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Gene: D5Ertd579e MGI:1261849

Gene Summary

Name:

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms:

A930018H20Rik, 9030221A05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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	Allele	Zyg	Life Stage	P Value
abnormal coat/hair pigmentation	D5Ertd579e^em1(IMPC)J	HOM	Early adult	4.20×10^-12
thrombocytopenia	D5Ertd579e^em1(IMPC)J	HOM	Early adult	2.74×10^-05
abnormal behavior	D5Ertd579e^em1(IMPC)J	HOM	Early adult	5.42×10^-07
decreased thigmotaxis	D5Ertd579e^em1(IMPC)J	HOM	Early adult	5.42×10^-07
abnormal vocalization	D5Ertd579e^em1(IMPC)J	HOM	Early adult	2.42×10^-10

Download data as: TSV XLS

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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.

Eye Morphology

Images Slit Lamp

4 Images

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Auditory Brain Stem Response

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

7 Images

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Human diseases caused by D5Ertd579e 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.

Human diseases associated with D5Ertd579e (0 diseases)
Human diseases predicted to be associated with D5Ertd579e (512 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to D5Ertd579e by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair	OMIM:269600
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia	OMIM:614082
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o...	ORPHA:75564
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Phenylketonuria	Hyperactivity, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive behaviors, ...	OMIM:261600
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Irritability, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:229050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Aicardi-Goutieres Syndrome 6	Splenomegaly, Irritability, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the skin, Thrombo...	OMIM:614171
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Obesity And Hypopigmentation	Red hair, Polyphagia	OMIM:620195
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ...	OMIM:614072
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Wt Limb-Blood Syndrome	Pancytopenia, Leukemia, Irregular hyperpigmentation, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Thrombocytopenia, Leukopenia, Attention de...	OMIM:619151
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal...	ORPHA:381
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ...	ORPHA:411515
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, Irregular hyperpigmentati...	OMIM:620184
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation	ORPHA:177910
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Depression	OMIM:231000
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Babesiosis	Hemolytic anemia, Anorexia, Splenomegaly, Depression, Leukopenia, Thrombocytopenia	ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Specific Granule Deficiency 2	Absent neutrophil specific granules, Hirsutism, Anemia, Fragile nails, Nail dysplasia, Neutropeni...	OMIM:617475
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Dysphagia	OMIM:619751
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Aicardi-Goutieres Syndrome 5	Irritability, Thrombocytopenia	OMIM:612952
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia	ORPHA:848
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Hypopigmentation of the skin, Hyperpigmen...	ORPHA:158029
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen...	OMIM:613989
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Holocarboxylase Synthetase Deficiency	Alopecia, Irritability, Thrombocytopenia, Anorexia	ORPHA:79242
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia	OMIM:620365
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Aregenerative Anemia	Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:101096
Tufted Angioma	Anemia, Thrombocytopenia, Hypertrichosis	ORPHA:1063
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia, Dysphagia	OMIM:615750
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Albinism, Impaired ADP-induced platelet aggregation, Ocular albin...	OMIM:614074
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Leukopeni...	ORPHA:507
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Nail pits, Reticular hyperpigmentation, Anemia, Leukopeni...	OMIM:127550
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Anorexia, Megaloblastic anemia	ORPHA:49827
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Pancytopenia, Nail dystrophy, Thrombocytopenia	OMIM:613987
Cog4-Cdg	Irritability, Thick hair, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia	ORPHA:79312
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin, Polyphagia	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin, Polyphagia	ORPHA:71526
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega...	OMIM:214500
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:858
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Classic Phenylketonuria	Hypopigmentation of hair, Depression, Self-injurious behavior, Attention deficit hyperactivity di...	ORPHA:79254
Rhabdoid Tumor	Irritability, Thrombocytopenia, Anemia	ORPHA:69077
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes...	OMIM:224230
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Fine hair, Premature gray...	OMIM:613990
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia	OMIM:246400
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Dysphag...	ORPHA:100026
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne...	OMIM:304790
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys...	ORPHA:411511
Immunodeficiency 10	Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Aggressive Systemic Mastocytosis	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increa...	ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Absent platelet dense granules, Fair hair, Decreased CD4:CD8 rati...	OMIM:608233
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots	ORPHA:100
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Fair hair, Blue irides	OMIM:614613
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris transillumina...	OMIM:619172
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:290
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Thrombocytopenia	OMIM:619980
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Wilson Disease	Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Depression, Anemia	ORPHA:905
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Preeclampsia	Thrombocytopenia	ORPHA:275555
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Pigmentary retinopathy, Dysphagia, Thrombocytopenia	OMIM:222300
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Anemia, Neutropenia, Thrombocytopenia	ORPHA:47
Holocarboxylase Synthetase Deficiency	Irritability, Alopecia, Thrombocytopenia	OMIM:253270
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Leukopenia, Addictive alcohol use, Neutro...	ORPHA:520
Pediatric-Onset Graves Disease	Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Irritability, ...	ORPHA:525731
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat...	ORPHA:98794
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Dysphagia	ORPHA:70472
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Thrombocytopenia, Tongue thrusting, Self-injurious behavior, Stereotypical body ro...	ORPHA:261323
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Thrombocytopenia, Aggressive behavior	OMIM:617710
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Tongue thrusting, Dysphagia, Hypopigmentation of the skin, Iris hypopig...	ORPHA:98795
Gaucher Disease, Type I	Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, Anemia, Leukop...	OMIM:617303
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Irritability, Leukopenia, Neutrop...	ORPHA:292
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Prolidase Deficiency	Splenomegaly, Low posterior hairline, Anemia, Facial hirsutism, Thrombocytopenia	OMIM:170100
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Felty Syndrome	Generalized hyperpigmentation, Splenomegaly, Anemia, Neutropenia, Irregular hyperpigmentation, Ab...	ORPHA:47612
Schimke Immunoosseous Dysplasia	Pancytopenia, Hypermelanotic macule, Abnormal T cell morphology, Anemia, Fine hair, Coarse hair, ...	OMIM:242900
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia	OMIM:618048
Smith-Kingsmore Syndrome	Curly hair, Cafe-au-lait spot, Thrombocytopenia	OMIM:616638
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Self-injurious behavior, Sacral hypertrichosis, Abnormal...	ORPHA:457351
Acute Radiation Syndrome	Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm...	ORPHA:454831
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia, Depression	ORPHA:83601
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Snakebite Envenomation	Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia	ORPHA:449285
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Squalene Synthase Deficiency	Irritability, Abnormality of hair pigmentation	OMIM:618156
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Small nail, Anemia, Neutropenia	OMIM:614520
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Propionic Acidemia	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:606054
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Blue Rubber Bleb Nevus	Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hypopigmentatio...	ORPHA:167
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Fanconi Anemia, Complementation Group E	Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Ca...	OMIM:600901
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope...	ORPHA:974
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy...	OMIM:620072
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Noonan Syndrome 4	Curly hair, Sparse eyebrow, Blue irides, High anterior hairline, Thrombocytopenia	OMIM:610733
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutropenia, Leukemia,...	OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Irritability, Leukopenia, Hemop...	OMIM:603553
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Low anterior hairline, Thrombocytopenia	OMIM:606593
Hemophagocytic Lymphohistiocytosis, Familial, 1	Thrombocytopenia, Splenomegaly, Irritability, Leukopenia, Hemophagocytosis, Anemia	OMIM:267700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Recon Progeroid Syndrome	Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Thrombocytopenia	OMIM:620370
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Gaucher Disease Type 1	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Anemia	ORPHA:77259
Zika Virus Disease	Retinal pigment epithelial mottling, Thrombocytopenia	ORPHA:448237
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular volume, Dysphagia, Throm...	ORPHA:261250
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Anemia, Nail dystrophy, Nail dysplasia, Sparse hair, Thromb...	OMIM:612199
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small nail, Hirsutism, Thrombocytopenia	OMIM:301056
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Schimke Immuno-Osseous Dysplasia	Hypermelanotic macule, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal prop...	ORPHA:1830
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Alopecia totalis, Thrombocytopenia	OMIM:618775
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Splenomegaly, Loss of ...	OMIM:263700
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Polyphagia	OMIM:609734
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Mogs-Cdg	Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism	ORPHA:79330
Pediatric Systemic Lupus Erythematosus	Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:614576
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Fanconi Anemia, Complementation Group C	Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Ca...	OMIM:227645
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Highly arched eyebrow, Long eyelashes, Attention deficit hype...	OMIM:619005
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia, Dysphagia	ORPHA:319218
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	ORPHA:84064
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Dysphagia	ORPHA:169105
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai...	ORPHA:235
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Abnormality of thrombocytes, Anorexia, Ocular albinis...	ORPHA:79430
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Aicardi-Goutieres Syndrome 1	Splenomegaly, Self-mutilation, Thrombocytopenia	OMIM:225750
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Neutropenia, H...	OMIM:557000
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Coarse hair, Thrombocytopenia	OMIM:612394
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Hyperpigmentation of the...	OMIM:305000
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair morphology, ...	ORPHA:647
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Anemia, Leukopenia, Cafe-au-lait spot, Thrombocytopenia	OMIM:603467
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombocytopenia	OMIM:616737
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormality of skin pigmentation, Attention de...	OMIM:227646
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia...	OMIM:610377
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Overlap Myositis	Leukopenia, Thrombocytopenia, Dysphagia	ORPHA:206572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia, Dysphagia, Aggressive behavior	ORPHA:572798
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Hyperpigmentation of the skin, Anisocyt...	ORPHA:79277
Nijmegen Breakage Syndrome	Hyperactivity, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Progressive viti...	OMIM:251260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Gaucher Disease, Perinatal Lethal	Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thrombocytopenia	OMIM:608013
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Irritability, Microangiopathic hemolytic anemia, T...	ORPHA:90038
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:98793
Lysinuric Protein Intolerance	Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Thrombocytopenia	OMIM:222700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:177901
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Hepatosplenomegaly, Anemia, Leukopenia, Long eye...	ORPHA:505248
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Synophrys, Hirsutism, Low posterior hairline, Self-injuri...	OMIM:122470
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Hypopigmentation of hair, Head-banging, Abnormal temper tantrums, S...	ORPHA:177907
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma...	ORPHA:98754
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia	OMIM:617591
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness	ORPHA:96169
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Abnormal temper tantrums, Co...	ORPHA:398069
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Depression, Leukopenia, Thrombocytopenia	ORPHA:536
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Polyphagia, Skin-picking, Abnormal temper tantrums, Hypopigmentation of...	ORPHA:398079
Vici Syndrome	Hypopigmentation of hair, Albinism, Ocular albinism, Dysphagia, Leukopenia, T lymphocytopenia, Ne...	OMIM:242840
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Lujo Hemorrhagic Fever	Leukocytosis, Leukopenia, Dysphagia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia, Dysphagia	OMIM:254900
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Self-injurious behavior, Frontal upsweep ...	OMIM:176270
Tick-Borne Encephalitis	Anorexia, Leukocytosis, Depression, Leukopenia, Dysphagia, Thrombocytopenia	ORPHA:297
Shigellosis	Anorexia, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia	ORPHA:810
Toxic Epidermal Necrolysis	Dysphagia, Anemia, Neutropenia, Polydipsia, Thrombocytopenia	ORPHA:537
Alg12-Cdg	Small nail, B lymphocytopenia, Thrombocytopenia, Low posterior hairline	ORPHA:79324
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Atelis Syndrome 2	Anemia, Thrombocytopenia, Attention deficit hyperactivity disorder	OMIM:620185
Tangier Disease	Thrombocytopenia, Nail dystrophy, Anemia, Hepatosplenomegaly	ORPHA:31150
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Thrombocytopenia, Splenomegaly, Dys...	ORPHA:699
Neuroleptic Malignant Syndrome	Leukocytosis, Agitation, Dysphagia, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Deeah Syndrome	Decreased hemoglobin concentration, Low posterior hairline, Dysphagia, Self-mutilation, Thrombocy...	OMIM:619004
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Q Fever	Anorexia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia	ORPHA:781
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Dysphagia	ORPHA:36426
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ...	ORPHA:163746
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Sparse hair, Lymphopenia, Thrombocytopenia	OMIM:620005
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Depression, Anemia, Self-injurious behavior, Fine hair, Compulsive behaviors, ...	ORPHA:534
Kikuchi-Fujimoto Disease	Alopecia, Anorexia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Anemia	ORPHA:50918
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Degcags Syndrome	Abnormal eyebrow morphology, Pancytopenia, Hypopigmentation of hair, Oral-pharyngeal dysphagia, C...	OMIM:619488
Insulin-Resistance Syndrome Type B	Leukopenia, Alopecia, Hirsutism, Thrombocytopenia	ORPHA:2298
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Irritability, Thrombocytopenia	OMIM:615846
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Rift Valley Fever	Anemia, Thrombocytopenia, Anorexia	ORPHA:319251
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia	OMIM:300972
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Ogden Syndrome	Polycythemia, Sparse eyebrow, Fine hair, Irritability, Iron deficiency anemia, Long eyelashes, Dy...	OMIM:300855
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombocytopenia	ORPHA:487796
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Brucellosis	Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Depression, Leukopenia, Th...	ORPHA:1304
Wilson Disease	Hemolytic anemia, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia	OMIM:277900
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Gaucher Disease	Pancytopenia, Thrombocytopenia, Splenomegaly, Depression, Abnormality of skin pigmentation, Dysph...	ORPHA:355
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Primary Sjögren Syndrome	Normocytic anemia, Depression, Leukopenia, Normochromic anemia, Decreased proportion of CD4-posit...	ORPHA:289390
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Attention deficit hyperactivi...	ORPHA:739
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Hypopigmented skin patches, Abnorma...	ORPHA:84
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia, Aplasia/Hypoplasia of the nails	ORPHA:163979
Jacobsen Syndrome	Abnormal eyelash morphology, Thrombocytopenia	OMIM:147791
Proteasome-Associated Autoinflammatory Syndrome 1	Sparse axillary hair, Microcytic anemia, Splenomegaly, Thrombocytopenia, Premature graying of hai...	OMIM:256040
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypopigmented skin patches, Depression, Hypoplasia of ...	ORPHA:567
Jacobsen Syndrome	Thrombocytopenia, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity disorder	ORPHA:2308
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Anorexia, Aggressive behavior, Neutrophilia in presence of infectio...	ORPHA:99826
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Anorexia, Splenomegaly, Leukocytosis, Leukopenia, Agitation, Emotiona...	ORPHA:99827
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Chronic Visceral Acid Sphingomyelinase Deficiency	Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Attention deficit hyperacti...	ORPHA:77293
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Agitation, Anemia	ORPHA:340
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abno...	ORPHA:2072
Acute Liver Failure	Euphoria, Depression, Agitation, Emotional lability, Thrombocytopenia	ORPHA:90062
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Lysinuric Protein Intolerance	Thrombocytopenia, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Oral aversion, Anemia	ORPHA:470
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Irritability, Pigmentary retinopathy, Thrombocyt...	OMIM:301068
Roberts Syndrome	Sparse hair, Thrombocytopenia	ORPHA:3103
Cystinosis, Nephropathic	Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Retinal pigment epithelial mot...	OMIM:219800
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Liver Disease, Severe Congenital	Dry hair, Thrombocytopenia, Splenomegaly, Irritability, Leukopenia, Lymphocytosis, Nail dystrophy...	OMIM:619991
Sarcoidosis	Hemolytic anemia, Alopecia, Hyperpigmentation of the skin, Eosinophilia, Increased T cell count, ...	ORPHA:797
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Self-injurious behavior, Hypopigmentation of hair, Attention deficit...	ORPHA:818
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Aicardi-Goutières Syndrome	Irritability, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly	ORPHA:51
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Polydipsia, Thrombocytopenia	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Osteogenesis Imperfecta	Thrombocytopenia, Dysphagia	ORPHA:666
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior hairline, Wooll...	OMIM:163950
Digeorge Syndrome	Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Attention deficit hyperactivity disorde...	OMIM:188400
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Leptospirosis	Thrombocytopenia, Anorexia	ORPHA:509
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for D5Ertd579e

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to D5Ertd579e.

No publications found that use IMPC mice or data for D5Ertd579e.

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MGI Allele	Allele Type	Produced
D5Ertd579e^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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