Rare Disease Library

Biotin-thiamine-responsive basal ganglia disease

BBGD · BTBGD

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Brain dopamine-serotonin vesicular transport disease

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Bronchiolitis obliterans

Constrictive bronchiolitis · Obliterative bronchiolitis

CADINS disease

CARD11-associated atopy with dominant interference of NF-kB signaling syndrome

Calvarial doughnut lesions-bone fragility syndrome

Familial doughnut lesions of skull

Caribbean parkinsonism

Atypical parkinsonism in the Caribbean

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

CAGSSS

CELSR1-related late-onset primary lymphedema

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

Childhood-onset benign chorea with striatal involvement

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Childhood-onset epilepsy syndrome

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

CONDBA

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Christianson syndrome

X-linked Angelman-like syndrome

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

Chronic thromboembolic pulmonary hypertension

CTEPH

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Coloboma of eye lens

Combined immunodeficiency due to FOXN1 haploinsufficiency

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia · CID due to GINS1 deficiency

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Combined immunodeficiency with low immunoglobulins and normal B cells

CID with low Ig and normal B cells · Combined immunodeficiency low Ig and normal B cells

Combined immunodeficiency with normal Ig and poor specific antibody response

CID with normal Ig and poor specific antibody response · Combined immunodeficiency with normal immunoglobulins and poor specific antibody response

Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations

CVID phenotype due to germinal digenic/polygenic mutations

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Common variable immunodeficiency phenotype due to somatic mutations

CVID phenotype due to somatic mutations

Complete androgen insensitivity syndrome

CAIS · Complete androgen resistance syndrome