|
primary autosomal recessive microcephaly 3
|
DOID_0070286 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.] |
|
primary autosomal recessive microcephaly
|
DOID_0070296 |
[A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.] |
|
primary autosomal recessive microcephaly 11
|
DOID_0070287 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.] |
|
primary autosomal recessive microcephaly 12
|
DOID_0070284 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.] |
|
primary autosomal recessive microcephaly 1
|
DOID_0070285 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.] |
|
primary autosomal recessive microcephaly 8
|
DOID_0070282 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.] |
|
primary autosomal recessive microcephaly 13
|
DOID_0070283 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.] |
|
primary autosomal recessive microcephaly 5
|
DOID_0070280 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.] |
|
Penaeus
|
NCBITaxon_133894 |
|
|
Penaeidae
|
NCBITaxon_6685 |
|
|
primary autosomal recessive microcephaly 19
|
DOID_0070281 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.] |
|
Dipodascaceae
|
NCBITaxon_34353 |
|
|
Dipodascales
|
NCBITaxon_3243772 |
|
|
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.] |
|
autosomal dominant primary microcephaly
|
DOID_0061100 |
[A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation.] |
