|
Seckel syndrome 7
|
DOID_0070011 |
[A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.] |
|
Seckel syndrome 5
|
DOID_0070012 |
[A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.] |
|
face
|
UBERON_0001456 |
|
|
Seckel syndrome 4
|
DOID_0070010 |
[A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.] |
|
cell layer
|
UBERON_0000119 |
|
|
lamina
|
UBERON_0000957 |
|
|
autosomal recessive dyskeratosis congenita 3
|
DOID_0070019 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.] |
|
respiratory tube
|
UBERON_0000117 |
|
|
tube
|
UBERON_0000025 |
|
|
autosomal recessive dyskeratosis congenita 2
|
DOID_0070017 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.] |
|
autosomal dominant dyskeratosis congenita 3
|
DOID_0070018 |
[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.] |
|
autosomal recessive dyskeratosis congenita 1
|
DOID_0070015 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.] |
|
autosomal dominant dyskeratosis congenita 2
|
DOID_0070016 |
[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.] |
|
Seckel syndrome 2
|
DOID_0070013 |
[A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.] |
|
autosomal dominant dyskeratosis congenita 1
|
DOID_0070014 |
[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.] |
|
knee
|
UBERON_0001465 |
|
|
lower limb segment
|
UBERON_0008784 |
|
|
hyperekplexia 1
|
DOID_0060696 |
[A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.] |
|
hyperekplexia
|
DOID_0060695 |
[A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.] |
|
toe
|
UBERON_0001466 |
|
