Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin |
|
Generalized ichthyosis |
OMIM:601039 |
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
ORPHA:281201 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Palmoplantar Keratoderma, Bothnian Type |
|
Diffuse palmoplantar hyperkeratosis |
OMIM:600231 |
Acanthosis Nigricans |
|
Acanthosis nigricans |
OMIM:100600 |
Palmoplantar Keratoderma, Punctate Type Ib |
|
Punctate palmoplantar hyperkeratosis |
OMIM:614936 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Ichthyosis Bullosa Of Siemens |
|
Congenital bullous ichthyosiform erythroderma |
OMIM:146800 |
Palmoplantar Keratoderma, Nonepidermolytic |
|
Nonepidermolytic palmoplantar hyperkeratosis |
OMIM:600962 |
Porokeratosis 6, Multiple Types |
|
Porokeratosis |
OMIM:612353 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Porokeratosis 9, Multiple Types |
|
Porokeratosis |
OMIM:616631 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Patchy palmoplantar hyperkeratosis |
OMIM:616400 |
Palmoplantar Keratoderma, Punctate Type Ii |
|
Porokeratosis, Spinous keratoses of palms and soles |
OMIM:175860 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Porokeratosis 8, Disseminated Superficial Actinic Type |
|
Porokeratosis |
OMIM:616063 |
Self-Improving Collodion Baby |
|
Ichthyosis |
ORPHA:281122 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Cataract And Congenital Ichthyosis |
|
Congenital ichthyosiform erythroderma |
OMIM:212400 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis |
ORPHA:737 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Ichthyosis-Hypotrichosis Syndrome |
|
Ichthyosis |
ORPHA:91132 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:79503 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Punctate palmar hyperkeratosis |
OMIM:106400 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis |
OMIM:131850 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Acanthosis nigricans |
OMIM:200170 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:607936 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:617525 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... |
ORPHA:79395 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma |
ORPHA:312 |
Verrucous Hemangioma |
|
Hyperkeratotic papule |
ORPHA:464318 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis |
OMIM:212360 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis |
ORPHA:505 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... |
OMIM:607602 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma |
ORPHA:498359 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis |
OMIM:615023 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:602540 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Acquired Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:3406 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop... |
OMIM:614594 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma |
OMIM:615735 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
Bazex Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
ORPHA:166113 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Congenital non... |
OMIM:242300 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Lymphopenia, Thrombocytosis, Anemia |
OMIM:615934 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform e... |
ORPHA:100976 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,... |
OMIM:242100 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:816 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Leukocytosis, Thrombocytosis, Anemia |
ORPHA:20 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis |
ORPHA:134 |
Erythrokeratodermia Variabilis |
|
Hyperkeratosis, Patchy palmoplantar hyperkeratosis |
ORPHA:317 |
Hypotrichosis 6 |
|
Follicular hyperkeratosis |
OMIM:607903 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis |
ORPHA:89843 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia |
ORPHA:2905 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Follicular hyperkeratosis |
OMIM:615147 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis |
ORPHA:254478 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop... |
OMIM:615688 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:224750 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis |
OMIM:616295 |
Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis |
OMIM:618527 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:614457 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis |
OMIM:615726 |
Chilblain Lupus |
|
Hyperkeratosis |
ORPHA:90280 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Classic Mycosis Fungoides |
|
Hyperkeratosis |
ORPHA:2584 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis |
ORPHA:83453 |
Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Parakeratosis |
ORPHA:90368 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Palmoplantar hyperkeratosis |
ORPHA:158681 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Epidermal hyperkeratosis |
OMIM:613707 |
Brucellosis |
|
Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia |
ORPHA:1304 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Ichthyosis |
OMIM:612379 |
Lichen Planopilaris |
|
Hyperkeratosis |
ORPHA:525 |
Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin |
ORPHA:530 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis |
OMIM:615508 |
Lamellar Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:313 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Pachyonychia Congenita |
|
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h... |
ORPHA:2309 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Generalized ichthyosis |
ORPHA:2269 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:308800 |
Dowling-Degos Disease |
|
Hyperkeratosis, Hyperkeratotic papule |
ORPHA:79145 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis |
ORPHA:1028 |
Chromomycosis |
|
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule |
ORPHA:182 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis |
ORPHA:486815 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis |
ORPHA:36386 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis |
OMIM:617337 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Noonan Syndrome 8 |
|
Hyperkeratosis |
OMIM:615355 |
Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Parakeratosis |
ORPHA:398124 |
Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis |
OMIM:613102 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis |
OMIM:246200 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Milroy Disease |
|
Hyperkeratosis |
ORPHA:79452 |
Poikiloderma With Neutropenia |
|
Hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma |
OMIM:604173 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Ichthyosis |
OMIM:610768 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis |
OMIM:614576 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:1005 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Parakeratosis, Ichthyosis |
OMIM:607626 |
Costello Syndrome |
|
Acanthosis nigricans, Hyperkeratosis |
ORPHA:3071 |
Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis |
OMIM:609180 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ... |
OMIM:257980 |
Netherton Syndrome |
|
Parakeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:256500 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis |
ORPHA:64745 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Prolidase Deficiency |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:742 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:608013 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis |
ORPHA:284426 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis |
ORPHA:1806 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Hyperkeratosis, Ichthyosis |
OMIM:148210 |
Psoriasis 14, Pustular |
|
Parakeratosis |
OMIM:614204 |
Acute Radiation Syndrome |
|
Hyperkeratosis |
ORPHA:454831 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis |
OMIM:301220 |
Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:601675 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hyperkeratosis |
OMIM:612852 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Congenital ichthyosiform erythroderma |
OMIM:308050 |
Werner Syndrome |
|
Hyperkeratosis |
ORPHA:902 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis |
OMIM:601812 |
Cardiofaciocutaneous Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:1340 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperkeratosis, Ichthyosis |
OMIM:115150 |
Chronic Mucocutaneous Candidiasis |
|
Hyperkeratosis |
ORPHA:1334 |
Mycetoma |
|
Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis |
OMIM:617052 |
Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Epidermal hyperkeratosis |
OMIM:137940 |
Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis |
ORPHA:238468 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
Meige Disease |
|
Cobblestone-like hyperkeratosis |
ORPHA:90186 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:79430 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis |
OMIM:601701 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Noonan Syndrome 10 |
|
Hyperkeratosis |
OMIM:616564 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperkeratosis, Ichthyosis |
OMIM:607721 |
Incontinentia Pigmenti |
|
Hyperkeratosis |
ORPHA:464 |
Noonan Syndrome 2 |
|
Hyperkeratosis |
OMIM:605275 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
Chime Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:3474 |
Incontinentia Pigmenti |
|
Hyperkeratosis |
OMIM:308300 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Thickened skin |
ORPHA:910 |
Kid Syndrome |
|
Congenital ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosis |
ORPHA:477 |
Mucoepithelial Dysplasia, Hereditary |
|
Follicular hyperkeratosis |
OMIM:158310 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hyperkeratosis, Ichthyosis |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:363958 |
Reactive Arthritis |
|
Hyperkeratosis |
ORPHA:29207 |
Eec Syndrome |
|
Hyperkeratosis |
ORPHA:1896 |
Leprechaunism |
|
Acanthosis nigricans, Thickened skin, Hyperkeratosis |
ORPHA:508 |
Kindler Epidermolysis Bullosa |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2908 |
Lymphatic Filariasis |
|
Hyperkeratosis |
ORPHA:2035 |
Ramon Syndrome |
|
Hyperkeratosis |
OMIM:266270 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis |
OMIM:278800 |
Fabry Disease |
|
Hyperkeratosis |
ORPHA:324 |
Kanzaki Disease |
|
Hyperkeratosis |
OMIM:609242 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Follicular hyperkeratosis |
OMIM:614557 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis |
ORPHA:75857 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin |
ORPHA:73223 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Follicular hyperkeratosis |
OMIM:225400 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Follicular hyperkeratosis |
ORPHA:158668 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Hyperkeratosis, Follicular hyperkeratosis |
OMIM:308205 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hyperkeratosis |
OMIM:604292 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hyperkeratosis |
OMIM:129900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperkeratosis |
OMIM:210710 |
Atypical Werner Syndrome |
|
Hyperkeratosis |
ORPHA:79474 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis |
ORPHA:276280 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:2273 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Follicular hyperkeratosis |
ORPHA:536545 |
Leprosy |
|
Hyperkeratosis |
ORPHA:548 |
Restrictive Dermopathy |
|
Generalized hyperkeratosis, Epidermal hyperkeratosis |
ORPHA:1662 |
Warburg-Cinotti Syndrome |
|
Follicular hyperkeratosis |
OMIM:618175 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis |
ORPHA:83617 |
Restrictive Dermopathy 1 |
|
Epidermal hyperkeratosis |
OMIM:275210 |
Proteus Syndrome |
|
Thickened skin, Generalized hyperkeratosis |
ORPHA:744 |