Acid-labile subunit deficiency

Preferred Label : Acid-labile subunit deficiency;

Symbol : ACLSD;

CISMeF acronym : ACLSD;

Type : Phenotype, molecular basis known;

Prefixed ID : #615961;

Details

Origin ID

615961;

UMLS CUI

C3900122;

Automatic exact mappings (from CISMeF team)
- Acid-Labile Subunit Deficiency [NCIt concept]
- IGFALS wt Allele [NCIt concept]
- Reduced insulin like growth factor binding protein acid labile subunit concentration [HPO term]
- Short stature due to primary acid-labile subunit deficiency [ORDO Disease]
Genes related to phenotype
- Insulin-like growth factor-binding protein, acid-labile subunit [OMIM gene]
HPO term(s)
- Decreased serum insulin-like growth factor 1 [HPO term]
- Delayed puberty [HPO term]
- Insulin insensitivity [HPO term]
- Mild postnatal growth retardation [HPO term]
ORDO concept(s)
- Short stature due to primary acid-labile subunit deficiency [ORDO Disease]
Semantic type(s)
- Laboratory or Test Result [UMLS semantic type]
UMLS correspondences (same concept)
- Acid-Labile Subunit Deficiency [NCIt concept]
- Reduced insulin like growth factor binding protein acid labile subunit concentration [HPO term]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients