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Short rib-polydactyly syndrome, Majewski type
2 OMIM references -
2 associated genes
18 connected diseases
No signs/symptoms info
Disease Type of connection
Jeune syndrome
Short rib-polydactyly syndrome, Verma-Naumoff type
Young adult-onset Parkinsonism
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Ataxia-telangiectasia-like disorder
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Hereditary breast and ovarian cancer syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Lymphangioleiomyomatosis
Smith-Fineman-Myers syndrome
Tuberous sclerosis
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Synonym(s):
- Short rib-polydactyly syndrome type 2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
DYNC2H1 Q8NCM8603297
NEK1 Q96PY6604588
No signs/symptoms info available.