Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gelsolin
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Gsn 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyloidosis, Finnish Type
Cardiomyopathy OMIM:105120
Agel Amyloidosis
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Sleep apnea ORPHA:85448

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Petechiae, Recurrent cutaneous abscess for... OMIM:619374
Dysplasia Of Head Of Femur, Meyer Type
Flattened femoral head, Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossif... ORPHA:168621
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... OMIM:166600
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Petechiae, Osteopetrosis, Epistaxis, Anemia, Splenomegaly, Hepatosplenomegaly, Recu... OMIM:612840
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Chronic rhinitis due to narrow nasal airway, Anemia, Diaphys... OMIM:259710
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteoscleros... OMIM:607634
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Arthritis, Abnormal... ORPHA:564003
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... OMIM:259700
Osteopetrosis, Autosomal Recessive 4
Petechiae, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytop... OMIM:611490
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleedi... OMIM:155100
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet... OMIM:231200
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Aplasia Cutis Congenita
Abnormality of bone mineral density, Toe syndactyly, Prolonged bleeding time, Finger syndactyly ORPHA:1114
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... ORPHA:231393
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Fechtner syndrome
Menorrhagia, Neutrophil inclusion bodies, Nephritis, Leukocyte inclusion bodies, Prolonged bleedi... OMIM:153640
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia,... OMIM:266265
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,... ORPHA:566943
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... OMIM:173470
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, P... OMIM:619271
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... ORPHA:849
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Leukemia, Metaphyseal irregularity, Pancytopenia, Bone marrow hyp... ORPHA:811
Slc35A1-Cdg
Neutropenia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules... ORPHA:238459
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... ORPHA:166119
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Von Willebrand Disease, Type 3
Menorrhagia, Thrombocytopenia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal ble... OMIM:277480
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pa... OMIM:259720
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis, Abnormality of the metaphysis ORPHA:1522
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Chronic otitis media, Bone marrow hypocell... ORPHA:3226
Thrombocytopenia, Paris-Trousseau Type
Radial deviation of finger, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Clinoda... OMIM:188025
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Myh9-Related Disease
Menorrhagia, Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Spontaneous,... ORPHA:182050
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Neutropenia, Chronic Familial
Neutropenia, Clubbing, Periodontitis, Increased circulating antibody level, Clubbing of fingers OMIM:162700
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... OMIM:187800
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Abnormality of limb bone morphology, Abnormal cortical bone mo... ORPHA:2204
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... ORPHA:2968
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Spina bifida ... ORPHA:2780
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis, Periventricular heterotopia OMIM:618476
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Elevated jugular venous pressure, P... OMIM:265450
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Osteopetrosis, Anemia, Splenome... OMIM:612301
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Von Willebrand Disease
Deviation of finger, Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... ORPHA:37748
Indolent Systemic Mastocytosis
Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, In... ORPHA:98848
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor... OMIM:601399
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... ORPHA:3132
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Abnormality of epiphysis morphology, Foot acroosteolysis, Abnormal cortical bone ... ORPHA:970
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Myelofibrosis, Absence of alpha granules, Gastrointestinal hemo... OMIM:187900
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... ORPHA:906
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... OMIM:259730
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Metatarsus adductus, Osteopetrosis... ORPHA:35107
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Albers-Schönberg Osteopetrosis
Abnormality of epiphysis morphology, Generalized osteosclerosis, Anemia, Arthritis, Abnormality o... ORPHA:53
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Arthritis, Splenomeg... ORPHA:809
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Esophagit... ORPHA:1901
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Chronic oral candidiasis, Recurrent otitis med... OMIM:608233
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Cough, Decreased DLCO OMIM:234810
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia, Skin rash ORPHA:1059
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenom... ORPHA:3318
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Menorrhagia, Eczema, Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... ORPHA:99105
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Generalized bone demineralization, Tibial bowing, Fibular bowing, Rickets, Thin bony ... OMIM:600785
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hypertension, Tricusp... ORPHA:422
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Autosomal Recessive Malignant Osteopetrosis
Abnormality of epiphysis morphology, Chronic rhinitis, Osteopetrosis, Craniosynostosis, Anemia, B... ORPHA:667
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:614158
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Subcutaneous hemorrhage, T... OMIM:603585
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... ORPHA:77297
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... OMIM:614075
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... OMIM:600903
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... ORPHA:97292
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phytohemaggl... OMIM:301000
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Symphalangism affecting the phalanges of the hand, Aplastic clavi... ORPHA:2658
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Bowing of the long bones, Proximal placement of thumb... ORPHA:90650
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Giant platelets, Reticulocyto... OMIM:210250
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Macs Syndrome
Bronchiectasis, Osteoporosis, Joint hypermobility, Brachydactyly, Prolonged bleeding time, Bruisi... OMIM:613075
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Eczema, Arthritis, Abnormal cortical bone morphology, Deviation ... ORPHA:1525
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Metatropic Dysplasia
Abnormality of the metaphysis, Abnormal cortical bone morphology, Coarse metaphyseal trabeculariz... ORPHA:2635
Pycnodysostosis
Abnormality of pelvic girdle bone morphology, Osteolytic defects of the distal phalanges of the h... OMIM:265800
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Impaired oxidati... OMIM:618935
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Increased... ORPHA:93284
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Familial Expansile Osteolysis
Thin bony cortex, Bowing of the long bones, Osteolysis, Pathologic fracture OMIM:174810
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional dyspnea, Angina p... OMIM:265400
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Decreased DLCO, Dyspnea OMIM:178500
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Hypoplasia of the femoral head, Salmonella osteomyelitis... OMIM:209950
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Prolonged bleeding time, Knee joint hypermobilit... ORPHA:49042
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Spontaneous, recurrent epistaxis, Abnormal dense granules, Giant neutrop... OMIM:214500
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility, Pachygyria, Abnormal digit morphology, Po... OMIM:300831
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure OMIM:178400
Fixed Subaortic Stenosis
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... ORPHA:3092
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Spontaneous, ... ORPHA:274
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Wheezing, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Diastrophic Dysplasia
Short finger, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing of the long ... ORPHA:628
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses ORPHA:1423
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... ORPHA:73
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteosclerosis, Hyp... ORPHA:1306
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Gingival bleeding, Abnormal platelet functi... ORPHA:167
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... ORPHA:2097
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Flared metaphysis, Advanced ta... OMIM:215045
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Osteopetrosis, Bone marrow hypocellularity, Anemia, Pancytopenia, Thrombocytopenia, R... ORPHA:2785
Gaucher Disease Type 1
Gingival bleeding, Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Increased c... ORPHA:77259
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Superficial dermal perivascular... ORPHA:324636
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... OMIM:613470
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time ORPHA:90308
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Pancytopenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Abnormal bleeding, Thrombocytopenia, Eosinophilia ORPHA:517
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Osteopenia, Wide anter... ORPHA:85184
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Impaired o... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Impaired o... OMIM:233710
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Tricuspid regurgitation, P... ORPHA:2414
Pachydermoperiostosis
Eczematoid dermatitis, Genu varum, Seborrheic dermatitis, Abnormality of epiphysis morphology, Os... ORPHA:2796
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Cough, Vasculitis, Cardiorespiratory arrest, Pulmonary embolism,... ORPHA:228116
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Impaired o... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Osteomyelitis, Splenomegaly, Impaired o... OMIM:233690
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Tachypnea, Elevated jugula... ORPHA:2041
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Elevate... OMIM:178600
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... OMIM:601495
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Cinca Syndrome
Leukocytosis, Abnormality of thrombocytes, Retrobulbar optic neuritis, Anemia, Abnormal granulocy... ORPHA:1451
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Arachnodactyly, Joint hypermobility, Increased bone mineral... OMIM:614856
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Slender long bone, Limitation of joint mobility, Recurrent fra... ORPHA:1486
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to fracture... ORPHA:98849
Spondyloepiphyseal Dysplasia, Nishimura Type
Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology, Slender fing... ORPHA:163649
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pneumothorax, Pulmonary arterial hyper... ORPHA:70588
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility OMIM:614076
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... ORPHA:2038
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Calvarial hyperostosis, Facial hyperostosis OMIM:176920
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... OMIM:619172
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... ORPHA:89936
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Diffuse Alveolar Hemorrhage
Hypoxemia, Cough, Pulmonary venous hypertension, Increased DLCO, Restrictive ventilatory defect, ... ORPHA:90060
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pseudohypoparathyroidism Type 1A
Short 3rd metacarpal, Short 5th metacarpal, Abnormal platelet function, Short metatarsal, Short f... ORPHA:79443
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Hepatitis, Bone marrow hypocellularity, Arthritis, Carti... ORPHA:829
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Thin bony cortex, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300554
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Polycythemia Vera
Hypertension, Respiratory insufficiency, Budd-Chiari syndrome, Epistaxis, Intermittent claudicati... ORPHA:729
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Bowing of the legs, Patchy osteosclerosis, Fractures of the long b... OMIM:112250
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia OMIM:618963
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:241530
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Leukem... ORPHA:486
Melnick-Needles Syndrome
Short clavicles, Bowing of the long bones, Abnormality of the metaphysis, Abnormal cortical bone ... ORPHA:2484
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Reduced FEV1/FVC ratio, Pulmon... ORPHA:70591
Felty Syndrome
Sinusitis, Pericarditis, Synovitis, Episcleritis, Neutropenia, Chronic otitis media, Rhinitis, Ab... ORPHA:47612
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Neutropenia, Anemia, Short middle phalanx of the 4th fin... OMIM:616738
Hermansky-Pudlak Syndrome 8
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... OMIM:614077
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... ORPHA:774
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Gingival bleeding, Colitis, Epistaxis, Prolonged bleeding ti... OMIM:203300
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, S... OMIM:612852
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Bone marrow hypocellularity, Anemia, Osteopenia, ... OMIM:618849
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:264700
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... ORPHA:75508
Limited Cutaneous Systemic Sclerosis
Mucosal telangiectasiae, Pulmonary arterial hypertension, Telangiectasia of the skin ORPHA:220402
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Cough, Raynaud phenomenon, Pulmonary venous hypert... ORPHA:79128
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:277440
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Hypertensive crisis, ... ORPHA:3287
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Diamond-Blackfan Anemia 11
Neutropenia, Radioulnar synostosis, Bone marrow hypocellularity, Anemia, Hypoplasia of the radius... OMIM:614900
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Dec... ORPHA:199241
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Systolic hea... ORPHA:99095
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Tibial bowing, Abnormal sacroiliac joint morphology, Craniosynostosis, Distal femoral... ORPHA:289176
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum OMIM:611762
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Abnormal cortical bone morphology ORPHA:2512
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Dysosteosclerosis
Abnormal metaphyseal trabeculation, Diaphyseal thickening, Increased susceptibility to fractures,... OMIM:224300
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Neutropenia, Increased circulating IgA level, Increased circulating IgG level, Decr... ORPHA:169154
Dysosteosclerosis
Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, I... ORPHA:1782
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Bone marrow hypocellularity, Diaphyseal sclerosis, An... OMIM:131300
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Spastic Paraplegia Type 2
Pulmonary embolism ORPHA:99015
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia OMIM:607115
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density, Finger clinodactyly ORPHA:3352
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Catastrophic Antiphospholipid Syndrome
Myocarditis, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction, Transien... ORPHA:464343
Dent Disease 1
Tibial bowing, Fibular bowing, Thin bony cortex, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300009
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia OMIM:614204
Mastocytosis
Acute leukemia, Chronic leukemia, Osteoporosis, Mastocytosis, Splenomegaly, Gastrointestinal hemo... ORPHA:98292
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis OMIM:120100
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Restrictive ventilatory... OMIM:612387
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Sclerosis of hand bone, Increased circulati... ORPHA:2905
Acute Promyelocytic Leukemia
Ecchymosis, Leukocytosis, Neutropenia, Gingival bleeding, Petechiae, Stomatitis, Pancytopenia, Le... ORPHA:520
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Recurrent pneumonia, Maculop... OMIM:619644
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Neutrophilia, Abnormal b... ORPHA:91547
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density,... ORPHA:94089
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Pulmonary arterial hypertension OMIM:613355
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Femora... OMIM:617952
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Bowing of the long bones, Osteoporosis, Increased bone mineral density, Recurrent frac... OMIM:239000
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, G... OMIM:263300
Dysostosis, Stanescu Type
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the metaphysis, Inc... ORPHA:1798
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function, Brachydactyly, Abnormal bleeding, Clinodac... ORPHA:648
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Femoral bowing, Broad thumb, Short 4th metacarpal OMIM:619638
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Neutropen... OMIM:260400
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Ivic Syndrome
Leukocytosis, Upper limb undergrowth, Hypoplasia of the ulna, Triphalangeal thumb, Short clavicle... OMIM:147750
Pycnodysostosis
Hypoplastic iliac wing, Short finger, Generalized osteosclerosis, Increased susceptibility to fra... ORPHA:763
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Ane... OMIM:304790
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Rickets, Increased su... ORPHA:289157
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormality of femur morphology, Thin bony cortex, Rickets, Fibrous dysp... ORPHA:249
Omenn Syndrome
Leukocytosis, Erythroderma, Pneumonia, Abnormal lymphocyte morphology, Anemia, Abnormality of the... ORPHA:39041
Ivic Syndrome
Leukocytosis, Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of t... ORPHA:2307
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Thrombocytopenia, Stomatitis, Decreased circulating IgA level, Impaired memory B cel... OMIM:308230
Trichothiodystrophy
Keratoconjunctivitis sicca, Eczema, Neutropenia, Craniosynostosis, Anemia, Clubbing, Osteopenia, ... ORPHA:33364
Erdheim-Chester Disease
Abnormality of epiphysis morphology, Anemia, Abnormality of the metaphysis, Osteomyelitis, Increa... ORPHA:35687
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension OMIM:106700
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension OMIM:300887
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... ORPHA:3243
Congenital Fibrinogen Deficiency
Splenic rupture, Gingival bleeding, Prolonged prothrombin time, Subcutaneous hemorrhage, Abnormal... ORPHA:335
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... OMIM:617099
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Infectious encephalitis, Neutropenia, Leukopenia, Hepatitis, Anemia, A... ORPHA:292
Gaucher Disease
Gingival bleeding, Pancytopenia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Abnormal ... ORPHA:355
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Phocomelia, Bilateral radial aplasia, Decreased circulating antibody level, Finger sy... OMIM:274000
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Anemia, Retic... ORPHA:88
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Eczema, Macrocytic anemia, Rickets, Prolonged prothrombin time, Decreased circula... OMIM:212750
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Pneumonia, Budd-Chiari syndrome OMIM:226300
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Bacterial Toxic-Shock Syndrome
Ecchymosis, Sinusitis, Myocarditis, Increased circulating myelocyte count, Infectious encephaliti... ORPHA:36234
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Arthritis... OMIM:260920
Pmm2-Cdg
Multiple joint contractures, Intracranial hemorrhage, Pericarditis, Long fingers, Osteoporosis, O... ORPHA:79318
Acquired Purpura Fulminans
Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Skin rash, Thrombocytopenia... ORPHA:49566
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, EEG abnormality ORPHA:391372
Gaucher Disease Type 3
Increased susceptibility to fractures, Anemia, Splenomegaly, Increased circulating antibody level... ORPHA:77261
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Prolonged prothrombin time, Refractory a... ORPHA:99147
Hemophagocytic Lymphohistiocytosis, Familial, 2
Infectious encephalitis, Leukopenia, Prolonged prothrombin time, Reduced natural killer cell acti... OMIM:603553
Alg12-Cdg
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Fibular aplasia, Abnormal vertebral segmentation and fusion, Bowing of the lon... ORPHA:90652
Shwachman-Diamond Syndrome 2
Genu varum, Normocytic anemia, Neutropenia, Prolonged prothrombin time, Metaphyseal widening, Met... OMIM:617941
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Anemia, In... OMIM:127000
Yellow Nail Syndrome
Sinusitis, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Cough, Dyspnea ORPHA:662
Autoimmune Hypoparathyroidism
Increased bone mineral density, Chronic mucocutaneous candidiasis, Conjunctivitis ORPHA:36913
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Tachypnea, Apnea, Pulmonary arterial hypertension, Respiratory fai... OMIM:265120
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Stüve-Wiedemann Syndrome
Metaphyseal widening, Thickened cortex of long bones, Osteoporosis, Bowing of the long bones, Abn... ORPHA:3206
Classical Ehlers-Danlos Syndrome
Ecchymosis, Generalized joint laxity, Shoulder dislocation, Dislocated radial head, Osteopenia, H... ORPHA:287
Pneumocystosis
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i... ORPHA:723
Antisynthetase Syndrome
Myocarditis, Respiratory insufficiency, Aortic regurgitation, Pulmonary arterial hypertension, Te... ORPHA:81
Osteogenesis Imperfecta
Protrusio acetabuli, Femoral bowing, Abnormality of tibia morphology, Bruising susceptibility, Ce... ORPHA:666
Sialuria
2-3 toe syndactyly, Prolonged prothrombin time, Joint hypermobility, Hepatosplenomegaly, Long hallux ORPHA:3166
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Obstructive sleep apnea, Mitral regurgitation OMIM:607015
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Increased susceptibility to fractures, Osteoporosis, Splenom... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Giant cell hepatitis, Extramedullary hematopoiesis, Rickets ORPHA:79303
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Pulmonary arterial hypertension OMIM:608406
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension OMIM:619064
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Dyspnea, Aortic v... OMIM:230800
Blomstrand Lethal Chondrodysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplastic clavicle, Synostosis of j... ORPHA:50945
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension OMIM:613623
Oculodentodigital Dysplasia
Short hallux, Toe syndactyly, Cranial hyperostosis, Hyperostosis, Abnormality of the metaphysis, ... ORPHA:2710
Cleidocranial Dysplasia
Short clavicles, Long second metacarpal, Hypoplastic scapulae, Hypoplastic iliac wing, Wide pubic... OMIM:119600
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Clinodactyly of the 5th finger, Osteopoikilosis ORPHA:94063
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Congestive heart failure, Sleep apnea OMIM:616482
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Tricuspid regurgitation OMIM:619051
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Exertional dyspnea, Transient ischemic attack, Nasal mu... OMIM:187300
Hepatoportal Sclerosis
Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Hypersplenism, Gastrointestinal hem... ORPHA:64743
Pseudohypoparathyroidism Type 1C
Short 3rd metacarpal, Short 5th metacarpal, Short metatarsal, Short fifth metatarsal, Ectopic oss... ORPHA:79444
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammatory abnormality of ... ORPHA:3260
Dent Disease
Enlarged epiphyses, Thin bony cortex, Rickets, Bowing of the legs, Metaphyseal irregularity, Dela... ORPHA:1652
Braddock Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension ORPHA:52047
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Coxa valga, Hip contracture, Flexion contracture of toe, Metatarsus... ORPHA:800
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Liver abscess, L... ORPHA:1304
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage OMIM:262850
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Hypertension, Pulmonary arterial hypertension OMIM:613320
Frank-Ter Haar Syndrome
Metatarsus adductus, Prominent coccyx, Bowing of the long bones, Osteoporosis, Acne, Short phalan... OMIM:249420
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism ORPHA:567548
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Clinodactyly of the 5th finger, Camptodactyly of finger ORPHA:2135
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgA level, Decreased circulatin... OMIM:212065
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Peritonitis, Myositis, Abnormal sacroiliac joint morphology, Fasciiti... ORPHA:32960
Hemophagocytic Lymphohistiocytosis, Familial, 1
Infectious encephalitis, Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Thrombocyt... OMIM:267700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Eczema, Thrombocytosis, Leukopenia, Decreased circulating antibody level, Bone marr... OMIM:615688
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancre... ORPHA:99827
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Pulmonary arterial hypertension OMIM:614857
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... ORPHA:369929
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Pulmonary arterial hypertension, Congestive hear... ORPHA:220393
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... OMIM:600376
Familial Osteodysplasia, Anderson Type
Bifid femur, Increased susceptibility to fractures, Aplastic clavicle, Abnormal cortical bone mor... ORPHA:2769
Eisenmenger Syndrome
Right ventricular failure, Syncope, Wheezing, Left-to-right shunt, Ventricular arrhythmia, Exerti... ORPHA:97214
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Pneumonia, Neutrophilia, Acute infectious pneumonia ORPHA:36238
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, ... ORPHA:60025
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Short foot, Small hand, Short palm OMIM:241410
Werner Syndrome
Rocker bottom foot, Osteoporosis, Small hand, Increased bone mineral density, Joint stiffness ORPHA:902
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Peritonitis, Arthritis, Splenomegaly, Crohn's disease, Neutrophilia, ... OMIM:249100
Raine Syndrome
Bowing of the long bones, Arthrogryposis multiplex congenita, Long hallux, Increased bone mineral... OMIM:259775
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Marburg Hemorrhagic Fever
Petechiae, Prolonged prothrombin time, Neutrophilia in presence of infection, Excessive bleeding ... ORPHA:99826
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Abnormal acetabulum morphology, Abnormality of the epiphysis of the f... OMIM:618641
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
Keutel Syndrome
Pulmonary arterial hypertension, Recurrent sinusitis ORPHA:85202
Craniofaciofrontodigital Syndrome
Mitral regurgitation, Pulmonary arterial hypertension, Respiratory distress, Gastrointestinal hem... ORPHA:363705
Absence Of The Pulmonary Artery
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Bronchiectasis... ORPHA:980
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Classic Homocystinuria
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Gastrointestinal hemorrhage, Pulmonary ... ORPHA:394
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Osteopenia OMIM:241200
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Kasabach-Merritt Syndrome
Neutropenia, Microangiopathic hemolytic anemia, Petechiae, Prolonged prothrombin time, Leukopenia... ORPHA:2330
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Dyspnea, Pleural effusion, Pulmonary embolism ORPHA:567546
Familial Thrombocytosis
Syncope, Pulmonary arterial hypertension, Transient ischemic attack, Cerebral ischemia ORPHA:71493
Laubry-Pezzi Syndrome
Mildly reduced ejection fraction, Palpitations, Aortic regurgitation, Exertional dyspnea, Elevate... ORPHA:99094
Scleroderma
Right ventricular failure, Syncope, Myocarditis, Pericarditis, Pulmonary arterial hypertension, R... ORPHA:801
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... ORPHA:98915
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, EEG abnormality, Pulmonary arterial hypertension ORPHA:974
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
48,Xxxy Syndrome
Asthma, Pulmonary embolism ORPHA:96263
Schimke Immuno-Osseous Dysplasia
Hypertension, Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Cong... ORPHA:1830
49,Xxxxy Syndrome
Asthma, Pulmonary embolism ORPHA:96264
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arterial hypertension, Respiratory distres... ORPHA:79282
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Long fingers, Osteoporosis, Long hallux, Recurrent fractures, Hyperextensibilit... OMIM:309583
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure, Heart murmur ORPHA:3309
Behçet Disease
Pericarditis, Mitral regurgitation, Aortic regurgitation, Cerebral ischemia, Myocardial infarctio... ORPHA:117
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Reduced ejection fraction, Respiratory insufficiency, Pulmonary arte... ORPHA:258
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Leukocytosis, Recurrent otitis media, Anemia, Keratitis, Neutrop... ORPHA:99843
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Epistaxis, Abnormal bleeding OMIM:610842
Weill-Marchesani Syndrome 1
Broad metatarsal, Thin bony cortex, Broad phalanges of the hand, Joint stiffness, Brachydactyly, ... OMIM:277600
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension ORPHA:447980
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly, Flexion contracture ORPHA:367
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Pulmonary arterial... ORPHA:90291
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Leukocytosis, Rectal abscess, Osteomyelitis OMIM:116920
Faciocardiomelic Syndrome
Thin bony cortex, Polydactyly, Osteopenia, Slender long bone, Hypoplastic pelvis OMIM:612731
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral regurgitation, Respiratory insufficiency, Pulmonary arterial hypertens... OMIM:614185
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Sclerosis of finger phalanx, Limb joint contracture, Prolonged prothrombin time, Increased suscep... ORPHA:404454
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Short foot, Small hand ORPHA:2323
Weill-Marchesani Syndrome 2
Broad metatarsal, Thin bony cortex, Flexion contracture of toe, Short finger, Short metatarsal, S... OMIM:608328
Overlap Myositis
Hypertension, Pulmonary arterial hypertension, Raynaud phenomenon ORPHA:206572
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension OMIM:615474
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Prolonged prothrombin time, Anemia, Acute pancreatitis ORPHA:20
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension ORPHA:3202
Yellow Fever
Leukocytosis, Prolonged prothrombin time, Hematemesis, Excessive bleeding after a venipuncture, N... ORPHA:99829
Angioosteohypertrophic Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Telangiectasia of the skin, Pulmonary embo... ORPHA:2346
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Hepatitis, Osteoporosis, Pancreatitis, Osteopenia, Splenomegaly, Hepa... ORPHA:171
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Cogan Syndrome
Thrombocytosis, Leukocytosis, Episcleritis, Anemia, Keratitis, Uveitis, Inflammatory abnormality ... ORPHA:1467
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Card... ORPHA:550
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Pulmonary arterial hypertension, Aborted sudden cardiac death, Tachycardi... OMIM:614921
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Splenopancreatic fusion, Thickened cortex of... OMIM:269150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Respiratory failure requiring assisted ventilation, Elevated pulmonary arter... OMIM:619351
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonary arterial hypertension, Respiratory insufficiency, Mitral regurgitation, Pulmonic stenosis OMIM:612541
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis OMIM:608149
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Stridor, Mitral regurgitation, Pulmonary arterial hypertension, Tach... ORPHA:505248
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis OMIM:616028
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Thrombocytopenia, Cerebellar hemorrhage ORPHA:99901
Abetalipoproteinemia
Keratoconjunctivitis sicca, Prolonged prothrombin time, Acanthocytosis, Anemia, Osteopenia, Retic... ORPHA:14
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Pulmonary arterial hypertension ORPHA:261279
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... ORPHA:209905
Japanese Encephalitis
Stiff neck, Infectious encephalitis, Neutrophilia, Increased circulating antibody level, Increase... ORPHA:79139
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Atypical Werner Syndrome
Rocker bottom foot, Osteoporosis, Intervertebral disc degeneration, Sclerosis of hand bone, Reduc... ORPHA:79474
Stuve-Wiedemann Syndrome 1
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension OMIM:601559
Hellp Syndrome
Cerebral hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Decreased mea... ORPHA:244242
Aspartylglucosaminuria
Abnormality of the ulna, Chronic otitis media, Arthritis, Abnormal cortical bone morphology, Sple... ORPHA:93
Aorta Coarctation
Hypertension, Pulmonary arterial hypertension, Congestive heart failure ORPHA:1457
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Rickets, Anemia, Reduced bone mineral density, Osteopenia, Pancytopenia, Joint ... OMIM:613658
Dermatomyositis
Myocarditis, Pericarditis, Respiratory insufficiency, Pulmonary arterial hypertension, Telangiect... ORPHA:221
Marshall-Smith Syndrome
Hypertension, Recurrent aspiration pneumonia, Obstructive sleep apnea, Apnea, Pulmonary arterial ... OMIM:602535
Monosomy 13Q34
Prolonged prothrombin time, Epistaxis, Postaxial foot polydactyly, Postaxial hand polydactyly, He... ORPHA:96168
Nestor-Guillermo Progeria Syndrome
Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Right bundle branch block, D... OMIM:614008
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Epistaxis ORPHA:79259
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Pulmonary arterial hypertension, Exertional dyspnea, Congestive heart failur... ORPHA:99050
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Recurrent otitis media, Osteoporosis, Anemia, Bleeding with minor or ... OMIM:619525
Fg Syndrome Type 1
Pulmonary arterial hypertension ORPHA:93932
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hallermann-Streiff Syndrome
Telangiectasia, Hypertension, Obstructive sleep apnea, Pulmonary arterial hypertension, Recurrent... OMIM:234100
Familial Chylomicronemia Syndrome
Pulmonary embolism ORPHA:444490
Incontinentia Pigmenti
Pulmonary arterial hypertension, Telangiectasia of the skin, Cerebral ischemia, Congestive heart ... ORPHA:464
Scimitar Syndrome
Left-to-right shunt, Pneumothorax, Pulmonary arterial hypertension, Cough, Heart block, Respirato...