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primary autosomal recessive microcephaly 2 with or without cortical malformations
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DOID_0070293 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.] |
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primary autosomal recessive microcephaly 10
|
DOID_0070294 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.] |
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primary autosomal recessive microcephaly 4
|
DOID_0070291 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.] |
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primary autosomal recessive microcephaly 9
|
DOID_0070292 |
[A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.] |
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multiple epiphyseal dysplasia 5
|
DOID_0070299 |
[A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.] |
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congenital disorder of glycosylation type IIl
|
DOID_0070264 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.] |
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congenital disorder of glycosylation type II
|
DOID_0050571 |
[A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.] |
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congenital disorder of glycosylation type IIm
|
DOID_0070265 |
[A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.] |
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congenital disorder of glycosylation type IIj
|
DOID_0070262 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.] |
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congenital disorder of glycosylation type IIk
|
DOID_0070263 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.] |
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congenital disorder of glycosylation type IIh
|
DOID_0070260 |
[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.] |
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congenital disorder of glycosylation type IIi
|
DOID_0070261 |
[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.] |
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Human betaherpesvirus 7
|
NCBITaxon_10372 |
|
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Roseolovirus humanbeta7
|
NCBITaxon_3050298 |
|
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Lymphocryptovirus
|
NCBITaxon_10375 |
|
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Gammaherpesvirinae
|
NCBITaxon_10374 |
|
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human gammaherpesvirus 4
|
NCBITaxon_10376 |
|
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Lymphocryptovirus humangamma4
|
NCBITaxon_3050299 |
|
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Rhadinovirus
|
NCBITaxon_10379 |
|
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congenital disorder of glycosylation type IIp
|
DOID_0070268 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.] |
