| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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46,XY sex reversal 3
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SRXY3; sex reversal, XY, with or without adrenal f..
[+]
SRXY3; sex reversal, XY, with or without adrenal failure; 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure; 46,XY sex reversal, partial or complete, NR5A1-related; disorder of sex development, 46,XY, NR5A1-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.
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46,XY sex reversal 5
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sex reversal, XY, CBX2-related; SRXY5; 46,XY gonad..
[+]
SRXY5; sex reversal, XY, CBX2-related; 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related
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A 46 XY sex reversal characterized by an XY karyot.. [+]A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
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X-linked spinocerebellar ataxia 1
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SCAX1; X-linked progressive cerebellar ataxia
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An X-linked cerebellar ataxia characterized by hyp.. [+]An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.
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immunodeficiency 22
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severe combined immunodeficiency due to lymphocyte..
[+]
severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; SCID due to LCK deficiency; IMD22
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A severe combined immunodeficiency characterized b.. [+]A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2.
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immunodeficiency 17
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SCID-like immunodeficiency, T cell-partial, B cell..
[+]
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive; CD3-gamma deficiency; IMD17; immunodeficiency 17, CD3 gamma deficient
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A T cell deficiency characterized by partial T-cel.. [+]A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
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X-linked severe congenital neutropenia
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SCNX; XLN
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A severe congenital neutropenia that has_material_.. [+]A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.
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X-linked spondyloepimetaphyseal dysplasia
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SEMDX; SEMD X-linked
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A spondyloepimetaphyseal dysplasia that has_materi.. [+]A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
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hereditary spastic paraplegia 79B
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spastic paraplegia 79 autosomal recessive; SPG79B; ..
[+]
SPG79B; spastic paraplegia 79 autosomal recessive; autosomal recessive spastic paraplegia 79B; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
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A hereditary spastic paraplegia characterized by o.. [+]A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.
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