Sclerosteosis 2

Preferred Label : Sclerosteosis 2;

Symbol : SOST2;

CISMeF acronym : SOST2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 4 gene (LRP4, 604270.0009);

Prefixed ID : #614305;

Details

Origin ID

614305;

UMLS CUI

C3280402;

Automatic exact mappings (from CISMeF team)
- LDL receptor related protein 4 [ORDO Gene]
- LDL receptor related protein 4 [HGNC gene]
Currated CISMeF NLP mapping
- sclerosteosis 2 [DO Concept]
DO Cross reference
- sclerosteosis 2 [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Facial asymmetry [HPO term]
- Facial palsy [HPO term]
- Frontal bossing [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Nail dysplasia [HPO term]
- Short finger [HPO term]
- Tetraparesis [HPO term]
ORDO concept(s)
- Sclerosteosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- sclerosteosis 2 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients