by neonatal onset of geni.. [+]A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
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McLeod syndrome
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McLeod syndrome with or without chronic granulomat..
[+]McLeod syndrome with or without chronic granulomatous disease; McLeod type neuroacanthocytosis; X-linked McLeod syndrome; MLS; McLeod neuroacanthocytosis syndrome;
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A neuroacanthocytosis characterized by absence of .. [+]A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
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