Rare Disease Library

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Atypical Timothy syndrome

ATS · Atypical LQT8

Atypical Werner syndrome

Atypical progeroid syndrome

DICER1 tumor-predisposition syndrome

PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Familial advanced sleep-phase syndrome

FASPS

Familial articular hypermobility syndrome

Familial joint instability syndrome · Familial joint laxity

Familial chylomicronemia syndrome

Familial cold urticaria

FCAS · FCU

Familial episodic pain syndrome

FEPS

Familial monosomy 7 syndrome

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial scaphocephaly syndrome

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

PLCG2-associated antibody deficiency and immune dysregulation

FACU · Familial atypical cold urticaria

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome