rare disease
disease that affects a small percentage of the population
Creutzfeldt-Jakob disease
degenerative neurological disorder
medullary sponge kidney
congenital disorder of urinary system
cone dystrophy
inherited ocular disorder characterized by the loss of cone cells
sickle-cell disease
group of genetic blood disorders
Marfan syndrome
genetic disorder of the connective tissue
Bruton-type agammaglobulinemia
human disease
microcephaly
medical condition in which the brain does not develop properly resulting in a smaller than normal head
congenital insensitivity to pain with anhidrosis
rare disease
metabolic syndrome
disease diagnosed by a cluster of at least 3 out of the following conditions: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, low serum high-density lipoprotein
Sneddon syndrome
form of arteriopathy
dopamine-responsive dystonia
genetic movement disorder
Treacher Collins syndrome
human genetic disorder
glycogen storage disease IV
human disease
Barth syndrome
lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin
primary polydipsia
dry mouth and excessive fluid consumption in the absence of physiological stimuli to drink with physiological suppression of arginine-vasopressin secretion or a decrease in the sensitivity threshold of osmoreceptors (thirst center)
congenital central hypoventilation syndrome
Human disease
CHARGE syndrome
syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
Watson syndrome
medical condition
Crigler-Najjar syndrome
bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)
hemolytic anemia
form of anemia due to hemolysis
DOOR 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
Naxos disease
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
empty sella syndrome
endocrine disease
Epstein syndrome
disease
Tangier disease
extremely rare inherited human disorder
Kabuki syndrome
rare disease
sick sinus syndrome
group of abnormal heart rhythms (arrhythmias) presumably caused by a malfunction of the sinus node, the heart's primary pacemaker
moya moya disease
cerebral arterial disease characterized by constriction of certain arteries at the base of the brain; blood flow is blocked by the constriction and also by blood clots
Paget's disease of bone
bone formation disease that has material basis in hyperactive osteoclast which results in abnormal osteoblast bone formation located in skull, located in pelvis, located in vertebral column, located in set of limbs
cholesterol ester storage disease
lysosomal storage disease
distal renal tubular acidosis
medical condition
Machado-Joseph disease
autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene
X-linked dystonia-parkinsonism
focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1
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
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
lethality and affected fetuses are considered as nonviable
lamellar ichthyosis
disease
Laurence-Moon syndrome
rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities
Weaver syndrome
human disease
Senior-Loken syndrome
autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease
acute fatty liver of pregnancy
medical condition
alopecia universalis
human disease
Bart syndrome
human disease
Bjornstad syndrome
Human disease
Brunner Syndrome
amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has material basis in mutation in the MAOA gene on chromosome location Xp11
congenital fibrosis of the extraocular muscles
ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position
Carvajal syndrome
autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24
cyclic hematopoiesis
Human disease
Familial British dementia
medical condition