Rare Disease Index

human disease

developmental defect during embryogenesis

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry

Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture

human disease

human disease

Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone

human disease

Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture

human disease

Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy

organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine

human disease

human disease

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss

disease

multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.

human disease

genetic disorder affecting the eyes and teeth

medical condition

metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism

autosomal recessive genetic disorder

human disease

infection of the brain caused by the Japanese encephalitis virus

autosomal dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid

human disease

Type of epilepsy