| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
SC % |
| MONDO:0981002 |
combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency |
Orphanet:699593 |
MONDO:equivalentTo |
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency |
|
MONDO:8000031,MONDO:0030333 |
subtype of a disorder |
| MONDO:0981003 |
combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to aiolos deficiency |
Orphanet:699596 |
MONDO:equivalentTo |
Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency |
|
MONDO:8000031,MONDO:0030333 |
subtype of a disorder |
| MONDO:0981006 |
sickle cell s-other specified hemoglobin variant |
Orphanet:700107 |
MONDO:equivalentTo |
Sickle cell S-other specified hemoglobin variant |
|
MONDO:0979354,MONDO:8000031 |
subtype of a disorder |
| MONDO:0981034 |
common variable immunodeficiency without known genetic defect |
Orphanet:231205 |
MONDO:equivalentTo |
Common variable immunodeficiency without known genetic defect |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0981035 |
uterine arteriovenous malformation |
Orphanet:693815 |
MONDO:equivalentTo |
Uterine arteriovenous malformation |
|
MONDO:0015106,MONDO:8000034,MONDO:8000032 |
disorder |
| MONDO:0981036 |
pancreatic arteriovenous malformation |
Orphanet:693826 |
MONDO:equivalentTo |
Pancreatic arteriovenous malformation |
|
MONDO:8000034,MONDO:8000032,MONDO:0015213 |
disorder |
| MONDO:0981037 |
gastrointestinal tract arteriovenous malformation |
Orphanet:693832 |
MONDO:equivalentTo |
Gastrointestinal tract arteriovenous malformation |
|
MONDO:0015245,MONDO:0015621,MONDO:8000032,MONDO:8000034 |
disorder |
| MONDO:0981038 |
renal arteriovenous malformation |
Orphanet:693839 |
MONDO:equivalentTo |
Renal arteriovenous malformation |
|
MONDO:0019748,MONDO:8000034,MONDO:8000032 |
disorder |
| MONDO:0981039 |
hepatic arteriovenous malformation |
Orphanet:693846 |
MONDO:equivalentTo |
Hepatic arteriovenous malformation |
|
MONDO:0015113,MONDO:8000032,MONDO:8000034 |
disorder |
| MONDO:0981040 |
splenic arteriovenous malformation |
Orphanet:693863 |
MONDO:equivalentTo |
Splenic arteriovenous malformation |
|
MONDO:8000032,MONDO:8000034,MONDO:0015213 |
disorder |
| MONDO:0981041 |
gallblader arteriovenous malformation |
Orphanet:693869 |
MONDO:equivalentTo |
Gallblader arteriovenous malformation |
|
MONDO:0015213,MONDO:8000032,MONDO:8000034 |
disorder |
| MONDO:0981042 |
urinary tract arteriovenous malformation |
Orphanet:693872 |
MONDO:equivalentTo |
Urinary tract arteriovenous malformation |
|
MONDO:8000032,MONDO:0015106,MONDO:8000034 |
disorder |
| MONDO:0981043 |
common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations |
Orphanet:696857 |
MONDO:equivalentTo |
Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0981044 |
common variable immunodeficiency phenotype due to somatic mutations |
Orphanet:696863 |
MONDO:equivalentTo |
Common variable immunodeficiency phenotype due to somatic mutations |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0981045 |
common variable immunodeficiency phenotype due to germinal monogenic mutation |
Orphanet:696870 |
MONDO:equivalentTo |
Common variable immunodeficiency phenotype due to germinal monogenic mutation |
|
MONDO:8000033 |
group of disorders |
| MONDO:0981046 |
autoimmune heparin-induced thrombocytopenia |
Orphanet:698945 |
MONDO:equivalentTo |
Autoimmune heparin-induced thrombocytopenia |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0981047 |
spontaneous heparin-induced thrombocytopenia |
Orphanet:699021 |
MONDO:equivalentTo |
Spontaneous heparin-induced thrombocytopenia |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0981048 |
vaccine-induced immune thrombotic thrombocytopenia |
Orphanet:699029 |
MONDO:equivalentTo |
Vaccine-induced immune thrombotic thrombocytopenia |
|
MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0981168 |
angioosteohypertrophic syndrome |
Orphanet:2346 |
MONDO:equivalentTo |
Angioosteohypertrophic syndrome |
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. |
MONDO:0019716,MONDO:0019293,MONDO:0016524,MONDO:8000033,MONDO:0020063,MONDO:0015948,MONDO:0016235,MONDO:0033927 |
group of disorders |
| MONDO:0981230 |
primary hypophysitis |
Orphanet:95506 |
MONDO:equivalentTo |
Primary hypophysitis |
|
MONDO:0019832,MONDO:8000033 |
group of disorders |
| MONDO:0981235 |
young adult-onset distal hereditary motor neuropathy |
Orphanet:314485 |
MONDO:equivalentTo |
Young adult-onset distal hereditary motor neuropathy |
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. |
MONDO:8000034,MONDO:0015363,MONDO:0000001 |
disorder |