Rare Disease Library

Isolated congenital onychodysplasia

COIF · COIF syndrome

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Jawad syndrome

Jeune syndrome

Asphyxiating thoracic dystrophy of the newborn · JATD

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

Jung syndrome

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

Diets-Jongmans Syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

L1 syndrome

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

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Menkes disease

Menkes kinky hair disease · MD

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Multiple endocrine neoplasia type 1

MEN1 · Wermer 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

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser 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

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

Pyknoachondrogenesis

Camera syndrome

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

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

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31