Bainbridge-ropers syndrome

Preferred Label : Bainbridge-ropers syndrome;

Symbol : BRPS;

CISMeF acronym : BRPS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the additional sex combs-like 3 gene (ASXL3, 615115.0001);

Prefixed ID : #615485;

Details

Origin ID

615485;

UMLS CUI

C4750837;

CISMeF manual mappings
- Bainbridge-Ropers syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Bainbridge-Ropers syndrome [DO Concept]
- Bainbridge-Ropers syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Asxl transcriptional regulator 3 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Arachnodactyly [HPO term]
- Autism [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breech presentation [HPO term]
- Broad nasal tip [HPO term]
- Caesarian section [HPO term]
- Choanal stenosis [HPO term]
- Contracture of the proximal interphalangeal joint of the 4th finger [HPO term]
- Cryptorchidism [HPO term]
- Death in infancy [HPO term]
- Deep palmar crease [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Dilation of lateral ventricles [HPO term]
- Disproportionate tall stature [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hand clenching [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Large fontanelles [HPO term]
- Laryngomalacia [HPO term]
- Long eyelashes [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Metopic synostosis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nasogastric tube feeding [HPO term]
- Periorbital fullness [HPO term]
- Pes planus [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Precocious puberty [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Proptosis [HPO term]
- Recurrent hand flapping [HPO term]
- Recurrent infections [HPO term]
- Retrognathia [HPO term]
- Scaphocephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Severe global developmental delay [HPO term]
- Short chin [HPO term]
- Short columella [HPO term]
- Short nose [HPO term]
- Sloping forehead [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thin eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Trigonocephaly [HPO term]
- Tube feeding [HPO term]
- Ulnar deviation of the hand [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vomiting [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Bainbridge-Ropers syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bainbridge-Ropers syndrome [ORDO Disease]
- Bainbridge-Ropers syndrome [MeSH Supplementary Concept]
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder) [SNOMED CT concept]

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