Gene Summary

orofacial cleft 1 candidate 1
ojoplano,  Opo

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Ofcc1em1(IMPC)J HOM   Late adult 2.82×10-07
decreased thigmotaxis Ofcc1em1(IMPC)J HOM   Early adult 4.99×10-05
increased circulating phosphate level Ofcc1em1(IMPC)J HOM Late adult 5.12×10-06
decreased grip strength Ofcc1em1(IMPC)J HOM Early adult 8.69×10-06
thrombocytopenia Ofcc1em1(IMPC)J HOM Late adult 6.06×10-05
abnormal hindlimb morphology Ofcc1em1(IMPC)J HOM Late adult 6.04×10-06

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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.


XRay Images Skull Lateral Orientation

11 Images


XRay Images Skull Dorso Ventral Orientation

11 Images


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Forepaw

11 Images


XRay Images Whole Body Dorso Ventral

11 Images

Combined SHIRPA and Dysmorphology


9 Images

Auditory Brain Stem Response

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

8 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
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Amegakaryocytic thrombo... ORPHA:71289
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Brachydactyly, Hypocalcemia OMIM:603233
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Spondyloepiphyseal Dysplasia, Nishimura Type
Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Vitamin D-Dependent Rickets, Type 3
Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, Bowing of the... OMIM:619073
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Cortical subperiosteal ... ORPHA:94089
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Short metatarsal, Short meta... OMIM:612462
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Tremor, Hyperur... ORPHA:94093
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Short finger, Hypocalcemic tetany, Brachydactyly, Short metatarsal,... OMIM:103580
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenomegaly, Throm... OMIM:610539
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Short foot, Short palm OMIM:241410
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient... OMIM:127000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Pontocerebellar Hypoplasia, Type 15
Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Hyperphosphatemia ORPHA:280062
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Pontocerebellar Hypoplasia, Type 14
Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619301
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hypophosphatemic Bone Disease
Hypophosphatemia, Bowing of the legs OMIM:146350
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia OMIM:617994
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Short humerus, Lateral femoral bowing, Bowing of the long bones, Hydroxyprolin... OMIM:239000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metacarpal, Hyperphosphatemi... ORPHA:79444
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hepatosplenomegaly, Radioulnar synostosis, Congenital thrombocytopenia, Thro... OMIM:616738
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis OMIM:229050
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metaca... ORPHA:79443
Fanconi Anemia, Complementation Group T
Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myeloid leukemia, Thrombocytopenia... OMIM:616435
Sanjad-Sakati Syndrome
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Writer's cramp ORPHA:428
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Dystonia, Choreoathetosis ORPHA:289916
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly... OMIM:101800
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Stenosis of the medullary cavity of the long bones, Anemi... ORPHA:93325
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Hepatosplenomegaly, Genu valgu... OMIM:307800
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Dystonia, Choreoathetosis ORPHA:79312
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Diaphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kina... OMIM:614727
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Adducted thumb, Thrombocytopenia OMIM:601815
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Radial deviation of finger, Clinodactyly OMIM:188025
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia, Choreoathetosis ORPHA:27
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Hypophosphatemic rickets OMIM:618913
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia OMIM:610333
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme concentration, Eleva... ORPHA:3124
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Fibular bowing, Femoral bowing, Hypocalcemia, Tibial bowing, Hypophosphatemia, Metaphyseal irregu... OMIM:600081
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Leukopenia, Thrombocytopenia OMIM:618116
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... OMIM:210250
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Elevated circulating c... OMIM:619743
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Camptodactyly, Thrombocytopenia OMIM:619751
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Toe syndactyly, Short metacarpal ORPHA:2611
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Fibular bowing, Femoral bowing, Hypophosphatemic rickets, Tibial bowing, Hypophosphatemia, Abnorm... OMIM:241530
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Diaphyseal dysplasia, Refractory anemia, Thrombocytopenia OMIM:231095
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Head titubation, Hypochromic microcytic anemia, Thr... ORPHA:3240
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Subperiosteal bone resorption, Fibular bowing, Femoral bowing, Hypocalcemia, Tibial bowing, Hypop... OMIM:264700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypomagnesemi... OMIM:248250
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Pelger-Huet Anomaly
Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Short 5th metacarpal, Polydactyly,... OMIM:169400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Amegakaryocytic thromb... OMIM:605432
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Amed Syndrome, Digenic
Leukopenia, Long thumb, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocyto... OMIM:603585
Noonan Syndrome 12
Lymphopenia, Proximal placement of thumb, Thrombocytopenia OMIM:618624
Vitamin D-Dependent Rickets, Type 2A
Subperiosteal bone resorption, Fibular bowing, Femoral bowing, Tibial bowing, Hypophosphatemia, H... OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Fibular bowing, Femoral bowing, Hypophosphatemic rickets, Tibial bowing, Hypophosphatemia, Metaph... OMIM:300554
Leukopenia, Splenomegaly, Clinodactyly of the 5th toe, Thrombocytopenia, Hemolytic anemia ORPHA:108
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Hypochromic anemia, Femoral bowing, Leukocytosis, Hypocalcemia, Ti... ORPHA:289157
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Clinodactyly, Brachydactyly, Thrombocytopenia, B lymphocy... OMIM:618048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Specific Granule Deficiency 2
Sandal gap, Absent neutrophil specific granules, Brachydactyly, Neutropenia, Thrombocytopenia, An... OMIM:617475
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Genu valgum, Hypocalcemia, Hypophosphatemia, Abnormal metap... ORPHA:93160
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal femur morphology, Hypocalcemia, Tibial bowing, Hypophos... ORPHA:352540
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Clinodactyly of the 5th toe, Thrombocytopenia, Anemia, Abnormalit... ORPHA:229717
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Propionic Acidemia
Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Dystonia OMIM:606054
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal cupping, Bowing of the long bones, Metaphyseal chondrodysplasia, Hypophosphatemia, Cl... OMIM:156400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:210136
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Braddock-Carey Syndrome 2
Clinodactyly, Thrombocytopenia OMIM:619981
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne... OMIM:614857
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Talipes equinovarus, Anemia, Thro... OMIM:608104
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Neutropenia, Thrombocytopenia, Anemia, Met... OMIM:251100
Hypokalemia, Hypophosphatemia ORPHA:213
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Athetosis, Thrombocytopenia, Tremor OMIM:617710
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Pancytopenia, Hypocalcemia, Splenomegaly, Femur fracture, Thrombocytopenia, Co... OMIM:259700
Congenital Rubella Syndrome
Anemia, Abnormal metaphysis morphology, Splenomegaly, Thrombocytopenia ORPHA:290
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Mirage Syndrome
Hyperkalemia, Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Hyponatremia, Talip... OMIM:617053
Dent Disease 1
Fibular bowing, Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Bowing... OMIM:300009
Methylmalonic Aciduria, Cblb Type
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci... OMIM:251110
Wolfram Syndrome 1
Limited mobility of proximal interphalangeal joint, Sideroblastic anemia, Tremor, Megaloblastic a... OMIM:222300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentration ORPHA:35706
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Genu valgum, Pancytopenia, Thrombocytopenia, An... OMIM:259710
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic... OMIM:254900
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hyponatremia, Talipes equinovarus, Anemia, Brachydactyly, Thrombocytopenia, Camptodactyly ORPHA:79325
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Sengers Syndrome
Thrombocytopenia OMIM:212350
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... OMIM:278000
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Talipes eq... OMIM:277380
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Methylmalonic acidemia OMIM:251000
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Talipes equinovarus, Thrombocytopenia, Camptodactyly OMIM:619980
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Leukopenia, Tremor, Opisthotonus, Neutropenia, Thrombocytopenia, Dystonia, Choreoathe... OMIM:616271
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Griscelli Syndrome
Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality... ORPHA:381
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Thrombocytopenia ORPHA:370924
Fanconi-Bickel Syndrome
Bowing of the long bones, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytop... OMIM:230800
Shwachman-Diamond Syndrome 1
Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Metaphyseal sclerosis, Proximal fem... OMIM:260400
Rhizomelia, Metaphyseal cupping, Hypophosphatemia, Short foot, Short phalanx of finger, Short met... OMIM:258480
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Hypophosp... ORPHA:699
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Syndactyly OMIM:614520
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Abnormal dense gra... OMIM:214500
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Leukopenia, Elevated circulating creatine kinase... OMIM:301056
Von Willebrand Disease
Abnormality of thrombocytes, Deviation of finger, Microcytic anemia, Thrombocytopenia, Abnormal p... ORPHA:903
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration, Postaxial polydac... OMIM:614576
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia ORPHA:79242
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Ivic Syndrome
Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Leukocytosis, Radioulnar syno... ORPHA:2307
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Abnormal morphology of ulna, Bowing of the ... ORPHA:249
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Erlenmeyer flask deformity of the femurs, I... ORPHA:77259
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Splenomegaly, Increased mean corpuscular volume, Clubbing, Thrombocytopenia OMIM:620367
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-... ORPHA:457077
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle response OMIM:618056
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Tremor, Transient hypophosphatemia, Hyperkalemia, Mildly el... ORPHA:79102
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased proportion of class-switched m... OMIM:614700
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Absent radius, L... OMIM:600901
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia OMIM:620423
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, Reticulocytopenia, B lymphocyt... ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Ulnar deviation of finger, Broad femoral neck, Rhizomelia, Giant platelets, Hypoplasi... OMIM:611209
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Overlapping toe, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... ORPHA:811
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Overlap Myositis
Finger swelling, Abnormal circulating lipid concentration, Subluxation of the small joints of the... ORPHA:206572
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytop... OMIM:259720
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Tremor, Splenomegaly, Bowing of the long bones, Hypophosphatemia, Anemia, Abnormal ... ORPHA:667
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Short proximal phalanx of finger, Thrombocytopenia OMIM:616638
Schimke Immunoosseous Dysplasia
Hypoplasia of the capital femoral epiphysis, Lymphopenia, Pancytopenia, Abnormal T cell morpholog... OMIM:242900
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Abnormal femoral head morp... ORPHA:1830
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Erythroid hypoplasia, Hallux valgu... OMIM:620072
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Absent radius, L... OMIM:227650
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ... OMIM:610377
Pseudo-Torch Syndrome 1
Dystonia, Splenomegaly, Thrombocytopenia OMIM:251290
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Metaphyseal widening, Anemia, Thrombocyto... OMIM:617303
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia, Abnormal femur morphology ORPHA:562
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia OMIM:301054
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Raine Syndrome
Micromelia, Long hallux, Bowing of the long bones, Hypophosphatemia, Brachydactyly OMIM:259775
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Lig4 Syndrome
Clinodactyly of the 5th finger, Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Elevated hepatic iron concentration OMIM:614946
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Thrombocytopenia, High nonceruloplasmin-bound serum copper ORPHA:457351
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Leukopenia, Abnormal metacarpal m... ORPHA:974
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Glycine Encephalopathy With Normal Serum Glycine
Hand clenching, Overlapping toe, Talipes equinovarus, Exaggerated startle response OMIM:617301
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Pancytopenia, Leukopenia, M... OMIM:613990
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Tremor ORPHA:525731
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Trapezoidal distal femoral condyles, ... ORPHA:89936
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Genu valgum, Hypophosphatemic rick... OMIM:219800
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration OMIM:618775
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Absent radius, L... OMIM:227645
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Metaphyseal sclerosis, Genu valgum, Tremor, Bowing of the long bones, Thrombocytopenia, Anemia, D... OMIM:612199
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid h... OMIM:612541
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Th... ORPHA:534
Recon Progeroid Syndrome
Long thumb, Arachnodactyly, Thrombocytopenia, Anemia, Proximal placement of thumb OMIM:620370
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... OMIM:274000
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia, Athetosis, Limb dystonia, Tremor ORPHA:572798
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hypoalbuminemia, Sandal gap, Hypocholesterolemia, Overlapping fingers, Hyponatremia, Talipes equi... ORPHA:79324
Aicardi-Goutieres Syndrome 1
Dystonia, Splenomegaly, Thrombocytopenia OMIM:225750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Absent thumb, Short thumb, Persistence of hemoglobin F, Incr... ORPHA:124
Wilson Disease
Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Distal femoral bowing, Hypophosphatemic rickets, Tibial bowing, Coxa vara... ORPHA:289176
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo... OMIM:557000
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Clinodactyly, Short proximal phalanx of the 5th finger, Anemia, Brachydactyly, Thr... ORPHA:261323
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Long fingers, Postaxial hand polydactyly, Dystonia, Rocker bottom foo... ORPHA:521426
Shwachman-Diamond Syndrome 2
Normocytic anemia, Neutropenia, Metaphyseal widening, Thrombocytopenia, Metaphyseal irregularity,... OMIM:617941
Takenouchi-Kosaki Syndrome
Clinodactyly, Overlapping toe, Thrombocytopenia, Camptodactyly, Increased mean platelet volume, P... OMIM:616737
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hand tremor, Decreased circulating ceruloplasmin concentration, He... OMIM:277900
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Leukopenia, 2-3 finger syndactyly, Hypoplasia of the radius, Thrombocy... OMIM:603467
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Bcard Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the capital fe... OMIM:612394
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Lujo Hemorrhagic Fever
Resting tremor, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-r... ORPHA:319213
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia OMIM:253270
Hoyeraal-Hreidarsson Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Aplastic anemia, Thrombocytopenia OMIM:300514
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Tremor, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropen... OMIM:277400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... OMIM:251880
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:93552
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, 2-3 t... ORPHA:163979
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:90051
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Large hands, Exaggerated startle response OMIM:615574
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Broad long bone diaphyses, Exaggerated startle response, Broad metacarpals, F... ORPHA:79255
Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess, Thrombocytopenia,... ORPHA:810
Lysinuric Protein Intolerance
Hemophagocytosis, Increased circulating ferritin concentration, Decreased HDL cholesterol concent... ORPHA:470
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Opisthotonus, Thrombocytopenia, Anemia OMIM:608013
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Pancytopenia, Partial duplication of thumb ... OMIM:227646
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Dystonia, Overlapping fingers, Hepatosplenomegaly, Thrombocytopenia ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Lymphopenia, Pancytopenia, Leukopenia, Brachydactyly, Thrombocytopenia, Anemia, Syndactyly OMIM:620654
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Metaphyseal irregular... ORPHA:1652
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnormal spleen morphology, Thromboc... ORPHA:464329
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... OMIM:300972
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230