Borjeson-forssman-lehmann syndrome

Preferred Label : Borjeson-forssman-lehmann syndrome;

Symbol : BFLS;

CISMeF acronym : BFLS; BORJ; MRXSBFL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, borjeson-forssman-lehmann type; Mental retardation, epilepsy, and endocrine disorders; MRXSBFL; BORJ; Borjeson syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the PHD finger protein 6 gene (PHF6, 300414.0001);

Prefixed ID : #301900;

Détails

Origin ID

301900;

UMLS CUI

C0265339;

Automatic exact mappings (from CISMeF team)
- BFL [MeSH concept]
- PHF6 wt Allele [NCIt concept]
- symbol withdrawn BFLS [HGNC gene]
Currated CISMeF NLP mapping
- Borjeson Forssman Lehmann syndrome [Disease (Nov.)]
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
- Borjeson-Forssman-Lehmann syndrome [MeSH concept]
- Borjeson-Forssman-Lehmann syndrome [MeSH Supplementary Concept]
- Borjeson-Forssman-Lehmann syndrome [ORDO Disease]
- Borjeson-Forssman-Lehmann syndrome (disorder) [SNOMED CT concept]
- Börjeson-Forssman-Lehmann syndrome [ICD-11 More detail]
- Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type [NCIt concept]
- borjeson-forssman-lehmann syndrome [SNOMED Notion]
DO Cross reference
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
Genes related to phenotype
- Phd finger protein 6 [OMIM gene]
HPO term(s)
- Blepharophimosis [HPO term]
- Cervical spinal canal stenosis [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed puberty [HPO term]
- EEG abnormality [HPO term]
- Generalized hypotonia [HPO term]
- Gynecomastia [HPO term]
- Hypoplasia of the prostate [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Kyphosis [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Narrow palpebral fissure [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Prominent supraorbital ridges [HPO term]
- Ptosis [HPO term]
- Scheuermann-like vertebral changes [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Shortening of all distal phalanges of the fingers [HPO term]
- Shortening of all middle phalanges of the fingers [HPO term]
- Tapered finger [HPO term]
- Thickened calvaria [HPO term]
- Visual impairment [HPO term]
- Widely spaced and flexed toes [HPO term]
- Widely spaced toes [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Borjeson-Forssman-Lehmann syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Borjeson Forssman Lehmann syndrome [Disease (Nov.)]
- Borjeson-Forssman-Lehmann syndrome [ORDO Disease]
- Borjeson-Forssman-Lehmann syndrome [MeSH Supplementary Concept]
- Borjeson-Forssman-Lehmann syndrome [MeSH concept]
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
- Borjeson-Forssman-Lehmann syndrome (disorder) [SNOMED CT concept]
- Börjeson-Forssman-Lehmann syndrome [ICD-11 More detail]
- Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type [NCIt concept]
- borjeson-forssman-lehmann syndrome [SNOMED Notion]

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