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Hermansky-Pudlak syndrome 10
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MONDO_0014885 |
[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.] |
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Hermansky-Pudlak syndrome 3
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MONDO_0013555 |
[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.] |
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Hermansky-Pudlak syndrome without pulmonary fibrosis
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MONDO_0016502 |
[Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.] |
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qualitative or quantitative defects of alpha-actin
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MONDO_0016193 |
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qualitative or quantitative defects of nebulin
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MONDO_0016194 |
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Hermansky-Pudlak syndrome 6
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MONDO_0013558 |
[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.] |
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Hermansky-Pudlak syndrome 7
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MONDO_0013559 |
[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.] |
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intermediate nemaline myopathy
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MONDO_0015736 |
[Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.] |
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Hermansky-Pudlak syndrome 4
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MONDO_0013556 |
[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.] |
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dehydrated hereditary stomatocytosis
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MONDO_0017910 |
[Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.] |
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hereditary stomatocytosis
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MONDO_0020102 |
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Hermansky-Pudlak syndrome 5
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MONDO_0013557 |
[Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.] |
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telangiectasis
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MONDO_0001576 |
[Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.] |
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vascular ectasia
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MONDO_0021658 |
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paraplegia
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MONDO_0003757 |
[Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.] |
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palsy
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MONDO_0006496 |
[A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)] |
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cerebellar disorder
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MONDO_0002427 |
[Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.] |
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CAPN5 vitreoretinopathy
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MONDO_0100450 |
[An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.] |
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proliferative vitreoretinopathy
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MONDO_0700115 |
[Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.] |
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CEP290 ciliopathy
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MONDO_0100451 |
[A ciliopathy caused by biallelic variants in the CEP290 gene.] |
