Rare Disease Library

Marshall syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple endocrine neoplasia type 2A

MEN2A · PTC 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

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

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

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Progressive supranuclear palsy

PSP syndrome

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

Pyknoachondrogenesis

Camera syndrome

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Rowell 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

Severe dermatitis-multiple allergies-metabolic wasting syndrome

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

Sézary syndrome

Sézary lymphoma

Sheldon-Hall syndrome

SSH · DA2B

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome