Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Familial Isolated Café-Au-Lait Macules |
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Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Mediosternal Depigmentation Line |
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Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Griscelli Syndrome Type 3 |
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Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Hyperpigmentation Of Fuldauer And Kuijpers |
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Hyperpigmentation of the skin |
OMIM:145200 |
Acroleukopathy, Symmetric |
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Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
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Hyperpigmentation of the skin |
OMIM:161530 |
Dyschromatosis Universalis Hereditaria |
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Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Glanzmann Thrombasthenia |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G... |
OMIM:613496 |
Glanzmann Thrombasthenia 2 |
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Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Abnormality of... |
OMIM:155100 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... |
OMIM:103500 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... |
ORPHA:182050 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i... |
OMIM:613101 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613265 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Thrombocytopenia, Gi... |
ORPHA:238459 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... |
OMIM:300700 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa... |
OMIM:614075 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent sinus... |
OMIM:615707 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi... |
OMIM:614074 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... |
OMIM:614076 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Fair hair, Albinism, Periodontitis, Neutropenia, Prolonged bleedi... |
OMIM:608233 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... |
OMIM:601706 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... |
OMIM:193510 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypop... |
OMIM:614171 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... |
ORPHA:895 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel... |
OMIM:607616 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... |
OMIM:615559 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... |
ORPHA:2885 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Hermansky-Pudlak Syndrome 11 |
|
Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granul... |
OMIM:619172 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli... |
ORPHA:274 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... |
OMIM:203300 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:614072 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Hypopigmentation of the s... |
OMIM:610798 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal... |
ORPHA:3226 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Albinism, Ocular albinism, Restrict... |
OMIM:614073 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Thrombocytopenia, Splenomegaly, Recu... |
OMIM:617303 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Renal insufficiency, Anemia |
ORPHA:655 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen... |
OMIM:616050 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased plate... |
OMIM:603585 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:277580 |
3-Methylglutaconic Aciduria Type 4 |
|
Hearing impairment, Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Albinism, Excessive bleeding after a venipuncture, Silver-gray hair, Myopic astigmatis... |
OMIM:614077 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Silver-gray hair, Splenomegaly, White hair, Hypopigmented skin patche... |
ORPHA:381 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility, Decreased serum thrombox... |
OMIM:614158 |
Phenylketonuria |
|
Cataract, Eczema, Blue irides, Generalized hypopigmentation, Fair hair |
OMIM:261600 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Neurofibromatosis-Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Prolonged bleeding time, Cryptorchidism, Abnormal helix morpho... |
ORPHA:638 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment, Heterochromia iridis |
OMIM:616460 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... |
ORPHA:3437 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Ciliary dyskines... |
OMIM:616726 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Microcyti... |
ORPHA:90308 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding, Arteriovenous malform... |
ORPHA:1059 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Recurrent respiratory infections, Splenomegaly, Iris hypopigmen... |
ORPHA:834 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Megalocornea |
|
Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d... |
OMIM:309300 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells |
OMIM:269600 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Recurrent respiratory infections, Proteinuria, Heparan sulfa... |
ORPHA:505248 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spots, ... |
OMIM:614082 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Throm... |
OMIM:210250 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Usher Syndrome Type 3 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... |
ORPHA:231183 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... |
OMIM:269840 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Acatalasemia |
|
Severe periodontitis, Microcytic anemia, Arteriosclerosis, Gingival bleeding, Old-aged sensorineu... |
ORPHA:926 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Corneal arcus, Normochromic anemia, Foam cells |
OMIM:245900 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis |
ORPHA:66633 |
Immunodeficiency 104 |
|
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... |
ORPHA:540 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul... |
OMIM:276700 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albin... |
ORPHA:79430 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... |
OMIM:617638 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells |
OMIM:604809 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R... |
OMIM:620321 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Abnorm... |
ORPHA:53719 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Sensorineural hearing impairment, Blue irides, Hypopigmented skin patches, Prem... |
OMIM:148820 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Impaired T cell function, Abnormal lymphocyte physiology,... |
ORPHA:1830 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Sensorineural hearing impairment, Hypopigmented skin patches |
ORPHA:3239 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypo... |
ORPHA:352723 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal lung ... |
ORPHA:464329 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Cataract, Iris hypopigmentation |
ORPHA:231169 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... |
OMIM:300455 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Myositis, Pericarditis, S... |
ORPHA:809 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... |
OMIM:612444 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Cryptorchidism |
OMIM:275400 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Hepatomegaly, Elevated circ... |
OMIM:608836 |
Methionine Malabsorption Syndrome |
|
Tachypnea, White hair, Blue irides |
OMIM:250900 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Transcobalamin Deficiency |
|
Lymphopenia, Abnormality of chromosome stability, Pancytopenia, Decreased circulating antibody le... |
ORPHA:859 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Ermine Phenotype |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... |
ORPHA:999 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis... |
OMIM:263200 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Abnormal bleeding, Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Microcorn... |
ORPHA:3214 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Pulmonary cyst, Enlarged kidney |
OMIM:618272 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Recurrent respiratory infections, Blue irides, Protruding ear, Abnormal antihelix morphology, Caf... |
ORPHA:3041 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... |
ORPHA:54 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Immunodeficiency 102 |
|
Leukopenia, Decreased circulating IgG level, Partial absence of specific antibody response to Hae... |
OMIM:301082 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, Hearing impairment, White hair, Ocular albinism, Hypochromi... |
ORPHA:2720 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Hypoplasi... |
OMIM:609049 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration... |
ORPHA:91547 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Cryptorchidism, Blue irides, Pulmonary hypoplasia |
OMIM:300978 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Venous insufficiency, Splenomegaly, Abnormal pupil morphology, Limb... |
ORPHA:2969 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Hypermelanotic macule, Abnormal immunoglobulin level, Bi... |
OMIM:242900 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Neutropenia, Nephrolithiasis, Lipemia re... |
OMIM:232220 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Atherosclerosis |
OMIM:610842 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus, Hearing impairment, Type IV atherosclerotic lesion |
OMIM:144300 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... |
ORPHA:894 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Ple... |
ORPHA:3392 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Proteinuria, Hyperlipidemia, Lipemia retinalis, Nephrolithiasis,... |
OMIM:232200 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar... |
ORPHA:1163 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract, Premature coronary artery atherosclerosis |
OMIM:618463 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Primary Ciliary Dyskinesia |
|
Asplenia, Chronic otitis media, Conductive hearing impairment, Neonatal respiratory distress, Res... |
ORPHA:244 |
H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Recurrent pharyngitis, Bronch... |
ORPHA:168569 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, He... |
OMIM:603553 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... |
ORPHA:494424 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
Riboflavin Transporter Deficiency |
|
Progressive hearing impairment, Respiratory insufficiency, Iris hypopigmentation |
ORPHA:97229 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... |
OMIM:266265 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Posteriorly rotated ears, Cryptorchidism, Blue irides, Low-set ears, Thickened... |
OMIM:610733 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Thickened ... |
ORPHA:85194 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Sensorineural hearing impairment, Aspiration pneumonia |
OMIM:609528 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Low-set ears, Respiratory insufficiency |
ORPHA:1895 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Leukocytosis, Increased circulating IgE level, Hypersensitivity pneumoniti... |
ORPHA:2902 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti... |
OMIM:618986 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, E... |
OMIM:243700 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Hypopigmentation of hair, Abnormality of chromosome stability, ... |
ORPHA:100 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Conductive hearing i... |
OMIM:244400 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating ant... |
OMIM:604928 |
Lcat Deficiency |
|
Hemolytic anemia, Atherosclerosis, Corneal opacity, Premature coronary artery atherosclerosis |
ORPHA:650 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Abnormal lung lobation, Pulmonary hypoplasia, Cystic renal dysplasia, Enl... |
OMIM:615415 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Epistaxis, Chronic neutropeni... |
ORPHA:79259 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri... |
OMIM:617306 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hyperpigmentation of the skin, Splenomegaly, Thrombocytopenia, Sea-blue histio... |
ORPHA:158029 |
Alstrom Syndrome |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Hyperinsulinemia, Pigmentary retinopathy, ... |
OMIM:203800 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel... |
OMIM:257200 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,... |
OMIM:614878 |
Noonan Syndrome 13 |
|
Posteriorly rotated ears, Cryptorchidism, Blue irides, Multiple lentigines, Low-set ears, Recurre... |
OMIM:619087 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... |
ORPHA:35909 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613266 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Arterial stenosis, Cerebral artery atherosclero... |
ORPHA:1192 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c... |
ORPHA:158000 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal bleeding, H... |
ORPHA:247598 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Ocular albinism, Abnormal pulmon... |
OMIM:617050 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chr... |
OMIM:604571 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Cryptorchidism, Fair hair, Blue irides |
OMIM:614613 |
Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent pneumonia, Bronchiolitis obliterans organizing pneumonia,... |
OMIM:615518 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Stapes ankylosis, Abnormality of the middle ear ossic... |
ORPHA:90646 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Cerebral hemorrhage, Premature graying of hair, Azoospermia, Ischemic stroke, Low-set e... |
ORPHA:280679 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function,... |
OMIM:613179 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Macs Syndrome |
|
Prolonged bleeding time, Dilation of Virchow-Robin spaces, Cryptorchidism, Bronchiectasis, Recurr... |
OMIM:613075 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... |
OMIM:619752 |
Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Pneumonia, Thrombocytopenia, Cryptorchidism, Patent ductus arterio... |
OMIM:603467 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal cerebral vascular morphology, Pulmonary a... |
ORPHA:902 |
Farber Disease |
|
Respiratory distress, Corneal opacity, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelect... |
ORPHA:333 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Restrictive ventilatory defec... |
OMIM:620296 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Pulmonary hypoplasia, Cystic renal dyspl... |
OMIM:608022 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest... |
ORPHA:747 |
Tangier Disease |
|
Splenomegaly, Coronary artery atherosclerosis, Opacification of the corneal stroma, Atherosclerosis |
OMIM:205400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney |
ORPHA:90301 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter... |
OMIM:208540 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormality of skin pigmentation, Premature graying of hair, Atherosclerosis |
ORPHA:1979 |
Gm1-Gangliosidosis, Type Iii |
|
Foam cells, Opacification of the corneal stroma |
OMIM:230650 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Cataract, Thrombocytopenia, Interstitial... |
ORPHA:454831 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Apnea, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the thym... |
OMIM:214110 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Reduced circulating prolactin concentration, Band keratopathy, Elevated cir... |
ORPHA:79443 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia, Cryptorchidism, Spotty hypopigmentation, Decreased testicul... |
ORPHA:1867 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Peripher... |
ORPHA:91387 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... |
OMIM:612387 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Pneumonia |
ORPHA:85179 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Respiratory ... |
OMIM:607625 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... |
OMIM:210900 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Atherosclerosis |
ORPHA:2047 |
Hypercholesterolemia, Familial, 4 |
|
Atherosclerosis |
OMIM:603813 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Leukocytosis, Pneumoth... |
ORPHA:36238 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Increased circulating IgA level, Pleural thickening, Increased circulating IgE l... |
OMIM:619632 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Cryptorchidism, S... |
ORPHA:912 |
Hypertriglyceridemia 1 |
|
Precocious atherosclerosis |
OMIM:145750 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Keratoconjun... |
ORPHA:79128 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Low-set... |
OMIM:242860 |
Fish-Eye Disease |
|
Splenomegaly, Corneal opacity, Atherosclerosis |
ORPHA:79292 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Cataract, Posteriorly rotated ears, Brushfield spots, Cryptorchidi... |
OMIM:214100 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... |
ORPHA:276 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis |
ORPHA:79506 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma |
ORPHA:1791 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impair... |
ORPHA:2719 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased adiponectin level, Precocious atherosclerosis, Decreased s... |
ORPHA:280365 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Abnormality of thrombocytes, Abnormal cerebral vascular morpho... |
ORPHA:758 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Cerebral hemorrhage, Elevated circulating luteinizing hormone level, Stroke-like episod... |
OMIM:300845 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea... |
ORPHA:98754 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches |
ORPHA:1784 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea... |
ORPHA:98793 |
Gapo Syndrome |
|
Keratoconus, Abnormal cerebral vascular morphology, Hearing impairment, Hypopigmented skin patche... |
ORPHA:2067 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin... |
ORPHA:53271 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... |
OMIM:613550 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea... |
ORPHA:177904 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Internal hemorrhage, Splenic rupture, Developmental... |
ORPHA:335 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Decrea... |
ORPHA:177901 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pulmonary hypoplasia, Polysplenia, Extrapulmonary sequestrum, Cystic renal dysplasi... |
OMIM:200995 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Intraventricular hemorrhage, Neonatal asphyxi... |
ORPHA:420741 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Recurrent bronchitis, Cardiomegaly, Splenomega... |
OMIM:252500 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Coronary artery atherosclerosis, Pancreatitis, Atherosclerosis |
ORPHA:2348 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Lymphopenia, Decreased circulat... |
OMIM:102700 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Prominent veins on trunk, Coronary artery atherosclerosis, Pancreatitis, Atheroscle... |
ORPHA:79083 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus, Premature coronary artery atherosclerosis |
OMIM:620058 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Bl... |
OMIM:193500 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Eczema, Sclerocornea, Hearing impairment, Cryptorchidism, Low-set ears... |
ORPHA:284160 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Re... |
OMIM:616433 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Atherosclerosis |
ORPHA:2724 |
Cholesteryl Ester Storage Disease |
|
Arteriosclerosis, Splenomegaly |
ORPHA:75234 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypoventilation, Cryptorchidism, Hype... |
OMIM:176270 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Stroke, Precocious atherosclerosis |
ORPHA:230839 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... |
ORPHA:2268 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... |
ORPHA:500095 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:49566 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Cataract, Lymphopenia, Albinism, Decr... |
OMIM:242840 |
Koolen-De Vries Syndrome |
|
Cataract, Eczema, Anteverted ears, Cryptorchidism, Patent ductus arteriosus, Macrotia, Aortic roo... |
OMIM:610443 |
Usher Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Iris hypopigmentation |
ORPHA:231178 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori... |
ORPHA:183675 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Gout, Premature coronary artery atherosclerosis |
OMIM:610947 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi... |
ORPHA:486 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Emphysema, Lymph... |
OMIM:620365 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Patent ductus a... |
ORPHA:177907 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Noonan Syndrome |
|
Abnormal bleeding, Hepatomegaly, Abnormality of the spleen, Cryptorchidism, Pulmonary artery sten... |
ORPHA:648 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... |
OMIM:614935 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
Nail-Patella Syndrome |
|
Coronary artery dissection, Abnormal iris pigmentation, Antecubital pterygium, Primary congenital... |
ORPHA:2614 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Hearing impairment |
OMIM:619057 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Acute pancreatitis, Type IV atherosclerotic lesion, Peripheral arter... |
ORPHA:412 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... |
ORPHA:69087 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, H... |
ORPHA:99901 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Abnormal pupil mor... |
ORPHA:1764 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Coronary artery atherosclerosis, Pancreatitis |
ORPHA:79084 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode |
ORPHA:199354 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Q Fever |
|
Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Maculopapular exanthema, Vas... |
ORPHA:781 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Prolonged pr... |
OMIM:613070 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:608320 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Purpura, Pneumonia, Hypermelanotic macule, Autoimmune thrombocy... |
OMIM:607944 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In... |
ORPHA:2314 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Coronary artery atherosclerosis, Elevated hemoglobin A1c |
OMIM:618620 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Gastrocutaneous Syndrome |
|
Multiple cafe-au-lait spots, Multiple lentigines, Coronary artery atherosclerosis, Melanocytic nevus |
ORPHA:2069 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigmentation of the skin,... |
ORPHA:125 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst... |
ORPHA:79303 |
Brucellosis |
|
Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious encephal... |
ORPHA:1304 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... |
OMIM:618372 |
Meacham Syndrome |
|
Accessory spleen, Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horse... |
OMIM:608978 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Premature coronary artery atherosclerosis, Oligozoospermia |
OMIM:615703 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Abnormal cerebral vascular morphology, Pulmonary ... |
ORPHA:3205 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Blue irides, Mela... |
OMIM:101800 |
Alkaptonuria |
|
Coronary artery calcification, Osteoarthritis, Abnormality of skin pigmentation, Arthritis, Irreg... |
ORPHA:56 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:64743 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Abnormal pupil... |
ORPHA:233 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
Ogden Syndrome |
|
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Cardiomegaly, Cryptorchidism, Pu... |
OMIM:300855 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Opacification of the corneal stroma, Premature coronary artery atherosclerosis |
ORPHA:425 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Abnormal pulmonary interstitial morphology,... |
OMIM:620233 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Choroidal neovascularization, Retinal h... |
OMIM:264800 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, White hair, Hearing impairment |
ORPHA:896 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Cr... |
ORPHA:636 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Patent ductus arteriosus, Abnormal lung lob... |
OMIM:300514 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hepatic foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepato... |
OMIM:278000 |
Down Syndrome |
|
Brushfield spots, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Patent du... |
OMIM:190685 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Penoscrotal hypospadias, Unilateral cryptorchidism, Cr... |
OMIM:618280 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Chronic otitis media, Thromboc... |
ORPHA:169090 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Splenomegaly, Cryptorchidism, Sensorineural hearing impairment, Hepat... |
OMIM:614866 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Proteinuria, Rod-cone dystrophy, Renal cyst, Nephrotic syndrome, Prolonged prothrom... |
OMIM:212065 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Decreased serum leptin, Dyspnea, Pulmonary arterial hypertension, Sp... |
OMIM:614008 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancrea... |
ORPHA:70578 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Reticular hyperpigmentation, Premature graying of hai... |
OMIM:127550 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating IgE level, Re... |
OMIM:602450 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Fusariosis |
|
Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, Keratitis, Hype... |
ORPHA:228119 |
Niemann-Pick Disease, Type C1 |
|
CNS foam cells, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Foam cells |
OMIM:257220 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Cataract, Recurrent pneumonia, Leukopenia, Prolonged prothrombin time, 3-Methy... |
OMIM:616271 |
Tangier Disease |
|
Accelerated atherosclerosis, Corneal opacity, Carotid artery stenosis, Hepatosplenomegaly, Anemia... |
ORPHA:31150 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, H... |
ORPHA:508 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... |
ORPHA:37042 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal lung lobation, Pulmonary h... |
ORPHA:79328 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p... |
ORPHA:83471 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Trisomy 8P |
|
Posteriorly rotated ears, Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal ... |
ORPHA:264450 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... |
OMIM:130650 |
Phace Syndrome |
|
Cataract, Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... |
ORPHA:42775 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Cataract, Pneumonia, Eosinophilia, Hearing impairment, Recurrent pneumo... |
OMIM:158310 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Atelectasis, Hepatitis, Scle... |
ORPHA:728 |
Osteogenesis Imperfecta, Type Xvi |
|
Conductive hearing impairment, Prolonged bleeding time, Bruising susceptibility, Hearing impairment |
OMIM:616229 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis... |
ORPHA:2968 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Coronary artery atherosclerosis |
OMIM:616833 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Cryptorchidism, Sensorineura... |
OMIM:609136 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno... |
ORPHA:79124 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Vas... |
ORPHA:1855 |
Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Abnormality of the sple... |
ORPHA:31202 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Mixed hearing impairment, Hepatosplenomegaly |
ORPHA:309288 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Pneumonia, Conductive hearing impairment, Respiratory insufficienc... |
ORPHA:2135 |
Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Coronary artery atherosclerosis, Acute pancreatitis |
OMIM:608600 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema |
OMIM:261740 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Premature graying of hair, Aortic root aneurysm, Aortic atherosclerotic ... |
ORPHA:363618 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Chemosis, Nephriti... |
ORPHA:73263 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... |
ORPHA:39041 |
Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat... |
ORPHA:79329 |
Squalene Synthase Deficiency |
|
Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears |
OMIM:618156 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Atherosclerosis |
ORPHA:95427 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Excessive bleeding after a ve... |
ORPHA:319213 |
Abetalipoproteinemia |
|
Abnormal bleeding, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholestero... |
ORPHA:14 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Recurrent respira... |
ORPHA:79324 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, ... |
OMIM:306955 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta, Anemia |
OMIM:208060 |
Yellow Fever |
|
Abnormal bleeding, Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinas... |
ORPHA:99829 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Cataract, B... |
ORPHA:191 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Noonan Syndrome 9 |
|
Cryptorchidism, Prolonged prothrombin time, Hydroureter, Prominent corneal nerve fibers |
OMIM:616559 |
Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Splenomegaly, Sensorineural hearing impairment, Hypopigmented skin patc... |
ORPHA:163746 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchidism, Enuresis no... |
OMIM:615873 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... |
OMIM:619381 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Numerous pigmented freckles, Skin rash, Hearing impairment |
ORPHA:220295 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, Dyspnea, Asthm... |
ORPHA:97287 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Hepa... |
ORPHA:209902 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Leukocoria, Bone marrow hypocellularity, Fi... |
OMIM:268130 |
Timothy Syndrome |
|
Pneumonia, Bronchitis, Patent ductus arteriosus, Pulmonary arterial hypertension, Tetralogy of Fa... |
OMIM:601005 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Microcornea, Heterochromia iridis, Iris coloboma, Transient ischemic attack |
ORPHA:2995 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Glomerulonephritis, Sensorineural hearing impairment, Antecubital pterygiu... |
OMIM:161200 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Optic atrophy, Prolonged prothrombin time, 3-Methylglutaconic ac... |
OMIM:618329 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc... |
ORPHA:99826 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... |
ORPHA:538 |
Shigellosis |
|
Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative colitis, Ar... |
ORPHA:810 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Splenomegaly... |
OMIM:306400 |
Lathosterolosis |
|
Cataract, Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Cryptorchidism, Blue irides, Microtia, Conductive hearing impai... |
OMIM:129900 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Abnormal lung lobation, Abnormality of skin pigmentati... |
ORPHA:744 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Vasculitis in the skin, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He... |
ORPHA:39812 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Leukopenia, Prolonged prothrombin time, 3-... |
ORPHA:20 |
Nocardiosis |
|
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Freckling, Hy... |
OMIM:278720 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis... |
OMIM:615846 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, An... |
ORPHA:811 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Sensorineural hearing impairment, Ocular albinism |
ORPHA:1000 |
Mirage Syndrome |
|
Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, ... |
OMIM:617053 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Paraproteinemia, Coronary artery atherosclerosis, Chronic pulmonary obs... |
ORPHA:439232 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Aspiration pneumonia, Cough |
ORPHA:216866 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Nephritis... |
ORPHA:2552 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ... |
ORPHA:567 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Vacuolated lymphocytes, Hepato... |
ORPHA:275761 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in... |
ORPHA:647 |
Knobloch Syndrome 1 |
|
Band keratopathy, Patent ductus arteriosus, Chorioretinal atrophy, Developmental cataract, Iris t... |
OMIM:267750 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Corneal opacity, Hypermelanotic macule, Transien... |
ORPHA:740 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Williams Syndrome |
|
Abnormal cerebral vascular morphology, Protruding ear, Chronic otitis media, Megalocornea, Low-se... |
ORPHA:904 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein... |
OMIM:614300 |
Autoimmune Hypoparathyroidism |
|
Cataract, Dyspnea, Chronic mucocutaneous candidiasis, Conjunctivitis, Coronary artery atheroscler... |
ORPHA:36913 |
Werner Syndrome |
|
Cataract, Elevated hemoglobin A1c, Premature arteriosclerosis |
OMIM:277700 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Pneumonia, Increased circulating ACTH level, Abnormal circu... |
ORPHA:90790 |
Neuroocular Syndrome |
|
Cataract, Brushfield spots, Unilateral deafness, Lens coloboma, Blue irides, Cupped ear, Anterior... |
OMIM:619539 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An... |
ORPHA:2330 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... |
ORPHA:228123 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... |
ORPHA:340 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Mem... |
ORPHA:48435 |
Brittle Cornea Syndrome 1 |
|
Red hair, Hearing impairment |
OMIM:229200 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism, Respiratory distress |
OMIM:300219 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Punctate vasculitis skin le... |
ORPHA:247691 |
Digeorge Syndrome |
|
Impaired T cell function, Sclerocornea, Hypoplasia of the thymus, Acne, Decreased circulating par... |
OMIM:188400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cryptorchidism, Blue irides, Microtia, Generalized hypopigmentation, Fair hair, Blepharitis, Hear... |
OMIM:604292 |
Lipodystrophy, Familial Partial, Type 2 |
|
Prominent superficial veins, Hyperinsulinemia, Acute pancreatitis, Atherosclerosis |
OMIM:151660 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Prominent superficial veins, Abnormal cerebral vascular morp... |
ORPHA:79474 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Hyperammonem... |
OMIM:617049 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Dyspnea, Peripheral arte... |
ORPHA:391665 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Respiratory failure requiring assisted ventilation, Decreased serum insulin-li... |
ORPHA:77293 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Prolonged prothrombin time, Recur... |
OMIM:212750 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Increased circulating IgA level, Abnormal circulating leptin concentration,... |
ORPHA:2298 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Osteoarthritis, Abnormal cornea morphology, Aortic root aneurysm, Dilata... |
ORPHA:287 |
Listeriosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:533 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia... |
OMIM:616430 |
Cerebrotendinous Xanthomatosis |
|
Abnormal auditory evoked potentials, Precocious atherosclerosis, Abnormal lung morphology, Juveni... |
ORPHA:909 |
Cleft Velum |
|
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia |
ORPHA:99772 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Cryptorchidism, Splenomegaly, Abnormal lung lobation, Renal cyst, Dupl... |
OMIM:312870 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Corneal opacity, Splenomegaly, Patent ductus arteriosus, Hepato... |
ORPHA:354 |
Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time, Hyperammonemia, Hepatomegaly |
OMIM:618641 |
Estrogen Resistance Syndrome |
|
Acne, Increased circulating gonadotropin level, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:785 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... |
OMIM:311250 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Mixed hearing impairment, Thoracic aortic aneurysm, Repeated pneumothoraces... |
ORPHA:536467 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Leuk... |
ORPHA:797 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Hepatosplen... |
ORPHA:444490 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Prolonged prothrombin time, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Chops Syndrome |
|
Cataract, Thickened helices, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Anomalous pu... |
OMIM:616368 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microtia, Ocular albinism, Cupped ear |
ORPHA:1352 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Prolonged prothr... |
OMIM:619055 |
Gaisböck Syndrome |
|
Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Peripheral arterial s... |
ORPHA:90041 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Recurrent respiratory infections, Splen... |
ORPHA:404454 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hematochezia, Prolonged prothrombin time, Decreased serum bile acid concentration, ... |
OMIM:214950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Thrombocytopenia |
OMIM:617941 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Sensorineural hearing impairment, Coronary artery atherosclerosis, Renal artery stenosis, Cerebra... |
OMIM:209010 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Periodontitis, C... |
ORPHA:534 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Low-set ... |
ORPHA:314655 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase ... |
OMIM:614921 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Thoracic aortic aneurysm, Hearing imp... |
ORPHA:365 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Sensorineura... |
ORPHA:565612 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus... |
OMIM:613177 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hematochezia, Prolonged prothrombin time, Hyperbilirubinemia |
OMIM:613812 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Chemosis... |
ORPHA:95455 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Hyperammonemia |
OMIM:616483 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Splenomegaly, Prolonged prothrombin ... |
ORPHA:309854 |
Cockayne Syndrome Type 3 |
|
Cataract, Splenomegaly, Macrotia, Subdural hemorrhage, Retinal hemorrhage, Premature graying of h... |
ORPHA:90324 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis, Sensorineural hearing impairment |
ORPHA:435638 |
Williams-Beuren Syndrome |
|
Retinal arteriolar tortuosity, Sensorineural hearing impairment, Blue irides, Premature graying o... |
OMIM:194050 |
Sialuria |
|
Prolonged prothrombin time, Upper airway obstruction, Low-set ears, Hepatosplenomegaly |
ORPHA:3166 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Uveitis, Hepatos... |
ORPHA:171 |
Degcags Syndrome |
|
Abnormality of skin pigmentation, Premature graying of hair, Leukopenia, Iron deficiency anemia, ... |
OMIM:619488 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Monosomy 13Q34 |
|
Hypercalcemia, Epistaxis, Fetal pyelectasis, Hematochezia, Prolonged prothrombin time |
ORPHA:96168 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Splenomegaly, Prolonged prothromb... |
ORPHA:30391 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus, Coronary artery atherosclerosis |
OMIM:143890 |
Short-Rib Thoracic Dysplasia 12 |
|
Posteriorly rotated ears, Abnormal pinna morphology, Splenomegaly, Atelectasis, Patent ductus art... |
OMIM:269860 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Corneal perforation, Conjunctival hyp... |
ORPHA:68 |
Atrial Septal Defect, Coronary Sinus Type |
|
Transient ischemic attack, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous... |
ORPHA:99104 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Coronary artery atherosclerosis |
OMIM:144010 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Acute colitis, Pneumonia, Respiratory tract infection, Dyspnea, Leukocytosis, M... |
ORPHA:544482 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... |
ORPHA:84064 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Keratitis, Cough, Dy... |
ORPHA:1018 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Mixed hearing impairment, Cataract, Corneal opacity, Thickene... |
ORPHA:581 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Abnormal incisura morphology, Cryptorchidism, Sensorineural hearing impairment, Microc... |
OMIM:122470 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Low-set ears, Aspiration pneumonia, Cherry red spot of the macula, Macrotia, ... |
ORPHA:79255 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... |
ORPHA:1974 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Brittle Cornea Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation |
ORPHA:90354 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia,... |
OMIM:619525 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Mixed hearing impairment, Sensorineural heari... |
ORPHA:309282 |
Marshall-Smith Syndrome |
|
Apnea, Hearing impairment, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Re... |
OMIM:602535 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
Plague |
|
Abnormal bleeding, Respiratory distress, Chapped lip, Skin rash, Hearing impairment, Hematemesis,... |
ORPHA:707 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hyperammonemia, Intracranial hemorrhage, Prolonge... |
ORPHA:90062 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restricti... |
OMIM:253200 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary artery atheroscle... |
OMIM:615947 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Thrombocytopenia, Hearing impairment |
OMIM:301072 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pulmonary vas... |
ORPHA:99103 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dyspnea, Dilatation of the ventricular cavity, Coronary arte... |
ORPHA:66529 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Low-set, posteriorly rotated ears, Cataract, Abnormality of the spleen, Cry... |
ORPHA:1606 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Conductive hearing impairm... |
ORPHA:444077 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Cholera |
|
Tachypnea, Stroke, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Pneumonia, Eczema, Cough, Splenomegaly, Patent ductus arteriosus, Dilatation o... |
OMIM:619991 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc coloboma, Renal hy... |
OMIM:309800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Cataract, Pneumonia, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:353281 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Astigmatism, Aspiration pneumonia |
OMIM:619482 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Cataract, Pneumonia, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Cataract, Pneumonia, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:353277 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Prominent scalp veins, Cataract, Posteriorly rotated ears, Pneu... |
OMIM:264090 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Doors Syndrome |
|
Respiratory distress, Cataract, Atresia of the external auditory canal, Aspiration pneumonia, Low... |
ORPHA:79500 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Anomalous origin of left subclav... |
ORPHA:438213 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Cupped ear, Protruding ... |
OMIM:216340 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Cataract, Abnormal pinna morphology, Elevated circulating gro... |
ORPHA:79318 |