Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
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 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Hypopigmentation of the skin, Epistaxis, Albinism, Im... |
OMIM:614075 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Prolonged bleeding time, De... |
OMIM:608233 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, ... |
OMIM:614073 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Glomerulopathy, Ataxia, Pericardial effusion, Hemipleg... |
ORPHA:36412 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed a... |
OMIM:203300 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali... |
ORPHA:2585 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental extraction, Albinism, Ocular ... |
OMIM:614076 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platele... |
OMIM:619172 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi... |
OMIM:614074 |
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 |
Chediak-Higashi Syndrome |
|
Tremor, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of th... |
OMIM:214500 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
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 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic... |
ORPHA:634 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Ataxia, Proteinuria, Splenomegaly... |
ORPHA:834 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i... |
OMIM:613101 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:614072 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmen... |
OMIM:614171 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Abnormal re... |
ORPHA:60033 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... |
OMIM:614077 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Pa... |
ORPHA:79430 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Asthma, Bronchiectasis, Respirato... |
ORPHA:1164 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Alopeci... |
OMIM:615559 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... |
OMIM:300400 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Bilateral tonic-clonic seizure, Albinism, Splenomegaly, ... |
OMIM:617050 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Apnea, Edema, Polyhydramnios, Decrease... |
ORPHA:79330 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hearing impairment, Seizure, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive... |
ORPHA:67048 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent sinus... |
OMIM:615707 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Cataract, Ataxia, Abnormality of neutrophils, Hearing impairmen... |
ORPHA:2720 |
Slc35A1-Cdg |
|
Respiratory distress, Prolonged bleeding time, Abnormal bleeding, Subcutaneous hemorrhage, Pneumo... |
ORPHA:238459 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema,... |
ORPHA:3226 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Imp... |
OMIM:124900 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Incoordination, Epistaxis, Ocular albinism, Hypertonia, Abnorma... |
ORPHA:352723 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Incr... |
ORPHA:182050 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... |
OMIM:231200 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Hellp Syndrome |
|
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Protein... |
ORPHA:244242 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Vici Syndrome |
|
Albinism, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Hypopigmen... |
OMIM:242840 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis... |
ORPHA:188 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... |
OMIM:612387 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Proteinuria, Subcutaneous hemorrhage, Macrothrombocytopenia, Seizure, Aminoaciduria, Neut... |
OMIM:603585 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Ataxia, Corneal opacity, Cataract, Cryptorchidism, S... |
ORPHA:2719 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... |
ORPHA:231393 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnor... |
OMIM:105210 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Hypophosphatasia |
|
Failure to thrive in infancy, Respiratory insufficiency, Seizure, Emphysema, Anemia |
ORPHA:436 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl... |
ORPHA:381 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... |
OMIM:209050 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Chédiak-Higashi Syndrome |
|
Edema, Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymph... |
ORPHA:167 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Microcytic anemi... |
ORPHA:90308 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... |
OMIM:187800 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Pneumothorax, Renal cell carcinoma, Pulmonary sequestration,... |
ORPHA:122 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chr... |
OMIM:604571 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Imp... |
OMIM:617443 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Vertigo, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Nephropathy, Prolonged bleeding time, Hemolytic anemia, Alopeci... |
ORPHA:809 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Pedal edema, Weight... |
ORPHA:330001 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... |
OMIM:277480 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
Mgat2-Cdg |
|
Respiratory distress, Decreased circulating IgG level, Impaired lymphocyte transformation with ph... |
ORPHA:79329 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, ... |
OMIM:620365 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura... |
OMIM:619632 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Cachexia, Tremor, Respiratory insufficiency, Seizure, Progressive hear... |
ORPHA:97229 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Japanese Encephalitis |
|
Respiratory distress, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, I... |
ORPHA:79139 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... |
OMIM:209950 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre... |
OMIM:618913 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Recurrent aspiration pneumonia, Waddling gait, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen... |
OMIM:616050 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Emphysema, Hepatitis |
ORPHA:60 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Spontaneous, recurrent epistaxis, Abnormal bleeding, Gastrointestina... |
ORPHA:274 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Obes... |
OMIM:615993 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Synophrys, Asymmetr... |
OMIM:252920 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Lymphedema, Abnormality of skin pigmentation, Cough, Ungual fibroma, Emph... |
ORPHA:538 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Cocaine Intoxication |
|
Respiratory distress, Tremor, Tachypnea, Tubulointerstitial nephritis, Colitis, Cough, Hyperventi... |
ORPHA:90068 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
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 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Sarcoidosis, Susceptibility To, 1 |
|
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Pericardial effusion, Bronchiecta... |
OMIM:181000 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Hypopigmentation of the ski... |
ORPHA:411515 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Ataxia, Skin rash, Edema, Reduced natural killer cell activity, Splenomegaly, Tetra... |
OMIM:603553 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Griscelli Syndrome Type 1 |
|
Ataxia, Partial albinism, White hair, Premature graying of hair, Seizure, Hypertonia, Retinopathy... |
ORPHA:79476 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Abno... |
ORPHA:382 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Ves... |
ORPHA:231183 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Gastritis, Tachypnea, Episodic respiratory distress, Slurred speech,... |
ORPHA:31826 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef... |
ORPHA:542323 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Interstitial emphysema, Bronchiectasis, Dysmetria, Dilatation of the ren... |
OMIM:619708 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Usher Syndrome Type 1 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypof... |
ORPHA:231169 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Immunodeficiency 104 |
|
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Failure to... |
OMIM:608971 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... |
OMIM:269840 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Seizure, Emphysema |
OMIM:210050 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom... |
OMIM:153670 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... |
ORPHA:2968 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Petechiae, Reduced natural killer cell activity, Thrombocytop... |
ORPHA:540 |
Microlissencephaly |
|
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Pneumonia |
ORPHA:1083 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Ermine Phenotype |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... |
ORPHA:999 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, H... |
ORPHA:79477 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Optic disc hypoplasia, Aspiration pneumonia |
OMIM:609528 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Lymphopenia, Ataxia, Hypop... |
ORPHA:100 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Fabry Disease |
|
Conjunctival telangiectasia, Corneal dystrophy, Lymphedema, Nephropathy, Emphysema, Glomerulopath... |
ORPHA:324 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R... |
ORPHA:240103 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Aspergillosis |
|
Sinusitis, Vitritis, Intracranial hemorrhage, Neutropenia, Cough, Infectious encephalitis, Abnorm... |
ORPHA:1163 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Impaired T cell function,... |
OMIM:613179 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Recurrent otitis media, Reduction of neutro... |
OMIM:266265 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Neph... |
ORPHA:797 |
Huntington Disease-Like 1 |
|
Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria... |
ORPHA:157941 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc... |
ORPHA:54 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated ly... |
OMIM:269920 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax, Pulmonar... |
ORPHA:199241 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Subretinal pigment epithelium hemorrhage, Spasticity, Seizure, Coarse hair, Low-set e... |
ORPHA:357074 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Cataract, Corneal opacity, Cryptorchidism, Athetosis, Progres... |
ORPHA:2962 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Ataxia, Hemifacial spasm, Purpura, Edema, Tremor, Myocarditis, Myd... |
ORPHA:466677 |
Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Conjunctival hyperemia, Erythema nodosum, Leukocytosi... |
ORPHA:3392 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Rigidity, Optic atrophy, Respiratory fa... |
OMIM:619057 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis... |
OMIM:616726 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa... |
OMIM:601457 |
Neurofibromatosis-Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Prolonged bleeding time, Cryptorchidism, Abnormal helix morpho... |
ORPHA:638 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Rod-cone dystrophy, Chronic sinusitis, Recurrent bronchitis, High-freq... |
OMIM:300455 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Anorexia, Oral-ph... |
ORPHA:100083 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Epileptic spasm, Ataxia, Polyhydramnios, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclon... |
OMIM:619971 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Increased circulating IgE level, Wheezing, Asthma, Atelec... |
ORPHA:2902 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Ogden Syndrome |
|
Generalized-onset seizure, Apnea, Lymphedema, Protruding ear, Iron deficiency anemia, Hypertonia,... |
OMIM:300855 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal fingernail ... |
ORPHA:289 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... |
OMIM:618806 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Polyhydramnios, Renal salt wasting, Increa... |
OMIM:241200 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Crackles, Tachypnea, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:610978 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Splenomegaly, Giant platelets, Anemia, Arthritis, Corneal arc... |
OMIM:210250 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... |
OMIM:617638 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Microtia, Low-set ears, Emphysema, Failure to thrive, Breast hypoplasia |
OMIM:613804 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent upper respiratory trac... |
OMIM:300209 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly,... |
OMIM:226990 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... |
OMIM:620010 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Dyspnea, Pulmonary venous hypertension, Peripheral e... |
ORPHA:75249 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:158061 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Flat cornea, Eosinophilic infiltration of the esophagus, Pneumothorax, Emphysema, Br... |
OMIM:614816 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... |
ORPHA:858 |
Rigid Spine Syndrome |
|
Waddling gait, Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Large for gestational age, Respiratory insuffi... |
ORPHA:2432 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Irregular hype... |
ORPHA:2584 |
Macs Syndrome |
|
Prolonged bleeding time, Alopecia, Palpebral edema, Sparse eyebrow, Cryptorchidism, Urethral sten... |
OMIM:613075 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Myoclonus |
ORPHA:1352 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Bronchitis, Enuresis nocturna, Otitis media, Poor hand-eye coordinat... |
ORPHA:420741 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... |
OMIM:620321 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia |
OMIM:269600 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:235200 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Abnormal bleeding, Cataract, Ataxia, Polyhydramnios, Tremor, Recurrent pneu... |
OMIM:616271 |
Prader-Willi Syndrome |
|
Hypoventilation, Recurrent respiratory infections, Hypopigmentation of hair, Failure to thrive in... |
OMIM:176270 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Recurrent respiratory infections, Frontal balding, Early balding, Unsteady gait, Blue irides, Dys... |
ORPHA:3041 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Increased circulating gonadotropin level, Peripheral edema, Increased serum te... |
ORPHA:64739 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Seizure, Pneumonia |
ORPHA:85179 |
Pseudohypoparathyroidism Type 1A |
|
Cataract, Involuntary movements, Reduced circulating prolactin concentration, Band keratopathy, D... |
ORPHA:79443 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Atelis Syndrome 1 |
|
Glue ear, Cataract, Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Thrombocy... |
OMIM:620184 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:177910 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Conductive hearing impairment, Genera... |
ORPHA:1606 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Apnea, Hypospadias, Optic atrophy, Bronchiectasis, Respiratory insuffi... |
OMIM:618253 |
Benign Paroxysmal Torticollis Of Infancy |
|
Vertigo, Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi... |
ORPHA:352731 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Gait imbalance, Hypopigment... |
ORPHA:411511 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steatosis, Panc... |
OMIM:618805 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Facial edema, Nonproductive cough, Fulminant hepatitis, Periorbit... |
ORPHA:319213 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
Jeavons Syndrome |
|
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit... |
ORPHA:139431 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... |
OMIM:618459 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... |
ORPHA:723 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Sensorineural hearing impairment, Ocular albinism |
ORPHA:1000 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,... |
OMIM:612444 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Pericardial effusion, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Broad-based gait, Ataxia, Atonic seizure, Infantile spasms, Tremo... |
ORPHA:72 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Tachypnea, Abnormal ... |
OMIM:613658 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Wyburn-Mason Syndrome |
|
Cerebral palsy, Epistaxis, Hearing impairment, Cerebral hemorrhage, Subarachnoid hemorrhage, Hemi... |
ORPHA:53719 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ... |
ORPHA:98754 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cataract, Apnea, Pericardial effusion, Seizure, Anasarca, Peripheral edema,... |
OMIM:261740 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash, Microcytic anemia |
ORPHA:1059 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Conjunctival icterus, Elevated pulmonary artery pressure, Peripheral edema, As... |
ORPHA:57777 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Obesity, Seizure, Myoclonus, Gait imb... |
ORPHA:98794 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Retinal dystrophy, Inability to w... |
OMIM:616756 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Blue i... |
OMIM:261600 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Leukopenia, Aminoaciduria, Lymphocytosis, Cough, Hypospadias, Abnorm... |
OMIM:619991 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset... |
ORPHA:98795 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Noonan Syndrome |
|
Abnormal hair quantity, Low-set, posteriorly rotated ears, Abnormal bleeding, Lymphedema, Aplasia... |
ORPHA:648 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence... |
ORPHA:157946 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ... |
ORPHA:98793 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Tachypnea, Optic atrophy, Renal cyst, Seizure, Cough, Hemiplegia, Megalocornea, ... |
ORPHA:137675 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Small for gestational age, Ataxia, Hypospadias, Highly arched eyebrow, Tremor, General... |
OMIM:220111 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ... |
ORPHA:177904 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Bladder diverticulum, Overgrowth, Emphysema, Oligohydramnios |
OMIM:219100 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Small for gestational ... |
ORPHA:177901 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, ... |
OMIM:300310 |
Diarrhea 13 |
|
Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Pneumonia, Polyhydramnios, Thrombocytopenia, Cryptorchidism, Condu... |
OMIM:603467 |
Immunodeficiency 102 |
|
Leukopenia, Decreased circulating IgG level, Partial absence of specific antibody response to Hae... |
OMIM:301082 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ... |
OMIM:613177 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Sensorineural hearing impairment, Optic ... |
OMIM:604928 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Asbestos Intoxication |
|
Reduced vital capacity, Edema, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive ... |
ORPHA:2302 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Synophrys, Recurrent upper respiratory tract infections, Macrotia, Increased body... |
ORPHA:589905 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:897 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Rod-cone dystrophy, Weight loss, Opisthotonus, Pigmentary r... |
ORPHA:216866 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Small for gestational age, Posteriorly rotated ears, Cryptorchi... |
OMIM:616835 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Hyperactivity, Restlessness, Decreased HDL cholesterol concentrati... |
ORPHA:247585 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Hydrops fetalis, Macular degeneration, C... |
ORPHA:333 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Small for gestational age, Hyperconvex nail, Cryptorchidism, Micropenis, Mi... |
OMIM:224690 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Apnea, Episodic tachypnea, Parkinsonism, Poor motor coordination, Bilateral to... |
ORPHA:79264 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... |
ORPHA:443811 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Papillary renal cell carcinoma, Intr... |
ORPHA:363618 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Anemia |
ORPHA:75563 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Paraplegia, Hepatosplenomegaly, Urinary... |
ORPHA:79124 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Spotty hyperpigmentation, Leukemia, Histiocytosis |
ORPHA:157991 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Primary Ciliary Dyskinesia |
|
Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal respiratory distress, Res... |
ORPHA:244 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema |
OMIM:115197 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Mixed hearing impairment, Ataxia, Pneumonia, Corneal opacity, Ca... |
ORPHA:309288 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Tremor, Inability to walk, Sen... |
ORPHA:52368 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Synophrys, Hyperprolinemia, Long eyelashes, Hyperalaninemia |
OMIM:619064 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low po... |
OMIM:617303 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Immunodeficiency 23 |
|
Increased circulating IgG level, Neutropenia, Conductive hearing impairment, Hemolytic anemia, Me... |
OMIM:615816 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls |
ORPHA:79136 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Concave nail, Tremor, Cryptorchidism, Blue irides, Spasticity, Fin... |
OMIM:300978 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Hypoplasia of penis, Small for gestational age, Alopecia, Long eyebrows, C... |
OMIM:275400 |
Bloom Syndrome |
|
Bronchitis, Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigmentation ... |
ORPHA:125 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Increased mean platel... |
OMIM:222470 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Respiratory insufficiency, Low posterior hairline, Seizure, Hyperton... |
ORPHA:1895 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
Transcobalamin Deficiency |
|
Lymphopenia, Abnormality of chromosome stability, Pancytopenia, Methylmalonic aciduria, Decreased... |
ORPHA:859 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Eosinophilia, Pneumonia, Hearing impairment, Recurrent pneumonia, Chronic muc... |
OMIM:158310 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Neonatal respiratory distress, Small for gestational age, Ectopia lentis, Hypoxemia... |
ORPHA:284979 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Omenn Syndrome |
|
Failure to thrive, Alopecia, Pneumonia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Thyroidi... |
ORPHA:39041 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Bilateral tonic-clonic seizur... |
ORPHA:464282 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Low-set... |
OMIM:242860 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti... |
OMIM:618986 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Increased circulating procalcitonin concentration, Neutrophilia, Pneumonia,... |
ORPHA:36238 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyo... |
ORPHA:367 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... |
OMIM:208900 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Decreased proportion of ... |
ORPHA:276 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia |
OMIM:603278 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Cataract, Pneumothorax, Recurrent pneumonia, Respiratory insu... |
ORPHA:90349 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Protruding ear, Recurrent aspiration pneumonia, Intention tremor, Neonatal respiratory distress, ... |
ORPHA:221139 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Dyspnea, Reticular hyperpigmentation, Nail pits, ... |
OMIM:127550 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair,... |
OMIM:252900 |
Brucellosis |
|
Bronchitis, Chorea, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious ... |
ORPHA:1304 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Keratoconus, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repe... |
OMIM:130050 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... |
OMIM:214900 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Microcorn... |
ORPHA:3214 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Anorexia, ... |
ORPHA:2930 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Low po... |
ORPHA:85194 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Postural tremor, Involuntary movements, Jerky head movements, Action tremor |
ORPHA:98807 |
Q Fever |
|
Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Maculopapular exanthema, Per... |
ORPHA:781 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Impaired distal vibration sensation, Impaire... |
OMIM:604360 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc... |
ORPHA:1855 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Cryptorchidism, Pulmonary artery stenosis, Fine hair, Hyper... |
ORPHA:276432 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Methionine Malabsorption Syndrome |
|
Tachypnea, Blue irides, White hair, Seizure, Aminoaciduria |
OMIM:250900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ... |
OMIM:614034 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost... |
ORPHA:449280 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Curly hair, Posteriorly rotated ears, Polyhydramnios, La... |
OMIM:610733 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Bronchiolitis, Loss of ambulation, Frequent falls, Exertional dy... |
ORPHA:254361 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... |
ORPHA:158029 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Increased circulating mye... |
ORPHA:36234 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Paresthesia, Cough, ... |
ORPHA:2357 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Ly... |
OMIM:102700 |
Usher Syndrome Type 2 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Abnormality of the inner ear, Iris hypopigmen... |
ORPHA:231178 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Unilateral lung agenesis, Failure to thrive in infancy, Generalized-onset seizure, Un... |
ORPHA:500150 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Paraplegia, Weight loss, Restrictive ventilator... |
ORPHA:98897 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Dyspnea, Nonproductive cough, Recurrent pneumonia, B... |
ORPHA:980 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Renal tubular acidosis, Progressive spastic quadriplegia, Organic aciduria, Seiz... |
ORPHA:431361 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... |
ORPHA:204 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363558 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Tubulointerstitial fibrosis, Hyper... |
OMIM:607944 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Abnormal hair m... |
ORPHA:2314 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... |
ORPHA:37042 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Folate-dependent fragile site at Xq28, Sei... |
OMIM:300624 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Generalized hi... |
ORPHA:2221 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair,... |
OMIM:252930 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, White hair, Spastic paraplegia, Tracheomalacia, Thick eyebrow, Hearing impairment |
ORPHA:896 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Hypertonia, Hemolytic anemia, Chilblains, Pericardial effusion, Hepati... |
OMIM:615846 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Gm1 Gangliosidosis |
|
Tremor, Hydrops fetalis, Decerebrate rigidity, Aspiration pneumonia, Cherry red spot of the macul... |
ORPHA:354 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count, Hyperpigmentation... |
OMIM:609981 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eosinophili... |
OMIM:618282 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... |
OMIM:613807 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Small for gestational age, Eczema, Catarac... |
OMIM:610443 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Abnormal fingernail morphology, Lymp... |
ORPHA:662 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Conductive hearing i... |
OMIM:244400 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Neutropenia, Maculopapular... |
ORPHA:228119 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Hearing impairment, Abnormal lung lobation, Obesity, Renal cyst, ... |
ORPHA:369837 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Pancre... |
ORPHA:79312 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Renal insufficiency, Ataxia, Cataract, Cr... |
ORPHA:2377 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Overweight, Tremor, Seizure, Hyperkinetic movements, Gait disturb... |
ORPHA:457240 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym... |
OMIM:619750 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... |
OMIM:620233 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Nail dystrophy, Irregular hyperpigmentatio... |
ORPHA:3162 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Abnormality of ... |
ORPHA:177907 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Recurrent respiratory infections, Hemolytic anemia, Reticulocyto... |
OMIM:618278 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Apnea, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesity, ... |
OMIM:300055 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... |
OMIM:618886 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori... |
ORPHA:183675 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Generalized-onset seizure, Edema, Tremor, Dysmetria, Renal cyst, Decreased circulating IgG level,... |
OMIM:212065 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Calcification of the auricular cartilage, Hearin... |
OMIM:245150 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cryptorchidism,... |
ORPHA:1867 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Abnormality of the kidney, Overweight, Recurrent upper respiratory tra... |
ORPHA:391372 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Shigellosis |
|
Acute colitis, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, L... |
ORPHA:810 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Perimembranous ... |
OMIM:608104 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Postural tremor, Ede... |
OMIM:254900 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Retinal cotton wool spot, Generalized-onset seizu... |
ORPHA:247691 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Cryptorchidism, Slurred speech, Progressive cerebellar ataxia... |
ORPHA:2834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita... |
OMIM:619046 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, Pedal edema, Vesicoureteral reflux, Chronic otitis media, Conductiv... |
ORPHA:821 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Dysphagia |
ORPHA:77260 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Re... |
OMIM:616433 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos... |
ORPHA:292 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Retinal detachment, Arthralgia/arthritis, Spontaneous pneumothorax, ... |
ORPHA:558 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Ataxia, Bilateral tonic-clonic seizure,... |
ORPHA:79243 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... |
ORPHA:1667 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Protruding ear, Bladd... |
ORPHA:90348 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... |
ORPHA:2298 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Abnormal pyramidal sign, Coarse hair, Hypertonia, Aspiration pneumonia, Otitis media, ... |
ORPHA:581 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Inability to walk, Chorea, Seizure, Respiratory failure, Spasti... |
ORPHA:70472 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Loss of ambulation, Neonatal respiratory distress, Hypospadias, Brushfield spots, ... |
OMIM:214100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... |
OMIM:212140 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polyhydramnios, Cryptorchidism, Obesity, Respiratory insufficie... |
OMIM:615633 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Pericardia... |
OMIM:619487 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Seborrheic dermatitis, Splenomegaly, Babinski sign, Truncal obesity, Low... |
OMIM:301072 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Cataract, Hyperpigmentation of the skin,... |
ORPHA:454831 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... |
ORPHA:54251 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
48,Xxyy Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Apnea, Ataxia, Tremor, Cryptorchidism, Ast... |
ORPHA:10 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Lymphangiectasis |
OMIM:602579 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ... |
OMIM:619468 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circulating ... |
OMIM:602450 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... |
OMIM:612649 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesit... |
OMIM:614962 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... |
ORPHA:824 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Glomerulopathy, Renal insufficiency, Ataxia, Abnormality of the... |
ORPHA:1764 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Increased circulating IgG level, Emphysem... |
OMIM:619472 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ... |
ORPHA:83471 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Prolonged prothromb... |
ORPHA:91547 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,... |
OMIM:614878 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho... |
ORPHA:75564 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Respiratory failure, Ascites, Increased body weight |
ORPHA:890 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Chorioretinal dysplasia, Abnormal pupil morphology, Dehydration, Oligosacchariduria, Neph... |
ORPHA:534 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... |
ORPHA:829 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... |
OMIM:618541 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Edema, Paronychia, Renal cyst, Gastrointestinal inflamm... |
ORPHA:79404 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... |
ORPHA:70588 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Apnea, Palpebral edema, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmen... |
OMIM:214110 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Pneumonia, Conductive hearing impairment, Optic atrophy, Respirato... |
ORPHA:2135 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... |
OMIM:307200 |
Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ... |
OMIM:615518 |
Relapsing Polychondritis |
|
Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Alopecia, Atelectasis, Vertigo, Hepat... |
ORPHA:728 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Decrea... |
OMIM:615500 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Marfan Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Emphysema, Pneumothorax, Premature osteoarthritis, ... |
OMIM:154700 |
Alg12-Cdg |
|
Edema, Polyhydramnios, Micropenis, Hypospadias, Partial absence of specific antibody response to ... |
ORPHA:79324 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615504 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Synophrys, Renal cyst, Microcornea, Hypertonia, Otitis media, Vesicoureteral refl... |
OMIM:122470 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility, Hearing impairment |
ORPHA:49042 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Edema, Nephrotic range proteinuria, Acute colitis, Hemolytic anemia, Respiratory tract in... |
ORPHA:544482 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Apnea, Ataxia, Edema, Spastic hemiparesis, Leukocytosis, Tachypnea... |
ORPHA:20 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension |
ORPHA:79319 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... |
ORPHA:465508 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Speech apraxia, Epileptic spasm, Apnea, Bilateral tonic-cl... |
ORPHA:314655 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, Cherry red... |
ORPHA:845 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Chops Syndrome |
|
Curly hair, Thick eyebrow, Cataract, Thick hair, Thickened helices, Splenomegaly, Cryptorchidism,... |
OMIM:616368 |
Baralle-Macken Syndrome |
|
Cataract, Urinary incontinence, Inability to walk, Focal-onset seizure, Obesity, Spasticity, Cafe... |
OMIM:619255 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Increased body weight, Hepatitis, Weight loss, Clumsiness, Arthri... |
ORPHA:905 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Absent toenail, Right ... |
OMIM:616028 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Petechiae, Cryptorchidism, Paraplegia, Anemia, L... |
OMIM:617053 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia,... |
OMIM:235510 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:613808 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia... |
ORPHA:53351 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Abnormal pinna morphology, Emphysema, Overgrowth, Low-set ears, Pulmonary artery aneurysm, Pulmon... |
OMIM:614437 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Listeriosis |
|
Respiratory distress, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephali... |
ORPHA:533 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Generalized-onset seizure, Posteriorly rotated ears, Highly arched ... |
OMIM:619087 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... |
ORPHA:85443 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,... |
OMIM:614702 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl... |
OMIM:619705 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Cerebral edema |
OMIM:608033 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi... |
ORPHA:486 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Spastic tetraparesis, Unsteady gait, Abnormal pyramidal sign, Optic atrophy, Seizure, Apn... |
ORPHA:35069 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... |
ORPHA:85451 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Tako-Tsubo Cardiomyopathy |
|
Dyspnea, Seizure, Obesity, Pulmonary edema |
ORPHA:66529 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... |
OMIM:300291 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, X... |
ORPHA:289390 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... |
OMIM:615895 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Generalized-onset seizure, Hypospadias, Large for gestational age, Cryptorchidism, As... |
ORPHA:457485 |
Gaucher Disease, Type Ii |
|
Apnea, Rigidity, Splenomegaly, Oculomotor apraxia, Stridor, Anemia, Seizure, Hypertonia, Cough, B... |
OMIM:230900 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... |
OMIM:616481 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... |
ORPHA:64280 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... |
OMIM:619611 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin, Polyphagia, Cholestasis |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin, Polyphagia, Cholestasis |
ORPHA:71526 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased circulating androgen co... |
ORPHA:293978 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Syndromic Diarrhea |
|
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic ... |
ORPHA:84064 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Gaucher Disease |
|
Tremor, Osteoarthritis, Hydrops fetalis, Abnormality of skin pigmentation, Cherry red spot of the... |
ORPHA:355 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... |
OMIM:210900 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... |
OMIM:616037 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Small for gestational age, Conductive hearing impairment, Bruising susce... |
OMIM:616229 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Chronic otitis media, Thromboc... |
ORPHA:169090 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Ataxia, Eczema, Obesity, Protruding ear, Large earlobe, Seizure, Organic ac... |
OMIM:620191 |
Progressive Hemifacial Atrophy |
|
Seizure, Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... |
OMIM:300842 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... |
ORPHA:98850 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Morbilliform ra... |
ORPHA:228123 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction... |
OMIM:253250 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Angioedema, Hepatiti... |
ORPHA:139402 |
Nail-Patella Syndrome |
|
Impaired temperature sensation, Nephritis, Abnormality of the nail, Abnormality of the kidney, Th... |
ORPHA:2614 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Hyperconvex nail, Prominent eyelashes, Lymphadenopath... |
ORPHA:353298 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Posterior embryotoxon, Hypospadias, Abnormal chorioretinal morpholo... |
ORPHA:912 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hydrops fetalis, Hepatosplenomegaly, Seizure, Urinary glycosaminogl... |
ORPHA:79255 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Cough,... |
ORPHA:73263 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ketonuria, Ataxia, Lacticaciduria, Seizure, Myoclonus, Aspiration pneumonia |
OMIM:619167 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Thrombocytopenia, Splenomegaly, Lympha... |
ORPHA:47612 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Sterile pyur... |
ORPHA:449395 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditi... |
ORPHA:549 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Hypoplastic toenails, Splenomegaly, Hepatic fibro... |
OMIM:616589 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu... |
OMIM:619229 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thick hair, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal... |
ORPHA:505248 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n... |
OMIM:618063 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Eczema, Hearing impairment, Sclerocornea, Cryptor... |
ORPHA:284160 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Blue irides, Obesity, Limb tremor, Clumsiness, Seizure, Progressive gai... |
OMIM:105830 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Dehydrati... |
ORPHA:2552 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Proteinuria, Anterio... |
ORPHA:1018 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... |
OMIM:613070 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Unilateral cryptorchidism, Hypospadias, Polyhydramnios, Bilateral cryptorch... |
OMIM:300219 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment, Heterochromia iridis |
OMIM:616460 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Ataxia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Pr... |
OMIM:212750 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... |
ORPHA:3384 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc... |
ORPHA:3322 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Fetal ascites, Tremor, Abnormal lung morpholog... |
ORPHA:646 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis, Tremor |
ORPHA:66633 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... |
OMIM:619644 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Decrea... |
ORPHA:89842 |
Horner Syndrome, Congenital |
|
Heterochromia iridis, Paralysis |
OMIM:143000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Hyposegmentation of neutrophil nu... |
OMIM:620075 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... |
ORPHA:1390 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Atelectasis, Inability to walk, Focal-onset seizure, Generalized non-m... |
ORPHA:258 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Polyhydramnios, Abnormal lung lobation, Hypoplasia of the thymus, Vesic... |
ORPHA:567 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Oroticaciduria, Intraalveolar phospholipid accumulation, Respiratory insufficiency,... |
OMIM:222700 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Elevated circulating growth hormone concentration, Dyspnea, Nonproductive cough, Asthm... |
ORPHA:97287 |
Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph... |
OMIM:239850 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Spastic paraplegia, Blue irides, Hypopigmented skin patches, Sensori... |
OMIM:148820 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Unsteady gait, Blue irides |
OMIM:615516 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements, Nephronophthisis |
OMIM:257550 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Self-injurious behavior, Attention deficit hyperactivity disorder, Hype... |
ORPHA:79254 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
Abetalipoproteinemia |
|
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Steppage gait, H... |
ORPHA:14 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Smith-Magenis Syndrome |
|
Retinal detachment, Impaired pain sensation, Synophrys, Abnormal renal morphology, Increased body... |
OMIM:182290 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bu... |
ORPHA:391428 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
Digeorge Syndrome |
|
Impaired T cell function, Sclerocornea, Hypoplasia of the thymus, Acne, Decreased circulating par... |
OMIM:188400 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... |
OMIM:620296 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Large for gestational age, Cryptorchidism, Low-set ears, Pleu... |
OMIM:615355 |
Lissencephaly Due To Lis1 Mutation |
|
Infantile spasms, Polyhydramnios, Focal motor seizure, Tetraplegia, Opisthotonus, Progressive spa... |
ORPHA:95232 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Anemia |
OMIM:614450 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... |
ORPHA:160 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Macular... |
OMIM:616629 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cryptorchidism, Blue irides, Obesity, Red hair, Fair hair |
OMIM:614613 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Right ventricular ... |
OMIM:601214 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Corneal scarring, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod... |
ORPHA:404454 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... |
OMIM:614935 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Anemia, Seizure, Aminoaciduria, Bone marrow hypocellularity... |
OMIM:614520 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Attention def... |
OMIM:269921 |
Wilson Disease |
|
Hepatomegaly, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Constrictive peric... |
ORPHA:67 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, An... |
ORPHA:811 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Ataxia, Pneumonia, Respiratory tract infection, Pustule, Hemiparesis, Intrarenal absce... |
ORPHA:68 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Reni Syndrome |
|
Lymphopenia, Hypoalbuminemia, Hyperpigmentation of the skin, Hypertriglyceridemia |
OMIM:617575 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Ectopic kidney, Optic atrophy, Arthritis, Generalized myoclonic seizure |
OMIM:613328 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnormality of the spleen, Lymphaden... |
ORPHA:79456 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Edema, Polyhydramnios, Cryptorchidism, Abnormal resp... |
ORPHA:98905 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Splenomegaly... |
OMIM:306400 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Pericardial effusion, Crypt... |
OMIM:618280 |
Degcags Syndrome |
|
Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Vocal cord paralysi... |
OMIM:619488 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Abn... |
ORPHA:647 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Generalized-onset seizure, Renal cyst, Hypospadias, Brushfield spots, Cryptorchidism, Hepatosplen... |
OMIM:614866 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Recurrent urinary tract infections, Ataxia, Pneumonia, Highly ar... |
ORPHA:309282 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Optic atrophy, Respiratory ins... |
OMIM:618329 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... |
ORPHA:186 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ... |
OMIM:616005 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Pulmonary cyst, Large for gestational age, Overgrowth, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Laurence-Moon Syndrome |
|
Ataxia, Spastic paraplegia, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis |
OMIM:245800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... |
OMIM:619381 |
Immunodeficiency 10 |
|
Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... |
OMIM:617092 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Increased circulating farnesol concentration, Abnormality of hair pigmenta... |
OMIM:618156 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive pr... |
ORPHA:50918 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... |
OMIM:606763 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Increased body weight, Horseshoe kidney,... |
OMIM:300860 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Abnormality of the subungual region, Internal hemorrhage, Splenic rupture, Opi... |
ORPHA:335 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Lafora Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal... |
ORPHA:501 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Renal agenesis, Optic disc hypoplasia, Abno... |
OMIM:300514 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Loss of ambulation, Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia |
OMIM:235555 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Posteriorly rotated ears, Ureteral hypoplasia, Polyhydramn... |
OMIM:614080 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He... |
ORPHA:39812 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Sparse hair, Hy... |
OMIM:615508 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Seizure, Pneumonia, Bronchitis |
OMIM:601005 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Esophagitis |
ORPHA:1901 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial ... |
ORPHA:77259 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Impaired pain sensation, Cryptorchidism, Obesity, Atopic dermat... |
ORPHA:412035 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Pulmonary embolism, Tremor, ... |
ORPHA:94093 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Recurrent pneumonia, Recurrent upper respiratory tract infections, Persistence of hem... |
OMIM:619769 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Anemia, A... |
OMIM:230800 |
Sialuria |
|
Upper airway obstruction, Hepatosplenomegaly, Seizure, Prolonged prothrombin time, Hyperkinetic m... |
ORPHA:3166 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Generalized hirsutism, Abnormality of the nail,... |
ORPHA:2348 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Stapes ankylosis, Abnormality of the middle ear ossic... |
ORPHA:90646 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... |
ORPHA:398124 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infe... |
OMIM:251260 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickene... |
ORPHA:261494 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Retinal dystrophy, Chronic kidney disease... |
ORPHA:261222 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Cog8-Cdg |
|
Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Seizure, Myoclonus, Failure to thrive |
ORPHA:95428 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, Ataxia, White eyebrow, Cryptor... |
OMIM:609136 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Absent toenail, Absent fingernail... |
ORPHA:158687 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... |
ORPHA:53035 |
Megalocornea |
|
Retinal detachment, Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Macrocephaly/Autism Syndrome |
|
Speech apraxia, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased cir... |
OMIM:605309 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Cataract, Ataxia, ... |
OMIM:209900 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... |
ORPHA:2268 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Ataxia, Leukocoria, Nail pits, Fine hair, E... |
OMIM:268130 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Skin ... |
ORPHA:90062 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... |
OMIM:617093 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Follicular ... |
OMIM:615934 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Abnormality of the sple... |
ORPHA:31202 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Marburg Hemorrhagic Fever |
|
Nonproductive cough, Uveitis, Dehydration, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyt... |
ORPHA:99826 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Recurrent upper respiratory tract infections, Decreased T cell activation... |
ORPHA:66628 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Hypermelanotic ... |
ORPHA:33276 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Cutaneous Mastocytoma |
|
Hypermelanotic macule, Hyperpigmentation of the skin, Lymphadenopathy |
ORPHA:79455 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracra... |
ORPHA:99147 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiomyopathy, Premature g... |
OMIM:613989 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Synophr... |
OMIM:610253 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Torticollis, Mixed hearing impairment, Posteriorly rotated ... |
ORPHA:536467 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia, Polyphagia, Cholestasis |
OMIM:609734 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Decreased serum leptin, Recurrent upper respiratory t... |
ORPHA:179494 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Corneal dystrophy, Large for gestational age, Birth length greater tha... |
ORPHA:314588 |
Short-Rib Thoracic Dysplasia 12 |
|
Posteriorly rotated ears, Abnormal pinna morphology, Edema, Polyhydramnios, Splenomegaly, Atelect... |
OMIM:269860 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplastic toena... |
OMIM:608836 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Hyperinsulinemia, Increased body weight, Seizure, Hyperinsulinemic hypoglycemia |
ORPHA:276608 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneumonitis, Ac... |
ORPHA:330021 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy... |
OMIM:304790 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Impaired temperature sensation, Crypt... |
ORPHA:398079 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:1501 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Hematemesis, Esophagitis, Anemia |
ORPHA:71272 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Seizure, Abno... |
ORPHA:251004 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cou... |
ORPHA:95455 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Ascites, Prolonged prothrombin time, Pleural effusion, Failure to thrive |
OMIM:617049 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hearing impairment, Respiratory insufficiency due to muscle weak... |
ORPHA:365 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Synophrys, Coronary ar... |
OMIM:614294 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Nail dystrophy, I... |
ORPHA:98813 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Renal insufficiency, Apnea, ... |
ORPHA:397715 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Anorexia, Splenomegaly, ... |
ORPHA:3452 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Xerostomia, Ureterocele, Sparse hair, Vesicoureteral reflux, Micropenis, Conductive hearing impai... |
OMIM:129900 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ... |
OMIM:610842 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tremor, Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Prominent superior crus... |
ORPHA:280633 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat... |
ORPHA:231226 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Recurrent respiratory infections, Thick eyebrow, Posteriorly rotated ears, Bilateral tonic-clonic... |
ORPHA:466950 |
Acquired Purpura Fulminans |
|
Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrh... |
ORPHA:49566 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestatio... |
ORPHA:544488 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Inability to walk, Unsteady gait, Recurrent pneumonia, Obesity, Optic atrophy, S... |
OMIM:618493 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... |
OMIM:617156 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... |
ORPHA:26793 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Impaired temperature sensation, Crypt... |
ORPHA:398069 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... |
OMIM:618641 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia, Ascite... |
OMIM:608013 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy... |
OMIM:617591 |
Cholera |
|
Abnormality of renal excretion, Tachypnea, Dehydration, Seizure, Aspiration pneumonia, Acute kidn... |
ORPHA:173 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan ... |
OMIM:253200 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... |
ORPHA:677 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatos... |
ORPHA:1333 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy... |
ORPHA:2686 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Microvesicular h... |
OMIM:619418 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypoplastic toenails, Synophrys, Aspiration pneumonia, Conductive hearing impairment, Vesicourete... |
ORPHA:444077 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
Autoimmune Hepatitis |
|
Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosi... |
ORPHA:2137 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Insulinoma |
|
Tremor, Hearing abnormality, Fasting hyperinsulinemia, Hyperinsulinemia, Increased body weight, S... |
ORPHA:97279 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
Sotos Syndrome |
|
Posteriorly rotated ears, Abnormality of the kidney, Sparse eyebrow, Cryptorchidism, Poor coordin... |
OMIM:117550 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Pneumonia, Increased circulating ACTH level, Seizure, Abnor... |
ORPHA:90790 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Albinism, Large for gestatio... |
OMIM:600501 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... |
ORPHA:1655 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia, Hyper... |
OMIM:612291 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Low anterior hairline, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Knobloch Syndrome 1 |
|
Myoclonic seizure, Persistent pupillary membrane, Attenuation of retinal blood vessels, Renal dup... |
OMIM:267750 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Cerebellar hemorrhage, Cerebral edema, Prolonged prothrombin time, Failure... |
ORPHA:99901 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Abnormal chorioretinal morphology, Dilatated internal auditory canal, C... |
ORPHA:1435 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch... |
ORPHA:514 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Tremor, Hyperinsulinemia, Increased body weight, Glycosur... |
ORPHA:263455 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia... |
OMIM:616430 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ex... |
ORPHA:233 |
Miller-Dieker Lissencephaly Syndrome |
|
Epileptic spasm, Cataract, Posteriorly rotated ears, Infantile spasms, Polyhydramnios, Cryptorchi... |
OMIM:247200 |
Cleft Velum |
|
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia |
ORPHA:99772 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Oroticaciduria, Seizure, Prolonged prothrombin time, Episodic ataxia, Failure to thrive, ... |
OMIM:311250 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Rabin-Pappas Syndrome |
|
Hypoventilation, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplas... |
OMIM:620155 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Neurofibromatosis Type 1 |
|
Chorioretinal coloboma, Heterochromia iridis, Ataxia, Abnormality of the upper urinary tract, Cry... |
ORPHA:636 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Fetal pyelectasis, Obesity, Abnormal earlobe morphology, Hem... |
ORPHA:96168 |
Marshall-Smith Syndrome |
|
Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Hypertonia, Aspiration pneumonia, Spars... |
OMIM:602535 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Bilateral cryptorchidism, Sensorineural hearing impairment, Recurrent p... |
OMIM:300472 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Hypermelanotic macule, Elevated circulating C-reactive protein concentration, Splen... |
ORPHA:32960 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Addictive al... |
ORPHA:520 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Xerostomia, Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Blue ... |
OMIM:604292 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100080 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, Hirsutism |
ORPHA:2463 |
Noonan Syndrome 9 |
|
Curly hair, Hydroureter, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchidism, Prolonge... |
OMIM:616559 |
Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Arthriti... |
ORPHA:36397 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Hyperpigmentation of the skin, Micro... |
ORPHA:168569 |
Poems Syndrome |
|
Pericardial effusion, Leukonychia, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Viscer... |
ORPHA:2905 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Alopecia, Pericardial effusion, Lymphadenopathy, Leukopenia, Microangiopathic hemoly... |
ORPHA:93552 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr... |
ORPHA:391487 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Large for gestational age, Gait ataxia, Myoclonic seizure, Chorioretinal colobo... |
OMIM:280000 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the nail, Cardiomegaly |
ORPHA:349 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Extramedullary hematopoiesis, Renal cyst, Prolonged prothrombin... |
ORPHA:79303 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Splenomegaly, Sensorineural hearin... |
ORPHA:163746 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of the skin, Hypopigmentation of hair, Edema, ... |
ORPHA:739 |
Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Low anterior hairline, Nephrocalcinosis, Absent fingernail,... |
ORPHA:79500 |
Trisomy 8P |
|
Posteriorly rotated ears, Cryptorchidism, Fetal pyelectasis, Recurrent upper respiratory tract in... |
ORPHA:264450 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:142 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicysti... |
ORPHA:110 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Splenomegaly, Med... |
ORPHA:379 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Splenome... |
OMIM:263700 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... |
ORPHA:567983 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa... |
ORPHA:90363 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Purpura, Petechiae, Hypopnea, Leukopenia, Prolonged prothr... |
ORPHA:2330 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri... |
OMIM:617306 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Dysphagia, Right ventricular hypertrophy, Car... |
ORPHA:268 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Seizure, Pro... |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo... |
OMIM:614947 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
Coffin-Siris Syndrome |
|
Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Hypospadias, Hearing impairment, Cry... |
ORPHA:1465 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Williams Syndrome |
|
Hypoplasia of penis, Hypoplastic toenails, Tremor, Periorbital edema, Dysmetria, Abnormal tubuloi... |
ORPHA:904 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Involuntary movements, Ep... |
ORPHA:438213 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Synophrys, Protruding ear, Abnormality of skin pigmentation, Hypertonia, ... |
OMIM:619475 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Seizure, ... |
OMIM:619482 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Kabuki Syndrome 1 |
|
Protruding ear, Micropenis, Recurrent aspiration pneumonia, Hemolytic anemia, Highly arched eyebr... |
OMIM:147920 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, P... |
ORPHA:71212 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Nail-Patella Syndrome |
|
Ridged nail, Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Concave... |
OMIM:161200 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Lymphedema, Abnormal lung lobation, Renal cyst, Abnorm... |
ORPHA:744 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Renal insufficiency, Periodic paralysis, Splenomegaly, Nephrocalcino... |
OMIM:276700 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Ataxia, Renal agenes... |
ORPHA:478 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Cataract, Hypospadias, Pneu... |
ORPHA:353281 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Asthma, Nasal flaring, Synophrys, Obesi... |
ORPHA:466943 |
Plague |
|
Respiratory distress, Chapped lip, Abnormal bleeding, Skin rash, Mydriasis, Edema, Erythema nodos... |
ORPHA:707 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Porta... |
OMIM:207800 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Palpebral edema, Abnormality of the upper urinary tract, Highly arched eyebrow, Iris... |
ORPHA:2995 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Somatic sensory dysfunction, Fasciitis, Osteomyelitis, Impaired temperature s... |
ORPHA:642 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Choles... |
OMIM:270400 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, S... |
ORPHA:79644 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Acne, Paradoxical increased cortisol secretion on dex... |
ORPHA:189427 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertonia, Hypoplasia of the thymus, Small earlobe, Intention tremor, Absent eyebrow, Alopecia, ... |
OMIM:264090 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of ... |
ORPHA:97289 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Cystinosis, Nephropathic |
|
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypopigment... |
OMIM:219800 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Xerostomia, Abnormality of skin pigmentation, Cough, Alopecia, Bronchiectasis, Bronchi... |
ORPHA:99921 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Osteoarthritis, Bladder diverticulum, Blepharochalasis, Joint swelling, ... |
ORPHA:287 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Anorexia, Splenomegaly, Lymphadenopa... |
ORPHA:33226 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Elevated circulating thyr... |
OMIM:274300 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An... |
ORPHA:100082 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A... |
ORPHA:1791 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Obesit... |
ORPHA:552 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic peptide conc... |
ORPHA:100093 |
Chand Syndrome |
|
Curly hair, Hydroureter, Ataxia, Atelectasis, Nail dysplasia |
ORPHA:1401 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroi... |
OMIM:101800 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card... |
OMIM:620306 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia |
ORPHA:79076 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... |
ORPHA:3205 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Cataract, Hypospadias, Abnormality of hair textur... |
ORPHA:96169 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Thick eyebrow |
OMIM:230000 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse eyebrow, Sp... |
OMIM:252500 |
Brittle Cornea Syndrome 1 |
|
Red hair, Mitral valve prolapse |
OMIM:229200 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Conjunctivitis, Chronic otitis m... |
OMIM:616268 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the e... |
ORPHA:1784 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy... |
OMIM:193500 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperpigmentation of... |
OMIM:256040 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
Yellow Fever |
|
Abnormal bleeding, Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, Exce... |
ORPHA:99829 |
Williams-Beuren Syndrome |
|
Vocal cord paralysis, Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micrope... |
OMIM:194050 |
Cystic Fibrosis |
|
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... |
OMIM:219700 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, Aspiration, H... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, Aspiration, H... |
ORPHA:353277 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Ataxia, Sensorineural hearing impairment, Obesity, Abnormal granulocyte morphology, Dif... |
ORPHA:98907 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Seizure, Prolonged prothrombin time, Failure to thrive, Sensorineural hearing impairment |
OMIM:614300 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, Sensorineural hearing impairment, Hematochezia, Ren... |
OMIM:619575 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of hair texture, Splenomegaly, Lym... |
ORPHA:667 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Polyhydramnios, Large for gestational age, Cry... |
OMIM:229850 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Hyperpigment... |
ORPHA:293173 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Highly arched eyebrow, Cardiomegaly |
OMIM:618143 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Sensorineural hearing impairment, Corneal erosion, Abnorma... |
ORPHA:90354 |
Hennekam Syndrome |
|
Sparse axillary hair, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenop... |
ORPHA:2136 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Acne, Paradoxical increased cortisol secreti... |
ORPHA:96253 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Nephrocalc... |
ORPHA:94086 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Recurrent respiratory infections, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bila... |
OMIM:614231 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Increased body weight, Increased circulating cortisol level, Primary hypercortiso... |
OMIM:615830 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis |
OMIM:142680 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:64 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Hypoalbuminemia, Small nail |
OMIM:251300 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia, Polyhydramnios |
OMIM:617809 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Pmm2-Cdg |
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Respiratory distress, Lymphedema, Elevated circulating thyroid-stimulating hormone concentration,... |
ORPHA:79318 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Po... |
OMIM:269700 |
Xfe Progeroid Syndrome |
|
Ascites, Hypoalbuminemia |
OMIM:610965 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Prolonged prothrombin time, Low-set ears, Neutropenia, Failure to thrive, Thro... |
OMIM:617941 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest... |
ORPHA:30391 |
Carney Triad |
|
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites, Anemia |
ORPHA:139411 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Low posterior h... |
OMIM:245600 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia, Retinal coloboma |
OMIM:258865 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Sinusitis, Nasal polyposis, Hearing impairment, Reduced forced ... |
ORPHA:586 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Polyhydramnios, Sclerocornea, Abnormal lung lobation, Hypertonia, Iris colob... |
ORPHA:818 |
Ectopia Lentis Et Pupillae |
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Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Gaisböck Syndrome |
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Overweight, Dyspnea, Splenomegaly, Vertigo, Increased mean corpuscular hemoglobin concentration, ... |
ORPHA:90041 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Iris atrophy, Optic disc pallor, Cataract, Reti... |
ORPHA:263479 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
ORPHA:567546 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Polyphagia, Cardiomyopathy,... |
OMIM:608594 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Renal tubular acidosis, M... |
ORPHA:264580 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Recurrent cutaneous fungal infections, Pedal edema, Hypergastrinemia, Ecch... |
ORPHA:99889 |
Infantile Liver Failure Syndrome 2 |
|
Seizure, Prolonged prothrombin time |
OMIM:616483 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Hyperpigmentation of the skin, Anisocyt... |
ORPHA:79277 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp... |
ORPHA:100075 |
Opitz Gbbb Syndrome |
|
Hypospadias, Posteriorly rotated ears, Tracheomalacia, Cryptorchidism, Widow's peak, Stridor, Abn... |
ORPHA:2745 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Fontaine Progeroid Syndrome |
|
Synophrys, Low anterior hairline, Coarse hair, Conductive hearing impairment, Micropenis, Recurre... |
OMIM:612289 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Alobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Abnormal central motor function, Inability to walk, Sensorineural hearing impairme... |
ORPHA:220386 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Large for gestational age, Macrotia, Sensorineural hear... |
OMIM:617107 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Hypo... |
OMIM:614748 |
Joubert Syndrome 39 |
|
Pain insensitivity, Retinal dystrophy, Overweight, Hypopnea, Polycystic kidney dysplasia, Oculomo... |
OMIM:619562 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair |
OMIM:612132 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas... |
ORPHA:99827 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Myocarditis, Cervical l... |
ORPHA:2331 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Impaired pain sensation, Asthma, Recurrent upper respir... |
ORPHA:293987 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Recurrent skin infections, Palpebral edema, Impaired pain sensation, Hypoplastic... |
ORPHA:48652 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope... |
OMIM:619525 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Increased body weight, Renal tubular acidosis, Myoglobinuria, Anemia |
ORPHA:79240 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Giant cell hepatitis, Prolonged prothrombin time, Failure to thrive |
OMIM:214950 |
Familial Mediterranean Fever |
|
Pericarditis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis |
ORPHA:342 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Chorea, Intracranial hemorr... |
ORPHA:565 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Synophrys, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas, Hy... |
ORPHA:97297 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Polyhydramnios, Large for gestational age, Vesicoureteral reflux, Nephropat... |
ORPHA:116 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c... |
ORPHA:158000 |
Down Syndrome |
|
Brushfield spots, Pulmonary artery stenosis, Partial anomalous pulmonary venous return, Microtia,... |
OMIM:190685 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Penile hypospadias, Recurrent aspiration pneumonia |
ORPHA:73230 |
Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hypoplasia of the fovea, High... |
OMIM:619539 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Bilateral cryptorchidism, Asthma, Obesity, Astigmatism, Retinal vascula... |
OMIM:619471 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Behçet Disease |
|
Pericarditis, Anorexia, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal myocardium morpholo... |
ORPHA:117 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s... |
ORPHA:100078 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thr... |
ORPHA:509 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Hypoplastic fingernail, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100079 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Increased body weight |
ORPHA:64745 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Sclerocornea, Hydrops fetalis, Protruding ear, Absent fingernail, Aspiration pneu... |
OMIM:216340 |
Blau Syndrome |
|
Pericarditis, Hyperpigmentation of the skin, Splenomegaly, Lymphadenopathy, Abnormality of the li... |
ORPHA:90340 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,... |
ORPHA:790 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, Enlarged kidney |
OMIM:130650 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Alopecia, Aggressive behavior, Splenomegaly, Jaundice, Myocarditis, H... |
ORPHA:3385 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Cardiomegaly, Sparse eyebrow, Car... |
ORPHA:3472 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal... |
ORPHA:449563 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hemiplegia/hemiparesis, Lens coloboma, Seizure, R... |
ORPHA:42775 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy |
ORPHA:449432 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Chikungunya |
|
Cervical lymphadenopathy, Depigmentation/hyperpigmentation of skin, Lymphadenopathy |
ORPHA:324625 |
Carney Complex |
|
Macroorchidism, Elevated circulating growth hormone concentration, Testicular neoplasm, Ductal ca... |
ORPHA:1359 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Ony... |
OMIM:182250 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy |
ORPHA:79078 |