Feingold syndrome 2

Preferred Label : Feingold syndrome 2;

Symbol : FGLDS2;

CISMeF acronym : FGLDS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachydactyly with short stature and microcephaly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the micro RNA 17 host gene (MIR17HG, 609415);

Prefixed ID : #614326;

Details

Origin ID

614326;

UMLS CUI

C3280489;

Automatic exact mappings (from CISMeF team)
- MIR17HG Gene [NCIt concept]
Currated CISMeF NLP mapping
- Feingold syndrome type 2 [ORDO Disease]
DO Cross reference
- Feingold syndrome [DO Concept]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- 3-4 toe syndactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Intellectual disability [HPO term]
- Intestinal atresia [HPO term]
- Postnatal growth retardation [HPO term]
- Secondary microcephaly [HPO term]
- Short middle phalanx of the 2nd finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Feingold syndrome [ORDO Disease]
- Feingold syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Feingold syndrome type 2 [MedDRA LLT]
Validated automatic mappings to NTBT
- Feingold syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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