Rare Disease Library

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gerstmann syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Hinman syndrome

HAS · HS

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Lateral meningocele syndrome

Lehman syndrome

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Marfan syndrome

MFS

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Moebius syndrome

Möbius syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Moynahan syndrome

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

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

MARCH syndrome

Multiple synostoses syndrome

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

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome