Congenital disorder of glycosylation, type iih

Preferred Label : Congenital disorder of glycosylation, type iih;

Symbol : CDG2H;

CISMeF acronym : CDG IIH; CDG2H;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIIh; Cdg iih;

Prefixed ID : #611182;

Details

Origin ID

611182;

UMLS CUI

C1970021;

Currated CISMeF NLP mapping
- COG8-CDG [ORDO Disease]
- Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIh [Disease (Nov.)]
- congenital disorder of glycosylation type IIh [DO Concept]
- congenital disorder of glycosylation, type IIH [MeSH concept]
- congenital disorder of glycosylation, type IIH [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation type IIh [DO Concept]
Genes related to phenotype
- Component of oligomeric golgi complex 8 [OMIM gene]
HPO term(s)
- Abnormal brain lactate level by MRS [HPO term]
- Absent speech [HPO term]
- Alternating esotropia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral coxa valga [HPO term]
- Cerebellar atrophy [HPO term]
- Clinodactyly of the 3rd toe [HPO term]
- Clinodactyly of the 4th toe [HPO term]
- Depressed nasal bridge [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated serum transaminases during infections [HPO term]
- Encephalopathy [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Failure to thrive in infancy [HPO term]
- Finger clinodactyly [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability [HPO term]
- Interface hepatitis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
- Talipes equinovarus [HPO term]
- Type II transferrin isoform profile [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- COG8-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COG8-CDG [ORDO Disease]
- Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIh [Disease (Nov.)]
- congenital disorder of glycosylation type IIh [DO Concept]
- congenital disorder of glycosylation, type IIH [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIH [MeSH concept]

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