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atypical depressive disorder
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DOID_12294 |
[A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.] |
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obsolete recurrent malignant endocervical neoplasm
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DOID_12292 |
|
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Betapolyomavirus hominis
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NCBITaxon_1891762 |
|
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hindlimb endochondral element
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UBERON_0015022 |
|
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cefotiam
|
CHEBI_355510 |
|
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semisynthetic derivative
|
CHEBI_72588 |
|
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mesonephric duct
|
UBERON_0003074 |
|
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mesonephric tubule
|
UBERON_0000083 |
|
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autosomal dominant distal hereditary motor neuronopathy 6
|
DOID_0111210 |
[A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32.] |
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autosomal dominant centronuclear myopathy
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DOID_0111217 |
[A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance.] |
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Friedreich ataxia 1
|
DOID_0111218 |
[A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.] |
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autosomal dominant distal hereditary motor neuronopathy 8
|
DOID_0111215 |
[An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.] |
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autosomal recessive centronuclear myopathy
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DOID_0111216 |
[A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance.] |
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autosomal recessive distal hereditary motor neuronopathy 4
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DOID_0111213 |
[An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.] |
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autosomal recessive distal hereditary motor neuronopathy 5
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DOID_0111214 |
[An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.] |
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autosomal recessive distal hereditary motor neuronopathy 3
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DOID_0111211 |
[An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.] |
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autosomal dominant distal hereditary motor neuronopathy 9
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DOID_0111212 |
[An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2.] |
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Friedreich ataxia 2
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DOID_0111219 |
[A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region.] |
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susceptibility to familial breast-ovarian cancer 1
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MIM_604370 |
|
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autosomal dominant distal hereditary motor neuronopathy 2
|
DOID_0111206 |
[An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.] |
