Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Leber congenital amaurosis 7 |
LCA7
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A Leber congenital amaurosis that has_material_bas..[+]
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late-adult onset retinitis pigmentosa |
senile retinitis pigmentosa
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A retinitis pigmentosa that is characterized by on..[+]
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long QT syndrome 1 |
LQT1; ventricular fibrillation with prolonged QT i..
[+]
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A long QT syndrome that has_material_basis_in domi..[+]
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8 articles | |
long QT syndrome 2 |
LQT2
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A long QT syndrome that has_material_basis_in domi..[+]
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4 articles | |
long QT syndrome 3 |
LQT3
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A long QT syndrome that has_material_basis_in domi..[+]
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2 articles | |
long QT syndrome 5 |
LQT5
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A long QT syndrome that has_material_basis_in domi..[+]
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2 articles | |
long QT syndrome 6 |
LQT6
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A long QT interval syndrome that has_material_basi..[+]
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long QT syndrome 8 |
LQT8
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A long QT syndrome characterized by a prolonged QT..[+]
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long QT syndrome 9 |
LQT9
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A long QT syndrome that has_material_basis_in muta..[+]
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long QT syndrome 10 |
LQT10
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A long QT syndrome that has_material_basis_in domi..[+]
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long QT syndrome 11 |
LQT11
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A long QT syndrome that has_material_basis_in domi..[+]
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long QT syndrome 12 |
LQT12
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A long QT syndrome that has_material_basis_in domi..[+]
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long QT syndrome 13 |
LQT13
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A long QT syndrome that has_material_basis_in domi..[+]
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long QT syndrome 14 |
LQT14
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A long QT syndrome that has_material_basis_in domi..[+]
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long QT syndrome 15 |
LQT15
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A long QT syndrome that has_material_basis_in domi..[+]
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leukocyte adhesion deficiency 1 |
lymphocyte function-associated antigen 1 immunodef..
[+]
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A leukocyte adhesion deficiency that has_material_..[+]
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leukocyte adhesion deficiency 3 |
A leukocyte adhesion deficiency that is characteri..[+]
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lateral meningocele syndrome |
Lehman syndrome
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A syndrome characterized by facial anomalies, hype..[+]
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Laurin-Sandrow syndrome |
miccor hands and feet with nasal defects; MIPdupli..
[+]
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A dysostosis characterized by polysyndactyly of ha..[+]
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large congenital melanocytic nevus |
LCMN; Congenital pigmented nevus; Giant congenital..
[+]
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A skin disease characterized by the presence at bi..[+]
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Li-Fraumeni syndrome 1 |
LFS1
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A Li-Fraumeni syndrome that has_material_basis_in ..[+]
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Li-Fraumeni syndrome 2 |
LFS2
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A Li-Fraumeni syndrome that has_material_basis_in ..[+]
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Lenz-Majewski hyperostotic dwarfism |
Lenz-Majewski syndrome
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A syndrome characterized by intellectual disabilit..[+]
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lymphedema-distichiasis syndrome |
LPHDST; lymphedema with distichiasis
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A syndrome characterized by lymphedema of the limb..[+]
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linear nevus sebaceous syndrome |
Jadassohn nevus phakomatosis; Nevus sebaceus of Ja..
[+]
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A syndrome characterized by sebaceous nevi typical..[+]
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long QT syndrome 4 |
LQT4
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A long QT syndrome that has_material_basis_in hete..[+]
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loose anagen hair syndrome |
loose anagen syndrome
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An alopecia characterized by anagen phase (activel..[+]
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Leber plus disease |
LHON plus disease
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A syndrome characterized by Leber's hereditary opt..[+]
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Leber hereditary optic neuropathy and dystonia |
A Leber plus disease characterized by Leber heredi..[+]
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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..[+]
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linear skin defects with multiple congenital anomalies 1 |
MCOPS7; microphthalmia-dermal aplasia-sclerocornea..
[+]
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A syndromic microphthalmia characterized by unilat..[+]
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low molecular weight proteinuria with hypercalciuric nephrocalcinosis |
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A Dent disease characterized by elevated levels of..[+]
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linear skin defects with multiple congenital anomalies 3 |
A linear skin defects with multiple congenital ano..[+]
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linear skin defects with multiple congenital anomalies 2 |
LSDMCA2; aplasia cutis congenita, reticulolinear, ..
[+]
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A linear skin defects with multiple congenital ano..[+]
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lissencephaly 9 with complex brainstem malformation |
LIS9; posterior-predominant lissencephaly-broad fl..
[+]
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A lissencephaly characterized by global developmen..[+]
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lissencephaly 10 |
LIS10
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A lissencephaly characterized by variably delayed ..[+]
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lissencephaly 5 |
LIS5
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A lissencephaly characterized by hydrocephalus, se..[+]
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lissencephaly 7 with cerebellar hypoplasia |
LIS7
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A lissencephaly characterized by lack of psychomot..[+]
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lissencephaly 3 |
LIS3
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A lissencephaly characterized by brain malformatio..[+]
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lissencephaly 8 |
LIS8
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A lissencephaly characterized by delayed psychomot..[+]
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lissencephaly 4 |
lissencephaly 4 with microcephaly; LIS4
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A microlissencephaly characterized by lissencephal..[+]
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lissencephaly 6 |
LIS6
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A microlissencephaly characterized by severe micro..[+]
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lissencephaly 1 |
LIS1; PAFAH1B1-related lissencephaly
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A lissencephaly characterized by an abnormally thi..[+]
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Leber congenital amaurosis with early-onset deafness |
LCAEOD
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A sensory system disease characterized by early-on..[+]
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Leydig cell hypoplasia |
46,XY disorder of sex development due to LH resist..
[+]
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A pseudohermaphroditism that has_material_basis_in..[+]
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Leydig cell hypoplasia type I |
Leydig cell hypoplasia due to complete luteinizing..
[+]
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A Leydig cell hypoplasia characterized by 46,XY ma..[+]
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Leydig cell hypoplasia type II |
Leydig cell hypoplasia due to partial luteinizing ..
[+]
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A Leydig cell hypoplasia characterized by variable..[+]
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leucine-sensitive hypoglycemia of infancy |
LIH; leucine-induced hypoglycemia
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An amino acid metabolic disorder characterized by ..[+]
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degenerative disc disease |
lumbar disc degeneration; cervical disc degenerati..
[+]
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A bone deterioration disease that has_material_bas..[+]
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vagina leiomyoma |
leiomyoma of vagina
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A vaginal benign neoplasm that is a benign tumor o..[+]
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