Syndromes

condition of pain in a lost eye

medical condition

Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis

disease

dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12

human disease

congenital disorder of nervous system

Human disease

form of arteriopathy

medical sign

monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form

circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma

medical condition

Tracheobronchomegaly is a rare lung condition characterised by abnormal widening of the trachea and main bronchi, typically presenting with no symptoms, or a long-standing cough or recurrent chest infections. There may be copious purulent sputum production, eventually leading to bronchiectasis and other respiratory complications.

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia

human disease

skin condition characterized by spontaneous focal hemorrhage into the palm or the volar surface of a finger

medical condition

Human disease

people with this hereditary condition have a double row of eyelashes,

human disease

psychological condition related to the Antarctic winter

disease

type of visual impairment

uncommon congenital vascular malformation (CVM) characterized by the venous malformations, cutaneous capillary malformations, and lymphatic malformations along with arteriovenous malformation.

skin condition

characterized by low levels of that hormone in polar explorers

chronic pain condition

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth

voice disorder caused by abuse or overuse of the vocal cords

medical condition

MPS - I H/S: cutaneous condition, also characterized by mild mental retardation and corneal clouding

medical condition

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)

intersex variation where one has no response to androgens and is born with a vulva and clitoris

3MC congenital syndrome associated with the COLEC10 gene on chromosome 8q24

Rare X-linked recessive genetic syndrome

disease

medical condition

Alphanumeric list of syndromes

Very rare genetic disease involving ocular abnormalities and cardiac abnormalities.

medical condition

primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation

medical condition

jealousy towards a partner's ex

medical condition

medical condition characterized by abnormal gait and severe learning difficulties

medical condition in which damage to the anterior interosseous nerve causes pain in the forearm and a characteristic weakness of the pincer movement of the thumb and index finger.

lymphoproliferative disorder

medical condition