Diseases

Name Orphanumber Description XREF(s)
Congenital contractural arachnodactyly 115 Congenital contractural arachnodactyly… Orphanet, MeSH, OMIM, ICD-10
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome 1154 An inherited developmental defect… Orphanet, ICD-10, OMIM
Progressive pseudorheumatoid arthropathy of childhood 1159 Progressive pseudorheumatoid… Orphanet, OMIM, MeSH, ICD-10
Beckwith-Wiedemann syndrome 116 Orphanet
NON RARE IN EUROPE: Asperger syndrome 1162 Orphanet
Ataxia-oculomotor apraxia type 1 1168 A rare autosomal recessive cerebellar… Orphanet, OMIM, ICD-10
Behçet disease 117 A rare, chronic, relapsing,… Orphanet, MeSH, MedDRA, ICD-10, OMIM
Autosomal recessive cerebelloparenchymal disorder type 3 1170 The disorders involving primarily the… Orphanet, OMIM, ICD-10
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1171 A rare autosomal dominant neurological… Orphanet, ICD-10, OMIM
Cerebellar ataxia-hypogonadism syndrome 1173 Cerebellar ataxia-hypogonadism syndrome… Orphanet, OMIM, OMIM, ICD-10
X-linked progressive cerebellar ataxia 1175 A rare X-linked cerebellar ataxia,… Orphanet, OMIM, ICD-10, OMIM
Beta-mannosidosis 118 Beta-mannosidosis is a very rare… Orphanet, MeSH, ICD-10, OMIM
Ataxia-hypogonadism-choroidal dystrophy syndrome 1180 A very rare autosomal recessive, slowly… Orphanet, OMIM, ICD-10
Infantile-onset spinocerebellar ataxia 1186 Infantile-onset spinocerebellar ataxia… Orphanet, ICD-10, MeSH, OMIM
Lethal ataxia with deafness and optic atrophy 1187 Lethal ataxia with deafness and optic… Orphanet, MeSH, ICD-10, OMIM
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 119 A subtype of autosomal recessive limb… Orphanet, ICD-10, OMIM
Atelosteogenesis type I 1190 A Pierre Robin syndrome associated with… Orphanet, MeSH, OMIM, ICD-10
TMEM70-related mitochondrial encephalo-cardio-myopathy 1194 Mitochondrial encephalo-cardio-myopathy… Orphanet, ICD-10, OMIM
Congenital atransferrinemia 1195 Congenital atransferrinemia is a very… Orphanet, OMIM, MeSH, ICD-10
Burn-McKeown syndrome 1200 A rare multiple congenital anomaly… Orphanet, MeSH, ICD-10, OMIM, OMIM
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