Fraser syndrome 2

Preferred Label : Fraser syndrome 2;

Symbol : FRASRS2;

CISMeF acronym : FRASRS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FRAS1-related extracellular matrix protein 2 gene (FREM2, 608945.0001);

Prefixed ID : #617666;

Details

Origin ID

617666;

UMLS CUI

C4540036;

Automatic exact mappings (from CISMeF team)
- Fraser syndrome 2 [DO Concept]
DO Cross reference
- Fraser syndrome 2 [DO Concept]
Genes related to phenotype
- Fras1-related extracellular matrix protein 2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Ambiguous genitalia [HPO term]
- Aplasia of the bladder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptophthalmos [HPO term]
- Cutaneous syndactyly [HPO term]
- Narrow mouth [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Short thorax [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Fraser syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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