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fetal nicotine spectrum disorder
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DOID_0060606 |
[A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.] |
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specific developmental disorder
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DOID_0060038 |
[A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.] |
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microcephalic osteodysplastic primordial dwarfism type I
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DOID_0060608 |
[An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.] |
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microcephalic osteodysplastic primordial dwarfism type II
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DOID_0060609 |
[An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.] |
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onset
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HP_0003674 |
[The age group in which disease manifestations appear.] |
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flame retardant
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CHEBI_79314 |
[Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire.] |
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chemical driver
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DISDRIV_0000006 |
[A disease driver that is a chemical.] |
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Progressive neurologic deterioration
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HP_0002344 |
|
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Mental deterioration
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HP_0001268 |
|
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obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
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DOID_0060600 |
|
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Hypopigmentation of the skin
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HP_0001010 |
|
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alpha-2-plasmin inhibitor deficiency
|
DOID_0060601 |
[A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.] |
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hemorrhagic disease
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DOID_2213 |
|
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alpha-methylacyl-CoA racemase deficiency
|
DOID_0060602 |
[A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.] |
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peroxisomal disease
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DOID_906 |
[An inherited metabolic disorder that involves peroxisome malfunction.] |
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isolated anhidrosis with normal sweat glands
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DOID_0060603 |
[An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11.] |
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anhidrosis
|
DOID_11156 |
[A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.] |
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ankyloglossia
|
DOID_0060604 |
[A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.] |
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tongue disease
|
DOID_10944 |
[A mouth disease located_in the tongue.] |
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Ixodida
|
NCBITaxon_6935 |
|