Seckel syndrome 8

Preferred Label : Seckel syndrome 8;

Symbol : SCKL8;

CISMeF acronym : SCKL8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of yeast DNA replication helicase-2 gene (DNA2, 601810.0004);

Prefixed ID : #615807;

Details

Origin ID

615807;

UMLS CUI

C3891452;

Automatic exact mappings (from CISMeF team)
- DNA2 wt Allele [NCIt concept]
CISMeF manual mappings
- Seckel syndrome 8 [DO Concept]
DO Cross reference
- Seckel syndrome 8 [DO Concept]
Genes related to phenotype
- Dna replication helicase/nuclease 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Convex nasal ridge [HPO term]
- Ectopic kidney [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Short stature [HPO term]
- Spinal cord compression [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 8 [DO Concept]

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