Rare Disease Index

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth

lymphoma primarily involving the thyroid gland

malignant thyroid neoplasm originating from C-cells

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula

human disease

human disease

late-onset muscular dystrophy beginning in the anterior comparment of the legs

viral infectious disease involving the central nervous system

monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13

autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C

Classic form of Timothy syndrome, includes all features of generic

human disease

Human disease

human disease

Human disease

Human disease

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital

Human disease

dystonia characterized by autosomal dominant inheritance of focal or segmental dystonia with cranial, cervical, or upper limb involvement that has material basis in variation in the chromosome region 1p36.32-p36.13

human disease

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet

DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)

characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in heterozygous mutation in the THAP1 gene on chromosome 8p11