banner
Genes Phenotypes Help, News, Blog

Gene: Ofcc1 MGI:2658851

Log in to follow

Gene Summary

Name:
orofacial cleft 1 candidate 1
Synonyms:
ojoplano,  Opo

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Ofcc1em1(IMPC)J HOM   Early adult 4.99×10-05
thrombocytopenia Ofcc1em1(IMPC)J HOM Late adult 6.06×10-05
decreased grip strength Ofcc1em1(IMPC)J HOM Early adult 4.80×10-06
increased circulating phosphate level Ofcc1em1(IMPC)J HOM Late adult 5.37×10-06

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images
X-ray

XRay Images Forepaw

11 Images

View images
X-ray

XRay Images Skull Lateral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Ofcc1 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.

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

The table below shows human diseases predicted to be associated to Ofcc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Panic Disorder 1
Anxiety OMIM:167870
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Cardiomyopathy, Dilated, 3B
Increased circulating creatine kinase MB isoform OMIM:302045
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:615285
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... ORPHA:98826
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... OMIM:603552
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... OMIM:300835
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... OMIM:613101
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Bernard-Soulier Syndrome
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... OMIM:231200
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hyperphosphatemia OMIM:239000
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration ORPHA:243343
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... OMIM:601399
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... OMIM:210250
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... ORPHA:101028
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... OMIM:613011
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:615010
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis OMIM:300367
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Hyperammonemia, Hypercystinemia, Elevate... ORPHA:3124
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... OMIM:613845
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Abnormal platelet function, Hypocalcemic seiz... ORPHA:79443
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Hemorrhagic Fever-Renal Syndrome
Anemia, Hyperphosphatemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat... ORPHA:340
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... ORPHA:466650
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... ORPHA:507
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... OMIM:267700
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Hyperammonemia, Anemia ORPHA:289916
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Thrombocytopenia OMIM:618116
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... OMIM:619743
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly OMIM:610333
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... OMIM:139090
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Anemia OMIM:619151
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
Osteopetrosis, Autosomal Recessive 4
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis OMIM:611490
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly OMIM:239200
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... ORPHA:231111
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Babesiosis
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Myh9-Related Disease
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... ORPHA:182050
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... ORPHA:91547
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly ORPHA:210136
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... OMIM:614857
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... OMIM:603553
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Elevated circulating C-reactive protein concentration... OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... OMIM:603554
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Specific Granule Deficiency 2
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia OMIM:617475
Methylmalonic Aciduria, Cblb Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia OMIM:251000
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... ORPHA:100026
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Propionic Acidemia
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia OMIM:606054
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... OMIM:619644
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... ORPHA:98850
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Methylmalonic Aciduria, Cbla Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251100
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... ORPHA:3226
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level ORPHA:35706
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... ORPHA:292
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Increased LDL cholesterol concentration, D... OMIM:278000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
X-Linked Agammaglobulinemia
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia ORPHA:47
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... OMIM:301078
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Abnormality of neutrophils, Thrombocytopeni... ORPHA:381
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly ORPHA:398124
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... OMIM:185070
Congenital Rubella Syndrome
Thrombocytopenia, Splenomegaly, Anemia ORPHA:290
Fetal Gaucher Disease
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:85212
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis OMIM:618886
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:259700
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:259710
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... OMIM:277380
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Tularemia
Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis ORPHA:90060
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent platelet dense granules OMIM:614074
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... ORPHA:540
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Leukocytosis, Hyponatremia ORPHA:391673
Pearson Syndrome
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... ORPHA:699
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Mirage Syndrome
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen OMIM:617053
Alg8-Cdg
Thrombocytopenia, Anemia, Hyponatremia ORPHA:79325
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... ORPHA:90038
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:3240
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:230800
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration OMIM:614576
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated creatine k... ORPHA:99901
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... ORPHA:454836
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:520
Mevalonic Aciduria
Anemia, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Normocytic hypopl... OMIM:610377
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Transaldolase Deficiency
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:606003
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Chediak-Higashi Syndrome
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... OMIM:214500
Wolfram Syndrome 1
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia OMIM:222300
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... OMIM:259720
Felty Syndrome
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:47612
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Neutropenia OMIM:613989
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:614700
Dent Disease 1
Hypophosphatemia OMIM:300009
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration OMIM:618775
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatospleno... ORPHA:167
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly OMIM:617591
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Thrombocytopenia,... ORPHA:1830
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Overlap Myositis
Elevated circulating creatine kinase concentration, Leukopenia, Thrombocytopenia, Abnormal circul... ORPHA:206572
Cyclic Neutropenia
Thrombocytopenia, Decreased eosinophil count, Cyclic neutropenia, Lymphopenia ORPHA:2686
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp... OMIM:608233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... ORPHA:79124
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... ORPHA:3337
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... ORPHA:811
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia OMIM:617303
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia ORPHA:562
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:242900
Prolidase Deficiency
Thrombocytopenia, Splenomegaly, Anemia OMIM:170100
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:301056
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:600901
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia OMIM:253270
Wilson Disease
Thrombocytopenia, Splenomegaly, Anemia ORPHA:905
Opsismodysplasia
Hypophosphatemia OMIM:258480
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... OMIM:557000
Hepatocellular Carcinoma
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... ORPHA:88673
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:508542
Gaucher Disease Type 1
Leukopenia, Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly ORPHA:77259
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... OMIM:251880
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:3322
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... ORPHA:36234
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227650
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Immunodeficiency 40
Thrombocytopenia, T lymphocytopenia OMIM:616433
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemia, Hypokalemia, Hypophosp... OMIM:219800
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Thrombocytopenia, Aplastic anemia, Pancytopenia OMIM:613990
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... OMIM:277400
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... ORPHA:2330
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia, Giant platelets OMIM:611209
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia, Pancytopenia OMIM:224230
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... OMIM:612541
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Ne... ORPHA:90051
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Pediatric Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphopenia ORPHA:93552
Shigellosis
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, ... ORPHA:810
Immunodeficiency 22
Thrombocytopenia, Anemia, Decreased proportion of CD4-positive helper T cells OMIM:615758
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia, Thrombo... ORPHA:534
Raine Syndrome
Hypophosphatemia OMIM:259775
Ebola Hemorrhagic Fever
Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Lysinuric Protein Intolerance
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Hepatosplenomegaly, Incr... ORPHA:470
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Immunodeficiency 47
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... OMIM:300972
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, High nonceruloplasmin-bound serum copper ORPHA:457351
Tangier Disease
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia ORPHA:31150
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227645
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Anemia, Hypocalcemia, Splenomegaly ORPHA:667
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Wilson Disease
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... OMIM:277900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... OMIM:617718
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:464343
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia ORPHA:79324
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia OMIM:229600
Lysinuric Protein Intolerance
Leukopenia, Anemia, Increased circulating ferritin concentration, Hemophagocytosis, Hyperammonemi... OMIM:222700
Lujo Hemorrhagic Fever
Leukopenia, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr... ORPHA:319213
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly OMIM:608013
Diamond-Blackfan Anemia 21
Anemia, Thrombocytopenia, Erythroid hypoplasia OMIM:620072
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitole... ORPHA:79282
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... OMIM:619573
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Kaposiform Lymphangiomatosis
Anemia, Abnormal spleen morphology, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly ORPHA:464329
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Hellp Syndrome
Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Lathosterolosis
Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis ORPHA:46059
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... ORPHA:2785
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia OMIM:230900
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227646
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbuminemia ORPHA:505248
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Caroli Syndrome
Leukopenia, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Marburg Hemorrhagic Fever
Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:544482
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Diamond-Blackfan Anemia 1
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... OMIM:105650
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... ORPHA:77293
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Tick-Borne Encephalitis
Leukopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:297
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
Aicardi-Goutieres Syndrome 7
Anemia, Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocyto... OMIM:615846
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Q Fever
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly ORPHA:781
Gaucher Disease Type 3
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:77261
Primary Hyperoxaluria Type 1
Hyperoxaluria, Abnormality of circulating enzyme level, Calcinosis ORPHA:93598
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Stevens-Johnson Syndrome
Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:36426
Toxic Epidermal Necrolysis
Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia OMIM:251260
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Thrombocytopenia OMIM:620005
Fibular Hemimelia
Thrombocytopenia