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Anauxetic dysplasia
1 OMIM reference -
2 associated genes
17 connected diseases
No signs/symptoms info
Disease Type of connection
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Early-onset autosomal dominant Alzheimer disease
Estrogen resistance syndrome
Familial multinodular goiter
Isolated anophthalmia - microphthalmia
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Ovarian malignant Sertoli-Leydig cell tumor
Pleuropulmonary blastoma family tumor susceptibility syndrome
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
Wolf-Hirschhorn syndrome
Xeroderma pigmentosum complementation group E
Spinocerebellar ataxia type 36
Translocation renal cell carcinoma
Synonym(s):
- Spondyloepimetaphyseal dysplasia, Menger type
- Spondyloepimetaphyseal dysplasia, anauxetic type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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:
1 OMIM reference -
1 MeSH reference: C538256
Gene symbol UniProt reference OMIM reference
POP1 Q99575602486
RMRP 157660
No signs/symptoms info available.