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Gene: Cbfb MGI:99851

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

core binding factor beta

Synonyms:

PEA2, Pebpb2, Pebp2, PEBP2b

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Cbfb mutations

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

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

Human diseases associated with Cbfb (1 diseases)
Human diseases predicted to be associated with Cbfb (1578 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cleidocranial Dysplasia 2		Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099

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

Disease	Matching phenotypes	Source
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag...	ORPHA:98878
Cerebral Cavernous Malformations	Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation	OMIM:116860
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Abnormal thorax morphology, Hypoplasia of the thymus, Death in chil...	OMIM:200900
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Acromesomelic Dysplasia 2A	Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p...	OMIM:200700
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Acromesomelic Dysplasia, Grebe Type	Death in infancy, Bowing of the long bones, Aplasia/Hypoplasia of the thumb, Brachydactyly, Tarsa...	ORPHA:2098
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Polyhydramnios	OMIM:215550
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu...	ORPHA:331
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem...	OMIM:619897
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding	ORPHA:98880
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Asci...	ORPHA:99828
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P...	ORPHA:90064
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto...	OMIM:612840
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures	OMIM:611369
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob...	ORPHA:90039
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia	OMIM:182410
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I...	ORPHA:99827
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl...	OMIM:273800
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Cryptor...	OMIM:194350
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thoracic hypoplasia, Death in adolescence, Short long bone, Stillbirth,...	OMIM:619751
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage	OMIM:300049
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage, Pedal edema	ORPHA:84090
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Reduced number of i...	ORPHA:79284
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Ext...	OMIM:617021
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Elevated hepatic transaminase, Epistaxis, Cerebral hemorrhage, Prolonged proth...	OMIM:277450
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Thrombocytopenia, Leukocytosis, Pallor, Anemia	ORPHA:517
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Hydrops fetalis, Intracrania...	ORPHA:85212
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int...	ORPHA:49566
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Immunodeficiency 88	Eosinophilia	OMIM:619630
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Micrognathia, Bowing of the legs, ...	ORPHA:313855
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio...	ORPHA:449285
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morpholo...	ORPHA:2790
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Diaphyseal dysplasia, ...	OMIM:614727
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Kerion Celsi	Lymphadenopathy	ORPHA:499
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H...	ORPHA:231226
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm...	ORPHA:1354
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Lymphedema, Abnormal neutrophil count, Splenomegaly, Leuko...	ORPHA:3226
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia	OMIM:618886
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v...	OMIM:602271
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ...	OMIM:620300
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre...	ORPHA:1959
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ...	ORPHA:231214
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Femoral bowing, Short long bon...	OMIM:617022
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Pulmonary edema, Decreased mean corpuscular hemo...	ORPHA:244242
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Leukopenia, Thrombocytopenia	OMIM:243500
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic ve...	OMIM:215140
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Thrombocytosis, Pancy...	ORPHA:75564
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro...	OMIM:610539
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v...	OMIM:184260
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m...	OMIM:608940
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Cerebellar hemorrhage, Subdura...	ORPHA:97339
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage	OMIM:616430
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital...	OMIM:132400
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat...	OMIM:108721
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Asc...	ORPHA:284227
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Noonan Syndrome 12	11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th...	OMIM:618624
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B...	OMIM:615222
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brachydac...	ORPHA:2643
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Kyphosis, Prenata...	OMIM:618393
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly	OMIM:301081
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Malar prominence, Short neck, Hyper...	ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ...	ORPHA:163596
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb...	ORPHA:3319
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Thrombocytopenia, Leukocy...	OMIM:259720
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal...	ORPHA:3035
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia, Edema	OMIM:189800
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger, Thrombocytopenia, Micrognathia	OMIM:188025
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, St...	ORPHA:49827
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh...	ORPHA:98870
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Apl...	ORPHA:3082
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Rib fus...	ORPHA:1988
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Anterior rib cupping, Ovoid vertebral bodies,...	OMIM:260400
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Cohen Syndrome	Thoracic scoliosis, Short metacarpal, Lumbar hyperlordosis, Decreased response to growth hormone ...	OMIM:216550
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib ca...	OMIM:608154
Specific Granule Deficiency 2	Absent neutrophil specific granules, Brachydactyly, Death in infancy, Sandal gap, Anemia, Death i...	OMIM:617475
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho...	OMIM:102370
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Micrognathia, Met...	OMIM:214110
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Leukopenia, Neutropenia, Pancre...	OMIM:251000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Polyhydramnios	OMIM:613603
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutrope...	OMIM:616738
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Thrombocytopenia	OMIM:166990
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Abnormality of neut...	ORPHA:229717
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Micro...	ORPHA:2886
Propionic Acidemia	Hepatomegaly, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Dehydration, Cardiomyopathy,...	OMIM:606054
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteosclerosis, Di...	OMIM:122860
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Dental malocclusion, Hepatosplenomegaly, Anem...	ORPHA:210110
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Pancytopenia, Abnormal macrophage...	ORPHA:507
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Delayed eruption of teeth, Short metacarpal, Abnor...	ORPHA:950
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Dental malocclusion, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia	OMIM:259730
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Phosphoglycerate Dehydrogenase Deficiency	Adducted thumb, Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Palmoplantar blistering	OMIM:226735
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone...	OMIM:615633
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox...	ORPHA:2484
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor, Hypertrophic cardiomyo...	OMIM:613561
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex...	OMIM:618150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal...	OMIM:180870
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb...	OMIM:616435
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Upp...	OMIM:169400
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte...	ORPHA:439822
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial ef...	ORPHA:464329
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia	ORPHA:3004
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Aplastic Anemia	Bone marrow hypocellularity	OMIM:609135
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Edema, Autoimmune thrombocytopenia, Abnor...	ORPHA:324636
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Single transverse palmar crease, Intermittent thrombocytopenia, Perianal abscess, E...	OMIM:612541
Hypophosphatasia	Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, ...	ORPHA:436
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili...	ORPHA:1452
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Rhabdoid Tumor	Anemia, Hypertension, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb...	ORPHA:2307
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis...	ORPHA:494424
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Braddock-Carey Syndrome 2	Clinodactyly, Retrognathia, Thrombocytopenia	OMIM:619981
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol...	OMIM:618019
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Grant Syndrome	Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelvic girdle bone morp...	ORPHA:2097
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Grayish enamel, Carious teeth, Coxa ...	ORPHA:582
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Hepatosplenomegaly, Bell-shape...	OMIM:614592
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity	OMIM:618674
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Vertebral segmenta...	OMIM:611209
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Long...	OMIM:619151
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Myelofibrosis	Myeloproliferative disorder, Splenomegaly, Pallor, Purpura	OMIM:254450
Babesiosis	Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Leukopenia, ...	ORPHA:108
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Sandwich appearance of vertebral bodies, Femur fracture, Carious teet...	OMIM:259700
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, Talipes equin...	ORPHA:85279
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Abnormal rib morphology, Narro...	ORPHA:1703
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Decreased response to growth hormone stim...	ORPHA:763
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Cryptorchidism, Finger clinodactyly, Bilateral talipes equinovarus, Supernumerary rib...	ORPHA:2958
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Aicardi-Goutieres Syndrome 3	Death in childhood, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra...	OMIM:108720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R...	OMIM:210720
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Adv...	OMIM:614613
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fin...	OMIM:612350
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He...	ORPHA:2180
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab...	ORPHA:2021
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Decreased proportion o...	OMIM:618048
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi...	OMIM:300232
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Splenomega...	OMIM:608149
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276575
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,...	OMIM:113300
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ...	OMIM:617102
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia	ORPHA:420741
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Short tubular bones of the hand, Micrognathia, Coxa valga, Wide anterio...	ORPHA:85184
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Hypoplasia of the maxill...	ORPHA:776
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Single transverse palmar c...	ORPHA:915
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short palm, Antegonial notching of man...	OMIM:170390
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide anterior fo...	OMIM:269300
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop...	ORPHA:2662
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Abnormal metaphysis morph...	ORPHA:290
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Genu...	ORPHA:583
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy	OMIM:619302
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Lethal Congenital Contracture Syndrome Type 1	Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the...	ORPHA:1486
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy...	OMIM:611717
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Platyspondyly, Abnormal epiph...	ORPHA:90653
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios	OMIM:615368
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pectus excavatum, Perianal abscess, Cryptorchidism, Small hand, Pectus carinatum, Broad finger, C...	OMIM:614684
Becker Nevus Syndrome	Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Down-sloping shoulders, Camptodactyly of finger, Mic...	OMIM:114300
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,...	ORPHA:335
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie...	OMIM:224300
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Abnormal cartilage matrix, Neonatal death	OMIM:245650
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Pectus excav...	ORPHA:1798
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti...	OMIM:243150
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter...	ORPHA:60041
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl...	OMIM:605432
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Lumbar hy...	OMIM:250250
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis ...	OMIM:166300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax mor...	ORPHA:508542
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Supernumerary tooth, Short...	OMIM:190351
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276580
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Pectus carinatum, Platyspondy...	OMIM:259440
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow c...	ORPHA:93298
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flared metaphysis, ...	OMIM:215150
Aspergillosis	Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia, Pleural effusion	ORPHA:1163
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Pectus carinatum, Malar flattening, Broad thumb	ORPHA:261295
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C...	ORPHA:2414
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ...	OMIM:243700
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ...	OMIM:253010
Optic Atrophy 1	Pallor	OMIM:165500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr...	OMIM:618395
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, 2-3 toe...	OMIM:600920
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth, Anemia, Polyhydramnios	OMIM:241500
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond...	OMIM:256050
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver...	ORPHA:1427
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Mohr Syndrome	Short palm, Syndactyly, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Preaxial hand ...	OMIM:252100
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Mi...	ORPHA:958
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Mirage Syndrome	Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Anemia, Hypoplas...	OMIM:617053
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect...	ORPHA:175
Braddock-Carey Syndrome 1	Hyperlordosis, Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly, Enamel hypoplasia, T...	OMIM:619980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Death in infancy, Anterior rib cupping, Metaphyseal widening, Ge...	OMIM:617941
Martsolf Syndrome 1	Thoracic scoliosis, Short metacarpal, Hypogonadotropic hypogonadism, Lumbar hyperlordosis, Microg...	OMIM:212720
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger	ORPHA:2776
Smith-Kingsmore Syndrome	Rhizomelia, Thoracic hypoplasia, Short proximal phalanx of finger, Cryptorchidism, Wide anterior ...	OMIM:616638
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest...	OMIM:615777
Eiken Syndrome	Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Long thumb, Cl...	OMIM:600002
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidi...	OMIM:612463
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Erythroid hypoplasia, Short toe, Preaxia...	OMIM:620072
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowing, Thin ribs, Sl...	OMIM:259420
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Chylothorax, Cerebral hemorrhage	OMIM:620278
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Missing ribs, Abnormality of the spleen, Short neck, Abnormal rib morphology, Abnor...	ORPHA:1834
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho...	OMIM:612921
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,...	OMIM:613101
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, T l...	ORPHA:508533
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, ...	OMIM:230800
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Short neck, Cryptorchidism, Cholestasis, Anemia, Talipes equinova...	OMIM:608104
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Immunodeficiency 9	Death in infancy, Hypoplasia of the thymus, Amelogenesis imperfecta	OMIM:612782
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Death in infancy, Postaxial polydactyly, Splenomegaly, Cholestasis, H...	OMIM:614576
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Abn...	ORPHA:93262
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation...	ORPHA:1529
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Short neck, Pectus excavatum, Thrombocytopenia, Splenomegaly, Metaphyseal widening,...	OMIM:617303
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ...	ORPHA:3144
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Lumbar hyperlordosis, Abnormality of thyroid physiology, Ovoid ve...	ORPHA:1830
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c...	OMIM:119600
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Death in infancy, Abnormally ossified vertebrae, Micromel...	ORPHA:1318
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae...	OMIM:224690
Tibial Hemimelia	Absent tibia	OMIM:275220
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Malar flattenin...	ORPHA:2145
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of th...	ORPHA:73230
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Micrognathia, Pectus excavatum, Hypoplasia of the ...	ORPHA:193
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Rhizomelia, Mi...	OMIM:613848
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Short neck, Split hand, H...	OMIM:157900
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli...	OMIM:616229
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Sacral dimple, Micrognathia, Hypoplasia of ...	OMIM:615546
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363958
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem...	ORPHA:99931
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral musc...	OMIM:136760
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Aplastic...	OMIM:265800
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,...	OMIM:242900
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocyto...	OMIM:603585
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Renpenning Syndrome	Mandibular prognathia, Diabetes mellitus, Pectus excavatum, Abnormal thumb morphology, Abnormal r...	ORPHA:3242
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Hydrocele testis, Slender long bone, Increased serum testosterone level, Congenital ...	ORPHA:96181
Neurocutaneous Melanocytosis	Intracranial hemorrhage	ORPHA:2481
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol...	OMIM:300908
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Van Maldergem Syndrome 1	Short fourth metatarsal, Sacral dimple, Micrognathia, Hypoplasia of the maxilla, Wide anterior fo...	OMIM:601390
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Micrognathia, Short neck, Short thorax, Short foot, Narrow ch...	ORPHA:93299
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth	OMIM:619142
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Gracile Bone Dysplasia	Death in infancy, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, ...	OMIM:602361
Hemorrhagic Fever-Renal Syndrome	Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk...	ORPHA:340
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud phenomenon, Angio...	ORPHA:3260
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi...	ORPHA:2475
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triph...	OMIM:105650
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Micrognathia, Lateral clavicle hook, Pectus excavatum, Hypoplasia of the maxilla,...	OMIM:182212
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Hep...	OMIM:269860
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip...	ORPHA:192
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia	OMIM:610333
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Atelis Syndrome 1	Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia	OMIM:620184
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a...	ORPHA:35858
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Sandal gap, Single transverse palmar crease, Adrenal hypoplas...	OMIM:613177
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Increased density of long bone diaphyses, Antegon...	OMIM:305620
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th...	ORPHA:249
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Bell-shaped thorax, Thin ribs,...	OMIM:166210
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Pectus c...	OMIM:300676
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int...	ORPHA:394
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho...	ORPHA:1896
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C...	ORPHA:2769
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Anemia, Delayed erupti...	OMIM:620370
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno...	ORPHA:1488
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Lymphadenopathy	ORPHA:100024
Bone Marrow Failure Syndrome 4	Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short femur, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Decreas...	OMIM:612394
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Crypt...	OMIM:225500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat...	ORPHA:50945
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Lymphopenia, Thr...	OMIM:617591
Boomerang Dysplasia	Neonatal death, Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Bone Marrow Failure Syndrome 1	Bone marrow hypocellularity	OMIM:614675
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhyt...	ORPHA:3386
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Subdural hemorrhage, Polyhydramnios	OMIM:618291
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,...	OMIM:614091
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Anisospondyly, Cryptorchidism, Short long bon...	OMIM:224410
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph...	OMIM:231070
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp...	OMIM:252600
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip...	OMIM:156550
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnorm...	ORPHA:1120
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Micrognathia, Cryptorchidism, Ulnar bowing, Wide anteri...	OMIM:619135
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Beaded ribs, Bowing of t...	ORPHA:89936
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Rocker bottom foot, Coxa valga, Cryptorchidism, Postaxial hand polydactyly, Postaxi...	OMIM:301056
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Stillbirth	OMIM:152800
Meier-Gorlin Syndrome 4	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia,...	OMIM:613804
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Clinodact...	ORPHA:3103
Dislocation Of The Hip-Dysmorphism Syndrome	Deviation of finger, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation	ORPHA:2412
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p...	ORPHA:235
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc...	ORPHA:86839
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Decrea...	ORPHA:300298
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Horizontal ribs, Cryptorchidism, Bell-shaped thorax, Normochromic anemia, Neutropen...	OMIM:614857
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De...	ORPHA:101096
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Fraser Syndrome 2	Short thorax, Hypoplasia of the thymus, Short neck, Cutaneous syndactyly	OMIM:617666
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxi...	OMIM:226990
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Hurler Syndrome	Abnormal clavicle morphology, Hepatomegaly, Death in infancy, Abnormality of the tonsils, Camptod...	ORPHA:93473
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Abnormal rib morphology, Chol...	ORPHA:52
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy...	OMIM:200980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Senior-Loken Syndrome 8	Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation	OMIM:616307
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Cervical kyphosis, Tapered finger, Short neck, Small hand, Type II diabete...	ORPHA:401923
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum...	ORPHA:2462
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Heart ...	ORPHA:163979
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial eff...	ORPHA:292
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for...	ORPHA:2876
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Death in infancy, Micrognathia, Hepatic melanin-like lysosomal pigmentation...	OMIM:208085
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios	OMIM:618480
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Fractured radius, Micrognathia, Beaded ribs, Decreased fibul...	OMIM:616897
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Portal hypertension, Congenital hepatic fibrosis, Absent toe, S...	ORPHA:974
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Long fingers, Bil...	OMIM:617746
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli...	ORPHA:79107
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Thymus hyperplasia, Arachnodactyly, Micrognathia, Talipes equinovarus	OMIM:619036
Focal Segmental Glomerulosclerosis 1	Edema, Hypertension, Pleural effusion, Ascites, Anemia	OMIM:603278
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Hyperlordosis, Abnormal rib morphology,...	ORPHA:3068
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Cervical ribs, T...	OMIM:601389
Letterer-Siwe Disease	Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Anemia	OMIM:246400
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Scoliosis	OMIM:218000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide...	OMIM:617925
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl...	OMIM:617895
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Leukocytosis, Neutropenia, ...	ORPHA:90051
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Short neck, Clubbing, ...	ORPHA:96123
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal myocardiu...	ORPHA:77259
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc...	OMIM:601216
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Thrombocyto...	ORPHA:90062
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Thin ribs, Slender long bone, Retrognathia, Brachydactyly	OMIM:618265
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognath...	OMIM:257850
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Pleural effusion, Pericardial effusion	ORPHA:48686
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Scapular winging, Short metacarpal, Ivory epiphyses of the distal phal...	OMIM:190350
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Aplastic anemia, Absent thumb, Short neck, Bila...	OMIM:300514
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Cyclic Neutropenia	Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent...	ORPHA:2686
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Carious teeth, Splenomegaly, Impaired ADP-induced p...	OMIM:608233
Lig4 Syndrome	Pancytopenia, Cryptorchidism, Hypothyroidism, Acute lymphoblastic leukemia, Type II diabetes mell...	OMIM:606593
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Micrognathia, Hypoplasia...	OMIM:601812
Tarp Syndrome	Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Atrial septal defect, Hepatic failure, ...	OMIM:311900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral column, Mala...	OMIM:109120
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Aplasia/...	OMIM:613803
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered finger, Pectus exc...	ORPHA:2215
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Brachydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, ...	OMIM:300534
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Death in childhood, Hepatomegaly, Thoracolumbar kyphoscoliosi...	OMIM:252500
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the radiu...	ORPHA:245
Trisomy 13	Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormal rib morphology, Abnormal pelvic gi...	ORPHA:3378
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Hypoplasia of the maxilla, Cr...	ORPHA:178303
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles	OMIM:606220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Sclerosteosis 1	Mandibular prognathia, Cortically dense long tubular bones, Syndactyly, Sclerotic scapulae, Broad...	OMIM:269500
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Ve...	OMIM:617952
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Vertebral fusion, Ovarian fibroma, Down...	OMIM:109400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:600081
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia	OMIM:611490
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Irregular femoral epiphysis, Patellar ap...	OMIM:613805
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Short cla...	OMIM:212112
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Fanconi Anemia, Complementation Group F	Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ...	OMIM:603467
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Restrictive Dermopathy 2	Microretrognathia, Hypoplastic facial bones, Short clavicles, Overtubulated long bones	OMIM:619793
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Cryptorchidism, Kyphosis, Hip dysplasia, Increased mea...	ORPHA:261250
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Crypt...	ORPHA:2588
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, Cryptorch...	OMIM:264090
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl...	OMIM:619698
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Camptodactyly of finger,...	ORPHA:90652
Takenouchi-Kosaki Syndrome	Overlapping toe, Proximal placement of thumb, Increased mean platelet volume, Tapered finger, Cry...	OMIM:616737
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypop...	OMIM:103580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Hypoplasia of the thymus, Hypothyroidism, Hypoparathyroidism, Hyperthyr...	ORPHA:567
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Death in infancy, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, H...	OMIM:619644
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Dea...	ORPHA:800
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
Xylt1-Cdg	Hepatomegaly, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles...	ORPHA:370930
Ataxia-Telangiectasia	Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni...	OMIM:208900
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch...	OMIM:227645
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, Fo...	OMIM:615559
Cholesteryl Ester Storage Disease	Hepatomegaly, Death in infancy, Adrenal calcification, Bone-marrow foam cells, Portal hypertensio...	OMIM:278000
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ...	ORPHA:536545
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ...	OMIM:143095
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Micrognathia, ...	OMIM:620005
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Anemia, Anemic pallor, Hematochezia	ORPHA:329971
Lathosterolosis	Abnormal thoracic spine morphology, Hepatomegaly, Toe syndactyly, Micrognathia, Intrahepatic chol...	ORPHA:46059
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Short neck, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, W...	OMIM:606003
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ...	OMIM:605282
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Alg8-Cdg	Anemia, Talipes equinovarus, Camptodactyly, Thrombocytopenia, Brachydactyly	ORPHA:79325
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukopenia, Triphalangeal thu...	ORPHA:124
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib...	ORPHA:96061
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Thin ribs, Th...	ORPHA:2463
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short neck, Elevated circulating thyroid-stimulating...	OMIM:612462
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall...	ORPHA:263455
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal...	ORPHA:3015
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Splenomegaly, Mediastinal lymph...	OMIM:618534
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch...	OMIM:600901
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr...	OMIM:600092
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Hip dislocation...	ORPHA:481152
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Micrognathia, Short neck, Short metatarsal, Hepatic fibrosis, Narrow chest, Clinodac...	OMIM:266920
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Malar flattening, Short pha...	OMIM:600430
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b...	ORPHA:83
Wells Syndrome	Vasculitis, Eosinophilia, Edema	ORPHA:901
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El...	ORPHA:79445
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, Ov...	OMIM:618188
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Pectus ex...	OMIM:253220
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger...	ORPHA:261323
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening...	OMIM:602535
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal mesentery morphology, Abnorm...	ORPHA:2167
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:213980
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia	ORPHA:3099
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ...	ORPHA:79282
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa...	ORPHA:794
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, F...	OMIM:610682
Cowden Syndrome 1	Hyperthyroidism, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Thyroiditis...	OMIM:158350
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiureti...	ORPHA:79330
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Diabetes me...	ORPHA:206572
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Absent circulating B cells	OMIM:620282
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abnormal form ...	ORPHA:93941
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormality of the thyroid gland, Abnormal rib morphology, Hemivertebrae, Abnormal fo...	ORPHA:2234
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, En...	ORPHA:289157
Familial Calcium Pyrophosphate Deposition	Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage	ORPHA:1416
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch...	OMIM:227650
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Micrognathia, Cryptorchidism, Kyphosis, Increas...	OMIM:619005
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Death in infancy, Cervical hemivertebrae, Decre...	OMIM:619004
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx of finger, Anemia	OMIM:208060
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Hypoplasia of the maxilla, Spinal canal stenosis, Broad palm, Scoliosis, Br...	OMIM:277600
Hurler Syndrome	Hepatomegaly, Hypoplasia of the femoral head, Coxa valga, Short neck, Splenomegaly, Metaphyseal w...	OMIM:607014
Preeclampsia	Type I diabetes mellitus, Thrombocytopenia, Abnormality of the hepatic vasculature, Polycystic ov...	ORPHA:275555
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation,...	ORPHA:109
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:304120
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Vertebral ...	ORPHA:2970
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Cupped ribs, Crypto...	ORPHA:1145
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Abnor...	ORPHA:861
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Single transverse palmar crease, Proximal placement of thumb, Microgna...	OMIM:122470
Wilson Disease	Back pain, Hepatomegaly, Abnormality of the hand, Thrombocytopenia, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Decreased circulating parathyroid hormone level, Bowing of the legs, Enlargeme...	OMIM:241530
Atelis Syndrome 2	Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Elevated circulating thyr...	OMIM:620185
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate...	ORPHA:20
Felty Syndrome	Hepatomegaly, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellula...	ORPHA:47612
Medulloblastoma	Elevated hepatic transaminase, Cerebellar hemorrhage	ORPHA:616
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Split hand, Fibrous syngnathia, ...	ORPHA:1300
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Hypoplasia...	ORPHA:1775
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Sandal gap, Ulnar deviation of the wrist, Proximal ...	ORPHA:79324
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Metaphyseal sclerosis, Genu valgum, Anemia, Short femoral neck, Bone ma...	OMIM:612199
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Supernumerary tooth, Postaxial hand polydactyl...	OMIM:617088
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Abnormality of the hand, Thrombocytopenia, Short...	ORPHA:333
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Precocious puberty, Rib fusion, Smal...	ORPHA:50
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Polyhydramnios, Cardiomegaly, Abnormal cerebral vascular morphology...	ORPHA:363705
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidis...	OMIM:613990
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi...	OMIM:618775
Gm1-Gangliosidosis, Type I	Hepatomegaly, Death in infancy, Thickened ribs, Short neck, Splenomegaly, Kyphosis, Vacuolated ly...	OMIM:230500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly...	OMIM:263520
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Micrognathia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hy...	OMIM:608612
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno...	ORPHA:1041
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Dental malocc...	OMIM:610733
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Abnormality of the ...	ORPHA:47
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Cog1-Cdg	Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valga, Short nec...	ORPHA:263508
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Postaxial foot polyd...	OMIM:258850
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h...	ORPHA:210136
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hepatosplenomegaly, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac ...	ORPHA:79255
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Pericardial effusion, Thrombocytopenia, Prolonged QTc interval, Anemia	ORPHA:231111
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Pyknoachondrogenesis	Craniofacial hyperostosis, Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnor...	ORPHA:3003
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Abnormal rib morphology, Small hand, Spina bifida occulta, Short foot, Retrognathia, ...	ORPHA:488434
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the maxilla, Short metatarsal, Spinal canal...	OMIM:608328
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Splenomegaly, Abnormal rib mor...	ORPHA:667
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Delayed eruption of te...	ORPHA:87
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Overlapping toe, Short neck, Hypoplasia of the maxilla, ...	OMIM:139210
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Cryptorchidi...	ORPHA:2554
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr...	ORPHA:50814
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Frank-Ter Haar Syndrome	Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,...	OMIM:249420
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Pectus excavatum, Hypoplas...	OMIM:309520
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, Vertebral segmentation defect, Cli...	ORPHA:373
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Hypoplasti...	OMIM:614813
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ...	OMIM:206920
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Single transverse palma...	OMIM:269150
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Abnormal rib morpholog...	ORPHA:3301
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ...	OMIM:134780
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Short finger	OMIM:312150
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Short metacarpal, Aplastic anemia, Abnormal dental enamel morphology, ...	ORPHA:221008
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Short neck, Camptodactyly of toe, Dislocated radial head, Syndactyly, Arachnodactyl...	OMIM:265000
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Scapular winging, Thoracic scoliosis, Hip contracture, Shoulder flexion contracture...	OMIM:620369
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal rib morphology, Anterior hypopituitarism, Central diabetes insipidus...	ORPHA:280195
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen...	ORPHA:2519
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch...	ORPHA:398124
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Cole-Carpenter Syndrome 2	Microretrognathia, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing, Denti...	OMIM:616294
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Wiedemann-Steiner Syndrome	Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal interphalangeal joint of t...	OMIM:605130
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Prolidase Deficiency	Hepatomegaly, Micrognathia, Splenomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia	OMIM:170100
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy...	ORPHA:169090
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles	OMIM:168550
Scarf Syndrome	Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal form of the vertebral bodies, Pectus...	ORPHA:3134
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Malar flattening, Preaxial hand polydactyly, Micrognathia	ORPHA:79113
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy	ORPHA:397596
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t...	ORPHA:1507
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
3Mc Syndrome 2	Prominence of the premaxilla, Limited elbow movement, Cryptorchidism, Hip dislocation, Radioulnar...	OMIM:265050
Boutonneuse Fever	Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thro...	ORPHA:83313
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental enamel morphology, Aplastic clavicle, Micrognathia,...	ORPHA:85199
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Stroke-like episode, Intracra...	ORPHA:86309
Cowden Syndrome 5	Hyperthyroidism, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Thyroiditis...	OMIM:615108
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h...	OMIM:307500
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Anterior pituitary hy...	OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Malar flattening, Tapered finger, Precocious puberty, Hyperlordosis, Limited elbow ...	OMIM:301066
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu...	OMIM:175780
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size	ORPHA:93950
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger	OMIM:167730
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto...	ORPHA:83601
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume	OMIM:300048
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Jacobsen Syndrome	Micrognathia, Pectus excavatum, Missing ribs, Cryptorchidism, Short neck, Clinodactyly of the 5th...	OMIM:147791
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Preaxial ...	OMIM:227646
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger	ORPHA:228396
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Abnormal rib morphology, Micromelia	ORPHA:2772
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism...	OMIM:249270
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Single transverse pal...	OMIM:130070
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Clinodactyly, Hypothyroidism, Metatarsus adductus	ORPHA:293939
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Thoracic hypoplasia, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatosplenomega...	OMIM:608013
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Missing ribs, Short ne...	ORPHA:2308
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Tapered finger, Abn...	ORPHA:487796
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Short metacarpal, Aplastic anemia, Abnormal dental enamel morphology, ...	ORPHA:221016
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Acetabular...	OMIM:616462
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m...	ORPHA:247245
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Thin ribs, Short finger	OMIM:253290
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Thrombocytopenia, Death in childhood	OMIM:615597
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Scoliosis, Thrombocytopenia	OMIM:616577
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hepatomegaly, Death in infancy, Femur fracture, Splenomegaly, Death in ch...	OMIM:612301
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis	ORPHA:348
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Micrognathia, Trismus, Brachioradialis areflexia, Leukopenia, Neutropenia, Hepatic st...	OMIM:616271
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Mediastinal lymphadenopathy, Thrombo...	ORPHA:169105
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Micrognathia, Malar prominence, 2-3 toe synda...	OMIM:251260
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnormal finger mo...	ORPHA:2636
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thoracic scoliosis, Thickened ribs, Epiphyseal dysplasia, Pilonidal sinus, Short ne...	OMIM:252940
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Cowden Syndrome 6	Hyperthyroidism, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Thyroiditis...	OMIM:615109
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Cog4-Cdg	Cirrhosis, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J...	ORPHA:137675
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Precoci...	OMIM:304050
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Short neck, Cryptorchidism, Hum...	ORPHA:3404
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag...	ORPHA:90324
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Shor...	OMIM:263650
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Tapered finger, Splenomegaly, Micronodular cirrhosis, Sc...	OMIM:301072
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Dravet Syndrome	Pallor	ORPHA:33069
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Bi...	OMIM:180849
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Hypoplasia of the maxi...	OMIM:608156
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Abnormality of the pancreas, Preaxial...	ORPHA:887
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Mosaic Trisomy 9	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Asplenia, Micromelia, Cryptorchidism, ...	ORPHA:99776
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Spl...	ORPHA:3202
Dextrocardia	Congenital hip dislocation, Abnormality of the spleen, Abnormal rib morphology, Abnormality of ab...	ORPHA:1666
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Single transver...	OMIM:303600
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, A...	ORPHA:2538
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognat...	OMIM:188400
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly,...	OMIM:619269
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Atypical or prolonged he...	ORPHA:83471
Immunodeficiency 7	Splenomegaly, Hypereosinophilia, Lymphadenopathy	OMIM:615387
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morpholo...	ORPHA:90362
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Pectus excavatum, Hypoplasia of the maxilla, Cryp...	ORPHA:1101
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Parotitis, Camptodactyly of finger, Microcytic...	OMIM:256040
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Down-sloping shoulders, Micrognathia, Coxa valga, Insulin-resistant diabetes mellit...	OMIM:248370
Mevalonic Aciduria	Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating hepatomegaly, Fluctuating splenomegaly...	OMIM:610377
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Combined Oxidative Phosphorylation Deficiency 55	Single transverse palmar crease, Anemia, Talipes equinovarus, Thrombocytopenia, Genu varum	OMIM:619743
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Flexion contracture of finger, Overlapping toe, Single transverse palmar crease, Pectus...	ORPHA:254528
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Thickened ribs, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, A...	ORPHA:2658
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thum...	ORPHA:84
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia	OMIM:251290
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Short distal phalanx of finger	ORPHA:2095
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Hemolytic anemia, ...	OMIM:619487
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Abno...	ORPHA:2975
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Rapp-Hodgkin Syndrome	Syndactyly, Supernumerary nipple, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syn...	OMIM:129400
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Chime Syndrome	Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl...	ORPHA:3474
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Pectus excavatum, Craniofa...	OMIM:300373
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Beakin...	OMIM:252930
Relapsing Fever	Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Cerebrofacioarticular Syndrome	Syndactyly, Micrognathia, Hypoplasia of the maxilla, Absence of pubertal development, Talipes equ...	ORPHA:314679
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Dilatation of the si...	ORPHA:1054
Zika Virus Disease	Wrist swelling, Miscarriage, Thrombocytopenia	ORPHA:448237
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Enlarged Parietal Foramina	Broad thumb, Short clavicles	ORPHA:60015
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pe...	ORPHA:199241
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Micrognathia	OMIM:601809
Pediatric-Onset Graves Disease	Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse ...	ORPHA:525731
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Micrognathia, Death in infancy, Abnormal dental ename...	ORPHA:534
Yellow Fever	Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot...	ORPHA:99829
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Cryptorchidism, Rib f...	ORPHA:2990
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Pancytopenia, Thickened ribs, Short neck, Pectus excavatum, Hepatosplenome...	ORPHA:309282
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha...	ORPHA:540
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean co...	OMIM:127550
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Thickened ribs, Ovoid thoracolumbar vertebrae	OMIM:252920
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Cryptorchidism, Rib fu...	OMIM:148050
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly, Crypt...	ORPHA:251066
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Type I diabetes...	ORPHA:436252
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Palmoplantar keratoderma, 2-3 toe syndactyly, Supernumerary nipple	OMIM:106260
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the hand, Micrognathia, Pectus excavatum, Cryptorchidism, Supernumera...	OMIM:234100
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Nephroblastoma	Lymphadenopathy	ORPHA:654
Mandibuloacral Dysplasia	Micrognathia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypoplasia of teeth, Osteoly...	ORPHA:2457
Stt3B-Cdg	Cryptorchidism, Thrombocytopenia	ORPHA:370924
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Short neck, Narrow chest, Hepatomegaly, Syndactyly, Rhizomelia, Biliar...	OMIM:613610
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Genu valgum, Hypoplasia of ...	ORPHA:560
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Micrognathia, Pectus excavatum, Thrombocytopenia, Persistence of prim...	ORPHA:2785
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia, Micrognathia	ORPHA:1237
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphad...	OMIM:603553
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79444
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Nance-Horan Syndrome	Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short...	OMIM:302350
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Short clavicles	OMIM:619322
Monosomy 9Q22.3	Delayed eruption of teeth, Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Palmar pits, ...	ORPHA:77301
Fryns Syndrome	Microretrognathia, Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of thumb, Sh...	OMIM:229850
Gaucher Disease, Type Ii	Hepatomegaly, Death in infancy, Splenomegaly, Trismus, Anemia, Thrombocytopenia	OMIM:230900
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Copper accumulation in liver, Anemia, Death in childhood, Elevated hepatic iron...	OMIM:614946
Cinca Syndrome	Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphyseal chondromatosis of ra...	ORPHA:99646
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Prominence of the premaxilla, Wide anterior fontanel	OMIM:614886
Scarf Syndrome	Barrel-shaped chest, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Pectus ca...	OMIM:312830
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Long clavicles, Arachnodactyly, Overlapping toe, Microgna...	ORPHA:83617
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Palmoplantar hyperkeratosis, Hepatic fibrosis, Bone...	OMIM:224230
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Prominent fingertip pads, Scoliosis, Clinodactyly of the 2nd finger	ORPHA:251061
Stickler Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, Micrognathia, Hypoplasia ...	ORPHA:828
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb...	OMIM:616433
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Persistence of primary teeth, ...	ORPHA:2044
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Carious teeth, Abn...	ORPHA:2908
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervic...	OMIM:617159
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla	OMIM:618302
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Pectus excavatum, Hypoplasia of the maxilla, Su...	OMIM:211380
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit...	ORPHA:740
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Ab...	ORPHA:2092
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Accessory s...	OMIM:194190
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Talipes equinovarus, Neutropenia, Throm...	OMIM:277380
Noonan Syndrome 1	Pectus excavatum of inferior sternum, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic l...	OMIM:163950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Micrognathia, Short neck, Cryptorchidism, Kyphosis, Dental malocclusio...	OMIM:616894
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Fused cervical vertebrae, Flaring of rib cage,...	OMIM:612852
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Thrombocytopenia	OMIM:613845
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Micrognathia, Wide anterior fontanel, Short toe, Recurrent mandibular subluxations, Limb undergro...	OMIM:225410
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Palmoplantar hyperkeratosis, Leukopenia, Hepatic fibrosis, Bone ma...	OMIM:613989
Heme Oxygenase 1 Deficiency	Asplenia, Cervical lymphadenopathy, Lymphadenopathy	OMIM:614034
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Sandal gap, Elevated hemoglobin A1c, Micrognathia, Pectus excavatum, Decreased fibu...	OMIM:619127
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Hepatoblastoma, Broad ribs...	ORPHA:798
Fanconi Anemia, Complementation Group I	Pallor, Neutropenia	OMIM:609053
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Broad hallux, Single trans...	OMIM:620186
Proximal 16P11.2 Microdeletion Syndrome	Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology	ORPHA:261197
Marburg Hemorrhagic Fever	Dehydration, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, ...	ORPHA:99826
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Capitate-hamate fusion, ...	OMIM:304150
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia	OMIM:620157
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pancytopenia, Pectus excavatum, Abnormality of the spleen, Thrombocytopenia, Splen...	ORPHA:2072
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p...	ORPHA:59315
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Thin ribs, Neonatal death,...	OMIM:300219
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla	OMIM:618737
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Ventricular sept...	ORPHA:26793
Goldberg-Shprintzen Syndrome	Tapered finger, Hypoplasia of the maxilla, Short neck, Increased femoral anteversion, Small hand,...	OMIM:609460
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the endocrine system, Abnormality of the spleen, Mediastina...	ORPHA:228123
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Death in infancy, Thrombocytopenia, Death in childhood	OMIM:611126
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Miscarriage, Hypersplenism, Thrombocytopenia, Leukocyt...	ORPHA:1304
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Thrombocytopenia, Hepatosplenomegaly, Pect...	ORPHA:505248
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Death in infancy, Splenomegaly, Cholestasis, L...	OMIM:300972
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal...	ORPHA:280
Peters-Plus Syndrome	Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:261540
Adenohypophysitis	Orthostatic hypotension, Pallor, Normochromic anemia	ORPHA:95512
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the vertebral spinous pro...	ORPHA:1299
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of...	ORPHA:544488
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Avian Influenza	Miscarriage, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Restrictive Dermopathy 1	Natal tooth, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, Kyphoscoliosis, Thin clavicles...	OMIM:275210
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal clavicle morphology, Craniofacial hyperostosis, Adenoiditis, Avascular nec...	ORPHA:581
Lowry-Maclean Syndrome	Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of t...	ORPHA:2409
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Persistence of primary teeth...	ORPHA:97360
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Adv...	ORPHA:818
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Cdags Syndrome	Malar flattening, Kyphosis, Short ribs, Short clavicles	OMIM:603116
Combined Immunodeficiency Due To Zap70 Deficiency	Eosinophilia, Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg...	OMIM:208150
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Arachnoid Cyst	Subarachnoid hemorrhage	ORPHA:2356
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinod...	ORPHA:744
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
Pituitary Apoplexy	Hypertension, Normochromic anemia, Pallor, Hypotension	ORPHA:95613
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Splenomegaly, Prolonged neonatal jaundice, Hypothyroidism, Thro...	OMIM:225750
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:3322
Panhypophysitis	Orthostatic hypotension, Pallor, Normochromic anemia	ORPHA:95513
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Cholelithiasis, Vertebral ...	OMIM:263700
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Po...	ORPHA:2969
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Bell-shaped thorax, Coat hanger sign of rib...	ORPHA:254519
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Thickened ribs, Camptodactyly of finger, Splenomegaly, Enlarged tonsils, Temporoman...	ORPHA:217085
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ...	OMIM:209885
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorchidism, Posta...	ORPHA:261112
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology	ORPHA:207
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal ble...	ORPHA:167
Severe Congenital Nemaline Myopathy	Abnormal thorax morphology, Adducted thumb, Thin ribs	ORPHA:171430
Turnpenny-Fry Syndrome	Mandibular prognathia, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered fi...	OMIM:618371
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Thickened ribs, Camptodactyly of finger, Splenomegaly, Enlarged tonsils, Temporoman...	ORPHA:217093
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the e...	ORPHA:3384
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Micrognathia, Short neck, Microvesicular hepatic s...	OMIM:300855
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Scoliosis, Thrombocytopenia	ORPHA:457351
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Trisomy 18	Microretrognathia, Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Abnormal ...	ORPHA:3380
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Decreased serum leptin, Micrognathia, Limited elbow movement, Dental malocclus...	OMIM:614008
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger	ORPHA:2399
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Kyphoscolio...	OMIM:136140
Non-Functioning Pituitary Adenoma	Anemia of inadequate production, Pallor, Hypotension	ORPHA:91349
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short rib...	OMIM:616546
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Pancytopenia, Edema, Hematemesis, Splenomegaly, Pericardial effus...	OMIM:615846
Incontinentia Pigmenti	Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor	OMIM:308300
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Pectus excavatum, Thrombocytopenia, Splenomegaly, Micrognathia, ...	OMIM:619525
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia	OMIM:616367
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Distal Deletion 19P	Hypoplasia of the maxilla, Long toe, Arachnodactyly	ORPHA:96129
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, He...	ORPHA:391487
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor	OMIM:606812
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia	OMIM:615758
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Zttk Syndrome	Absent gallbladder, Hypoplasia of the maxilla, Kyphosis, Rib fusion, Small hand, Hemivertebrae, S...	OMIM:617140
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palmoplantar hyperk...	ORPHA:2907
Charge Syndrome	Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat...	OMIM:214800
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Anterior pit...	OMIM:610829
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Retrognathia, Thin ribs	ORPHA:456328
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Miscarriage, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplas...	ORPHA:306542
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no...	OMIM:312870
Juvenile Polyposis Of Infancy	Refractory anemia, Clubbing of fingers, Midclavicular hypoplasia, Broad thumb, Anemia, Broad phal...	ORPHA:79076
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bacterial Toxic-Shock Syndrome	Sinusitis, Abscess, Peritonitis, Hepatitis, Increased circulating myelocyte count, Abnormality of...	ORPHA:36234
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax, Hepatic fibrosis, Hepa...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax, Hepatic fibrosis, Hepa...	ORPHA:99228
Monosomy X	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax, Hepatic fibrosis, Hepa...	ORPHA:99226
Turner Syndrome	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Enlarged thorax, Hepatic fibrosis, Hepa...	ORPHA:881
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys...	OMIM:619727
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Absence of Stensen duct, Decreased response to growth hormone stimulation test, H...	OMIM:604292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septa...	OMIM:618280
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di...	OMIM:182250
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Overlapping toe, Kyphoscoliosis, Hypoplasia of the maxilla, Bilateral cryp...	OMIM:617402
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage	ORPHA:139417
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Shigellosis	Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic hemolytic anemia, Splenic absce...	ORPHA:810
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Microretrognathia, Mesoaxial polydact...	ORPHA:672
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Pancreatitis...	ORPHA:544482
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Short fifth metatarsal, Anterior pituitary hypopl...	OMIM:619841
Omenn Syndrome	Splenomegaly, Eosinophilia, Lymphadenopathy	ORPHA:39041
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormality of the cervical spine, Dysgerminoma	OMIM:123500
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd...	OMIM:601358
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased r...	ORPHA:699
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla,...	ORPHA:3044
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Pectus excavatum, Hypoplasia ...	OMIM:259050
Degcags Syndrome	Hepatomegaly, Tachycardia, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus,...	OMIM:619488
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Abnormality of the spleen, Cryptorchidism, Hypothyroid...	ORPHA:1606
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:241310
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega...	ORPHA:50918
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Rift Valley Fever	Back pain, Miscarriage, Jaundice, Hepatitis, Anemia, Thrombocytopenia	ORPHA:319251
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit...	ORPHA:731
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis	OMIM:105830
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Supernumerary nipple,...	OMIM:113620
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery s...	ORPHA:99125
Lujo Hemorrhagic Fever	Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Broad hallux, Hypoplasia of the ...	OMIM:614188
Autosomal Dominant Centronuclear Myopathy	Cryptorchidism, Miscarriage, Proximal muscle weakness in upper limbs, Thin ribs	ORPHA:169189
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Absence of Stensen duct, Decreased response to growth hormone stimulation test, H...	OMIM:129900
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Wilson Disease	Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Thrombocytopenia, Atypical or prolonged hepat...	OMIM:277900
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Absent gallbladder, Hypoplastic scapulae, Sacral dimple, Abn...	ORPHA:3310
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Cutis Laxa, Autosomal Recessive, Type Ib	Pectus excavatum, Prominence of the premaxilla, Arachnodactyly, Micrognathia	OMIM:614437
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin...	ORPHA:2298
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the zygomatic b...	ORPHA:920
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Short neck, Acute leukemia, Retrognathia, Thromboc...	ORPHA:647
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph...	ORPHA:653
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism	OMIM:601499
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Alagille Syndrome 1	Hypoplasia of the ulna, Hepatocellular carcinoma, Abnormal rib morphology, Hemivertebrae, Cholest...	OMIM:118450
Hardikar Syndrome	Hepatomegaly, Intrahepatic bile duct cysts, Decreased serum insulin-like growth factor 1, Cholang...	OMIM:301068
Charge Syndrome	Delayed eruption of teeth, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morpholo...	ORPHA:138
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr...	ORPHA:31150
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo...	ORPHA:79277
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P...	ORPHA:91347
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly, Abnormal retinal art...	ORPHA:51608
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Hypoplasi...	ORPHA:500150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Thin ribs, Platy...	OMIM:225400
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Tick-Borne Encephalitis	Back pain, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical...	OMIM:157800
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, A...	ORPHA:79318
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Carious teeth, Cryptorchidism, Anemia, Leukopenia, Bone mar...	OMIM:305000
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Thyroiditis, Lymphaden...	ORPHA:289390
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Abnormal vertebral morphology, Preaxial hand polydactyly, P...	ORPHA:857
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Abnormality of the hypothalamus-pituitary axis	ORPHA:782
Esophageal Atresia	Tetralogy of Fallot, Pallor, Coarctation of aorta	ORPHA:1199
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Postaxial hand po...	ORPHA:2166
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Pagod Syndrome	Abnormal clavicle morphology, Death in infancy, Abnormality of the spleen, Abnormal rib morpholog...	ORPHA:991
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Pancreatitis, Abnormality of neutrophils	ORPHA:36426
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Missing ribs, Cry...	OMIM:206900
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Toxic Epidermal Necrolysis	Thrombocytopenia, Pancreatitis, Anemia, Neutropenia	ORPHA:537
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Polyhydramnios	OMIM:613406
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemorrhage, Hepatic cysts, Pulmonary...	ORPHA:805
Adult-Onset Still Disease	Cartilage destruction, Arthritis	ORPHA:829
Kinsship Syndrome	Osteopenia, Death in infancy, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypo...	OMIM:619297
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia	ORPHA:293978
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Thrombocytopenia	OMIM:301050
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchid...	OMIM:606170
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Cryptorchidism, Wide anterior fon...	OMIM:607872
Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Delayed...	ORPHA:355
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Lysinuric Protein Intolerance	Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosple...	ORPHA:470
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:77293
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Eosinophilia, Portal hypertension, Di...	ORPHA:797
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc...	ORPHA:221139
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Natal tooth, Camptodactyly of finge...	ORPHA:1662
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis, Breast aplasia	ORPHA:238468
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Lymphadenopathy	ORPHA:293173
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, H...	OMIM:164210
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ...	ORPHA:79078
Goodpasture Syndrome	Pallor, Anemia, Pulmonary hemorrhage	OMIM:233450
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Abnormal palmar dermato...	OMIM:309800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs	OMIM:614833
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospleno...	ORPHA:51
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Hypoplasia of the maxilla, Aplasia/Hypoplastia of the eccrine sweat glands, Taurod...	OMIM:305100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis	ORPHA:29207
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Camptodact...	OMIM:601803
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischem...	ORPHA:286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Absent circulating B cells	OMIM:307200
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce...	OMIM:619381
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Decreased response to growth hormone stimulation test	OMIM:180500
Holoprosencephaly 2	Aplasia of the premaxilla, Adrenal hypoplasia, Scoliosis, Malar flattening, Diabetes insipidus, A...	OMIM:157170
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Decreased eosinophil count, Abnormal lymph node morphology	ORPHA:99889

Histopathology

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

There is no histopathology data for Cbfb

IMPC related publications

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

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

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cbfb^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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