Liberfarb syndrome

Preferred Label : Liberfarb syndrome;

Symbol : LIBF;

CISMeF acronym : LIBF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloepimetaphyseal dysplasia, liberfarb type; SEMDLIBF;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylserine decarboxylase gene (PISD, 612770.0001);

Prefixed ID : #618889;

Details

Origin ID

618889;

UMLS CUI

C5394404;

Currated CISMeF NLP mapping
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome [ORDO Disease]
Genes related to phenotype
- Phosphatidylserine decarboxylase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Metaphyseal striations [HPO term]
- Microcephaly [HPO term]
- Optic disc pallor [HPO term]
- Retinal degeneration [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]

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