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congenital stationary night blindness 2A
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DOID_0110871 |
[A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.] |
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obsolete convergence insufficiency or palsy
|
DOID_541 |
|
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larynx carcinoma in situ
|
DOID_9011 |
[An in situ carcinoma that is located_in the larynx.] |
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obsolete Sezary's disease involving lymph nodes of axilla and upper limb
|
DOID_9017 |
|
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holoprosencephaly 5
|
DOID_0110878 |
[A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32.] |
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holoprosencephaly 8
|
DOID_0110879 |
[A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13.] |
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organic oxo compound
|
CHEBI_36587 |
|
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Munchausen by proxy
|
DOID_0060045 |
[A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.] |
|
factitious disorder
|
DOID_1766 |
[A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness.] |
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obsolete Mycosis fungoides involving spleen
|
DOID_9019 |
|
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atypical autism
|
DOID_0060042 |
[An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism.] |
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susceptibility to autism 8
|
MIM_607373 |
|
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obsolete perinatal disease
|
DOID_1986 |
|
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ataxic cerebral palsy
|
DOID_0050670 |
[A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.] |
|
cerebral palsy
|
DOID_1969 |
[A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.] |
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obsolete Mononegavirales infectious disease
|
DOID_1983 |
[A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses.] |
|
dyskinetic cerebral palsy
|
DOID_0050672 |
[A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.] |
|
obsolete Rhabdoviridae infectious disease
|
DOID_1982 |
[A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses.] |
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mixed cerebral palsy
|
DOID_0050673 |
[A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.] |
|
terminator_codon_variant
|
SO_0001590 |
|