Rare Disease Library

Vogt-Koyanagi-Harada disease

Uveomenigitic syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acropectorovertebral dysplasia

F syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

H syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

Keipert syndrome

Nasodigitoacoustic syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

MEND syndrome

Male EBP disorder with neurological defects

Menkes disease

Menkes kinky hair disease · MD

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Monosomy 9p syndrome

9p deletion syndrome · 9p- 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

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN 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

Triple A syndrome

2A syndrome · 3A syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

UV-sensitive syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome