Rare Disease Library

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

H syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hurler syndrome

Hurler disease · MPS1H

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

Hydrocephaly-low insertion umbilicus syndrome

Palmer-Pagon syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

KID syndrome

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

L1 syndrome

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

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

Marden-Walker syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

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

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

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

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

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

5q- syndrome · MDS

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nelson syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser 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

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7