Roifman syndrome

Preferred Label : Roifman syndrome;

Symbol : RFMN;

CISMeF acronym : RFMN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA, U4, small nuclear, AT-AC form gene (RNU4ATAC, 601428.0001);

Prefixed ID : #616651;

Details

Origin ID

616651;

UMLS CUI

C1846059;

CISMeF manual mappings
- roifman syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Roifman syndrome [ORDO Disease]
- Roifman syndrome [MeSH concept]
- Roifman syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Rna, u4atac small nuclear [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biconvex vertebral bodies [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Eczema [HPO term]
- Eosinophilia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hip contracture [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Irregular femoral epiphysis [HPO term]
- Irregular vertebral endplates [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Lymphadenopathy [HPO term]
- Microcephaly [HPO term]
- Narrow nose [HPO term]
- Noncompaction cardiomyopathy [HPO term]
- Postnatal growth retardation [HPO term]
- Premature birth [HPO term]
- Prominent eyelashes [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Retinal dystrophy [HPO term]
- Short digit [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Single transverse palmar crease [HPO term]
- Splenomegaly [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Roifman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Roifman syndrome [MeSH concept]
- Roifman syndrome [ORDO Disease]
- Roifman syndrome (disorder) [SNOMED CT concept]
- roifman syndrome [MeSH Supplementary Concept]

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