All terms in MONDO_RARE

Label Id Description
Kasabach-Merritt syndrome MONDO_0007708 [Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.]
hepatic adenomas, familial MONDO_0007718
hepatocellular adenoma MONDO_0018902 [A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.]
alpha thalassemia-intellectual disability syndrome type 1 MONDO_0007716 [Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.]
partial deletion of the short arm of chromosome 16 MONDO_0016894
hematologic disorder MONDO_0005570 [A disease involving the hematopoietic system.]
clonic hemifacial spasm MONDO_0007713
facial nerve disorder MONDO_0002098 [A disease involving the facial nerve.]
Bencze syndrome MONDO_0007711 [Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.]
oculoauriculovertebral spectrum with radial defects MONDO_0007712 [Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.]
facial hemiatrophy MONDO_0007710 [Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.]
NCF1 7660
NCF4 7662
NCF2 7661
primary osteolysis MONDO_0019707
neonatal osteosclerotic dysplasia MONDO_0019702
osteochondrodysplasia MONDO_0005516 [A term referring to disorders characterized by abnormalities in the development of bones and cartilage.]
chondrodysplasia punctata MONDO_0019701 [A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.]
diaphragmatic hernia 1 MONDO_0007719
congenital diaphragmatic hernia MONDO_0005711 [A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.]