Rare Disease Library

TMEM165-CDG

Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

Torpedo Maculopathy

Solitary hypopigmented nevus of the retinal pigment epithelium · TM

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

TMEM147-related neurodevelopmental disorder

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

TM2D3-related neurodevelopmental disorder

Severe primary trimethylaminuria

TMAU

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

Thrombotic microangiopathy

TMA

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

Transient myeloproliferative syndrome

TMD · Transient abnormal myelopoiesis

Gerstmann syndrome

Gerstmann-Straussler-Scheinker syndrome

Subacute spongiform encephalopathy, Gerstmann-Straussler type

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Neonatal compartment syndrome

Neonatal Volkmann ischemic contracture syndrome · Congenital Volkmann ischemic contracture syndrome

Off-periods in Parkinson disease not responding to oral treatment

Periodic paralysis with transient compartment-like syndrome

Post 5-alpha-reductase inhibitors treatment syndrome