Rare Disease Library

TSH-secreting pituitary adenoma

Pituitary thyrotrophic adenoma · TSH-oma

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

Human prion disease

TSE · Transmissible spongiform encephalopathy

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

Scrub typhus

Tsutsugamushi disease · Tsutsugamushi fever

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

Timothy syndrome type 1

TS1 · LQT8 type 1

Timothy syndrome type 2

TS2 · LQT8 type 2

Tropical spastic paraparesis

HAM/TSP · HTLV-1-associated myelopathy/tropical spastic paraparesis

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Adenovirus infection in immunocompromised patients

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Aortic arch defects

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Poretti-Boltshauser syndrome

Atrial septal defect-atrioventricular conduction defects syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal recessive hypophosphatemic rickets

ARHR

Autosomal thrombocytopenia with normal platelets

Baraitser-Winter cerebrofrontofacial syndrome

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Stratton-Garcia-Young syndrome

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

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

CDK13-related disorder

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

CADASIL · Hereditary multi-infarct dementia

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Cerebral gigantism-jaw cysts syndrome

Cramer-Niederdellmann syndrome

Clark-Baraitser syndrome

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

Coats plus syndrome

CRMCC · Cerebroretinal microangiopathy with calcifications and cysts

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital myopathy with excess of thin filaments

Actin myopathy

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Cysts and fistulae of the face and oral cavity

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

CMV disease in patients with impaired cell mediated immunity deemed at risk

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

Dysostosis with combined reduction defects of upper and lower limbs

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Kozlowski-Tsuruta syndrome

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Eye defects-arachnodactyly-cardiopathy syndrome

Al Gazali-Al Talabani syndrome · Al Gazali-Lytle syndrome

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia