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Syndrome
Subclasses
Ciliopathy
? TBD
Genetic disease resulting in abnormal formation or function of cilia
VLDLR-associated cerebellar hypoplasia
? TBD
Medical condition
psychopathological syndrome
? TBD
constellation of signs and symptoms that together make up a recognisable mental disorder
Cystic fibrosis
? TBD
Genetic disorder inhibiting clearance of mucus from the lungs
Alström syndrome
? TBD
Rare genetic disorder involving childhood obesity and multiple organ dysfunction
Tuberous sclerosis
? TBD
Genetic condition causing non-cancerous tumours
Fragile X syndrome
? TBD
X-linked dominant genetic disorder
Takayasu's arteritis
? TBD
Medical condition
Prader–Willi syndrome
? TBD
Genetic disorder involving an imprinted genomic region
Progeria
? TBD
Genetic disorder that causes early aging
Cohen syndrome
? TBD
scientific article published on 01 May 1993
Irritable bowel syndrome
? TBD
Functional gastrointestinal disorder
Smith–Lemli–Opitz syndrome
? TBD
Recessive genetic condition
Xeroderma pigmentosum
? TBD
Medical condition
Nevoid basal-cell carcinoma syndrome
? TBD
Medical condition
Williams syndrome
? TBD
Genetic disorder
MECP2 duplication syndrome
? TBD
Medical condition
DiGeorge syndrome
? TBD
Medical condition caused by chromosomal abnormality
Norrie disease
? TBD
Genetic disorder that primarily affects the eye
Alport syndrome
? TBD
Medical condition
Treacher Collins syndrome
? TBD
Human genetic disorder
Howel–Evans syndrome
? TBD
Medical condition
nephrogenic syndrome of inappropriate antidiuresis
? TBD
Psoriatic arthritis
? TBD
Long-term inflammatory arthritis
idiopathic pulmonary arterial hypertension
? TBD
Multicentric reticulohistiocytosis
? TBD
Medical condition
designated intractable/rare disease
? TBD
disease/syndrome specified according to Japanese law
Cornelia de Lange syndrome
? TBD
Medical condition
Wolfram syndrome
? TBD
Human disease
SIDS
? TBD
Sudden unexplained death of a child who is less than one year of age