Immunodeficiency 87 and autoimmunity

Preferred Label : Immunodeficiency 87 and autoimmunity;

Symbol : IMD87;

Type : Phenotype, molecular basis known;

Prefixed ID : #619573;

Details

Origin ID

619573;

UMLS CUI

C5562070;

Genes related to phenotype
- Def6 guanine nucleotide exchange factor [OMIM gene]
HPO term(s)
- Abnormal lymphocyte proliferation [HPO term]
- Anasarca [HPO term]
- Anticardiolipin IgG antibody positivity [HPO term]
- Ascites [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Atrophic gastritis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biventricular hypertrophy [HPO term]
- Cervical lymphadenopathy [HPO term]
- Childhood onset [HPO term]
- Cholestasis [HPO term]
- Cleft palate [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Decreased proportion of CD4-positive T cells [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Growth delay [HPO term]
- Hemolytic anemia [HPO term]
- Hepatic failure [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hodgkin lymphoma [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypokalemia [HPO term]
- Increased fecal calprotectin level [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Inverted nipples [HPO term]
- Jaundice [HPO term]
- Juvenile onset [HPO term]
- Lymphopenia [HPO term]
- Metabolic acidosis [HPO term]
- Necrotizing enterocolitis [HPO term]
- Oligohydramnios [HPO term]
- Perianal dermatitis [HPO term]
- Perinuclear antineutrophil antibody positivity [HPO term]
- Persistent EBV viremia [HPO term]
- Pleural effusion [HPO term]
- Premature rupture of membranes [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fever [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent viral infections [HPO term]
- Secretory diarrhea [HPO term]
- Sepsis [HPO term]
- Severe cytomegalovirus infection [HPO term]
- Small for gestational age [HPO term]
- Third degree atrioventricular block [HPO term]
- Thrombocytopenia [HPO term]
- Villous atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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