Bardet-biedl syndrome 17

Preferred Label : Bardet-biedl syndrome 17;

Symbol : BBS17;

CISMeF acronym : BBS17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine zipper transcription factor-like 1 gene (LZTFL1, 606568.0001);

Prefixed ID : #615994;

Details

Origin ID

615994;

UMLS CUI

C3714980;

Currated CISMeF NLP mapping
- Bardet-Biedl syndrome 17 [DO Concept]
DO Cross reference
- Bardet-Biedl syndrome 17 [DO Concept]
Genes related to phenotype
- Leucine zipper transcription factor-like 1 [OMIM gene]
HPO term(s)
- Anosmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Brachydactyly [HPO term]
- Cognitive impairment [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Congenital onset [HPO term]
- Dextrocardia [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Hyposmia [HPO term]
- Intellectual disability [HPO term]
- Macular atrophy [HPO term]
- Mesoaxial hand polydactyly [HPO term]
- Mesoaxial polydactyly [HPO term]
- Micropenis [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Poor coordination [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Renal cyst [HPO term]
- Retinal degeneration [HPO term]
- Rod-cone dystrophy [HPO term]
- Short fourth metatarsal [HPO term]
- Situs inversus totalis [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Bardet-Biedl syndrome [ORDO Disease]
See also inter- (CISMeF)
- LZTFL1 wt Allele [NCIt concept]
- leucine zipper transcription factor like 1 [ORDO Gene]
- leucine zipper transcription factor like 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Bardet-Biedl syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients