Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Factor V Deficiency |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227400 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Menor... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... |
OMIM:613679 |
Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... |
OMIM:139090 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr... |
OMIM:614076 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:188025 |
Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax... |
OMIM:193400 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Bruising susceptibility, Prolonged bleeding time, Epistaxis, Petechiae |
OMIM:314050 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Conductive hearing impairment, Short foot, Broad tibial metaph... |
ORPHA:2502 |
Slc35A1-Cdg |
|
Prolonged bleeding time, Pulmonary hemorrhage, Abnormal bleeding, Subcutaneous hemorrhage |
ORPHA:238459 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... |
OMIM:614074 |
Congenital Factor Ii Deficiency |
|
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... |
ORPHA:325 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... |
OMIM:210250 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility |
ORPHA:182050 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Albinism, Aganglionic megacolon, Abnormal auditory evoked potenti... |
OMIM:600501 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long eyelashes, Astigmatism, Broad finger, Low posterior hai... |
OMIM:617523 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Aganglionic megacolon, Fine hair, Lymphopenia, Long fibula, White hair, Abnormal metaphys... |
ORPHA:935 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... |
OMIM:300106 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Coxa valga, Abnormally prominent line of Schwal... |
OMIM:109120 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Generalized hirsutism, Hearing impairment |
ORPHA:79087 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility |
ORPHA:3226 |
Klippel-Trénaunay Syndrome |
|
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage |
ORPHA:90308 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Essential Thrombocythemia |
|
Prolonged bleeding time |
ORPHA:3318 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... |
OMIM:203300 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Hammertoe, Abnormal cranial nerve morphology, Prolonge... |
OMIM:601596 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsal, Short 1s... |
OMIM:201050 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Synophrys, Irregular epiph... |
OMIM:619260 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... |
ORPHA:169154 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Synophrys, M... |
OMIM:610442 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Neutropenia, Lymphocytosis, Chronic irrita... |
OMIM:258360 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... |
OMIM:277450 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
Mixed Connective Tissue Disease |
|
Prolonged bleeding time, Purpura, Gastrointestinal hemorrhage |
ORPHA:809 |
Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Abnormal aud... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Abnormal aud... |
ORPHA:529799 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of toe, Abnormal auditory evoked potentials, Camptodactyly, ... |
OMIM:193700 |
Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... |
ORPHA:335 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... |
ORPHA:324636 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Progressive hearing impairment, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hy... |
ORPHA:514 |
Chédiak-Higashi Syndrome |
|
Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Hemophagocytos... |
ORPHA:167 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Iliac crest serration, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, Short palm, C... |
ORPHA:93317 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... |
OMIM:308240 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... |
OMIM:271665 |
Mogs-Cdg |
|
Alopecia, Sensorineural hearing impairment, Optic atrophy, Fair hair, Absent brainstem auditory r... |
ORPHA:79330 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Cockayne Syndrome B |
|
Hypoplastic iliac wing, Dry hair, Sensorineural hearing impairment, Optic atrophy, Abnormal audit... |
OMIM:133540 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... |
ORPHA:3240 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Acquired Von Willebrand Syndrome |
|
Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, Bruising susc... |
ORPHA:99147 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... |
ORPHA:2968 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Mend Syndrome |
|
2-3 toe syndactyly, Abnormal auditory evoked potentials, Hand polydactyly, Overlapping toe, Broad... |
ORPHA:401973 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly |
ORPHA:86843 |
Cockayne Syndrome A |
|
Hypoplastic iliac wing, Dry hair, Sensorineural hearing impairment, Hip contracture, Optic atroph... |
OMIM:216400 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... |
ORPHA:90321 |
Trisomy 10P |
|
Short toe, Contracture of thumb, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with ... |
ORPHA:171929 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, Fl... |
ORPHA:101085 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Purpura, Epistaxis, Prolonged bleeding time, Gingival bleeding, Hematemesis, Melena |
OMIM:301000 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Noonan Syndrome |
|
Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal finger morphology, Abnorm... |
ORPHA:909 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Metaphyseal dysplasia, Neutropenia |
ORPHA:1667 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder |
ORPHA:79456 |
Relapsing Fever |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
ORPHA:91547 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage |
ORPHA:64743 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Infantile Liver Failure Syndrome 3 |
|
Prolonged prothrombin time |
OMIM:618641 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Ecchymosis |
ORPHA:287 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time |
OMIM:613070 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:613812 |
Sialuria |
|
Prolonged prothrombin time |
ORPHA:3166 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Monosomy 13Q34 |
|
Epistaxis, Hematochezia, Prolonged prothrombin time |
ORPHA:96168 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time |
ORPHA:367 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Prolonged prothrombin time |
ORPHA:99901 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time |
ORPHA:79303 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Prolonged prothrombin time |
OMIM:616271 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time |
OMIM:618280 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Prolonged prothrombin time |
OMIM:267700 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged prothrombin time |
ORPHA:71212 |
Hellp Syndrome |
|
Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage |
ORPHA:244242 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Prolonged prothrombin time |
OMIM:603553 |
Celiac Disease, Susceptibility To, 1 |
|
Prolonged prothrombin time |
OMIM:212750 |
Kasabach-Merritt Syndrome |
|
Purpura, Prolonged prothrombin time, Petechiae |
ORPHA:2330 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Prolonged prothrombin time |
OMIM:212065 |
Shwachman-Diamond Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:617941 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:50918 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Alg12-Cdg |
|
Prolonged prothrombin time |
ORPHA:79324 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Prolonged prothrombin time |
ORPHA:20 |
Isolated Biliary Atresia |
|
Prolonged prothrombin time |
ORPHA:30391 |
Tyrosinemia, Type I |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena |
OMIM:276700 |
Abetalipoproteinemia |
|
Abnormal bleeding, Prolonged prothrombin time |
ORPHA:14 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Prolonged prothrombin time |
ORPHA:309854 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage |
ORPHA:247598 |
Liver Disease, Severe Congenital |
|
Dry hair, Anemia, Leukopenia, Lymphocytosis, Cholesteatoma, Nail dystrophy, Thrombocytopenia, Spl... |
OMIM:619991 |
Marburg Hemorrhagic Fever |
|
Petechiae, Abnormal bleeding, Internal hemorrhage, Bruising susceptibility, Prolonged prothrombin... |
ORPHA:99826 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Prolonged prothrombin time |
ORPHA:404454 |
Acute Liver Failure |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Prolonged prothrombin time, ... |
ORPHA:90062 |
Yellow Fever |
|
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Hematemesis, Excessive bleedi... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
|
Prolonged prothrombin time |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Bleeding with minor or no trauma, Prolonged prothrombin time |
OMIM:619525 |