| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... |
OMIM:616050 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Abnormal metaphysis morphology, Bowing of the long bones, Abnormal ... |
ORPHA:436 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Chorioretinal coloboma, Lymphopenia, Bilateral single transverse palmar creases, Abnormal hair qu... |
ORPHA:1116 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cellulitis, Failure to thrive, Lymphocytosis, Thrombocytopenia, E... |
OMIM:617718 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Fai... |
OMIM:241500 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De... |
OMIM:615615 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... |
OMIM:241600 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Cutaneous abscess, Decreased proportion of CD8-positive T... |
OMIM:618204 |
| Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Vertebral compres... |
ORPHA:29073 |
| Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
| Alg12-Cdg |
|
Small nail, Recurrent hypoglycemia, Biventricular hypertrophy, Overlapping fingers, Micrognathia,... |
ORPHA:79324 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... |
OMIM:226990 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad middle phalanx of finger, Short distal phalanx of the thumb, Clinodactyly of the 2nd finger... |
ORPHA:221139 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... |
OMIM:619313 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Optic atrophy, Mandibular osteomyelitis, Joint dislocation, Abnor... |
ORPHA:53 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ... |
OMIM:617872 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, EEG with burst suppression, Hyperglycinemia, Partial atrioventricula... |
OMIM:620423 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... |
ORPHA:529799 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... |
ORPHA:1667 |
| Mirage Syndrome |
|
Rocker bottom foot, Scoliosis, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Overlappi... |
OMIM:617053 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, ... |
ORPHA:94093 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Abnormal hair morphology, Prominent floating ribs |
OMIM:152800 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Failure to thrive, Monocytosis |
OMIM:615592 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Recurrent otitis media, Osteomy... |
OMIM:619381 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... |
OMIM:613845 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Genu varum, ... |
ORPHA:289157 |
| Immunodeficiency 20 |
|
Recurrent otitis media, Reduced natural killer cell count |
OMIM:615707 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Talipes equin... |
OMIM:611209 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Chorioretinal hypopigmentation, Low posterior hairline, Epicanthus, Short neck, Atrial septal def... |
OMIM:617303 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
| Pelger-Huet Anomaly |
|
Giant platelets, Short 3rd metacarpal, Failure to thrive, Upper limb undergrowth, Recurrent otiti... |
OMIM:169400 |
| Hermansky-Pudlak Syndrome 2 |
|
Wide nasal bridge, Low-set ears, Reduced natural killer cell count, Carious teeth, Albinism, Enla... |
OMIM:608233 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Hypoglycemia, ... |
ORPHA:199299 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Recurr... |
OMIM:301000 |
| Rhabdoid Tumor |
|
Anemia, Weight loss, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Persistence of primary teeth, ... |
OMIM:619752 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Epicanthus, Short neck, Neutropenia, Abnormal bone ossifica... |
ORPHA:175 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Pericardial effusion, Hypocalcemia, Reduced proport... |
ORPHA:90362 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
| Oculoskeletodental Syndrome |
|
Wide nasal bridge, Hearing impairment, Short femoral neck, Elbow flexion contracture, Splenomegal... |
OMIM:618440 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Wide nasal bridge, Retrognathia, Lymphopenia, Leukopenia, Elevated circulating creatinine concent... |
OMIM:301110 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... |
ORPHA:3319 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Sensori... |
ORPHA:443811 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Cellulitis, Recurrent otitis media, Lymphop... |
OMIM:618986 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Immunodeficiency 48 |
|
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:269840 |
| Oculoskeletodental Syndrome |
|
Wide nasal bridge, Short 5th finger, Conductive hearing impairment, Clinodactyly, Hearing impairm... |
ORPHA:557003 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ... |
OMIM:209950 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... |
OMIM:619510 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... |
OMIM:617514 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:603553 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hearing impairment, Pancytopenia, Facial paralysis, Osteomyelitis, Hypocalcemia, A... |
OMIM:259700 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Bone cyst, Sensorineural hearing impairment, Anemia, Hypercalcemia |
ORPHA:2668 |
| Alg8-Cdg |
|
Low-set ears, Optic atrophy, Cataract, Failure to thrive, Abnormality of subcutaneous fat tissue,... |
ORPHA:79325 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... |
OMIM:609981 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... |
OMIM:618108 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Wide nasal bridge, Mandibular prognathia, Platelet anisocytosis, Horizontal eyebrow, Hearing impa... |
OMIM:620475 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Failure to thrive, Delayed eruption of teeth, Absent lacrimal punctum, Sensorineural he... |
ORPHA:2315 |
| Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Hearing impairment, Osteomalacia, Abnormal tibia morphology... |
ORPHA:249 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Low-set ears, Reduced natural killer cell count, Failure to thrive, Micrognathia, Epicanthus, T l... |
OMIM:242860 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic ner... |
ORPHA:83601 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Failure to th... |
OMIM:617585 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Low-set ears, Failure to thrive, Elevated circulating creatinine concentration, ... |
OMIM:608104 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... |
OMIM:617241 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... |
ORPHA:231226 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Amegakaryocytic throm... |
ORPHA:71289 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thromb... |
OMIM:603554 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Re... |
OMIM:612526 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl... |
ORPHA:169154 |
| Camurati-Engelmann Disease |
|
Carious teeth, Limitation of joint mobility, Hearing impairment, Abnormal tibia morphology, Slend... |
ORPHA:1328 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Hyponatremia, EEG abnormality, Neutrophilia, Elevated circulating C-reactive protei... |
ORPHA:1930 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, Decreased nerve... |
ORPHA:167 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva... |
ORPHA:247353 |
| Takenouchi-Kosaki Syndrome |
|
Low-set ears, Clinodactyly, Overlapping toe, Sensorineural hearing impairment, Sparse eyebrow, Do... |
OMIM:616737 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Carious teeth, Osteomalacia, Genu valgum, Micrognathia, Hypophosphatemia, Patellar d... |
ORPHA:534 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Fibrodysplasia Ossificans Progressiva |
|
Synostosis of joints, Abnormal vertebral morphology, Alopecia, Limitation of joint mobility, Hear... |
ORPHA:337 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Iron deficiency anemia, Hypothyroidism, Thrombocytosis, Anemia, Hypoproteinemia,... |
OMIM:226300 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Episodic hemolytic anemia, Increased blood urea nitro... |
ORPHA:251004 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Leukocytosis, Splenomegaly, Nail dystr... |
OMIM:615895 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Micrognathia,... |
OMIM:259720 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l... |
ORPHA:507 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Cataract, Mandibular prognathia, Foot joint contracture, Hearing impairment, Failu... |
ORPHA:90321 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... |
ORPHA:231111 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Alopecia, Chronic otitis media, Failure to thrive, Osteomyelitis, Hypocalcemia, Senso... |
ORPHA:47 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Joint hypermobility, Ara... |
OMIM:619013 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Sensorineural he... |
OMIM:617575 |
| Addison Disease |
|
Adrenal calcification, Weight loss, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insuffici... |
ORPHA:85138 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Lipodystrophy, Brachydac... |
OMIM:618048 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypog... |
ORPHA:293978 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating... |
ORPHA:95409 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... |
ORPHA:276 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Metaphyseal irregularity, Elevated circulating parathyroid hormone level, Failure ... |
OMIM:239200 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Abnormality of the vertebral column, Coxa valga |
OMIM:191420 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased ... |
OMIM:244460 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremi... |
ORPHA:391673 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Osteopenia, Low-set ears, Decreased response to growth hormone stimulation ... |
OMIM:614732 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Hearing impairment, Abnormal circulating porphyrin concentration, Hypo... |
ORPHA:100924 |
| Trichohepatoenteric Syndrome 1 |
|
Low-set ears, Ventricular septal defect, Curly hair, Brittle hair, Sparse hair, Downslanted palpe... |
OMIM:222470 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Wide nasal bridge, Low-set ears, Downslanted palpebral fissures, Hypertrichosis, Micrognathia, Sp... |
OMIM:235255 |
| Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Aplastic anemia, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving ... |
ORPHA:221016 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Progressive sensorineural hearing impairment, Enamel hypomineralization, Iron deficiency anemia, ... |
ORPHA:494444 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... |
OMIM:619868 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Epicanthus, Slanting of the palpebral fissure, Short nose, Eruption failure, Clinod... |
ORPHA:476126 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia |
OMIM:617056 |
| Rothmund-Thomson Syndrome |
|
Carious teeth, Aplastic anemia, Small nail, Alopecia totalis, Sparse eyelashes, Aplasia/Hypoplasi... |
ORPHA:2909 |
| Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Aplastic anemia, Alopecia totalis, Patellar aplasia, Calcinosis, Neutropenia, Leuk... |
ORPHA:221008 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Syndromic Diarrhea |
|
Wide nasal bridge, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Trichorrhexis nod... |
ORPHA:84064 |
| Infantile Myofibromatosis |
|
Chondrocalcinosis, Limitation of joint mobility, Abnormal hair morphology, Hypercalcemia, Bone cy... |
ORPHA:2591 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:158061 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... |
OMIM:313900 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
| Alpha-Heavy Chain Disease |
|
Anemia, Alopecia, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, Leukocytosis, Absc... |
ORPHA:810 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:604250 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Hyponatremia, Myocarditis, En... |
ORPHA:549 |
| Cholesteryl Ester Storage Disease |
|
Failure to thrive, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatosplenome... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Downslanted palpebral fissures, Hepatosplenomegaly, Increased LDL cholesterol concentration, Sple... |
OMIM:616828 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Low-set ears, Kyphosis, Failure to thrive, Hypocholesterolemia, Splenomegaly, Sh... |
OMIM:608776 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Secundum atrial septal defect, Decreased proportion... |
OMIM:611926 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Trem... |
ORPHA:3008 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Thick hair |
ORPHA:263501 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine... |
OMIM:155100 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Recurrent otitis media, ... |
OMIM:243700 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme... |
ORPHA:3269 |
| Leptospirosis |
|
Chorioretinitis, Conjunctival hyperemia, Papilledema, Thrombocytopenia, Hyperproteinemia, Pericar... |
ORPHA:509 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Abnormality of the spleen, Abnormal antihelix morphology, Congenital diap... |
ORPHA:2162 |
| Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Failure to thrive, Splenomegaly, Hypocalcemia, Reduced bone mineral ... |
ORPHA:172 |
| Acrodysostosis |
|
Hearing impairment, Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abnorma... |
ORPHA:950 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia |
ORPHA:90060 |
| Temple Syndrome |
|
Precocious puberty, Small hand, Scoliosis, Maturity-onset diabetes of the young, Clinodactyly, Re... |
OMIM:616222 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Hernia, Epicanthus, Short neck, Atrial septal defect, Short nose, Abnormal he... |
ORPHA:505248 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hearing impairment, Micrognathi... |
ORPHA:84 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, R... |
OMIM:615631 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti... |
ORPHA:254531 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Metaphyseal cupping, Hearing impairment, Pathologic fracture, Micrognathia, Hip contr... |
OMIM:156400 |
| Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormal nerve conduction velocity, Mandibular prognathia, Abnormal forearm mo... |
OMIM:182290 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Hypertrichosis, Abnormal circulating porphyrin concentra... |
ORPHA:79473 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... |
OMIM:616860 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hypera... |
ORPHA:292 |
| Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicula... |
OMIM:250250 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Insulin-resistant diabetes mellitus, Delayed cranial... |
ORPHA:2457 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... |
ORPHA:2070 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment, Fractures of the long bones, Hydroxyprolinuria, Sandwich... |
OMIM:602080 |
| Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hypoglycemia, Hepatospl... |
ORPHA:79237 |
| Japanese Encephalitis |
|
Genu recurvatum, Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Pi... |
ORPHA:79139 |
| Liver Disease, Severe Congenital |
|
Dry hair, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubinemia, Micro... |
OMIM:619991 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Downslanted palpebral fissures, Hypertrichosis, Hepatosplenomegaly, Micrognathia, S... |
ORPHA:1655 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Nail dystrophy, B l... |
OMIM:620133 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Micrognathia, Atrial septal defect,... |
ORPHA:369837 |
| Poland Syndrome |
|
Acute leukemia, Small hand, Finger syndactyly, Congenital diaphragmatic hernia, Low posterior hai... |
ORPHA:2911 |
| Sarcoidosis |
|
Weight loss, Dacryocystitis, Cataract, Alopecia, Increased T cell count, Hypothyroidism, Hyperthy... |
ORPHA:797 |
| Myh9-Related Disease |
|
Giant platelets, Presenile cataracts, Sensorineural hearing impairment, Congenital thrombocytopen... |
ORPHA:182050 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Increased... |
OMIM:248370 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Clinodactyly, Hearing impairment, Overlapping toe, Sparse eyebrow, Downslanted palpebral fissures... |
ORPHA:487796 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimmune thrombocytopenia, Alopecia, F... |
ORPHA:37042 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Secondary hyperparathyroidism,... |
OMIM:264700 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Recurrent otitis media... |
OMIM:620430 |
| Whipple Disease |
|
Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, Arthritis, Myocarditis,... |
ORPHA:3452 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:620366 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Low posterior hairline, Ost... |
ORPHA:2959 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Bilateral ptosis, Elevated circulating creatinine concentration... |
ORPHA:230 |
| Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Micrognathia, Sensorineural hearing impairment, Epicanthus, Genu varum, Osteopenia,... |
ORPHA:2479 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune h... |
ORPHA:911 |
| Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivit... |
ORPHA:79277 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Recurrent otitis media, Splenomegaly, Otitis... |
OMIM:608971 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hyper... |
ORPHA:90065 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Failure to thrive, Retrognathia, Micrognathia, Anisocytosis, Camptodactyly, Flexio... |
OMIM:604273 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Delayed eruption of primary teeth, Chronic otitis media, Short nose... |
ORPHA:819 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Webb-Dattani Syndrome |
|
Retrognathia, Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic... |
OMIM:615926 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Type I diabetes mellitus, Small for gestational ag... |
ORPHA:275555 |
| Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Mandibular prognathia, Precocious puberty in females, Failure to thrive, Hype... |
ORPHA:528 |
| Avian Influenza |
|
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... |
ORPHA:454836 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Selective Igm Deficiency |
|
Cellulitis, Decreased proportion of transitional B cells, Rheumatoid arthritis, Cutaneous abscess... |
ORPHA:331235 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Hypokalemia, Nail dysplasia, Ca... |
OMIM:175500 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, A... |
ORPHA:470 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... |
OMIM:260400 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Micrognathia, Mitral valve pr... |
ORPHA:193 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Ménétrier Disease |
|
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... |
ORPHA:3104 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hearing impairment, Generalized hirsutism, Lymphocytosis, Lipoatrophy |
ORPHA:79087 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... |
OMIM:615751 |
| Monosomy 13Q34 |
|
Insulin resistance, Postaxial foot polydactyly, Horizontal eyebrow, Abnormal earlobe morphology, ... |
ORPHA:96168 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Cataract, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy |
OMIM:618805 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hypoglycemia, Cardiomyopathy, Splenomegaly, Elevated circulating creatine kina... |
ORPHA:264580 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Specific Granule Deficiency 2 |
|
Low-set ears, Osteopenia, Sandal gap, Failure to thrive, Recurrent otitis media, Hirsutism, Simpl... |
OMIM:617475 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Small nail, Overlapping fingers, Ve... |
OMIM:301056 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Multiple muscular ventricular septa... |
OMIM:615508 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Bow... |
ORPHA:89937 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Downslanted palpebral fissures, Increased size of the mandible, Thrombocytopenia, I... |
OMIM:300048 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Low-set ears, Small hand, Hypotriglyceridemia, Conductive hearing impairment, Sandal gap, Downsla... |
OMIM:618885 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Cohen Syndrome |
|
Genu valgum, Micrognathia, Mitral valve prolapse, Narrow palm, Neutropenia, Short metacarpal, Hyp... |
OMIM:216550 |
| Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, Arthritis, ... |
OMIM:601457 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Williams Syndrome |
|
Synostosis of joints, Carious teeth, Megalocornea, Genu valgum, Type II diabetes mellitus, Microg... |
ORPHA:904 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Alopecia, Rickets, Failure to thrive, Hypocalcemia, Macrocytic anemia, ... |
OMIM:212750 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Kyphosis, Failure to thrive, Cardiomyopathy, Hypocholesterolemia, Al... |
OMIM:212065 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... |
ORPHA:89842 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Enlargement of th... |
OMIM:600081 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st... |
ORPHA:1263 |
| Laron Syndrome |
|
Short toe, Hypoglycemia, Delayed eruption of teeth, Micrognathia, Hypercholesterolemia, Brachydac... |
ORPHA:633 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Osteomyeli... |
ORPHA:36234 |
| Pituitary Apoplexy |
|
Mydriasis, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased circu... |
ORPHA:95613 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Carious teeth, Failure to thrive, Hypoglycemia, Xanthelasma, H... |
ORPHA:79259 |
| Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Oste... |
OMIM:606069 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Increas... |
ORPHA:79240 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hearing impairment, Small nail, Persistence of hemoglobin F, Pancytopenia, Micro... |
OMIM:617052 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... |
ORPHA:64743 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... |
ORPHA:231214 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno... |
ORPHA:231222 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Spars... |
ORPHA:91355 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... |
OMIM:619644 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Alopecia, Abnormal adipose tissue morphology, Coarse metaphyseal trabeculari... |
ORPHA:93160 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Low-set ears, Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Blepharophim... |
OMIM:620005 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Hypogonadotrop... |
ORPHA:848 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... |
OMIM:615617 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:540 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Microcornea, Small for gestational age, Tiger tail banding, Slow-growin... |
OMIM:616943 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Cataract, Hearing impairment, Delayed eruption of teeth, Rhizomelic ... |
ORPHA:508542 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph... |
ORPHA:99826 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Weight loss, Anemia, Osteoporosis, Osteolysis |
ORPHA:100024 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Wide nasal bridge, Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Short toe, Downslanted pal... |
ORPHA:98791 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Optic disc pa... |
OMIM:616959 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Cataract, Hypoplasia of the ma... |
OMIM:620157 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Wide nasal bridge, Low-set ears, Abnormal natural killer cell morphology, Overlapping fingers, Se... |
OMIM:615966 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... |
OMIM:274000 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, Decreased motor nerve conduction velocity, Hypothyroidism, B lymphocytopenia, Flexion c... |
OMIM:619851 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T ce... |
OMIM:613501 |
| Hennekam Syndrome |
|
Wide nasal bridge, Low-set ears, Conductive hearing impairment, Finger syndactyly, Delayed erupti... |
ORPHA:2136 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... |
ORPHA:14 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthe... |
ORPHA:275761 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... |
OMIM:617519 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Colchicine Poisoning |
|
Alopecia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia... |
ORPHA:31824 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Renal Hypoplasia, Bilateral |
|
Glycosuria, Failure to thrive, Astigmatism, Hyponatremia, Anemia, Hyperkalemia, Small for gestati... |
ORPHA:97362 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Interictal EEG abnormality, Sideroblastic anemia, Pappenheimer bodies, Eryth... |
OMIM:301310 |
| Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Hearing impairment, Abnormal joint morphology, Hypopituitarism, P... |
ORPHA:811 |
| Neuhauser Syndrome |
|
Wide nasal bridge, Osteopenia, Genu recurvatum, Cupped ear, Downslanted palpebral fissures, Large... |
OMIM:249310 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Small hand, Cervical kyphosis, Dilated cardiomyopathy, Type II diabetes me... |
ORPHA:401923 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti... |
ORPHA:96184 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Failure to thrive, Prominent stem of antihelix, Pancytopenia, Spl... |
OMIM:619824 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Conjunctival icterus, Glycosuria, Pancytopenia, Leukope... |
ORPHA:447 |
| Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni... |
OMIM:242900 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Schimke Immuno-Osseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Short neck, Neutropenia, Ovoid vertebral bodies, Abnormal... |
ORPHA:1830 |
| Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
| Glucagonoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97280 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Recurrent otitis media, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hepatosplenomegaly, Pericardial effusion, Chor... |
OMIM:619487 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr... |
ORPHA:486 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
| Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Cranial nerve compression, Tremor, Weight loss, Paraganglioma of h... |
ORPHA:94080 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Hearing impairment, Delayed eruption of teeth, Optic nerve compres... |
ORPHA:667 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Adrenal cortical sclerosis, Abnormal pelvic girdle bone morphology, Growth arrest ... |
OMIM:102700 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Small nail, Hip contracture, Ventricular septa... |
ORPHA:821 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi... |
OMIM:619073 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Action tremor, Hyperuricemia, Hirsutism, Hypothyroidis... |
ORPHA:77296 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Genu valgum, Hypophosphatemia, Weight loss, Aminoa... |
OMIM:219800 |
| Alg6-Cdg |
|
Hypoalbuminemia, Low-set ears, Increased circulating androgen concentration, Failure to thrive, P... |
ORPHA:79320 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy |
OMIM:618806 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Hypogonadism, Obesity, Mitral valve prolapse, Abnormal morphology... |
ORPHA:2233 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Hearing impairment, Lymphopenia, Hepatosplenomegaly, Sensorineural hea... |
OMIM:612541 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... |
ORPHA:94086 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia |
ORPHA:35710 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregat... |
OMIM:617443 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Recu... |
OMIM:615607 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Reduction of neutrophil motility, Recurrent otitis media, Brachydactyly, Neutrophilia... |
OMIM:266265 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Rheumatoid arthritis, Finger swelling, Abnormal circulat... |
ORPHA:206572 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Decreased proportion of cla... |
OMIM:613493 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| 2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphol... |
ORPHA:251014 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Hearing impairment, Hip contracture, Hernia, Epicanthus, Talipes e... |
OMIM:193700 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Micrognathia, Tremor, Single transverse palmar crease, Hypsarrhythmia, Clinodactyly of ... |
OMIM:608093 |
| Prader-Willi Syndrome |
|
Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus... |
OMIM:176270 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Weight... |
ORPHA:67 |
| Propionic Acidemia |
|
Hyperglycinuria, Failure to thrive, Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, ... |
OMIM:606054 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Pituitary resistance to thyroid hormone, Hyperphosphatemia, Delayed eruption of teeth, ... |
ORPHA:94089 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
ORPHA:331206 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Failure to thrive, Hypernatremia |
OMIM:304800 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ... |
OMIM:618278 |
| Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Aniridia, Hypocalcemia, Decre... |
OMIM:602361 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Hypoparat... |
OMIM:127000 |
| Mogs-Cdg |
|
Optic atrophy, Short palpebral fissure, Alopecia, Retrognathia, Fair hair, Long eyelashes, Hepato... |
ORPHA:79330 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Osteopenia, Congenital hip dislocation, Optic atrophy, Cataract, Aminoacidu... |
OMIM:617913 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Cellulitis, Splenomegaly, Decreased proportion of class-switched memory B cells, Increased propor... |
OMIM:615513 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Sensorineural h... |
OMIM:300972 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen... |
ORPHA:465508 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Alope... |
OMIM:606367 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hypomineralization, Hypopho... |
OMIM:307800 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Myocarditis, Septic ar... |
ORPHA:544482 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Hearing impairment, Elevated circulating gamma-aminobutyric acid conc... |
OMIM:619658 |
| Wilson Disease |
|
Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Hypoparathy... |
OMIM:277900 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Recurrent otitis media, Splenomegaly, Decreased proportion of class-switch... |
OMIM:607594 |
| Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hyperphosphatemia, Delayed eruption of teeth, Elevated circulating parathyroid hormone ... |
OMIM:612462 |
| Léri-Weill Dyschondrosteosis |
|
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Cardiomyopathy, Hyperammonemia, Splenomegaly, Thrombocytopenia,... |
ORPHA:79312 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic... |
OMIM:617780 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Uveitis, Failure to thrive, Recurrent otitis media, Pancytopenia, Splen... |
OMIM:614700 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Bone marrow hypocellularity, Conductive hearing impairment, Failure to thrive, Ret... |
ORPHA:2785 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism |
OMIM:617343 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Hypocalcemic tetany, Hypoca... |
ORPHA:93324 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer... |
OMIM:144300 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Abnormal circulating creatine kinase concentration, Hypercholester... |
ORPHA:488650 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... |
ORPHA:247598 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Low back ... |
ORPHA:49041 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Small for gestational age, Short tibia, Hypoglycemia, Sandal gap, Failure to thrive, ... |
OMIM:607143 |
| Lead Poisoning |
|
Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Decreased circu... |
ORPHA:330015 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Acute... |
ORPHA:35078 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Failure to ... |
ORPHA:1617 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Failure to thrive, Recurrent otitis media, Lymphopenia, Impaired lym... |
OMIM:600802 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short 5th finger, Toe clinodactyly, Aplasia/Hypoplasia of the nails, Downslanted palpebral fissur... |
ORPHA:163979 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... |
OMIM:618534 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Clinodactyly, Hearing impairment, Failure to thrive, Pancytope... |
ORPHA:2169 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating CCL18 level, Osteopenia, Sp... |
ORPHA:77259 |
| Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... |
OMIM:147750 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Midclavicular hypoplasia, Low-set ears, Broad thumb, Subcutaneous lipoma, Downsl... |
ORPHA:79076 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Talipes equinovar... |
OMIM:601382 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... |
ORPHA:97289 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Pearson Syndrome |
|
Hearing impairment, Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic ... |
ORPHA:699 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... |
OMIM:300853 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... |
OMIM:618459 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Hypophosphatemia, ... |
ORPHA:99879 |
| Immunodeficiency 68 |
|
Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Low-set ears, Retrognathia, Epicanthus, B lymphocytopenia, Short nose |
OMIM:614069 |
| Osteogenesis Imperfecta |
|
Thin ribs, Carious teeth, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedic... |
ORPHA:666 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... |
OMIM:620085 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Cataract, Dilated cardiomyopathy, Clinodactyly, Abnormal circulating lipid co... |
OMIM:616541 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Failure to thrive, Recurrent otitis media, Hypopituitarism, Nail dystrophy, Increased... |
ORPHA:98813 |
| Foxp1 Syndrome |
|
Hypoplastic helices, Decreased circulating iron concentration, Mandibular prognathia, Clinodactyl... |
ORPHA:391372 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
| 22Q11.2 Deletion Syndrome |
|
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Ventricular septal defect, Arachno... |
ORPHA:567 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Failure to thrive in infancy, Hepatosplenomegaly, Pancyto... |
ORPHA:79124 |
| Immunodeficiency 13 |
|
Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv... |
OMIM:615518 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... |
ORPHA:3240 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Cardiomyopathy, Elevated circulating creatinine concentration, Avascular necro... |
ORPHA:247691 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Ven... |
ORPHA:124 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Craniofacial osteosclerosis, Abnormal epiphysis morphology, Osteom... |
ORPHA:324964 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Fibular bowing, Epicanthus, H... |
OMIM:277440 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ob... |
ORPHA:26793 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Increased intervertebral... |
OMIM:607944 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Ventricular septal def... |
OMIM:105650 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Low posterior hairline, Epicanthus, Short neck, Atrial septal defect, Brittle hair, ... |
ORPHA:1340 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Abnormal hair morphology, Lymphopenia, Glucose intolerance, Decreased proporti... |
OMIM:208900 |
| Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia |
ORPHA:223 |
| Activated Pi3K-Delta Syndrome |
|
Hearing impairment, Failure to thrive, Recurrent otitis media, Splenomegaly, Arthritis, B lymphoc... |
ORPHA:397596 |
| Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Weight loss, Hypercalcemia, Failure to thrive |
OMIM:143880 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, Osteopenia, Failure to thrive, Hypoglycemia, Retrognathia, Kyphoscoliosis, Hir... |
OMIM:618005 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Failure to thrive, Elevated circulating propionylcarnitine concentration, Microgn... |
OMIM:614857 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Genu valgum, Metaphyseal enchondromatosis, Gener... |
ORPHA:85198 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,... |
OMIM:600501 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Low-set ears, Cataract, Tapered toe, Elevated circulating creatinine concentration, Knee flexion ... |
OMIM:608836 |
| Ring Chromosome 10 Syndrome |
|
Wide nasal bridge, Low-set ears, Sandal gap, Downslanted palpebral fissures, Large earlobe, Micro... |
ORPHA:1438 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Hypoglycemia, Slender build, Pancytopeni... |
OMIM:613658 |
| Charge Syndrome |
|
Low-set ears, Lymphopenia, Micrognathia, Sensorineural hearing impairment, Ventricular septal def... |
OMIM:214800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hypoglycemia, Hyperammonemia, Craniofacial dystonia, Neutropenia, Sparse hair, Sma... |
OMIM:618253 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia |
OMIM:607250 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Low-set ears, Limitation of joint mobility, Radial bowing, Abnormal earlobe morphology, Hypoplast... |
ORPHA:93307 |
| Hemochromatosis, Type 2B |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:613313 |
| Hartsfield Syndrome |
|
Low-set ears, Hypoplasia of the frontal bone, Ectrodactyly, Gonadotropin deficiency, Epicanthus, ... |
OMIM:615465 |
| Immunodeficiency 9 |
|
Failure to thrive, Lymphopenia, Hypoplasia of the thymus, Amelogenesis imperfecta, Abnormal natur... |
OMIM:612782 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Conjunctivitis, Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Failure to thrive, Hypoglycemia, Hearing impairment, Cardiomyopa... |
ORPHA:67048 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... |
OMIM:301078 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, H... |
OMIM:617591 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Sensorineural hearing impairment, Short neck, Calcinosis, Short metacarpal, Ch... |
ORPHA:79443 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact... |
ORPHA:2633 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia, Failure to thrive |
OMIM:616963 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia,... |
ORPHA:2710 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Ptosis, Increased blood urea nitrogen, Brachydactyly, Orthos... |
OMIM:223360 |
| Immunodeficiency 70 |
|
Palmar warts, Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Myopathy, Tubular Aggregate, 2 |
|
Spinal rigidity, Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase co... |
OMIM:615883 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Wide nasal bridge, Cataract, Rhizomelia, Short iliac bones, Supernumerary nipple, Elevated circul... |
OMIM:614376 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... |
ORPHA:247585 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Cockayne Syndrome B |
|
Carious teeth, Square pelvis bone, Limitation of joint mobility, Dry hair, Abnormal hair morpholo... |
OMIM:133540 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Alopecia, Palmoplantar keratoderma, Failure to thrive, Atrophic scars, Nail dyst... |
ORPHA:79396 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Short palpebral fissure, Natal tooth, Umbil... |
OMIM:617237 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... |
OMIM:607676 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Aortic valve stenosis, Hearing impairment, Micrognathia, Decreased skull ossificati... |
ORPHA:955 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Low-set, posteriorly rotated ears, Hypogonadism, Long eyelashes,... |
ORPHA:163693 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Lymphopenia, Pancytopenia, Underde... |
OMIM:620654 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count |
OMIM:613496 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis |
ORPHA:289916 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Upslanted palpebral fissure, Sensorineural hearing impairment, Epicanthus, Ptosis,... |
OMIM:620086 |
| Williams-Beuren Syndrome |
|
Small nail, Premature graying of hair, Recurrent otitis media, Mitral valve prolapse, Sensorineur... |
OMIM:194050 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Carious teeth, Palmoplantar keratoderma, Sparse lateral eyebrow, Retrognathia, Re... |
OMIM:604173 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Failure to thrive, Persi... |
OMIM:612561 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol... |
ORPHA:2307 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Rabin-Pappas Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Short palpebral fissure, Cataract, Conductive hearing i... |
OMIM:620155 |
| Martsolf Syndrome 1 |
|
Low-set ears, Micrognathia, Abnormal toenail morphology, Low posterior hairline, Epicanthus, Tali... |
OMIM:212720 |
| Down Syndrome |
|
Keratoconus, Atlantoaxial dislocation, Type II diabetes mellitus, Bilateral single transverse pal... |
ORPHA:870 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger... |
OMIM:235510 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, ... |
OMIM:251880 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Generalized lipodystrophy, H... |
OMIM:608612 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Micrognat... |
OMIM:619503 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Chronic otitis media, B lymphocytopenia |
ORPHA:217390 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel... |
ORPHA:572 |
| Hereditary Coproporphyria |
|
Proximal muscle weakness in upper limbs, Atypical scarring of skin, Facial hirsutism, Long hairs ... |
ORPHA:79273 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased body weight, Ep... |
OMIM:618347 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia, EEG with burst suppression, Abnormal circulating arginine concen... |
ORPHA:79096 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Overlapping fingers, Sensorineural hearing impairment, Radioulnar synostosis,... |
OMIM:616738 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hypoglycemia, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Thr... |
OMIM:251000 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Hyperuricemia |
ORPHA:543 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Elevat... |
ORPHA:36238 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Sensori... |
OMIM:605432 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, Sc... |
ORPHA:2905 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Postural hypotension... |
ORPHA:85443 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Low-set ears, Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Overlapp... |
ORPHA:83617 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Micrognathia, Knee contracture, Hip contracture, Irregular vertebral endplates, Osteopenia, Catar... |
OMIM:222765 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ... |
OMIM:127300 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal fingern... |
ORPHA:1275 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... |
ORPHA:71275 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Short neck, Calcinosis, Short metacarpal, Cataract, Broad distal phalanx of th... |
ORPHA:79444 |
| Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... |
ORPHA:971 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Failure to thrive in infancy, Osteomyelitis, Broad ribs, Splenomegaly, A... |
OMIM:612852 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Joint swelling, Increased proportion of CD4-positive ... |
OMIM:617099 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Optic atrophy, Platyspondyly, Erlenmeyer flask deformity of the femurs,... |
OMIM:618476 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... |
OMIM:208920 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Congenital hypothyroidism, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Cockayne Syndrome A |
|
Carious teeth, Square pelvis bone, Limitation of joint mobility, Dry hair, Hypoplastic iliac wing... |
OMIM:216400 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... |
OMIM:271510 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cataract, Small for gestational age, Failure to thrive, Downslanted palpebral fissures, Hypertrop... |
OMIM:615471 |
| Hyperparathyroidism 1 |
|
Hypercalcemia, Primary hyperparathyroidism |
OMIM:145000 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Optic atrophy, Sandal gap, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone, Fine hair,... |
OMIM:614800 |
| Trichothiodystrophy |
|
Carious teeth, Ventricular septal defect, Epicanthus, Neutropenia, Brittle hair, Bilateral sensor... |
ORPHA:33364 |
| Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Rhizomelia, Hypoglycemia, Downslanted palpebral fissures, Umbilic... |
OMIM:616638 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Aceruloplasminemia |
|
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... |
OMIM:604290 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym... |
ORPHA:90363 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Epicanthus, Microcoria, ... |
ORPHA:93357 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Elevated circulating creatinine concentration, Hepatosplenomegaly, Weight loss, Dec... |
ORPHA:85450 |
| Diarrhea 13 |
|
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia |
OMIM:620357 |
| Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Trichiasis, Peters anomaly, Clinodactyly, Failure to thrive, Sacral dimple... |
OMIM:618460 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Hyperphosphatemia, Delayed cranial suture closure, Hypocalcemic tetany, Persistenc... |
ORPHA:93325 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single ... |
OMIM:618348 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Elevated circulating parathyroid ... |
OMIM:618618 |
| Posttransplant Acute Limbic Encephalitis |
|
EEG with abnormally slow frequencies, Hyponatremia, Abnormal autonomic nervous system physiology,... |
ORPHA:163921 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... |
OMIM:613752 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Elevated circulating creatinine concentration, Left ventricular hypertrophy, ... |
OMIM:616733 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Long eyelashes, Hypocal... |
OMIM:606407 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr... |
ORPHA:829 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Hepatosplenomegal... |
OMIM:607014 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Low-set ears, Cupped ear, Retrognathia, Downslanted palpebral fissures, Persistence of hemoglobin... |
OMIM:617101 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Limb dystonia, Methemoglobinemia, Athetosis, Abnormality of the nail |
ORPHA:621 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Conductive hearing impairment, Cranial nerve compression, Aniridia,... |
ORPHA:29072 |
| 1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology, Small nail, Upslanted palpebral fissure, Congenital diaphragmatic he... |
ORPHA:250999 |
| Vici Syndrome |
|
Low-set ears, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive helper T cells, Sen... |
OMIM:242840 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Fair h... |
OMIM:302060 |
| Livedoid Vasculopathy |
|
Graves disease, Polycythemia, Abnormal circulating lipid concentration, Atrophic scars, Pancytope... |
ORPHA:542643 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... |
OMIM:300946 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Clinodactyly, Micrognathia, Partial duplication of thumb... |
OMIM:616730 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Ectopia pupillae, Epicanthus, Aplasia of the thymus, Short neck, Atrial septal defe... |
OMIM:618223 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Alopecia, Cardiomyopathy, Increased circulating ferriti... |
OMIM:235200 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Cataract, Hypo... |
OMIM:618150 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Cranial nerve compression, Tremor, Weight loss, Adrenal pheochromo... |
ORPHA:276621 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Taurodontia, Conjunctival whitish salt-like... |
OMIM:211900 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia,... |
ORPHA:79477 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Acromesomelic Dysplasia 4 |
|
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, ... |
OMIM:619636 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Kawasaki Disease |
|
Hypoalbuminemia, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventr... |
ORPHA:2331 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Otitis media, B lymphocytopenia |
ORPHA:70593 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Low-set ears, Natal tooth... |
ORPHA:313855 |
| Cranioectodermal Dysplasia 1 |
|
Low-set ears, Clinodactyly, Epicanthus, Bicuspid aortic valve, Broad distal phalanges of all fing... |
OMIM:218330 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we... |
ORPHA:340 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Bone marrow hypocellularity, Absent thumb, Unilateral radial aplasia, Atresia of ... |
OMIM:614900 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... |
OMIM:270400 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Mannosidosis, Alpha B, Lysosomal |
|
Thoracolumbar kyphosis, Hypertrichosis, Thick eyebrow, Femoral bowing, Splenomegaly, Increased ve... |
OMIM:248500 |
| Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, M... |
OMIM:603585 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Low-set ears, Optic atrophy, Secundum atrial septal defect, Hypoglycemia, Hyponatremia, Prominent... |
OMIM:608688 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine ... |
OMIM:251110 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thy... |
ORPHA:83471 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Low-set ears, Homocystinuria, Cystathioninemia, Failure to thrive, Cystathioninuria, Elevated cir... |
OMIM:277380 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyroid adenoma, Hy... |
OMIM:145001 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Synovitis, Elevated circulating creatinine concentration, Arthritis |
ORPHA:567544 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Bicuspid aortic valve, Atrial sep... |
OMIM:617744 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Sensorineural hearing impairment, Ventricular septal defect, Epicanth... |
OMIM:301040 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Failure to thrive |
OMIM:239199 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Alg1-Cdg |
|
Hypoalbuminemia, Limitation of joint mobility, Cardiomyopathy, Abnormal heart morphology, Scolios... |
ORPHA:79327 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Absent circulating B cells, Decreased proportion of class-switched m... |
OMIM:619705 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Abnormal vertebral morphology, Aortic valve stenosis, Sparse scalp hair, Hearing im... |
ORPHA:536471 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Metacarpal periost... |
OMIM:617994 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... |
ORPHA:90791 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive, Hepatosplenomegaly, Abnormal cardiomy... |
ORPHA:367 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing im... |
ORPHA:3226 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Sensorineural hearing impai... |
OMIM:203800 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Central hypothyroidism, Progressive... |
ORPHA:514 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Recurrent otitis media, Overlapping toe, Neutrophilia, Long eyelashes, Low ant... |
ORPHA:99843 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Cutaneous abscess, Increased circulating ferritin conce... |
ORPHA:101330 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hyperphosphatemia, Short toe, Delayed eruption of teeth, Short finger, Elevated circula... |
OMIM:103580 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... |
ORPHA:361 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Failure to thrive, Hypokalemia, Anemia, Clubbing |
OMIM:174900 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,... |
OMIM:601005 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Postural tremor, Action tremor, Thrombocytopenia, Intention tremor, Normochromic... |
OMIM:254900 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, ... |
ORPHA:54251 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Fine hair, White hair, Lymphopenia, Abnormal metaphysis morphology, Inguinal hernia, Aganglionic ... |
ORPHA:935 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Small hand, Obesity, Narrow palm, Hypogonadotropic hypogonadism, Hypopigme... |
ORPHA:177910 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... |
ORPHA:91354 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Graves disease, Glucose intolerance, Hypocalcemia... |
ORPHA:358 |
| Immunodeficiency 92 |
|
Osteomyelitis, Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switche... |
OMIM:619652 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Alopecia of... |
OMIM:602450 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Low-set, posteriorly rotated ears, Abnormal... |
ORPHA:2323 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Abnormal circulating calcium c... |
OMIM:241530 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia |
OMIM:620443 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Tricuspid stenosis, Elbow dislocation, Hearing im... |
OMIM:143095 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... |
ORPHA:2639 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Abnorm... |
ORPHA:90674 |
| Psoriasis 14, Pustular |
|
Polyarticular arthritis, Leukocytosis, Nail dystrophy, Oligoarthritis, Neutrophilia, Elevated cir... |
OMIM:614204 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Enamel hypoplasia, Hearing impairment |
OMIM:618349 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia |
OMIM:240200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... |
OMIM:610600 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Patchy osteosclerosis, Small hand, Decreased circulating parathyroid hormone level,... |
OMIM:241410 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Alopecia, Failure to thrive, Decreased FOXP3-expressing T cell count, E... |
OMIM:304790 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Abnormal auditory evoked potentials, Os odontoideum, Irregular epiphyses, Biconcave ver... |
OMIM:619260 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevat... |
OMIM:620501 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegal... |
OMIM:618838 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormally prominent line of Schw... |
OMIM:109120 |
| Nijmegen Breakage Syndrome |
|
Sandal gap, Recurrent otitis media, Micrognathia, Autoimmune hemolytic anemia, Upslanted palpebra... |
OMIM:251260 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Immunodeficiency 10 |
|
Hypoglycemia, Hypoplasia of the iris, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic ... |
OMIM:612783 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Sweet Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Abnormality of the hand, Acute ... |
ORPHA:3243 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, H... |
OMIM:615234 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
| Congenital Syphilis |
|
Periostitis, Optic atrophy, Cataract, Keratitis, Hearing impairment, Hypoglycemia, Extramedullary... |
ORPHA:499009 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rachitic rosary, Rickets, Elevated circulating parathyroid hormone level, Hy... |
OMIM:612089 |
| Juvenile Polyposis Syndrome |
|
Low-set ears, Rectocele, Brain abscess, Failure to thrive, Downslanted palpebral fissures, Multip... |
ORPHA:2929 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Bowing of the ... |
OMIM:615605 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Central serous chorioretinopathy, Lipodystrophy |
ORPHA:329918 |
| Aceruloplasminemia |
|
Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra... |
ORPHA:48818 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Hypercalcem... |
OMIM:600740 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Sparse scalp hair, Radial bowing, Hypoplastic iliac wing, ... |
OMIM:210720 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Low-set ears, Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concent... |
OMIM:201750 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocyt... |
ORPHA:134 |
| Enterokinase Deficiency |
|
Hypoproteinemia, Failure to thrive |
OMIM:226200 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Glycosuria, Failure to... |
ORPHA:411634 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Hand clenching, Joint contracture of the hand, Slender finger, Low-set ears, Opt... |
OMIM:251300 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Conductive... |
ORPHA:1307 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldostero... |
ORPHA:556030 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Increased mean corpuscular volume, Short thumb, Hearing im... |
OMIM:612562 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
| Leigh Syndrome |
|
Sensorineural hearing impairment, Ventricular septal defect, Hypsarrhythmia, Neutropenia, Choreoa... |
ORPHA:506 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy,... |
OMIM:619127 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteopenia, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Hearing impairment, Fine hair... |
OMIM:613990 |
| 46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Micrognathia, Upslanted pa... |
OMIM:154230 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F... |
ORPHA:289548 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Short palpebral fissure, Secundum atrial septal defect, Failure to thrive, Hypoglyc... |
OMIM:608779 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Decreased circulating aldostero... |
ORPHA:556037 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, F... |
ORPHA:168558 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... |
ORPHA:682 |
| Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal fem... |
ORPHA:352540 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Cardio... |
OMIM:620376 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Keratoconus, Sparse hair, Alopecia, Palmoplantar keratoderma, Failure to thrive,... |
OMIM:242150 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Dend Syndrome |
|
Bilateral ptosis, Hyperglycemia, Clinodactyly of the 4th finger, Hypsarrhythmia, Thickened ears, ... |
ORPHA:79134 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... |
OMIM:131100 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Prolidase Deficiency |
|
Carious teeth, Palmoplantar keratoderma, Hearing impairment, Hypoplasia of the zygomatic bone, Ab... |
ORPHA:742 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Decreased sku... |
ORPHA:1452 |
| Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Ventricular... |
OMIM:188400 |
| Chime Syndrome |
|
Acute leukemia, Hearing impairment, Ventricular septal defect, Epicanthus, Sparse hair, Short foo... |
ORPHA:3474 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Abnormality of the thyroi... |
ORPHA:186 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:913 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th... |
OMIM:231095 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:151660 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Abnormal rib morphology, Micrognathia, Upslanted palpebral fissure, Tibial bowing,... |
ORPHA:3035 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Wide nasal bridge, Short distal phalanx of finger, Cataract, Telecanthus, Hypocalcemia, Mitral va... |
ORPHA:1563 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronis... |
ORPHA:171876 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural he... |
OMIM:616084 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Hip dislocation, Bicar... |
OMIM:309000 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypoglycemia, Hyperammonemia, Knee flexion contracture, Ventricular septal defect, Hypercholester... |
OMIM:620454 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Thin ribs, Natal tooth, Clinodactyly, Small nail, Micrognathia, Reduced subcutaneou... |
OMIM:264090 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemi... |
ORPHA:391487 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... |
OMIM:264350 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Anterior wedging of T12, Absent thumb, Short thumb, Hearing impairme... |
OMIM:227645 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |
| Short Syndrome |
|
Megalocornea, Sensorineural hearing impairment, Posterior embryotoxon, Weight loss, Sparse hair, ... |
ORPHA:3163 |
| Parathyroid Carcinoma |
|
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Lipoma,... |
ORPHA:143 |
| Aspartylglucosaminuria |
|
Wide nasal bridge, Abnormal vertebral morphology, Mandibular prognathia, Carious teeth, Umbilical... |
ORPHA:93 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Downslanted palpebral fissures, Long eyelashes, Astigmatism,... |
OMIM:617523 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Recurrent corneal erosions, Neuropathic arthropath... |
OMIM:223900 |
| Alagille Syndrome 1 |
|
Low-set ears, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Atrial septal d... |
OMIM:118450 |
| Familial Dysautonomia |
|
Optic atrophy, Abnormal pupil morphology, Recurrent fractures, Hyponatremia, Heterochromia iridis... |
ORPHA:1764 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Absent toenail, Ventricular septal de... |
OMIM:620663 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hearing impairment, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating creatine kina... |
OMIM:618835 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... |
ORPHA:300298 |
| Spinal Cord Injury |
|
Vertebral compression fracture, Hypercalcemia, Abnormal autonomic nervous system physiology, Allo... |
ORPHA:90058 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hearing impairment, Hypoglycemia, Cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:618839 |
| Seckel Syndrome 10 |
|
Insulin resistance, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Cone... |
OMIM:617253 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... |
OMIM:616007 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure... |
OMIM:222700 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemoglobin Barts, He... |
ORPHA:846 |
| Multiple Synostoses Syndrome 1 |
|
Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal... |
OMIM:186500 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Gout, Hyperuricemia |
OMIM:174000 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... |
OMIM:603233 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
| Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Hypercholesterolemia, Overweight, Diabetes mellitus, Liver abscess |
ORPHA:69663 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... |
OMIM:177735 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Autoimmune Hypoparathyroidism |
|
Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Autoimmune hypoparathyroidi... |
ORPHA:36913 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Type I diabetes mellitus, Premature graying of hair, Lymphopenia, Nail dystrophy, Thr... |
OMIM:620365 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
| Multiple Osteochondromas |
|
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... |
ORPHA:321 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia, Failure to thrive |
OMIM:143860 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Neutropenia, B lymphocytopenia, P... |
OMIM:301081 |
| Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Elbow dislocation, Atresia of the external auditory canal, Micrognath... |
ORPHA:199 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... |
ORPHA:91500 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Alopecia, Hypoplasia of eyelid, Genu valgum, Leukocytosis, Hypoplasia of the ovary... |
OMIM:619321 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Bloom Syndrome |
|
Insulin resistance, Paronychia, Retrognathia, Micrognathia, Decreased proportion of CD4-positive ... |
ORPHA:125 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased... |
OMIM:203400 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight |
ORPHA:99852 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept... |
ORPHA:98849 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Lipoma, Abnormal parathyroid m... |
ORPHA:99880 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Ventricular septal def... |
OMIM:258900 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Telecanthus, Joint stiffness, Abnormal hemoglobin, Sensorineural hearing impairmen... |
ORPHA:847 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Chondrocalci... |
OMIM:601678 |
| Mend Syndrome |
|
Low-set ears, Cataract, Aortic valve stenosis, Abnormal auditory evoked potentials, Broad hallux,... |
ORPHA:401973 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Hearing impairment, Hyperbil... |
OMIM:619534 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates, ... |
ORPHA:289176 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hearing impairment, Hypoplastic iliac win... |
OMIM:609945 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Breast aplasia, Absent h... |
ORPHA:570 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... |
ORPHA:93352 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggr... |
OMIM:124900 |
| Bartsocas-Papas Syndrome 1 |
|
Low-set ears, Hypoplastic scapulae, Small nail, Hypoplastic iliac wing, Alopecia totalis, Microgn... |
OMIM:263650 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:620152 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hype... |
OMIM:613280 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:611783 |
| Congenital Isolated Acth Deficiency |
|
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... |
ORPHA:199296 |
| Oslam Syndrome |
|
Carious teeth, Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th ... |
ORPHA:2760 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Septic arthritis, Hearing impairment, Recurrent otitis media, Neutropenia, B lymph... |
OMIM:300755 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Trisomy 10P |
|
Low-set ears, Thumb contracture, Micrognathia, Epicanthus, Talipes equinovarus, Macrotia, Short n... |
ORPHA:171929 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long hallux, Mitral valve prolapse, Sensorineural hearing impairment, Ventricular septal defect, ... |
ORPHA:500095 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Hyperinsulinemia, Epicanthus, Impaired neutrophil ... |
ORPHA:79318 |
| Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre... |
OMIM:263400 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... |
OMIM:616278 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Hearing impairment, Delayed cranial suture closure, Micrognathia, Bowi... |
ORPHA:2484 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ... |
ORPHA:86843 |
| Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Elbow dislocation, Abnormal earlobe morphology, Aplasia/hypoplasia of the femur, L... |
ORPHA:2769 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Hearing impairment, Failure to thrive, Hydroxyprolinuria, Kyphosis... |
OMIM:239000 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi... |
OMIM:600920 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... |
OMIM:300539 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Persistence of primary teeth, Astigmatism, Ventric... |
OMIM:619769 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Thin ribs, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowin... |
OMIM:601559 |
| Short Syndrome |
|
Low-set ears, Clinodactyly, Insulin-resistant diabetes mellitus, Megalocornea, Hyperglycemia, Mic... |
OMIM:269880 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Tremor, Decreased serum creatinine |
OMIM:612736 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Flexio... |
OMIM:601812 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Frontal balding, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal... |
ORPHA:90794 |
| Osteogenesis Imperfecta, Type Xiii |
|
Hearing impairment, Decreased body weight, Arachnodactyly, Generalized hirsutism, Dislocated radi... |
OMIM:614856 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Sensorineural hearing impairment, Short neck, Flat a... |
OMIM:271700 |
| Ogden Syndrome |
|
Low-set ears, Palpebral thickening, Delayed cranial suture closure, Recurrent otitis media, Hyper... |
OMIM:300855 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Failure to thrive, Prematur... |
OMIM:613989 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Thrombocytopenia, Sensorineural hearing impairment |
OMIM:619693 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... |
ORPHA:3103 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:617907 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Hearing impairment, Recurrent otitis media, Decreased response to growth h... |
OMIM:307200 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Pericarditis, Abnormal hemoglobin |
ORPHA:163596 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Primary hyperparathyroidism |
OMIM:145981 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal motor evoked potentials, Resting tremor, Abnormal tibia morphology, Abnormal finger morp... |
ORPHA:909 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Hyperbilir... |
OMIM:210710 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... |
OMIM:300200 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... |
OMIM:156550 |
| Sweeney-Cox Syndrome |
|
Low-set ears, Crumpled ear, Hearing impairment, Small nail, Micrognathia, Generalized hirsutism, ... |
OMIM:617746 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Recurrent otitis media, Hepatosplenomegaly, Genu valgum, EEG with central focal spikes, Epicanthu... |
OMIM:301066 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Low-set ears, Failure to thrive, Downslanted palpebral fissures, Micrognathia, A... |
OMIM:617729 |
| Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Joint stiffness, Abnormal morph... |
ORPHA:2167 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
| Glycogen Storage Disease Ib |
|
Hypoglycemia, Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Gout, Delayed puberty, Ne... |
OMIM:232220 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Low-set ears, Failure to thrive, Thrombocytopenia, Neutropenia, Steatorrhea, M... |
OMIM:617941 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:618183 |
| Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Downslanted palpebral fissures, Stiff neck, Broad ribs, Overlapping fingers, Femora... |
OMIM:617022 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Low-set ears, Hepatosplenomegaly, Hypersplenism, Micrognathia, Splenomegaly, Increased serum bile... |
ORPHA:731 |
| Immunodeficiency 40 |
|
Recurrent otitis media, T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Sparse scalp hair, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipos... |
OMIM:606721 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Tr... |
OMIM:610505 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
| Infant Botulism |
|
Mydriasis, Hyponatremia, Ptosis, Keratoconjunctivitis sicca, Chronic otitis media |
ORPHA:178478 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Sensorineural hearing impairmen... |
OMIM:617093 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Small nail, Thumb c... |
ORPHA:96334 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Cholera |
|
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Palmoplantar cutis laxa, Abnormal blood io... |
ORPHA:173 |
| Grfoma |
|
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... |
ORPHA:97261 |
| Myhre Syndrome |
|
Low-set ears, Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hearing impairme... |
OMIM:139210 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Hearing impairment, Absent radius, Abnormal heart morphology, Pancytop... |
OMIM:600901 |
| Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia... |
OMIM:615758 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor |
OMIM:250800 |
| Achondroplasia |
|
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Femo... |
OMIM:100800 |
| Bent Bone Dysplasia Syndrome 1 |
|
Low-set ears, Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Decreased ... |
OMIM:614592 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Abnormal circulating homo... |
ORPHA:88618 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal pupil morphology, Elevated circ... |
ORPHA:101082 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Immunodeficiency 59 And Hypoglycemia |
|
Wide nasal bridge, Slender finger, High anterior hairline, Hypoglycemia, Micrognathia, Decreased ... |
OMIM:233600 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive |
ORPHA:79319 |
| Ppoma |
|
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... |
ORPHA:97278 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Laryngeal dystonia, Hypocalcem... |
ORPHA:94090 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Finger syndactyly, Hearing impairment, Small nail, Micrognathia, Single ven... |
OMIM:308050 |
| Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Micrognathia, Sensorineural hearing impairment, Ventricular septal defect, Epic... |
OMIM:194190 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... |
OMIM:248250 |
| Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi... |
ORPHA:449395 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Failure to thrive in infancy, Hypoketotic hypoglycemia, Equinus calcaneus, Hypoca... |
ORPHA:746 |
| Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia, Failure to thrive |
OMIM:227090 |
| Marshall Syndrome |
|
Low-set ears, Radial bowing, Recurrent otitis media, Micrognathia, Sensorineural hearing impairme... |
OMIM:154780 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Carious teeth, Finger syndactyly, Micrognathia, Bilateral single transverse palma... |
ORPHA:3253 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Epicanthus, Short neck, Radial head subluxation, Advanced ossi... |
OMIM:615777 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Failure to thrive |
ORPHA:1954 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... |
OMIM:207750 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Micrognat... |
OMIM:271640 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Ovoid vertebral bo... |
ORPHA:85167 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Dystonia, Elevated circulating alpha-fetoprotein ... |
OMIM:616267 |
| Atelosteogenesis, Type I |
|
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes equinovaru... |
OMIM:108720 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormal helix morphology, Overlapping toe, Overlapping fingers, Micrognathia, Stre... |
ORPHA:798 |
| Pancreatic And Cerebellar Agenesis |
|
Low-set ears, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Hyperglycemia, Over... |
OMIM:609069 |
| Dysbetalipoproteinemia |
|
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, ... |
ORPHA:412 |
| Van Maldergem Syndrome 2 |
|
Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac... |
OMIM:615546 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... |
ORPHA:2831 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, ... |
ORPHA:439232 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Osteopenia, Type I diabetes mellitus, Palmar telangiectasia, Hepatosplenomegaly,... |
ORPHA:171 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Elevated circulating parat... |
OMIM:600785 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Wide nasal bridge, Microretrognathia, Failure to thrive, Polysplenia, Hypoglyce... |
OMIM:619418 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Progressive hearing impairment, H... |
OMIM:616113 |
| Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Dilated cardiomyopathy, Failure to thrive, Swelling of proximal interphalangeal j... |
ORPHA:3260 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration, Weakness of the in... |
OMIM:160565 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... |
ORPHA:99867 |
| Microphthalmia With Limb Anomalies |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Blepharophimosis, ... |
OMIM:206920 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Opisthotonus, Short neck... |
OMIM:269150 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... |
ORPHA:90790 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Leukopenia, Splenomegaly, Myocarditis, Lymphocytosis, Weight loss, Elevated circulating... |
ORPHA:50918 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory... |
OMIM:602471 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Low-set ears, Abnormal vertebral morphology, Hypoplastic scapulae, Elevated circulating luteinizi... |
ORPHA:95699 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de... |
OMIM:620076 |
| Noonan Syndrome |
|
Abnormality of the spleen, Micrognathia, Sensorineural hearing impairment, Low posterior hairline... |
ORPHA:648 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan... |
ORPHA:79474 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Low-set ears, Optic atrophy, Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine co... |
ORPHA:79282 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Sparse scalp hair, Natal tooth, Increased circulating prolactin concentration, Recu... |
ORPHA:3455 |
| Ritscher-Schinzel Syndrome 3 |
|
Highly arched eyebrow, Short 1st metacarpal, Chorioretinal coloboma, Downslanted palpebral fissur... |
OMIM:619135 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Micrognathia, ... |
OMIM:617866 |
| Proteus-Like Syndrome |
|
Genu recurvatum, Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyr... |
ORPHA:2969 |
| Hyperparathyroidism, Transient Neonatal |
|
Wide nasal bridge, Osteopenia, Fractured rib, Low-set ears, Hyperparathyroidism, Metaphyseal spur... |
OMIM:618188 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Optic atrophy, Hearing impairment, Failure to thrive, Corneal scarring, Absence ... |
OMIM:610965 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Failure to thrive, Hypoglycemia, Elevated circulating creatine ki... |
OMIM:619055 |
| Duane Retraction Syndrome |
|
Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Low p... |
ORPHA:233 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Sen... |
OMIM:618329 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive, Steatorrhea |
OMIM:602579 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... |
OMIM:231100 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... |
ORPHA:309854 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Keratoconus, Failure to thrive, Abnormal form of the vertebral bo... |
ORPHA:52 |
| Johanson-Blizzard Syndrome |
|
Frontal upsweep of hair, Sensorineural hearing impairment, Ventricular septal defect, Atrial sept... |
OMIM:243800 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment, Chorioretinal coloboma, Cong... |
ORPHA:2092 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormality of the nail, Aminoaciduria, Joint ... |
ORPHA:56 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Increased circulating prolactin concentration, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:438213 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibula, Downslanted pal... |
ORPHA:958 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... |
OMIM:258360 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... |
OMIM:268310 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Low-set ears, Small hand, Broad long bones, Micrognathi... |
OMIM:257850 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Cardiomyopathy, Bilateral ptosis, Sensorineural hearing impairment, Absent brainst... |
ORPHA:1215 |
| Treacher-Collins Syndrome |
|
Abnormal hair morphology, Micrognathia, Absent eyelashes, Thyroid hypoplasia, Iris coloboma, Blep... |
ORPHA:861 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... |
OMIM:609136 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Lipoma, Hypocalcemic se... |
ORPHA:405 |
| Van Maldergem Syndrome 1 |
|
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... |
OMIM:601390 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ... |
OMIM:249100 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinem... |
OMIM:557000 |
| Papillorenal Syndrome |
|
Cataract, Optic disc coloboma, Elevated circulating creatinine concentration, Chorioretinal atrop... |
OMIM:120330 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Short humerus, Thoraci... |
OMIM:616716 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Lumbar hyperl... |
ORPHA:370959 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Simpson-Golabi-Behmel Syndrome |
|
Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Small nail, Supernumer... |
ORPHA:373 |
| Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Persistent o... |
ORPHA:1798 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... |
OMIM:214700 |
| Familial Hypoaldosteronism |
|
Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, ... |
ORPHA:427 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia, Hyperostosis, Periostosis, Clubbing |
OMIM:614441 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Parathyroid adenoma |
OMIM:145980 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Aminoaciduria, Rickets, Glycosuria, Bulging epiphyses, Osteomala... |
OMIM:300009 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Wide nasal bridge, Low-set ears, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures... |
ORPHA:1778 |
| Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers... |
OMIM:304120 |
| Familial Isolated Hypoparathyroidism |
|
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Delayed erupti... |
ORPHA:2238 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, B lymphocytopenia, Neutropenia, Rectal abscess, Conjun... |
OMIM:601495 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Situs inversus totalis |
OMIM:602088 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic c... |
OMIM:114290 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen, Back pain |
ORPHA:94088 |
| Codas Syndrome |
|
Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Sensorineural hearing impairment, ... |
OMIM:600373 |
| Goodpasture Syndrome |
|
Anemia, Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... |
OMIM:618883 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, A... |
ORPHA:198 |
| Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia, Developmental cataract |
OMIM:171300 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Type I diabetes ... |
ORPHA:227990 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Rickets, Osteomalacia |
OMIM:179830 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... |
OMIM:300554 |
| Hepatic Lipase Deficiency |
|
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, Short metacarpal, ... |
OMIM:608328 |
| Kyphomelic Dysplasia |
|
Low-set ears, Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared meta... |
OMIM:211350 |
| Craniofacioskeletal Syndrome |
|
Short palpebral fissure, Small hand, Downslanted palpebral fissures, Micrognathia, Hypocalcemia, ... |
OMIM:300712 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Occipital Horn Syndrome |
|
Platyspondyly, Coarse hair, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad rib... |
OMIM:304150 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Hearing impairment, Micrognath... |
OMIM:259420 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased c... |
OMIM:146200 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Failure to thrive, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot,... |
ORPHA:3426 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Ingui... |
OMIM:613848 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Proximal muscle weakness in upper limbs, Back pain, Tremor |
ORPHA:79276 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Distal upper limb muscle weakness, Elevated circul... |
OMIM:620138 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in upper limbs, Hand tremor, Hand muscle weakness, Decreased nerve condu... |
ORPHA:101085 |
| Omodysplasia 2 |
|
Wide nasal bridge, Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic ar... |
OMIM:164745 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... |
OMIM:601198 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Talipes equinovarus, Secondary hyperparathyroidism, Male hypogonadism, Alopecia... |
ORPHA:273 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:203330 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... |
OMIM:277460 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Situs inversus totalis, Hypokalemia, Dextrocardia,... |
OMIM:613095 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vert... |
OMIM:608940 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Low-set ears, Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck,... |
ORPHA:2636 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hearing impairment, Atresia of the e... |
ORPHA:245 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Preaxial foot polydactyly, Obesity, Astigmatism, 2-3 toe syndactyly, Postaxial... |
OMIM:619471 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hearing impairment, Hypoplastic iliac wing, Micrognathia, Delayed pubic bon... |
OMIM:119600 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... |
OMIM:228930 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Tinnitus, Weight loss, Thrombocytosis, ... |
ORPHA:729 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... |
OMIM:272460 |
| Antley-Bixler Syndrome |
|
Hypoplasia of the zygomatic bone, Delayed cranial suture closure, Downslanted palpebral fissures,... |
ORPHA:83 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Alopecia universalis, Premature graying of hair, ... |
ORPHA:363618 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Epicanthus, Short neck, Narrow palpebral fissure, Short nose, Hypocalc... |
OMIM:620330 |
| Revesz Syndrome |
|
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Megalocornea, Nail dy... |
OMIM:268130 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Low-set ears, Sparse scalp hair, Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equ... |
OMIM:130070 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Downslanted palpebral fissures, Abnormal ha... |
OMIM:231070 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hypoplasia of the zygomatic bone... |
ORPHA:1786 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... |
OMIM:619598 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Eruption failure, Micrognathia, Reduced subcutaneous adipose tissue, Delayed ... |
OMIM:619322 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Duane-Radial Ray Syndrome |
|
Sensorineural hearing impairment, Ventricular septal defect, Epicanthus, Aplasia of metacarpal bo... |
OMIM:607323 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Sensorineural hearing impairment, Hypoka... |
OMIM:613090 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Ulnar deviat... |
OMIM:142900 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Weight loss, Myocarditis, Thyroiditis |
ORPHA:139402 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Dilated cardiomyopathy, Retrognathia, Cardiomyopathy, Recurrent shoulder dislocation,... |
OMIM:212112 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Hypothyroidism, Split hand, Aplasia/Hypoplas... |
ORPHA:2491 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Abnormal nasolac... |
ORPHA:2658 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Mesomelia, Rhizomelia, Metaphyseal cupping, Aplastic clavicle, Abnormal epi... |
ORPHA:50945 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand... |
ORPHA:2878 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Delayed puberty |
OMIM:232240 |
| Trisomy 9P |
|
Downslanted palpebral fissures, Sacral dimple, Impacted tooth, Hypoplastic fingernail, Abnormal p... |
ORPHA:236 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Low-set ears, Abnormal vertebral morphology, Carpal synostosis, Micr... |
OMIM:218600 |
| Pfeiffer Syndrome |
|
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... |
ORPHA:710 |
| Melnick-Needles Syndrome |
|
Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, Genu valgum, Microg... |
OMIM:309350 |
| Achondrogenesis, Type Ia |
|
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... |
OMIM:200600 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Highly el... |
ORPHA:99845 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... |
OMIM:187900 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Hearing impairment, Hyperglycemia, Micrognathia, Senso... |
ORPHA:444077 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Velocardiofacial Syndrome |
|
Retrognathia, Umbilical hernia, Tetralogy of Fallot, Hypocalcemia, Inguinal hernia, Ventricular s... |
OMIM:192430 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... |
OMIM:250790 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hypophosphatemi... |
OMIM:276700 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the... |
ORPHA:2538 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Type II ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Type II ... |
ORPHA:99228 |
| Monosomy X |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Type II ... |
ORPHA:99226 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Aplasia/Hypoplasia of the earlobes, Hyp... |
ORPHA:1968 |
| Turner Syndrome |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Type II ... |
ORPHA:881 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m... |
ORPHA:740 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis |
ORPHA:293173 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Telecanthus, Genu valgum, Joint... |
ORPHA:1295 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... |
ORPHA:75508 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Alopecia, Hyperphosphatemia, Hypomagnesemia, Abnormal fingernail morphology, Hypoc... |
ORPHA:428 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E... |
ORPHA:1106 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Sensorineural hearing impairment |
OMIM:615244 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Tetralogy of Fallot, Elevated circulating creatinine concentration, Overlapping toe... |
OMIM:617478 |
| Femoral-Facial Syndrome |
|
Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Vent... |
OMIM:134780 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Hearing impairment, Optic disc coloboma, Elevated circulating crea... |
ORPHA:2260 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Short palpebral fissure, Cupped ear, Hearing impairment, Tetralogy of Fallot, Upsla... |
OMIM:617159 |
| Roberts-Sc Phocomelia Syndrome |
|
Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Ventricular septal defect, ... |
OMIM:268300 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Low-set ears, Sandal gap, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Retro... |
ORPHA:1812 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Hearing impairment, Micrognathia, Epicanthus, Brittle hair, Foot polydactyly, ... |
ORPHA:2750 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Failure to thrive, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hy... |
ORPHA:89938 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... |
OMIM:610915 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... |
ORPHA:90793 |
| Marshall Syndrome |
|
Wide nasal bridge, Cataract, Sparse eyebrow, Hypoplasia of the maxilla, Ectopia lentis, Hypoplasi... |
ORPHA:560 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... |
OMIM:602418 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... |
OMIM:601438 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Corneal perforation, Thyroiditis, Lymphopenia, Leukopenia, Polyarticular arthr... |
ORPHA:289390 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia |
ORPHA:209902 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Breast aplasia, Abnormal fingernail morp... |
ORPHA:3138 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Beckwith-Wiedemann Syndrome |
|
Hearing impairment, Abnormal earlobe morphology, Congenital diaphragmatic hernia, Neonatal hypogl... |
ORPHA:116 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... |
OMIM:207410 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Dystonia, Gout, Hyperuricemia |
ORPHA:79233 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... |
ORPHA:206436 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,... |
ORPHA:370930 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Arthritis, Neutrophilia, Optic disc pallor |
OMIM:260920 |
| Pycnodysostosis |
|
Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Delayed eru... |
OMIM:265800 |
| Neovascular Glaucoma |
|
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... |
ORPHA:94058 |
| Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Adrenal insufficiency, Elevated... |
ORPHA:99827 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, Sensori... |
ORPHA:17 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Hearing impairment, F... |
OMIM:620099 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Yunis-Varon Syndrome |
|
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single ... |
OMIM:216340 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... |
OMIM:258315 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hy... |
OMIM:616507 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Failure to thrive, Recurrent fractures, Micrognathia,... |
OMIM:609465 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Palmoplantar keratoderma, Small nail, Nail dystrophy, Palmoplantar hyperhidrosis, Hypercholestero... |
OMIM:610644 |
| Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Recurrent otitis media, Micrognathia, Sensorineural hearing impairment, Narrow palp... |
OMIM:619841 |
| Distal Deletion 6P |
|
Low-set ears, Abnormal epiphysis morphology, Hearing impairment, Downslanted palpebral fissures, ... |
ORPHA:96125 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... |
ORPHA:90795 |
| Scalp-Ear-Nipple Syndrome |
|
Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Epicanthus, Multiple lipomas... |
OMIM:181270 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... |
ORPHA:138 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Sensorineural hearing impairment, Hypoka... |
OMIM:602522 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Hyperty... |
OMIM:617156 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
| Thalidomide Embryopathy |
|
Insulin resistance, Hearing impairment, Preaxial hand polydactyly, Radial club hand, Anotia, Apla... |
ORPHA:3312 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Highly arched eyebrow, Short 1st metacarpal, Central hypothyroidism,... |
OMIM:620305 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Wide nasal bridge, Microretrognathia, Joint dislocation, Joint hypermobility, Short clavicles, Sh... |
OMIM:606220 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Cataract, Mandibular prognathia, Sandal gap, Hypoplasia of the zygomatic bone, Lar... |
ORPHA:2715 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Short palm, Pat... |
ORPHA:93328 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... |
OMIM:616881 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:137920 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Optic... |
OMIM:169550 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Cone-shaped epiphysis, Downslanted palpebral fissures, Atrioventricular canal defec... |
OMIM:617088 |
| Catel-Manzke Syndrome |
|
Low-set ears, Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Ventricular septal de... |
OMIM:616145 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Delayed cranial suture clo... |
OMIM:603116 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... |
OMIM:276820 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Low-set, posteri... |
ORPHA:1110 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, EEG with spike-wave com... |
ORPHA:319171 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Hearing impairment, Hyperplasia of the maxilla, Overlap... |
OMIM:613406 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Ectopia pupillae, Recurrent otitis media, Long hallux, Genu valgum, Axenfe... |
ORPHA:261552 |
| Neonatal Marfan Syndrome |
|
Wide nasal bridge, Low-set ears, Crumpled ear, Abnormal cardiac ventricle morphology, Ectopia len... |
ORPHA:284979 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Co... |
ORPHA:1765 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Absent toenail, Conge... |
OMIM:305600 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Decreased circulating renin level, Hypokalemia, ... |
OMIM:615474 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Low-set ears, Microretrognathia, Hypoplasia of the zygomatic bone, Downslanted... |
OMIM:613603 |
| Floating-Harbor Syndrome |
|
Low-set ears, Broad thumb, Carious teeth, Recurrent otitis media, Low posterior hairline, Short n... |
OMIM:136140 |
| Toluene Embryopathy |
|
Low-set ears, Short palpebral fissure, Hypoplasia of the zygomatic bone, Micrognathia, Protruding... |
ORPHA:1920 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Hypocalcemia, Hashimoto thyroiditis, Hypothyroidism, Th... |
ORPHA:64744 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia, Failure to thrive |
OMIM:618426 |
| Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Elbow dislocation, Hearing impairment, Atresia of the external auditory canal, Micr... |
ORPHA:2554 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Palpebral edema, Hyperlipidemia |
ORPHA:567546 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating renin level, ... |
ORPHA:320 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Mitral valv... |
ORPHA:730 |
| Cerebrocostomandibular Syndrome |
|
Low-set ears, Congenital hip dislocation, Posterior rib gap, Carious teeth, Conductive hearing im... |
OMIM:117650 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... |
OMIM:218030 |
| Acrofrontofacionasal Dysostosis 1 |
|
Wide nasal bridge, Short distal phalanx of finger, Optic atrophy, Broad thumb, Small nail, Long e... |
OMIM:201180 |
| Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Abnormality of neutrophil physiology, Bone marrow hypocellularity, Poly... |
ORPHA:2968 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Facial paralysis, Ectopia pupillae, Hypoplasia of the iris, Limb dystonia, Peripapil... |
OMIM:175780 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia, Facial palsy |
ORPHA:31826 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Cataract, Kyphosis, Pathologic fracture, Increased susceptibility to f... |
OMIM:259770 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Limitation of joint mobility, Conductive hearing impairment, Hypoplasia of the zyg... |
ORPHA:3145 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Low-set ears, Short nail, Kyphosis, Short 4th toe, Failure to thrive, Short... |
ORPHA:420794 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Traboulsi Syndrome |
|
Cataract, Homocystinuria, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Downslanted p... |
OMIM:601552 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Ante... |
OMIM:181450 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Low-set ears, Hypoamylasemia, Neonatal insulin-dependent diabetes mellitus, Small for gestational... |
ORPHA:556955 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Palmoplantar keratoderma, Hypoplasia of the zy... |
ORPHA:1555 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Failure to thrive |
OMIM:618252 |
| X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, ... |
ORPHA:1131 |
| Ulbright-Hodes Syndrome |
|
Low-set ears, Thin ribs, Abnormal forearm bone morphology, Abnormal rib morphology, Fibular aplas... |
ORPHA:3404 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Tinnitus, N... |
ORPHA:231625 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Wide nasal bridge, Low-set ears, Small pituitary gland, Hypertrichosis, Trident pelvis, Short hum... |
OMIM:619479 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Aplastic clavicle, Hearing impairment, Delayed cranial suture closure, ... |
ORPHA:85199 |
| Nephronophthisis 11 |
|
Anemia, Anisocoria |
OMIM:613550 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Progressive sensorineural hearing impairment, Abnormal heart morphology, ... |
ORPHA:2237 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Short foot, Partial fusion of pr... |
OMIM:600383 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Toe syndactyly, Hearing impairment, Atresia of the external auditory c... |
ORPHA:920 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Restrictive Dermopathy 1 |
|
Low-set ears, Natal tooth, Micrognathia, Sparse eyelashes, Absent eyelashes, Blepharophimosis, At... |
OMIM:275210 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Tinnitus, Glucocortocoid-ins... |
ORPHA:231580 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Tinnitus, Decreased circulating renin level, Glucocortocoid-insensitive primary hype... |
ORPHA:231632 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Decreased nerve... |
ORPHA:90658 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hyp... |
OMIM:119100 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology, Retrognathia, Abnormality of connective tissue, Inguinal hernia, Ara... |
ORPHA:91387 |
| Floating-Harbor Syndrome |
|
Low-set ears, Carious teeth, Clinodactyly, Short neck, Atrial septal defect, Broad fingertip, Lon... |
ORPHA:2044 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... |
OMIM:618022 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ... |
OMIM:113300 |
| Hypoglossia-Hypodactyly Syndrome |
|
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... |
ORPHA:989 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
| Enlarged Parietal Foramina |
|
Short clavicles, Craniosynostosis, Broad thumb |
ORPHA:60015 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Pe... |
ORPHA:73224 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone |
ORPHA:3074 |
| Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, ... |
OMIM:248390 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Abnormal e... |
ORPHA:95716 |
| Restrictive Dermopathy 2 |
|
Short clavicles, Microretrognathia, Overtubulated long bones |
OMIM:619793 |
| Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Keratoconus, Carious teeth, Mitral valve prolapse, Epicanthus... |
ORPHA:286 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Microtia, Widely patent fontanelles and sutures |
OMIM:168550 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Sparse eyebrow, Sparse scalp hair, Fine hair, Nail dystrophy, Sparse eyelashes, ... |
OMIM:614748 |
| Ablepharon-Macrostomia Syndrome |
|
Low-set ears, Toe syndactyly, Hearing impairment, Cutaneous finger syndactyly, Absent eyelashes, ... |
OMIM:200110 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplastic toenails, Hypoplasia of the zygomatic bone, Short nose, Nail dysplasia |
ORPHA:2835 |
| Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Carpal bone aplasia, Fibular ap... |
OMIM:200500 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Aplastic clavicle, Micromelia, Preaxial polydactyly, Congenital diaphragmatic herni... |
OMIM:616546 |
| Oculoauricular Syndrome |
|
Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal c... |
OMIM:612109 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Low-set ears, Type I diabetes mellitus, Conductive hearing impairment, Hypoplasia of the zygomati... |
OMIM:618500 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... |
OMIM:202010 |
| Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Joint stiffness, Irido... |
OMIM:613195 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Retinoblastoma |
|
Cellulitis, Hypopyon, Heterochromia iridis, Leukocoria, Leukemia, Uveitis |
ORPHA:790 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Thick eyebrow, Short humerus, Epiblepharon, Exaggerated startle response, EEG with generalized sl... |
OMIM:618367 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O... |
ORPHA:98977 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
| Hec Syndrome |
|
Endocardial fibroelastosis, Cardiomyopathy, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Fuchs Heterochromic Iridocyclitis |
|
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... |
ORPHA:263479 |
| Norrie Disease |
|
Abnormal helix morphology, Sensorineural hearing impairment, Cachexia, Anterior chamber synechiae... |
ORPHA:649 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon, Abnormal pupil morphology |
ORPHA:2151 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Myocardial steatosis, Hypercholesterolem... |
ORPHA:391665 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Collagenoma, Familial Cutaneous |
|
Congenital posterior occipital alopecia, Cardiomyopathy, Right ventricular cardiomyopathy, Iris a... |
OMIM:115250 |
| Microphthalmia, Syndromic 1 |
|
Low-set ears, Joint contracture of the hand, Clinodactyly, Hearing impairment, Chorioretinal colo... |
OMIM:309800 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... |
OMIM:613717 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Peripapillary atrophy, Ch... |
ORPHA:67042 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Ptosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Retinitis Pigmentosa 97 |
|
Iris atrophy |
OMIM:620422 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
