Gene Summary

tetratricopeptide repeat domain 7
1700007L07Rik,  hea,  1110035E02Rik,  fsn

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ttc7em1(IMPC)J HOM   Early adult 0.00
abnormal vocalization Ttc7em1(IMPC)J HET Early adult 2.37×10-10
decreased grip strength Ttc7em1(IMPC)J HET Early adult 3.97×10-08
abnormal coat/ hair morphology Ttc7em1(IMPC)J HET Early adult 2.19×10-05
increased total body fat amount Ttc7em1(IMPC)J HET Early adult 3.04×10-05
abnormal coat/hair pigmentation Ttc7em1(IMPC)J HET   Early adult 3.93×10-08
decreased lean body mass Ttc7em1(IMPC)J HET Early adult 2.87×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Ttc7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ttc7 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Ventricular septal defect, Interface hepatitis, Hypoplasia of the thymus... OMIM:243150
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Ventricular septal defect, Alopecia of scalp, Peritoneal abscess, Hypopl... ORPHA:436252
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300

The table below shows human diseases predicted to be associated to Ttc7 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Familial Adenomatous Polyposis 4
Astrocytoma, Papilloma, Stomach cancer, Thyroid adenoma OMIM:617100
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Hepatomegaly, Prolonged neonatal jaundice, Increased urine harderoporphyrin level, Hyperpigmentat... OMIM:618892
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Gastric Cancer
Stomach cancer OMIM:613659
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia, Jaundice ORPHA:33574
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Parakeratosis, Hypergranulosis, Congenital no... ORPHA:79395
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Skin r... OMIM:618963
Bazex Syndrome
Acanthosis nigricans, Yellow nails, Nail dystrophy, Palmoplantar keratoderma, Anemia, Parakeratos... ORPHA:166113
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-... OMIM:300908
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Elevated hepatic transaminas... ORPHA:398124
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal absce... OMIM:618108
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Cholangitis, Sparse eyelashes, Alopecia, Parakeratosis, Jaundice, Orthokeratosis, T... OMIM:607626
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Diarrhea, Hematochezia ORPHA:160148
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Hemolytic Anemia, Congenital, X-Linked
Dark urine, Hemolytic anemia, Jaundice OMIM:301015
Orotic Aciduria
Hypochromia, Oroticaciduria, Failure to thrive, Hematuria, Orotic acid crystalluria, Anisocytosis... OMIM:258900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Lymphoprolif... ORPHA:263665
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Orthokeratosis, Granulomatosis, Palmoplantar hyperkeratos... ORPHA:38
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased ... OMIM:611590
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Weight ... OMIM:209950
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly, Elevated hepatic transaminase, Pallor ORPHA:75563
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Cachexia, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... ORPHA:157798
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive m... ORPHA:2575
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Hypotrichosis Simplex Of The Scalp
Fine hair, Alopecia of scalp, Parakeratosis, Slow-growing scalp hair, Hyperkeratosis, Scaling ski... ORPHA:90368
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Psoriasis 14, Pustular
Geographic tongue, Leukocytosis, Cholangitis, Nail dystrophy, Erythema, Furrowed tongue, Parakera... OMIM:614204
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pa... OMIM:616959
Peeling Skin Syndrome 4
Nail dystrophy, Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling ski... OMIM:607936
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Acne, Arthritis, Hepatosplenomegaly, Microcytic a... OMIM:604416
Renal insufficiency, Abnormality of retinal pigmentation, Anemia ORPHA:655
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Erythema, Abnormal lymphocyte morphology, Alopecia, Splenomegaly, ... ORPHA:2584
Glycogen Storage Disease Vii
Cholelithiasis, Exercise-induced myoglobinuria, Reticulocytosis, Reduced erythrocyte 2,3-diphosph... OMIM:232800
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Absent pubic hair, Sparse e... ORPHA:2269
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Nail dystrophy, Parakeratosis, Congenital nonbullous ichthyosiform eryt... ORPHA:100976
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Stomach cancer, Neoplasm OMIM:137215
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... ORPHA:848
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
Mcleod Syndrome
Dilated cardiomyopathy, Acanthocytosis, Cardiomyopathy, Hepatosplenomegaly, Abnormal erythrocyte ... OMIM:300842
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Odontoonychodermal Dysplasia
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery... OMIM:257980
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythroder... OMIM:612281
Psoriasis 2
Scaling skin, Psoriasiform dermatitis, Epidermal acanthosis OMIM:602723
Anemia, Trimethylaminuria, Neutropenia, Splenomegaly OMIM:602079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Colorectal Cancer
Transitional cell carcinoma of the bladder, Neoplasm of the stomach, Hereditary nonpolyposis colo... OMIM:114500
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... ORPHA:288
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hematu... OMIM:614034
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Hepatomegaly, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Cardiomegaly, Anisocytosis, Poikilocyto... OMIM:618278
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Hep... ORPHA:231226
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... ORPHA:713
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Erythema, Concave nail, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis, Pal... ORPHA:530838
Netherton Syndrome
Abnormal intestine morphology, Villous atrophy, Failure to thrive, Brittle hair, Sparse scalp hai... OMIM:256500
Hereditary Spherocytosis
Hepatomegaly, Anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary he... ORPHA:822
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Splenomegaly ORPHA:2274
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Pachyonychia Congenita 4
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Bence Jones Proteinuria, Anemi... ORPHA:100024
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Nail dystrophy, Erythema, Palmoplantar keratoderma, Parakeratosis, Woolly... OMIM:615821
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Psoriasiform lesion, Elevated hepatic transaminase, Elevated creatine kinase after... ORPHA:284426
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair, Hyperkeratosis OMIM:300652
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis OMIM:617571
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Failure to thrive, Pappenheimer bodies, Sideroblastic anemia, Hypochromic ... OMIM:600462
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Acrokeratosis Verruciformis
Ridged nail, Acrokeratosis, Epidermal acanthosis, Hyperkeratosis OMIM:101900
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Hyperkeratos... OMIM:300918
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pal... ORPHA:231214
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ventricular septal defect, Acantholysis, Hypernatremia, Palmoplantar keratoderma, Pulmonic stenos... OMIM:615508
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... ORPHA:90033
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Chronic gastritis, Arthritis... OMIM:608809
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Alopecia, Anemia, Mal... ORPHA:100025
Chylomicron Retention Disease
Acanthocytosis, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosis, El... ORPHA:71
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Septic arthritis, Recurrent pneu... OMIM:617780
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal ph... OMIM:274150
Vulvovaginal Gingival Syndrome
Ridged nail, Epidermal acanthosis, Erythema, Parakeratosis ORPHA:83453
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Parakeratosis, Congeni... OMIM:601952
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Weight loss, Anemia, Splenomegaly, Abnor... ORPHA:507
Cole Disease
Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Sparse hair, Palmoplantar hyperkeratosis... OMIM:242300
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Spleno... OMIM:300635
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse axillary hair ORPHA:505
Olmsted Syndrome 2
Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperkeratosis, Al... OMIM:619208
Anonychia With Flexural Pigmentation
Alopecia of scalp, Abnormal hair morphology, Follicular hyperkeratosis, Hyperkeratosis, Anonychia ORPHA:69125
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia ORPHA:90036
Epidermolysis Bullosa Dystrophica, Pretibial
Nail dystrophy, Hyperkeratosis OMIM:131850
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Fanconi Anemia, Complementation Group G
Neutropenia, Leukemia, Anemia, Multiple cafe-au-lait spots, Thrombocytopenia OMIM:614082
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis, Epidermal acanthosis OMIM:148600
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis OMIM:113800
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Sclerodactyly, Nail dysplasia, Facial erythema, Hyperkeratosis,... OMIM:212360
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine... ORPHA:79501
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Failure to thrive, Nail dystrophy, Paratracheal ly... OMIM:615934
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis ORPHA:2297
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Decreased osteoclast count, Stillbirth, Splenomegaly, Hyperbilirubinemia, E... OMIM:259720
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Porphyria Cutanea Tarda
Increased serum iron, Hirsutism, Hypertrichosis, Elevated hepatic iron concentration, Increased f... ORPHA:101330
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca... OMIM:613313
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Palmoplantar keratoderma, Alopecia, Hypoplastic toenails, Abnormal finge... ORPHA:2722
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79503
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, F... OMIM:617514
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Thrombocythemia 2
Thrombocytosis OMIM:601977
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis OMIM:615598
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail dysplasia... OMIM:614594
Peeling Skin Syndrome 5
Epidermal acanthosis OMIM:617115
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to t... ORPHA:47
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae, Parakeratosis, Palmoplantar erythema, Facial erythema, Increased body weight, S... ORPHA:64745
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Porphyria, Acute Hepatic
Failure to thrive, Hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:612740
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Villous atrophy, Lymphadenopat... OMIM:606367
Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Hidrotic Ectodermal Dysplasia
Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker... ORPHA:189
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Cutis laxa, Microcytic anemia, Ichthyosis, Hyperkeratosis, Elevated hepatic trans... OMIM:612379
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Anuria, Hemolytic-uremic syndrome, Acute kidne... OMIM:235400
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Parakeratosis OMIM:148500
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia OMIM:616457
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphade... OMIM:304790
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Increased urinary porphobilinogen, Abnormal erythrocyte enzyme level... ORPHA:100924
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Ascites, Nephrotic syndrome, Neph... ORPHA:93552
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Weight loss, Erythema, Alopecia, Ab... ORPHA:317
Aicardi-Goutieres Syndrome 5
Dry skin, Thrombocytopenia, Scaling skin OMIM:612952
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... OMIM:259710
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Erythema, Hypergranulosis, Hyperkeratosis, Epidermal acanthosis OMIM:617525
Diamond-Blackfan Anemia 5
Hypospadias, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Reticulocytopenia OMIM:612528
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Acanthocytosis OMIM:200100
Parana Hard Skin Syndrome
Thickened skin, Generalized hirsutism, Hyperkeratosis ORPHA:2812
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... ORPHA:158061
Syndromic Diarrhea
Bicuspid aortic valve, Hypoplasia of the thymus, Brittle hair, Splenomegaly, Gastritis, Woolly ha... ORPHA:84064
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin, Failure to thrive, Hyperkeratosis OMIM:609180
Irida Syndrome
Abnormal intestine morphology, Ichthyosis, Hyperkeratosis, Intrahepatic cholestasis, Decreased ci... ORPHA:209981
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Ascites, Micropenis, Hepatosplenomegaly, Hemolytic anemia OMIM:600461
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Thickened skin, Abnormality of the live... ORPHA:79456
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Pallor, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in ... ORPHA:37042
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Purple urine, Red-brown urine, Hyperpigmentation of the skin, ... ORPHA:79277
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Thickened s... OMIM:603554
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Retinitis Pigmentosa 60
Pallor OMIM:613983
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice OMIM:234350
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cardiomyopathy, Cirrh... OMIM:604250
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Onycholysis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Epidermal acant... OMIM:616295
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Jaundice OMIM:268150
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Xerostomia, Arthriti... ORPHA:809
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, White hair, Silver-gray hair, Hepatitis, Bone... ORPHA:381
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Nail dystrophy, Palmoplantar keratoderma, Anemia, Scarring alopecia of scalp, Sparse b... ORPHA:79402
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia OMIM:610090
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Nail dystrophy, Orthokeratosis, Hyperkeratosis OMIM:617337
Thrombocytopenia, Acute kidney injury, Anemia ORPHA:673
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Epidermal acanthosis, Failure to thrive, Splenomegaly, Follicular hyperkeratosis, H... OMIM:617388
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Stomach canc... ORPHA:2930
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Ridged nail, Absent toenail, Failure to thrive, Abnormal toenail morphology, ... ORPHA:89838
Hepatomegaly, Ascites, Stomatitis, Acanthocytosis, Normochromic anemia, Weight loss, Neoplasm of ... ORPHA:97280
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Interstitial Lung And Liver Disease
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Failure to thrive, Anemia, Elevated gamma-glutamy... OMIM:615486
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Acanthosis nigricans, Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia ... ORPHA:59303
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Anemia, Renal insufficiency ORPHA:28
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Trichohepatoenteric Syndrome 1
Hypospadias, Brittle hair, Woolly hair, Sparse hair, Jaundice, Fine hair, Ventricular septal defe... OMIM:222470
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Porokeratosis Of Mibelli
Porokeratosis, Hyperkeratosis ORPHA:735
Porphyria, Congenital Erythropoietic
Pink urine, Hyperpigmentation of the skin, Cholelithiasis, Hypopigmentation of the skin, Splenome... OMIM:263700
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Stomatitis, Chronic hepatitis, Failure to thrive, Hepatitis, Absence o... OMIM:308230
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Porokeratosis 3, Multiple Types
Nail dystrophy, Porokeratosis, Parakeratosis OMIM:175900
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Elevated h... OMIM:607330
Acanthocytosis OMIM:200150
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Elevated 8(9)-cholestenol, Thyroid hypoplasia, Erythema, Alopecia, Single ventricle, Elevated 8-d... OMIM:308050
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Failure to thrive, Thickened skin, Abnormal lymphocy... ORPHA:39041
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Atrophic gastritis, ... ORPHA:227990
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:266900
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Short Stature With Microcephaly And Distinctive Facies
Spotty hypopigmentation, Anisopoikilocytosis, Small for gestational age, Anemia, Spotty hyperpigm... OMIM:615789
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Epidermal aca... OMIM:615225
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Sparse hair, Palmoplantar hyperkeratosis, Dystrophic fingernails OMIM:604536
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Nail dystrophy, Palmoplantar keratoderma, Abnormal lymphocyte morp... ORPHA:3162
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
Amme Complex
Elliptocytosis OMIM:300194
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Amed Syndrome, Digenic
Leukopenia, Failure to thrive, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia... OMIM:619151
Proteus Syndrome
Epidermal acanthosis, Lymphangioma, Splenomegaly, Hyperkeratosis OMIM:176920
Thrombocythemia 3
Thrombocytosis OMIM:614521
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar... OMIM:617294
Keratoconjunctivitis sicca, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Acanth... ORPHA:14
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... OMIM:608971
Poems Syndrome
Thrombocytosis, Increased circulating prolactin concentration, Hypertrichosis, Pericardial effusi... ORPHA:2905
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Decreased body weight, Neurogenic bladder ORPHA:96180
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Psoriasiform lesion, Lymphadenopathy, Failure to thrive, Alopecia, Decreased proport... ORPHA:169154
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Elevated cir... OMIM:613812
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Dry skin, Inflammation of the large intestine, Esophagea... OMIM:614576
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis, Erythema, Abnormal epidermal morphology ORPHA:79100
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Nail dystrophy, Alopecia, Palmoplantar keratosis with erythema an... OMIM:607655
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Perifollicular hyperkeratosi... OMIM:158000
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Anemia, Malabsorption, Aplasia/Hypoplasia of the thym... ORPHA:33355
Reynolds Syndrome
Keratoconjunctivitis sicca, Dysphagia, Infectious encephalitis, Abnormal gastric mucosa morpholog... ORPHA:779
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Sideroblastic... OMIM:616084
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema, Scleroderma, Morphea ORPHA:90158
Immunodeficiency 46
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Aganglionic megacolon, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, ... OMIM:308205
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine, Pigmentary retino... OMIM:266130
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Atrophic gastritis, ... ORPHA:227982
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Eczema, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, ... OMIM:615688
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Purple urine, Red-brown urine, Hyperpigmentation of the skin, Hypopigmenta... ORPHA:95159
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:454
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Anemia ORPHA:510
Muir-Torre Syndrome
Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm of the stomach, Endometrial c... ORPHA:587
Chilblain Lupus
Chronic myelomonocytic leukemia, Skin ulcer, Hyperkeratosis ORPHA:90280
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Thin nail, Palmoplantar keratoderma, Erythema, Alopecia, Hy... OMIM:242100
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:606996
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Stormorken-Sjaastad-Langslet Syndrome
Ichthyosis, Anemia, Purpura, Asplenia ORPHA:3204
Trichohepatoenteric Syndrome 2
Hepatomegaly, Sparse hair, Small for gestational age, Failure to thrive, Brittle hair, Hepatitis,... OMIM:614602
Optic Atrophy 9
Pallor OMIM:616289
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... ORPHA:1959
Majeed Syndrome
Erythroid hyperplasia, Failure to thrive, Hepatosplenomegaly, Microcytic anemia, Decreased mean c... OMIM:609628
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Failure to thrive, Splenomegaly OMIM:269840
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Elevated transferrin saturation, Cardiomyopathy, Cirrhosis, Increased circu... OMIM:606069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Ab... ORPHA:2199
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia OMIM:618165
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthem... ORPHA:781
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Anu... ORPHA:90038
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Portal fibrosis, Renal interstitial fibro... OMIM:619113
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Eleva... ORPHA:858
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hepatomegaly, Ascites, Pneumonia, Iron deficiency anemia OMIM:226300
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, Nodular regenerative hyperplasi... ORPHA:64743
Pili Torti-Onychodysplasia Syndrome
Cleft palate, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebrow,... ORPHA:2890
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Fetal ascites, Neutropenia, Pericardial effusion, Leukopenia, Infectio... ORPHA:292
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo... OMIM:104100
Peeling Skin Syndrome 1
Scaling skin, Erythema OMIM:270300
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... ORPHA:829
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Erythrocytosis, Familial, 2