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mucosulfatidosis
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DOID_0050441 |
[A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.] |
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Trombiculidae
|
NCBITaxon_92251 |
|
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pancreatic serous cystadenoma
|
DOID_3917 |
|
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pancreatic serous cystic neoplasm
|
DOID_3919 |
|
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congenital myasthenic syndrome 4A
|
DOID_0110678 |
[A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.] |
|
congenital myasthenic syndrome 4C
|
DOID_0110679 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.] |
|
congenital myasthenic syndrome 13
|
DOID_0110676 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.] |
|
congenital myasthenic syndrome 4B
|
DOID_0110677 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.] |
|
congenital myasthenic syndrome 17
|
DOID_0110674 |
[A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.] |
|
congenital myasthenic syndrome 11
|
DOID_0110675 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.] |
|
congenital myasthenic syndrome 21
|
DOID_0110672 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.] |
|
congenital myasthenic syndrome 19
|
DOID_0110673 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.] |
|
X-linked hypophosphatemic rickets
|
DOID_0050445 |
[A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.] |
|
infantile Refsum disease
|
DOID_0050444 |
[A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.] |
|
pachyonychia congenita
|
DOID_0050449 |
[A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.] |
|
progeria
|
DOID_3911 |
[A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.] |
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Mastomys
|
NCBITaxon_30639 |
|
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organic fundamental parent
|
CHEBI_33245 |
|
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inorganic hydride
|
CHEBI_33242 |
|
|
inorganic molecular entity
|
CHEBI_24835 |
|
