Rare Disease Library

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

46,XY difference of sex development of endocrine origin

46,XY DSD of endocrine origin · 46,XY disorder of sex development of endocrine origin

46,XY difference of sex development of gynecological interest

46,XY DSD of gynecological interest · 46,XY disorder of sex development of gynecological interest

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of gonadal development

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Acquired peripheral movement disorder

Acute infantile liver failure-multisystemic involvement syndrome

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency

Anomaly of puberty or/and menstrual cycle

Anomaly of puberty or/and menstrual cycle of genetic origin

Anonychia with flexural pigmentation

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

Anterior segment developmental anomaly

Anterior segment dysgenesis

Anterior segment developmental anomaly of genetic origin

Anterior segment developmental anomaly with extraocular manifestations

Anterior segment developmental anomaly without extraocular manifestations

Anti-glomerular basement membrane disease

Anti-GBM syndrome

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

Autoimmune disease with skin involvement

Autoinflammatory syndrome with skin involvement

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant MSMD due to a partial deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant MSMD due to partial IFNgammaR1 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant MSMD due to partial IFNgammaR2 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal dominant rhegmatogenous retinal detachment

Autosomal recessive anterior segment dysgenesis

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive MSMD due to partial IFNgammaR1 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal recessive MSMD due to partial IFNgammaR2 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency

Behavioral variant of frontotemporal dementia

bv-FTD

Bilateral acute depigmentation of the iris

BADI

Brachydactyly-short stature-retinitis pigmentosa syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

Cerebral visual impairment

Cortical visual impairment

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Childhood-onset benign chorea with striatal involvement