Roifman-chitayat syndrome

Preferred Label : Roifman-chitayat syndrome;

Symbol : ROCHIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay;

Inheritance : Autosomal recessive;

Prefixed ID : #613328;

Details

Origin ID

613328;

UMLS CUI

C2750068;

Currated CISMeF NLP mapping
- Combined immunodeficiency with faciooculoskeletal anomalies [ORDO Disease]
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) [SNOMED CT concept]
- Roifman-Chitayat syndrome [MeSH concept]
- Roifman-Chitayat syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Kinetochore-localized astrin/spag5-binding protein [OMIM gene]
- Phosphatidylinositol 3-kinase, catalytic, delta [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal root [HPO term]
- Cone-shaped epiphysis [HPO term]
- Depressed nasal bridge [HPO term]
- Dyskinesia [HPO term]
- Ectopic kidney [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Lacrimal duct stenosis [HPO term]
- Optic atrophy [HPO term]
- Osteopenia [HPO term]
- Pneumonia [HPO term]
- Shallow orbital ridges [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Thin lower lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Combined immunodeficiency with faciooculoskeletal anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency with faciooculoskeletal anomalies [ORDO Disease]
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) [SNOMED CT concept]
- Roifman-Chitayat syndrome [MeSH Supplementary Concept]
- Roifman-Chitayat syndrome [MeSH concept]

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