Bardet-biedl syndrome 1

Preferred Label : Bardet-biedl syndrome 1;

Symbol : BBS1;

CISMeF acronym : BBS1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Digenic recessive;

Molecular basis : Caused by mutation in the BBS1 gene (BBS1, 209901.0001);

Prefixed ID : #209900;

Détails

Origin ID

209900;

UMLS CUI

C2936862;

Automatic exact mappings (from CISMeF team)
- BBS1 gene [LOINC component]
Currated CISMeF NLP mapping
- Bardet-Biedl syndrome 1 [DO Concept]
- Bardet-Biedl syndrome 1 [MeSH concept]
- Bardet-Biedl syndrome 1 [MeSH Supplementary Concept]
- bardet-biedl syndrome [SNOMED Notion]
DO Cross reference
- Bardet-Biedl syndrome 1 [DO Concept]
Genes related to phenotype
- Adp-ribosylation factor-like gtpase 6 [OMIM gene]
- Bbs1 gene [OMIM gene]
- Coiled-coil domain-containing protein 28b [OMIM gene]
HPO term(s)
- Abdominal obesity [HPO term]
- Abnormality of the kidney [HPO term]
- Abnormality of the ovary [HPO term]
- Aganglionic megacolon [HPO term]
- Allergy [HPO term]
- Asthma [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biliary tract abnormality [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Cataract [HPO term]
- Decreased testicular size [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Diabetes mellitus [HPO term]
- Foot polydactyly [HPO term]
- Gait imbalance [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hepatic fibrosis [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hirsutism [HPO term]
- Hyperautofluorescent macular lesion [HPO term]
- Hypertension [HPO term]
- Hypodontia [HPO term]
- Hypogonadism [HPO term]
- Insulin resistance [HPO term]
- Intellectual disability [HPO term]
- Left ventricular hypertrophy [HPO term]
- Macrocephaly [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Nephrogenic diabetes insipidus [HPO term]
- Neurological speech impairment [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Poor coordination [HPO term]
- Postaxial hand polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Radial deviation of finger [HPO term]
- Reduced visual acuity [HPO term]
- Retinal degeneration [HPO term]
- Retinal dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Short foot [HPO term]
- Specific learning disability [HPO term]
- Speech delay [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Truncal obesity [HPO term]
- Vaginal atresia [HPO term]
ORDO concept(s)
- Bardet-Biedl syndrome [ORDO Disease]
See also inter- (CISMeF)
- Bardet-Biedl syndrome 1 [ORDO Gene]
- Bardet-Biedl syndrome 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bardet-Biedl syndrome 1 [MeSH concept]
- Bardet-Biedl syndrome 1 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 1 [ORDO Gene]
- Bardet-Biedl syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Bardet Biedl syndrome [Disease (Nov.)]
- Bardet-Biedl Syndrome [NCIt concept]
- Bardet-Biedl syndrome [DO Concept]
- Bardet-Biedl syndrome [ICD-11 More detail]
- Bardet-Biedl syndrome [MeSH concept]
- Bardet-Biedl syndrome [ORDO Disease]
- Bardet-Biedl syndrome [MedDRA LLT]
- Bardet-Biedl syndrome (disorder) [SNOMED CT concept]
- Laurence-Moon syndrome [MedDRA LLT]
- Laurence-Moon syndrome (disorder) [SNOMED CT concept]
- Laurence-Moon-Bardet-Biedl syndrome [PASCAL descriptor]
- Laurence-Moon-Bardet-Biedl syndrome [MedDRA Preferred Term]
- bardet-biedl syndrome [MeSH Descriptor]

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