Rare Disease Index

human disease

human disease

human disease

Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics

human disease

Increased distance between the inner corners of the eyelids

human disease

TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting

medical condition

any condition affecting the anatomic and functional characteristics of the temporomandibular joint

human disease

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities

A rare, locally aggressive neoplasm of the synovium of joints, bursae, and tendon sheaths driven by CSF1 overexpression. Presents as localized or diffuse (pigmented villonodular synovitis) forms.

human disease

medical condition of mis-shaped sperm

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis

human disease

human disease

human disease

human disease

testicular tumor that has material basis in germ cells

Human disease

Human disease

human disease

bacterial infection characterized by muscle spasms

neurological disorders

human disease

medical condition