Birk-barel syndrome

Preferred Label : Birk-barel syndrome;

Symbol : BIBARS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Birk-barel mental retardation dysmorphism syndrome; Mental retardation with hypotonia and facial dysmorphism;

Prefixed ID : #612292;

Details

Origin ID

612292;

UMLS CUI

C2676770;

Automatic exact mappings (from CISMeF team)
- Birk-Barel syndrome [DO Concept]
Currated CISMeF NLP mapping
- Birk-Barel mental retardation dysmorphism syndrome [MeSH concept]
- Birk-Barel mental retardation dysmorphism syndrome [MeSH Supplementary Concept]
- Intellectual disability Birk-Barel type (disorder) [SNOMED CT concept]
- Intellectual disability, Birk-Barel type [ORDO Disease]
DO Cross reference
- Birk-Barel syndrome [DO Concept]
Genes related to phenotype
- Potassium channel, subfamily k, member 9 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Dysphagia [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long face [HPO term]
- Microretrognathia [HPO term]
- Narrow forehead [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Sacral dimple [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Submucous cleft soft palate [HPO term]
- Tented upper lip vermilion [HPO term]
ORDO concept(s)
- Intellectual disability, Birk-Barel type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Birk-Barel mental retardation dysmorphism syndrome [MeSH Supplementary Concept]
- Birk-Barel mental retardation dysmorphism syndrome [MeSH concept]
- Intellectual disability Birk-Barel type (disorder) [SNOMED CT concept]
- Intellectual disability, Birk-Barel type [ORDO Disease]

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