| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
SC % |
| MONDO:0978309 |
ebv susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
Orphanet:664734 |
MONDO:equivalentTo |
EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature |
|
MONDO:8000033 |
group of disorders |
| MONDO:0979268 |
visceral arteriovenous malformation |
Orphanet:693855 |
MONDO:equivalentTo |
Visceral arteriovenous malformation |
|
MONDO:8000033,MONDO:0016234 |
group of disorders |
| MONDO:0979303 |
common variable immunodeficiency and related disorders |
Orphanet:696851 |
MONDO:equivalentTo |
Common variable immunodeficiency and related disorders |
|
MONDO:8000033,MONDO:0015132 |
group of disorders |
| MONDO:0979324 |
platelet-activating anti-platelet factor 4 disorder |
Orphanet:698914 |
MONDO:equivalentTo |
Platelet-activating anti-platelet factor 4 disorder |
|
MONDO:8000033,MONDO:0016634,MONDO:0015939 |
group of disorders |
| MONDO:0979358 |
x-linked distal myopathy |
Orphanet:700143 |
MONDO:equivalentTo |
X-linked distal myopathy |
|
MONDO:0018949,MONDO:8000033 |
group of disorders |
| MONDO:0980994 |
hereditary atrial tachyarrhythmia-infra-hisian cardiac conduction disease |
Orphanet:436242 |
MONDO:equivalentTo |
Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease |
A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood. |
MONDO:0015110,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0980995 |
zmynd11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation |
Orphanet:694308 |
MONDO:equivalentTo |
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation |
|
MONDO:0014486,MONDO:8000031 |
subtype of a disorder |
| MONDO:0980996 |
intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to cnot2 mutation |
Orphanet:697764 |
MONDO:equivalentTo |
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation |
|
MONDO:8000031,MONDO:0032832 |
subtype of a disorder |
| MONDO:0980997 |
fibromuscular dysplasia of the cervical and intracranial arteries |
Orphanet:698036 |
MONDO:equivalentTo |
Fibromuscular dysplasia of the cervical and intracranial arteries |
|
MONDO:0006761,MONDO:8000031 |
subtype of a disorder |
| MONDO:0980998 |
fibromuscular dysplasia of the renal arteries |
Orphanet:698043 |
MONDO:equivalentTo |
Fibromuscular dysplasia of the renal arteries |
|
MONDO:0006761,MONDO:8000031 |
subtype of a disorder |
| MONDO:0980999 |
fibromuscular dysplasia of the coronary arteries |
Orphanet:698059 |
MONDO:equivalentTo |
Fibromuscular dysplasia of the coronary arteries |
|
MONDO:8000031,MONDO:0006761 |
subtype of a disorder |
| MONDO:0981000 |
fibromuscular dysplasia of the visceral arteries |
Orphanet:698063 |
MONDO:equivalentTo |
Fibromuscular dysplasia of the visceral arteries |
|
MONDO:8000031,MONDO:0006761 |
subtype of a disorder |
| MONDO:0981001 |
fibromuscular dysplasia of the arteries of the extremities |
Orphanet:698069 |
MONDO:equivalentTo |
Fibromuscular dysplasia of the arteries of the extremities |
|
MONDO:8000031,MONDO:0006761 |
subtype of a disorder |
| 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:0981004 |
sickle cell s-lepore disease |
Orphanet:699822 |
MONDO:equivalentTo |
Sickle cell S-Lepore disease |
|
MONDO:0979354,MONDO:8000031 |
subtype of a disorder |
| MONDO:0981005 |
sickle cell s-o arab disease |
Orphanet:700090 |
MONDO:equivalentTo |
Sickle cell S-O Arab disease |
|
MONDO:8000031,MONDO:0979354 |
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:0981007 |
early-onset idiopathic chronic pancreatitis |
Orphanet:700136 |
MONDO:equivalentTo |
Early-onset idiopathic chronic pancreatitis |
|
MONDO:0979357,MONDO:8000031 |
subtype of a disorder |
| MONDO:0981008 |
late-onset idiopathic chronic pancreatitis |
Orphanet:700139 |
MONDO:equivalentTo |
Late-onset idiopathic chronic pancreatitis |
|
MONDO:0979357,MONDO:8000031 |
subtype of a disorder |