3.1.e
Disorders of ribosomal biogenesis
- Treacher Collins syndrome type 1
- Treacher Collins syndrome type 2
- Treacher Collins syndrome type 3
- Treacher Collins syndrome type 4
- Acrofacial dysostosis, Cincinnati type
- POLR3-related leukodystrophy (Hypomyelinating leukodystrophy type 11)
- POLR3-related leukodystrophy (hypomyelinating leukodystrophy type 7)
- Wiedemann-Rautenstrauch syndrome
- POLR3-related leukodystrophy (hypomyelinating leukodystrophy type 8)
- POLR3H-related primary ovarian insufficiency
- TAF1A-related familial isolated dilated cardiomyopathy
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- X-linked dyskeratosis congenita
- Autosomal recessive dyskeratosis congenita type 1
- Autosomal recessive dyskeratosis congenita type 2
- Nucleophosmin 1 deficiency
- Leukoencephalopathy with brain calcifications and cysts
- Cartilage-hair hypoplasia – more severe form: anauxetic dysplasia type 1 (Cartilage-hair hypoplasia; metaphyseal dysplasia without hypotrichosis; anauxetic dysplasia type 1)
- POP1 deficiency (Anauxetic dysplasia type 2)
- NEPRO-related skeletal dysplasia (Anauxetic dysplasia type 3)
- Bowen-Conradi syndrome
- BMS1-related aplasia cutis congenita
- Diamond-Blackfan anemia type 1
- Diamond-Blackfan anemia type 3
- Diamond-Blackfan anemia type 4
- Diamond-Blackfan anemia type 5
- Diamond-Blackfan anemia type 6
- Diamond-Blackfan anemia type 7
- Diamond-Blackfan anemia type 8
- Diamond-Blackfan anemia type 9
- Diamond-Blackfan anemia type 10
- Diamond-Blackfan anemia type 11
- Diamond-Blackfan anemia type 12
- Diamond-Blackfan anemia type 13
- Diamond-Blackfan anemia type 14
- Diamond-Blackfan anemia type 15
- Diamond-Blackfan anemia type 16
- Diamond-Blackfan anemia type 17
- Diamond-Blackfan anemia type 18
- Diamond-Blackfan anemia type 19
- Diamond-Blackfan anemia type 20
- Cytosolic large ribosomal subunit 10 deficiency
- Cytosolic large ribosomal subunit 13 deficiency (Spondyloepimetaphyseal dysplasia, Isidor-Toutain type)
- Cytosolic large ribosomal subunit 21 deficiency (Hypotrichosis 12)
- Cytosolic small ribosomal subunit 20 deficiency
- Cytosolic small ribosomal subunit 23 deficiency (Brachycephaly, trichomegaly, and developmental delay)
- Cytosolic ribosomal SA deficiency (Isolated congenital asplenia)
- Poly(A)-specific ribonuclease deficiency (Autosomal recessive dyskeratosis congenita; telomere-related pulmonary fibrosis and/or bone marow failure type 4, dominant)
- Shwachman-Diamond syndrome type 1
- Shwachman-Diamond syndrome type 2
- Shwachman-Diamond syndrome, DNAJC21 type
- Shwachman-Diamond syndrome, EIF6 type
Subnetworks
NOMS
Disorders of neuromodulators and other small molecules
