genetic disease
health problem caused by one or more abnormalities in the genome
epidermoid cyst
human disease
congenital insensitivity to pain with anhidrosis
rare disease
genetic predisposition
genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population
halo nevus
human disease
congenital central hypoventilation syndrome
Human disease
Pfeiffer syndrome
acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull
copper toxicosis
dog disease
lentigo
medical condition
specific phobia
phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations
imperforate hymen
human disease
pulmonary atresia
type of congenital heart defect
purine nucleoside phosphorylase deficiency
combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function
enterocolitis
inflammatory process affecting the small intestine and colon, possible causes being viruses, bacteria, radiation, and antibiotic use
Tooth fusion
human disease
chromosomal disease
genetic disease that has material basis in extra, missing, or re-arranged chromosomes
axial osteomalacia
osteosclerosis that results in coarsening located in trabecular bone
Bart syndrome
human disease
Knuckle pads
human disease
ulnar-mammary syndrome
skin condition characterized by underdevelopment of the apocrine and mammary glands which can cause various nipple, breast and genital abnormalities, and abnormal development of fingers and forearms
ulnar-mammary syndrome
skin condition characterized by underdevelopment of the apocrine and mammary glands which can cause various nipple, breast and genital abnormalities, and abnormal development of fingers and forearms
Genetics of infertility
Genetic infertility
cocoon syndrome
human disease
rigid spine syndrome
human disease
even-plus syndrome
human disease
Tourette syndrome
neurodevelopmental condition
histoplasmosis
human disease
asplenia with cardiovascular anomalies
rare disease
Baker's cyst
human disease
congenital heart disease
cardiovascular disease
gastric mucosal hypertrophy
human disease
inherited tumor
human disease
Contiguous gene syndrome
Combined clinical phenotype caused by each missing gene in a chromosomal deletion
Cornelia de Lange syndrome
genetic disease
familial Mediterranean fever
Human disease
Pitt-Hopkins syndrome
rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea
Darwin's tubercle
congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds
inverted nipple
nipples turned inside the breast
aspirin-exacerbated respiratory disease
human disease
deafness dystonia syndrome
mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems
corneal opacification and other ocular anomalies
sclerocornea that has material basis in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis
speech sound disorder
neurodevelopmental condition
combined immunodeficiency
primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity
cortical hyperostosis
Human disease
ossification of the posterior longitudinal ligament
connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia
Pretzel syndrome
human disease
alcohol intolerance
medical condition
Martinez-Frias syndrome
human disease