All terms in MONDO_RARE

Label Id Description
hip dysplasia, Beukes type MONDO_0007726 [Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.]
autosomal dominant familial periodic fever MONDO_0007727 [A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.]
hereditary periodic fever syndrome MONDO_0017953 [An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.]
hirsutism-skeletal dysplasia-intellectual disability syndrome MONDO_0007724
hereditary progressive mucinous histiocytosis MONDO_0007725 [Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.]
non-Langerhans cell histiocytosis MONDO_0015531 [Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).]
KIT 6342
congenital anomaly of kidney and urinary tract MONDO_0019719 [A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.]
inherited kidney disorder MONDO_0100191 [A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.]
inherited rippling muscle disease MONDO_0020704 [A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.]
rippling muscle disease MONDO_0011634 [A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch]
hereditary skeletal muscle disorder MONDO_0700223 [An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.]
erythroid neoplasm MONDO_0020703
myeloproliferative neoplasm MONDO_0020076 [A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)]
non-syndromic limb reduction defect MONDO_0019713
autosomal dominant epidermolytic ichthyosis MONDO_0020702
epidermolytic ichthyosis MONDO_0007239 [A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.]
brachydactyly type A1A MONDO_0020701
brachydactyly MONDO_0021004 [A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.]
Huntington disease MONDO_0007739 [Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.]