Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease

Preferred Label : Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease;

Symbol : FHL5;

CISMeF acronym : FHL5;

Type : Phenotype, molecular basis known;

Prefixed ID : #613101;

Détails

Origin ID

613101;

UMLS CUI

C2751293;

Currated CISMeF NLP mapping
- familial hemophagocytic lymphohistiocytosis 5 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH concept]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH Supplementary Concept]
DO Cross reference
- familial hemophagocytic lymphohistiocytosis 5 [DO Concept]
Genes related to phenotype
- Syntaxin-binding protein 2 [OMIM gene]
HPO term(s)
- Abnormal natural killer cell physiology [HPO term]
- Abnormal pulmonary interstitial morphology [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Colitis [HPO term]
- Decreased circulating antibody level [HPO term]
- Fever [HPO term]
- Hemophagocytosis [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Infantile onset [HPO term]
- Low-frequency sensorineural hearing impairment [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent fever [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Familial hemophagocytic lymphohistiocytosis [ORDO Disease]
See also inter- (CISMeF)
- STXBP2 wt Allele [NCIt concept]
- four and a half LIM domains 5 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hemophagocytic Lymphohistiocytosis Type 5 [NCIt concept]
- familial hemophagocytic lymphohistiocytosis 5 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH Supplementary Concept]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH concept]

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