Rare Disease Library

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

H syndrome

Heart-hand syndrome

Atriodigital dysplasia

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

N syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Reye syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Thoracolaryngopelvic dysplasia

Barnes syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Trisomy 13 syndrome

Patau syndrome

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

W syndrome

Pallister-W syndrome

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome