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Rubinstein–Taybi syndrome
?
TBD
Rare genetic condition
Ciliopathy
?
TBD
Genetic disease resulting in abnormal formation or function of cilia
Perry syndrome
?
TBD
Human disease
VLDLR-associated cerebellar hypoplasia
?
TBD
Medical condition
MECP2 duplication syndrome
?
TBD
Medical condition
Urofacial syndrome
?
TBD
Medical condition
DiGeorge syndrome
?
TBD
Medical condition caused by chromosomal abnormality
Norrie disease
?
TBD
Genetic disorder that primarily affects the eye
Li–Fraumeni syndrome
?
TBD
Autosomal dominant cancer syndrome
Alport syndrome
?
TBD
Medical condition
Treacher Collins syndrome
?
TBD
Human genetic disorder
Howel–Evans syndrome
?
TBD
Medical condition
nephrogenic syndrome of inappropriate antidiuresis
?
TBD
Bruck syndrome
?
TBD
Medical condition
Mowat–Wilson syndrome
?
TBD
Rare autosomal dominant genetic disorder
Hereditary breast–ovarian cancer syndrome
?
TBD
Medical condition
Polyostotic fibrous dysplasia
?
TBD
Replacement of more than one bone with fibrous tissue
Malformative syndrome
?
TBD
Psoriatic arthritis
?
TBD
Long-term inflammatory arthritis
idiopathic pulmonary arterial hypertension
?
TBD
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