Gene Summary

guanine nucleotide binding protein-like 1
Gna-rs1,  Gnal1

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
decreased lean body mass Gnl1em1(IMPC)Tcp HOM   Early adult 9.71×10-09
male infertility Gnl1em1(IMPC)Tcp HOM Early adult 0.00
female infertility Gnl1em1(IMPC)Tcp HOM Early adult 0.00
thrombocytopenia Gnl1em1(IMPC)Tcp HOM Early adult 6.83×10-08
decreased mean corpuscular hemoglobin concentration Gnl1em1(IMPC)Tcp HOM   Early adult 9.47×10-05
abnormal cranium morphology Gnl1em1(IMPC)Tcp HOM Early adult 4.07×10-09
impaired glucose tolerance Gnl1em1(IMPC)Tcp HOM Early adult 2.55×10-08
increased grip strength Gnl1em1(IMPC)Tcp HOM Early adult 4.87×10-07
decreased hemoglobin content Gnl1em1(IMPC)Tcp HOM Early adult 6.08×10-07
abnormal bone structure Gnl1em1(IMPC)Tcp HOM   Early adult 3.14×10-05
shortened PR interval Gnl1em1(IMPC)Tcp HOM Early adult 8.78×10-06
decreased body length Gnl1em1(IMPC)Tcp HOM Early adult 6.84×10-21
increased total body fat amount Gnl1em1(IMPC)Tcp HOM Early adult 3.47×10-06
increased circulating alanine transaminase level Gnl1em1(IMPC)Tcp HOM   Early adult 7.63×10-05
short tibia Gnl1em1(IMPC)Tcp HOM Early adult 4.22×10-06
limb grasping Gnl1em1(IMPC)Tcp HOM Early adult 2.26×10-06
increased mean platelet volume Gnl1em1(IMPC)Tcp HOM Early adult 2.26×10-05

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.

Eye Morphology

Images Ophthalmoscopy

98 Images

Eye Morphology

Images Slit Lamp

15 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Gnl1 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 Gnl1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Thrombocytopenia, Myocardial infarction, Leukocyte inclusion bodies, Menorrhagia, Gian... OMIM:155100
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased mean platelet volume, My... ORPHA:182050
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ... OMIM:231200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Thrombocytopenia, Anemia, Osteopenia, Hepatosplenomegaly OMIM:610539
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Abnormality of neutrophils, P... OMIM:169400
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:605249
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Amegakaryocytic thrombocytopenia, Clinod... ORPHA:71289
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:153640
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Pulmonary hemorrhage, Cellulitis, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platel... ORPHA:238459
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Failure t... OMIM:617475
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Thyrotoxic Periodic Paralysis
Palpitations, Tremor, Postprandial hyperglycemia, Mildly elevated creatine kinase, Weight loss, T... ORPHA:79102
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia, Hypertension OMIM:166990
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Epistaxis, Increased mean platelet volume, Menorrhagia, Splenom... OMIM:153670
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Thrombocytopenia, Metaphyseal dysplasia, Failure to thrive... OMIM:614727
Wt Limb-Blood Syndrome
Radioulnar synostosis, Short phalanx of finger, Micrognathia, Joint contracture of the 5th finger... OMIM:194350
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Shortened PR interval, Elevated circulating creatine kinase conce... OMIM:232300
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Hypoglycemia, Ventricular ta... ORPHA:137675
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia,... OMIM:261740
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocy... ORPHA:721
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Failure to thriv... ORPHA:308552
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Pulmonary arterial hypertension, Micr... OMIM:601559
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Reduced bone mineral densit... ORPHA:848
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia, Fa... OMIM:615285
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Takenouchi-Kosaki Syndrome
Overlapping toe, Camptodactyly, Increased mean platelet volume, Thrombocytopenia, Pulmonic stenos... OMIM:616737
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension... OMIM:610947
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Epistaxis OMIM:613554
Glycogen Storage Disease Due To Acid Maltase Deficiency
Osteoporosis, Flexion contracture, Left ventricular outflow tract obstruction, Heart murmur, Shor... ORPHA:365
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Osteoporosis, Postaxial hand polydactyly, Toe syndactyly, Micrognathia, Abnormal circulating chol... OMIM:607330
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Hematemesis, Spontaneous, recurrent epistaxis, Macrothrombocytopenia... ORPHA:274
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis, Hip subluxation, ... ORPHA:356961
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Hypertension, Th... ORPHA:275555
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Duplication of thumb phalanx, Anemia, Short thumb OMIM:616435
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, Congestive heart failure, ... ORPHA:49827
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Failure to thrive, Hypoglycemia, Cardiomyopathy ORPHA:67048
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
+173470 integrin, beta-3
Impaired platelet aggregation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Epistaxis, D... OMIM:173470
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Hypermethioninemia, Increa... OMIM:222470
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Dk Phocomelia Syndrome
Thrombocytopenia, Phocomelia OMIM:223340
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Epi... OMIM:173590
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ankle clonus, Pancytopenia, Thrombocytopenia, Hypopla... OMIM:159550
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Failure to thrive, Vasculitis OMIM:617718
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Thrombocytopenia, Myocardial infa... ORPHA:54057
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Diffuse alveolar hemorrhage, Thrombocytopenia, Panc... OMIM:616050
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, D... OMIM:231095
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Osteopetrosis, Thrombocytopenia, Reduced bone m... ORPHA:2785
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy, Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes mellitus OMIM:598500
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Arrhythmia, Sideroblastic anemia, Hypertension OMIM:617021
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... ORPHA:45452
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Postural tremor, Action tremor, Intention tremor OMIM:254900
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility OMIM:261550
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Adducted thumb OMIM:601815
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation, Raynaud phenomenon, Hypertension ORPHA:401945
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Rhizomelia, Camptodactyly, Failure to thrive in infancy, Thrombocytopenia, S... OMIM:611209
Beta-Thalassemia Intermedia
Osteoporosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Decreased mean corpus... ORPHA:231222
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase c... OMIM:300376
Aromatase Deficiency
Osteoporosis, Genu valgum, Insulin resistance, Hypergonadotropic hypogonadism, Primary amenorrhea... ORPHA:91
Wolfram Syndrome 1
Tremor, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy, Limited... OMIM:222300
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mineral density, Pa... OMIM:259700
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Lymphopenia, Increased mea... ORPHA:84064
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Congenital thrombocytopenia, Neutropenia, Thrombocyto... OMIM:616738
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Hemolytic anemia, Thrombocytopenia, Myocardial infarction, Clinodactyly of the 5th toe, Congestiv... ORPHA:108
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Classic Galactosemia
Osteoporosis, Postural tremor, Decreased fertility in females, Oligomenorrhea, Hypoglycemia, Acti... ORPHA:79239
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Dia... OMIM:249270
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Hemolytic anemia, Neutropenia, ... ORPHA:398124
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320
Drug-Induced Lupus Erythematosus
Pericarditis, Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive pr... ORPHA:231111
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Rhabdoid Tumor
Internal hemorrhage, Hypertension, Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation,... OMIM:139090
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Metrorrhagia, Cardiac arrest, Leukopenia ORPHA:319218
Shwachman-Diamond Syndrome 1
Metaphyseal widening, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Transaldolase Deficiency
Telangiectasia, Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Hepatospl... ORPHA:101028
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Cranial hyperostosis, Thr... OMIM:259710
Isolated Agammaglobulinemia
Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Clinoda... ORPHA:229717
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Refractory Anemia With Excess Blasts
Palpitations, Abnormal circulating albumin concentration, Leukocytosis, Pedal edema, Thrombocytop... ORPHA:86839
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Clinodactyly, Brachydactyly, Failure to thrive OMIM:618048
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Pulmonary arte... OMIM:613845
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive, Hyperammonemia, Cardiomyo... ORPHA:79312
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Camptodactyly, Flexion contracture, Increased mean platelet volume, Thrombocytop... ORPHA:487796
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Thrombocytopenia, Inguinal hernia, Methylmalonic acidemia, Anemia, Pulmonary arteria... OMIM:614857
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Anemia, Talipes equinovarus OMIM:608104
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Genu valgum, Arrhythmia, Abnormality of iron homeost... ORPHA:231226
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Propionic Acidemia
Osteoporosis, Hyperglycinemia, Neutropenia, Hypoglycemia, Cerebellar hemorrhage, Pancytopenia, Th... OMIM:606054
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoal... ORPHA:507
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Clinodactyly, Micrognathia, Radial deviation of finger OMIM:188025
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Gastrointestinal hemorrhage, ... ORPHA:98850
Hemochromatosis, Type 1
Osteoporosis, Increased circulating ferritin concentration, Arrhythmia, Azoospermia, Glucose into... OMIM:235200
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Mirage Syndrome
Overlapping fingers, Radial club hand, Rocker bottom foot, Intracranial hemorrhage, Hypergonadotr... OMIM:617053
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Rhizomelia, Anemia, Leukopenia OMIM:618116
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Long thumb, Failure to thrive, Anemia, Leukopenia OMIM:619151
Beta-Thalassemia Major
Osteoporosis, Hypochromic microcytic anemia, Genu valgum, Arrhythmia, Abnormality of iron homeost... ORPHA:231214
Thrombocytopenia 5
Thrombocytopenia, Anemia, Epistaxis, Neutropenia OMIM:616216
Congenital Rubella Syndrome
Thrombocytopenia, Type I diabetes mellitus, Anemia, Splenomegaly, Abnormality of the metaphysis ORPHA:290
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Interphalangeal joint con... ORPHA:96334
Noonan Syndrome 12
Lymphopenia, 11 pairs of ribs, Thrombocytopenia, Supravalvular aortic stenosis, Proximal placemen... OMIM:618624
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Macrothrombocytopenia, Thrombocytopenia,... OMIM:603585
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Anemia, Hyperammonemia, Cardiomyopathy, Macrocytic anemia ORPHA:27
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Marburg Hemorrhagic Fever
Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Menometrorrhagia, Weight loss, Thrombocy... ORPHA:99826
Immunodeficiency 46
Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Lig4 Syndrome
Amenorrhea, Thrombocytopenia, Pancytopenia, Failure to thrive, Telangiectasia OMIM:606593
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, C... OMIM:227650
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Atrial Septal Defect, Ostium Primum Type
Clubbing of fingers, Atrial flutter, Tricuspid regurgitation, Pulmonary arterial hypertension, Fi... ORPHA:99106
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Rhizomelia, Deep plantar creases, Hypoglycemia, Umbilical herni... OMIM:616638
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Nonketotic hypoglycemia, Cerebellar hemorrhage, Sudden cardiac death,... ORPHA:99901
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Hypertension, Lateral displacement of the femoral head, Thrombocytopeni... OMIM:242900
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Micrognathia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Panc... OMIM:259720
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Abnormal T-wave, Type II diabetes mellitus, Hypomagnesemia, Syncop... ORPHA:358
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Hemolytic anemia... OMIM:600903
Relapsing Fever
Increased total bilirubin, Hypotension, Leukocytosis, Elevated circulating creatinine concentrati... ORPHA:91547
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Failure to thrive in infancy ORPHA:858
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia, Elevated alpha-fetoprotein OMIM:617243
Stormorken Syndrome
Epistaxis, Thrombocytopenia, Asplenia, Anemia, Elevated circulating creatine kinase concentration... OMIM:185070
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... OMIM:605432
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Hyperg... OMIM:609441
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Cache... ORPHA:824
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Spli... OMIM:609945
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Micrognathia, Failure to thrive, Short thumb, Increased mean corpusc... OMIM:612561
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Hyperammonemia, Neutropenia, Anemia ORPHA:289916
Ivic Syndrome
Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar synostosis, Leukocytosi... OMIM:147750
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevat... OMIM:274150
Necrotizing Enterocolitis
Hypotension, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age... ORPHA:391673
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Decreased HDL cholesterol concentration, Vacuolated... OMIM:278000
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Decreased body weight, Splenomegaly OMIM:231000
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Leukopenia OMIM:229050
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Gaucher Disease, Type Ii
Thrombocytopenia, Failure to thrive, Anemia, Splenomegaly OMIM:230900
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Decreased propor... OMIM:301000
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia, Menorrhagia OMIM:277480
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Broad thumb, Lymphopenia, Neutropenia, Hypoplasia of the thymu... OMIM:612541
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Panniculitis, Neutropenia, Tricuspid regurgitation, Re... ORPHA:508542
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Edema of the do... OMIM:274000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Cerebellar hemorrhage, Thrombocytopenia, Methylmalonic acidemia, Failure to thri... OMIM:251000
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia... OMIM:230800
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Osteolysis, Abnormality of femur morphology, Epidural hemorrhage, Ab... ORPHA:464329
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Lipodystrophy, Panniculitis, Flexion contracture, Finger swelling, Thrombocytopenia,... OMIM:617591
Methylmalonic Aciduria, Cbla Type
Tremor, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Ane... OMIM:251100
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Rocker bottom foot, Craniosynostosis, Arthrogryposis multiplex congenita, Po... OMIM:301056
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Neutropenia, Pancytopenia, Leukopenia, Anemia, Abnormality of finger, T... ORPHA:811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Typ... OMIM:304790
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Obesity, Cardiogenic shock... ORPHA:563
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive, Short toe, Talipes equ... ORPHA:98791
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Arrhythmia, Radioulnar synostosis, Synostosi... ORPHA:2307
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Thrombocytopeni... ORPHA:449285
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Thrombocytopenia, Pancytopenia, Aplastic anemia, Leukopenia, Failure to thrive, Dil... OMIM:613989
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic microcytic anemia... ORPHA:3240
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikiloc... OMIM:300367
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Felty Syndrome
Osteolysis, Pericarditis, Cellulitis, Abnormal lymphocyte morphology, Neutropenia, Weight loss, T... ORPHA:47612
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypoplastic pelvis, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decre... ORPHA:1830
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Vasculitis, Splenomegaly OMIM:615846
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Weight los... ORPHA:98849
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Acute Promyelocytic Leukemia
Leukocytosis, Epistaxis, Neutropenia, Weight loss, Diffuse alveolar hemorrhage, Pancytopenia, Thr... ORPHA:520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Umbilical hernia, Thrombocytopenia, Syndactyly, Failure to thrive, Anemia, Large for... OMIM:614520
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, C... OMIM:600901
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Wilson Disease
Abnormality of the menstrual cycle, Weight loss, Thrombocytopenia, Increased body weight, Anemia,... ORPHA:905
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Congenital Enterovirus Infection
Hypotension, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalb... ORPHA:292
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Idiopathic Aplastic Anemia
Epistaxis, Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... ORPHA:88
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Increased blood urea nitrogen, Ele... ORPHA:230
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Cerebral ... ORPHA:99828
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Adams-Oliver Syndrome
Absent hand, Gastrointestinal hemorrhage, Talipes, Finger syndactyly, Split hand, Abnormality of ... ORPHA:974
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Absence of alpha granule... OMIM:187900
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Pediatric-Onset Graves Disease
Palpitations, Tremor, Craniosynostosis, Sinus tachycardia, Atrial fibrillation, Hypertension, Neu... ORPHA:525731
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Cerebellar hemorrhage, Leukopenia OMIM:243500
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia, Myelofibrosis, Osteoporosis OMIM:616937
X-Linked Agammaglobulinemia
Hypocalcemia, Cellulitis, Neutropenia, Weight loss, Thrombocytopenia, Anemia, Failure to thrive ORPHA:47
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... ORPHA:198
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Intracranial hemorrhage, Flexion contracture, Thrombocytopeni... ORPHA:85212
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Small for gestational age, Elevated circulating creatine k... OMIM:618775
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Leukocytosis, Weight loss, Thrombocytopenia, Abnormal neutrophil count, ... ORPHA:3226
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Angina pectoris, Abnormal he... ORPHA:464343
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Genu valgum, Tremor, Metaphyseal sclerosis, Intestinal bleeding, Bowing of the long... OMIM:612199
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Flared iliac wing, Flexion contracture, Neutropenia, Thrombocytopenia, Cong... OMIM:617303
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Flexion contracture, Neutropenia, Reticulocytopenia, Pancytopenia... OMIM:227645
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Failure to ... OMIM:251110
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Portal hypertension, Hepatosplenomegaly, Increased circulating ferritin concent... ORPHA:210136
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Hyperten... OMIM:618886
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic ... OMIM:617925
Immune Thrombocytopenia
Thrombocytopenia, Cerebral hemorrhage, Epistaxis, Gastrointestinal hemorrhage ORPHA:3002
Omodysplasia 1
Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Umbilical hernia, Short humerus, L... OMIM:258315
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Menorrhagia, Epistaxis OMIM:614074
Thrombocytopenia, Tachycardia, Anemia, Leukocytosis ORPHA:3392
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Gaucher Disease Type 1
Osteolysis, Pedal edema, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenome... ORPHA:77259
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphol... ORPHA:100026
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Cerebral vasculitis, Leukocytosis ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hip dysplasia, Postaxial polydactyly, Thrombocytopenia, Pancytopenia, Failure ... OMIM:614576
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Elevated circulating C-reactive p... ORPHA:49566
Proteasome-Associated Autoinflammatory Syndrome 1
Clubbing of fingers, Impaired glucose tolerance, Elevated circulating C-reactive protein concentr... OMIM:256040
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Inguinal hernia, Spontaneous abortion, Slender long bone ORPHA:96181
Avian Influenza
Lymphopenia, Thrombocytopenia, Congestive heart failure, Hypoalbuminemia, Leukopenia, Elevated ci... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoglycemia, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Splenomeg... OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic ca... OMIM:611126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Immunodeficiency 10
Autoimmune hemolytic anemia, Amelogenesis imperfecta, Thrombocytopenia OMIM:612783
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia, Failure to thrive OMIM:616577
Transaldolase Deficiency
Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia, Splenomegaly, Failure to thriv... OMIM:606003
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Failur... OMIM:277380
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Thrombocytopenia, Failure to thrive ORPHA:370924
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia, Pulmo... ORPHA:90060
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Methemoglobinemia, Syncope ORPHA:464453
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Auto... ORPHA:85443
Lassa Fever
Gastrointestinal hemorrhage, Menometrorrhagia, Thrombocytopenia, Leukopenia, Spontaneous abortion ORPHA:99824
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Micrognathia, Increased bone mineral density ORPHA:1237
Prolidase Deficiency
Diffuse telangiectasia, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia, Micrognathia OMIM:170100
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Eosinophi... ORPHA:75565
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Arrhythmia, Radioulnar synostosis, Split hand, Sh... OMIM:171480
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypocalcemia, Tremor, Arrhythmia, Thrombocytosis, Hypotension, Leukocytosis, Hypern... ORPHA:94093
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Clubbing of fingers, Autoimmune thrombocyt... OMIM:614700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Turner Syndrome Due To Structural X Chromosome Anomalies
Pes planus, Failure to thrive in infancy, Female infertility, Secondary amenorrhea, Type II diabe... ORPHA:99413
Turner Syndrome
Pes planus, Failure to thrive in infancy, Female infertility, Secondary amenorrhea, Type II diabe... ORPHA:881
Mosaic Monosomy X
Pes planus, Failure to thrive in infancy, Female infertility, Secondary amenorrhea, Type II diabe... ORPHA:99228
Monosomy X
Pes planus, Failure to thrive in infancy, Female infertility, Secondary amenorrhea, Type II diabe... ORPHA:99226
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Hypotension, Elevated circulating creatinine concentration, Increased c... ORPHA:36234
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neu... OMIM:214500
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Small for gestatio... OMIM:227270
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Mevalonic Aciduria
Leukocytosis, Failure to thrive in infancy, Thrombocytopenia, Elevated circulating C-reactive pro... OMIM:610377
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Hyperostosis, Anemia, Acute leukemia, Epi... ORPHA:906
Griscelli Syndrome
Abnormality of neutrophils, Pedal edema, Abnormal circulating lipid concentration, Thrombocytopen... ORPHA:381
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Nathalie Syndrome
Abnormal EKG OMIM:255990
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly, Failure to thrive in infancy ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Failure to thrive OMIM:615597
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Weight loss ORPHA:79242
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Clubbing, Male infertility ORPHA:244
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300554
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, I... ORPHA:79277
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage,... ORPHA:464321
Vexas Syndrome
Thrombocytopenia, Arteritis, Elevated circulating C-reactive protein concentration, Macrocytic an... OMIM:301054
Sepsis In Premature Infants
Hypotension, Leukocytosis, Neutropenia, Decreased body weight, Thrombocytopenia, Tachycardia, Sma... ORPHA:90051
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Hypoplasia of the radius, Thrombocytosis, Hypoplasti... OMIM:105650
Roberts Syndrome
Craniosynostosis, Sandal gap, Wrist flexion contracture, Phocomelia, Complete duplication of thum... ORPHA:3103
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomegaly OMIM:150550
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Triphalangeal thumb, Pure red ... ORPHA:124
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Shwachman-Diamond Syndrome 2
Metaphyseal irregularity, Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, Ge... OMIM:617941
Crimean-Congo Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Epistaxis, Gastrointestinal hemorrhage ORPHA:99827
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Hypergonadotropic hypogonadism, Neutrop... OMIM:227646
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Boutonneuse Fever
Thrombocytopenia, Vasculitis, Abnormality of the plantar skin of foot, Leukopenia ORPHA:83313
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Flexion contracture, Elevated circulating creatine kinase concentration... OMIM:310200
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Bradycardia OMIM:617397
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Thrombocytopenia, Aplastic anemia, Bilateral radial aplasia, Abse... OMIM:300514
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Fanconi Anemia
Pes planus, Weight loss, Leukopenia, Anemia, Triphalangeal thumb, Micrognathia, Aplasia/Hypoplasi... ORPHA:84
Severe Combined Immu