|
primary autosomal recessive microcephaly 17
|
DOID_0070288 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.] |
|
primary autosomal recessive microcephaly 16
|
DOID_0070289 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.] |
|
primary autosomal recessive microcephaly 6
|
DOID_0070290 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.] |
|
primary microcephaly
|
DOID_0070297 |
[A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation.] |
|
multiple epiphyseal dysplasia 2
|
DOID_0070298 |
[A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.] |
|
primary autosomal dominant microcephaly 18
|
DOID_0070295 |
[A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.] |
|
primary autosomal recessive microcephaly 2 with or without cortical malformations
|
DOID_0070293 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.] |
|
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.] |
|
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.] |
|
primary autosomal recessive microcephaly 9
|
DOID_0070292 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.] |
|
multiple epiphyseal dysplasia 5
|
DOID_0070299 |
[A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24.] |
|
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.] |
|
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.] |
|
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.] |
|
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.] |
|
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.] |
|
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.] |
|
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.] |
|
Human betaherpesvirus 7
|
NCBITaxon_10372 |
|
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Roseolovirus humanbeta7
|
NCBITaxon_3050298 |
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