Rare Disease Library

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

Urioste syndrome

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

TAFRO syndrome

Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Visceral heterotaxy

Heterotaxy syndrome · HTX

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Werner syndrome

Adult progeria · WS

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

Worster-Drought syndrome

Congenital suprabulbar paresis

X-linked severe syndromic thoracic aortic aneurysm and dissection

Meester-Loeys syndrome · X-linked severe syndromic TAAD

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome