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immunodeficiency 61
|
DOID_0111999 |
[A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.] |
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immunodeficiency 51
|
DOID_0111996 |
[A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.] |
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congenital myasthenic syndrome 3B
|
DOID_0110665 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.] |
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congenital myasthenic syndrome 3A
|
DOID_0110666 |
[A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.] |
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immunodeficiency 63
|
DOID_0111997 |
[A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.] |
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immunodeficiency 45
|
DOID_0111994 |
[A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11.] |
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congenital myasthenic syndrome 1A
|
DOID_0110663 |
[A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.] |
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congenital myasthenic syndrome 3C
|
DOID_0110664 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.] |
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immunodeficiency 28
|
DOID_0111995 |
[A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.] |
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immunodeficiency 53
|
DOID_0111992 |
[A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.] |
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congenital myasthenic syndrome 20
|
DOID_0110661 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.] |
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congenital myasthenic syndrome 1B
|
DOID_0110662 |
[A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.] |
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immunodeficiency 55
|
DOID_0111993 |
[A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.] |
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congenital myasthenic syndrome 14
|
DOID_0110669 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.] |
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Andersen-Tawil syndrome
|
DOID_0050434 |
[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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fatal familial insomnia
|
DOID_0050433 |
[A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.] |
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mulibrey nanism
|
DOID_0050436 |
[A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.] |
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Frasier syndrome
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DOID_0050438 |
[A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.] |
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Danon disease
|
DOID_0050437 |
[A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.] |
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Usher syndrome
|
DOID_0050439 |
[A syndrome characterized by a combination of hearing loss and visual impairment.] |
