Rare Disease Library

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Dahlberg-Borer-Newcomer syndrome

Lymphedema-hypoparathyroidism syndrome · Dahlberg syndrome

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Hall-Riggs syndrome

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Rudiger syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome