Diseases

Name Orphanumber Description XREF(s)
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 592570 A rare multiple congenital anomalies/… Orphanet
Transaldolase deficiency 101028 Transaldolase deficiency is an inborn… Orphanet, ICD-10, OMIM
Transcobalamin deficiency 859 Transcobalamin deficiency (TC) is a… Orphanet, ICD-10, OMIM
Transient familial neonatal hyperbilirubinemia 2312 A rare genetic hepatic disease… Orphanet, OMIM, ICD-10
Transient infantile hypertriglyceridemia and hepatosteatosis 300293 Transient infantile… Orphanet, OMIM, ICD-10, OMIM
Transient myeloproliferative syndrome 420611 A rare hematologic disease… Orphanet, ICD-10, OMIM
Transient neonatal diabetes mellitus 99886 Transient neonatal diabetes mellitus (… Orphanet, OMIM, OMIM, OMIM, ICD-10
Transketolase deficiency 488618 A rare disorder of pentose phosphate… Orphanet, ICD-10, OMIM
TRAPPC11-related limb-girdle muscular dystrophy R18 369840 A form of limb-girdle muscular… Orphanet, ICD-10, OMIM
Treacher-Collins syndrome 861 A rare genetic mandibulofacial… Orphanet, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM
Trehalase deficiency 103909 A rare, genetic, intestinal disease… Orphanet, ICD-10, OMIM
Tremor-ataxia-central hypomyelination syndrome 447896 Orphanet, ICD-10, OMIM
Tricho-dento-osseous syndrome 3352 Tricho-dento-osseous dysplasia (TDO)… Orphanet, OMIM, MeSH, ICD-10
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 3363 Trichomegaly-retina pigmentary… Orphanet, ICD-10, OMIM
Trichorhinophalangeal syndrome type 1 77258 A rare multiple congenital anomalies… Orphanet, ICD-10, OMIM, OMIM
Trichorhinophalangeal syndrome type 2 502 A rare multiple congenital anomalies… Orphanet, MeSH, MeSH, MedDRA, OMIM, ICD-10
Trichothiodystrophy 33364 A rare, genetic, syndromic hair shaft… Orphanet, OMIM, OMIM, OMIM, OMIM, MeSH, MedDRA, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM
TRIM32-related limb-girdle muscular dystrophy R8 1878 A mild subtype of autosomal recessive… Orphanet, ICD-10, OMIM
Triose phosphate-isomerase deficiency 868 Triosephosphate isomerase (TPI)… Orphanet, OMIM, ICD-10
Triphalangeal thumb-polysyndactyly syndrome 2950 Triphalangeal thumb-polysyndactyly… Orphanet, ICD-10, MeSH, OMIM
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