TUBB1 - tubulin beta 1 class VI Gene

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

MACTHC1

MAD-TUBB1

Fechtner Syndrome

May-Hegglin Anomaly

Sebastian Syndrome

Epstein Syndrome

Macrothrombocytopenia With Leukocyte Inclusions

Myh9-Related Disorder

Macrothrombocytopenia And Progressive Sensorineural Deafness

MATINS

Bdplt6

Mha

Dohle Leukocyte Inclusions With Giant Platelets

Giant Platelet Syndrome With Thrombocytopenia

Sbs

Sebastian Platelet Syndrome

Epstns

Ftns

Bleeding Disorder, Platelet-Type, 6

Macrothrombocytopenia With Dispersed Leukocytic Inclusions

Macrothrombocytopenia, Nephritis, And Deafness

Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions

Alport Syndrome With Macrothrombocytopenia, Formerly

Apsm, Formerly

Myh9 Related Thrombocytopenia

Myh9 Related Disorders

Myh9-Rd

Myh9-Related Disease

Myh9-Related Syndrome

Myh9-Related Syndromic Thrombocytopenia

Autosomal Dominant Myh9 Spectrum Disorders

Myh9-Related Macrothrombocytopenias

Myh9rd

Alport Syndrome, With Macrothrombocytopenia

Bleeding Disorder Platelet-Type 6

Macrothrombocytopathy, Nephritis, And Deafness

Macrothrombocytopathy-Nephritis-Deafness

Mpsd

Epsteins Syndrome

May-Hegglin Disorder

Macrothrombocytopenia, Granulocyte Inclusions With/Without Nephritis Or Sensorineural Hearing Loss

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Fibrosis Of Extraocular Muscles, Congenital, 3b

CFEOM1

Blepharoptosis With Absent Eye Movements

Congenital Fibrosis Of The Extraocular Muscles 1

Congenital Fibrosis Of Extraocular Muscles Type 1

Fibrosis

Ophthalmoplegia, Congenital

Feom1 Locus

Congenital Ophthalmoplegia

Feom1

CFEOM3B

Fibrosis, Extraocular Muscles, Congenital, Type 1

Congenital Fibrosis Of The Extraocular Muscles

Mitochondrial Complex V Deficiency

MC5DN5

Mitochondrial Complex V Deficiency, Atp5f1d Type

Mitochondrial Complex V Deficiency

Mitochondrial Complex 5 Deficiency Nuclear Type 5

Complex 5 Mitochondrial Respiratory Chain Deficiency

Atp Synthase Deficiency

Mitochondrial Complex V Deficiency, Nuclear Type 5

Complex V Deficiency

BSSA2

Bernard-Soulier Syndrome Type A2

Bernard-Soulier Syndrome, Type A2

Bernard-Soulier Syndrome A2, Autosomal Dominant

Autosomal Dominant Benign Bernard-Soulier Syndrome

Benign Mediterranean Macrothrombocytopenia

Bernard-Soulier Syndrome, Benign Autosomal Dominant

Congenital Amegakaryocytic Thrombocytopenia

CAMT

Thrombocytopenia, Congenital Amegakaryocytic

Congenital Amegakaryocytic Thrombocytopenic Purpura

Thrombocytopenia Congenital Amegakaryocytic

Thrombocytopenia, Amegakaryocytic, Congenital

Myh9-Related Disease

Myh9-Rd

Myh9-Related Disorder

Myh9-Related Syndrome

Myh9-Related Syndromic Thrombocytopenia

Sebastian Syndrome

Giant Platelet Syndrome

BSS

Von Willebrand Factor Receptor Deficiency

Bdplt1

Platelet Glycoprotein Ib Deficiency

Bernard-Soulier Syndrome, Type A1

Bernard-Soulier Syndrome, Type B

Bernard Soulier Syndrome

Deficiency Of Platelet Glycoprotein 1b

Hemorrhagiparous Thrombocytic Dystrophy

Bernard-Soulier Syndrome Type C

Bleeding Disorder, Platelet-Type, 1

Glycoprotein Ib, Platelet, Deficiency Of

Giant Platelet Disorder, Isolated

Giant Platelet Disease

Macrothrombocytopenia, Familial Bernard-Soulier Type

Bernard-Soulier Syndrome, Type C

Bernard - Soulier Thrombopathy

Hemorrhagic Dystrophic Thrombocytopenia

Thrombopathy, Bernard-Soulier

Platelet Glycoprotein 1b, Deficiency Of

Hemorrhagioparous Thrombocytic Dystrophy

Bernard-Soulier Syndrome Type A1

Bernard-Soulier Syndrome Type B

Bleeding Disorder Platelet-Type 1

Gpd

Macrothrombocytopenia, Familial, Bernard-Soulier Type

Postoperative Hypothyroidism

Post-Surgical Hypothyroidism

Thrombocytopathy, Asplenia, And Miosis

Stormorken-Sjaastad-Langslet Syndrome

STRMK

York Platelet Syndrome

Yps

Thrombocytopathy, Asplenia And Miosis

Thrombocytopathy Asplenia Miosis

Thrombocytopathy-Asplenia-Miosis Syndrome

Miosis Disorder

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis