| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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long QT syndrome 15
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LQT15
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A long QT syndrome that has_material_basis_in domi.. [+]A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.
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leukocyte adhesion deficiency 1
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lymphocyte function-associated antigen 1 immunodef..
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lymphocyte function-associated antigen 1 immunodeficiency; LFA1 immunodeficiency; leukocyte adhesion deficiency type I; LAD1
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A leukocyte adhesion deficiency that has_material_.. [+]A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.
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leukocyte adhesion deficiency 3
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leukocyte adhesion deficiency type III; LAD1V; leu..
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LAD1V; leukocyte adhesion deficiency type III; leukocyte adhesion deficiency 1 variant; LAD3; LAD1 variant; IADD; integrin activation deficiency disease
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A leukocyte adhesion deficiency that is characteri.. [+]A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.
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lateral meningocele syndrome
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Lehman syndrome
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A syndrome characterized by facial anomalies, hype.. [+]A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.
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Laurin-Sandrow syndrome
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miccor hands and feet with nasal defects; MIPdupli..
[+]miccor hands and feet with nasal defects; MIPduplication of fibuland ulna with absence of tibia and radius; mirror hands and feets-nasal defects syndrome; mirror-image polydactyly; Sandrow syndrome; tetramelic mirror-image polydactyly; TMIP
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A dysostosis characterized by polysyndactyly of ha.. [+]A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
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large congenital melanocytic nevus
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LCMN; Congenital pigmented nevus; Giant congenital..
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LCMN; Congenital pigmented nevus; Giant congenital melanocytic nevus; Giant pigmented hairy nevus; GMN
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A skin disease characterized by the presence at bi.. [+]A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.
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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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Lenz-Majewski hyperostotic dwarfism
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Lenz-Majewski syndrome
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A syndrome characterized by intellectual disabilit.. [+]A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
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lymphedema-distichiasis syndrome
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LPHDST; lymphedema with distichiasis
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A syndrome characterized by lymphedema of the limb.. [+]A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.
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linear nevus sebaceous syndrome
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Jadassohn nevus phakomatosis; Nevus sebaceus of Ja..
[+]Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome; nevus sebaceus of Jadassohn; JNP; Schimmelpenning Feuerstein Mims syndrome; organoid nevus syndrome
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A syndrome characterized by sebaceous nevi typical.. [+]A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
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long QT syndrome 4
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LQT4
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A long QT syndrome that has_material_basis_in hete.. [+]A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26.
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loose anagen hair syndrome
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loose anagen syndrome
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An alopecia characterized by anagen phase (activel.. [+]An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age.
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Leber plus disease
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LHON plus disease
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A syndrome characterized by Leber's hereditary opt.. [+]A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.
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Leber hereditary optic neuropathy and dystonia
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Leber optic atrophy with dystonia; LDYT; Leber opt..
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LDYT; Leber optic atrophy with dystonia; Leber optic atrophy and dystonia; Marsden syndrome; familial dystonia with visual failure and striatal lucencies
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A Leber plus disease characterized by Leber heredi.. [+]A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
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Leber hereditary optic neuropathy with demyelinating disease of CNS
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A Leber plus disease characterized by Leber heredi.. [+]A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.
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linear skin defects with multiple congenital anomalies 1
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MCOPS7; microphthalmia-dermal aplasia-sclerocornea..
[+]MCOPS7; microphthalmia-dermal aplasia-sclerocornea syndrome; MIDAS syndrome; syndromic microphthalmia 7; syndromic microphthalmia type 7; MLS syndrome; Microphthalmia with linear skin defect syndrome
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A syndromic microphthalmia characterized by unilat.. [+]A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2.
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low molecular weight proteinuria with hypercalciuric nephrocalcinosis
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A Dent disease characterized by elevted levels of .. [+]A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.
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linear skin defects with multiple congenital anomalies 3
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LSDMCA3; linear skin defects with cardiomyopathy a..
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LSDMCA3; linear skin defects with cardiomyopathy and other congenital anomalies
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A linear skin defects with multiple congenital ano.. [+]A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3.
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linear skin defects with multiple congenital anomalies 2
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LSDMCA2; aplasia cutis congenita, reticulolinear, ..
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LSDMCA2; aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies; APLCC
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A linear skin defects with multiple congenital ano.. [+]A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.
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lissencephaly 9 with complex brainstem malformation
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LIS9; posterior-predominant lissencephaly-broad fl..
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LIS9; posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
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A lissencephaly characterized by global developmen.. [+]A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3.
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lissencephaly 10
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LIS10
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A lissencephaly characterized by variably delayed .. [+]A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31.
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lissencephaly 5
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LIS5
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A lissencephaly characterized by hydrocephalus, se.. [+]A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.
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lissencephaly 7 with cerebellar hypoplasia
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LIS7
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A lissencephaly characterized by lack of psychomot.. [+]A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.
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lissencephaly 3
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LIS3
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A lissencephaly characterized by brain malformatio.. [+]A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
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lissencephaly 8
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LIS8
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A lissencephaly characterized by delayed psychomot.. [+]A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
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lissencephaly 4
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lissencephaly 4 with microcephaly; LIS4
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A microlissencephaly characterized by lissencephal.. [+]A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11.
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lissencephaly 6
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LIS6
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A microlissencephaly characterized by severe micro.. [+]A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21.
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lissencephaly 1
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LIS1; PAFAH1B1-related lissencephaly
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A lissencephaly characterized by an abnormally thi.. [+]A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3.
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Leber congenital amaurosis with early-onset deafness
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LCAEOD
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A sensory system disease characterized by early-on.. [+]A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.
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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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Leydig cell hypoplasia due to complete luteinizing..
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Leydig cell hypoplasia due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete LH receptor inactivation; 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
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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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Leydig cell hypoplasia due to partial luteinizing ..
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Leydig cell hypoplasia due to partial luteinizing hormone resistance; Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to partial LH resistance; Leydig cell hypoplasia due to partial LH receptor inactivation; 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
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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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leucine-sensitive hypoglycemia of infancy
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LIH; leucine-induced hypoglycemia
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An amino acid metabolic disorder characterized by .. [+]An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.
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degenerative disc disease
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lumbar disc degeneration; cervical disc degenerati..
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lumbar disc degeneration; cervical disc degenerative disease; vertebral disc disease; intervertebral disc degeneration
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A bone deterioration disease that has_material_bas.. [+]A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
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vagina leiomyoma
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leiomyoma of vagina
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A vaginal benign neoplasm that is a benign tumor o.. [+]A vaginal benign neoplasm that is a benign tumor of smooth muscle cells.
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vascular cancer
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leiomyosarcoma of the renal Vein; Blood Vessel neo..
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leiomyosarcoma of the renal Vein; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); pulmonary artery malignant neoplasm; pulmonary vein malignant neoplasm; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor; neoplasm of great vessel
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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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trachea leiomyoma
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leiomyoma of the Trachea; neoplasm of trachea (dis..
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leiomyoma of the Trachea; neoplasm of trachea (disorder); tracheal neoplasm; Tracheal tumor; trachea neoplasm
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A respiratory system benign neoplasm that derives_.. [+]A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
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amyotrophic lateral sclerosis
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Lou Gehrig's disease; motor neuron disease, bulbar..
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Lou Gehrig's disease; motor neuron disease, bulbar; ALS
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A motor neuron disease that is characterized by mu.. [+]A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
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3 articles
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situs inversus
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Laterality sequence; Laterality sequence (disorder..
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Laterality sequence; Laterality sequence (disorder); Complete transposition (morphologic abnormality); situs inversus viscerum (disorder); Complete transposition; situs inversus viscerum
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A visceral heterotaxy that is characterized by com.. [+]A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs.
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7 articles
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36 matches
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retina lymphoma
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Lymphoma of retina (disorder); Lymphoma of retina; ..
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Lymphoma of retina; Lymphoma of retina (disorder); Retinal Lymphoma
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n_a
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biotinidase deficiency
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Late-onset multiple carboxylase deficiency; BTD de..
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Late-onset multiple carboxylase deficiency; BTD deficiency; deficiency of biotinidase (disorder); Juvenile-onset multiple carboxylase deficiency; deficiency of biotinidase
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A multiple carboxylase deficiency that involves a .. [+]A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
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fascioliasis
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Liver flukes NOS (disorder); Liver flukes; Liver f..
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Liver flukes; Liver flukes NOS (disorder); Liver flukes NOS; Fasciola hepatica infection (disorder); Infection by Fasciola (disorder); Fasciola hepatica infection; Infection by Fasciola; Sheep liver fluke infection
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
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aggressive NK-cell leukemia
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large granular Lymphocyte Leukemia, NK-cell type; ..
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large granular Lymphocyte Leukemia, NK-cell type; Aggressive NK-cell leukemia (morphologic abnormality); aggressive NK-cell leukaemia; natural killer cell leukaemia; natural killer cell leukemia
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A leukemia that is characterized by the systemic p.. [+]A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.
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chronic lymphocytic leukemia
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lymphoplasmacytic leukemia; lymphoplasmacytic leuk..
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lymphoplasmacytic leukemia; lymphoplasmacytic leukaemia; B-cell chronic lymphocytic leukemia; B-cell chronic lymphoid leukemia; B-cell chronic lymphocytic leukaemia; chronic lymphatic leukaemia; chronic lymphocytic leukaemia; CLL; 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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oculocerebrorenal syndrome
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lowe oculocerebrorenal syndrome; Lowe syndrome; oc..
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Lowe syndrome; lowe oculocerebrorenal syndrome; oculocerebrorenal syndrome of Lowe
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A syndrome that has_material_basis_in mutation in .. [+]A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
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1 articles
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Fanconi syndrome
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Lignac-Fanconi syndrome; adult Fanconi syndrome; D..
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Lignac-Fanconi syndrome; adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia
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A renal tubular transport disease of the proximal .. [+]A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
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2 articles
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esophagus lymphoma
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Lymphoma of oesophagus; Lymphoma of esophagus; oes..
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Lymphoma of esophagus; Lymphoma of oesophagus; oesophagus lymphoma
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n_a
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gingival recession
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localized gingival recession; localized gingival r..
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localized gingival recession; localized gingival recession (disorder); Gingival recession (disorder); Gingival recession NOS (disorder); Gingival recession, localized; Gingival recession, unspecified; minimal gingival recession; moderate gingival recession; severe gingival recession; Gingival recession
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n_a
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paranasal sinus lymphoma
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Lymphoma of Accessory sinus; lymphoma of paranasal..
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Lymphoma of Accessory sinus; lymphoma of paranasal sinus
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n_a
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