Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Fibromatosis, Gingival, 1 |
|
Gingival fibromatosis |
OMIM:135300 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Fibromatosis, Gingival, With Progressive Deafness |
|
Gingival fibromatosis |
OMIM:135550 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Hereditary Gingival Fibromatosis |
|
Gingival fibromatosis |
ORPHA:2024 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Fibromatosis, Gingival, 5 |
|
Gingival fibromatosis |
OMIM:617626 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Holoprosencephaly 5 |
|
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Synophrys, H... |
OMIM:609637 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Epicanthus, Aganglionic megacolon, Polyhydramnios, Intr... |
OMIM:613603 |
Primary Ciliary Dyskinesia |
|
Chronic otitis media, Conductive hearing impairment, Abnormal sperm motility, Male infertility, N... |
ORPHA:244 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Pontocerebellar Hypoplasia, Type 13 |
|
Recurrent respiratory infections, Epicanthus, Anteverted nares, Edema, Asthma, Volvulus, Overfold... |
OMIM:618606 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses... |
OMIM:244400 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Sensorineural hearing impa... |
OMIM:616430 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Broad nasal tip, Developmental cataract, Lateral ventric... |
OMIM:619420 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Feeding difficulties, Upslant... |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Anteverted nares, Eczema, Highly arched eyebrow, Prominent nasal bridge... |
OMIM:617751 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Dehydration, Conjunctivitis, High palate, Cough, Chronic otitis media, Meningi... |
ORPHA:33110 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Cach Syndrome |
|
Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Feeding difficult... |
ORPHA:135 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Bulbous nose, Optic atrophy... |
OMIM:615219 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Nasogastric tube feeding in infancy, Protruding ear, Thick nasal alae, Agenesis of corpus callosu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Nasogastric tube feeding in infancy, Protruding ear, Thick nasal alae, Agenesis of corpus callosu... |
ORPHA:363958 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Macrotia, ... |
ORPHA:1780 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Polyhydramnios, Large for gestational age, Bilateral cryptorchidism, Dilated third ventricle, Abs... |
ORPHA:544488 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasa... |
OMIM:612444 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Anteverted nares, Depressed nasa... |
OMIM:610015 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, Arthritis, Conjunctiv... |
OMIM:601457 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... |
ORPHA:572 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Epicanthus, Depressed nasal bridge... |
ORPHA:2268 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Hec Syndrome |
|
Communicating hydrocephalus, Polyhydramnios, Abnormal retinal vascular morphology, Abnormal pupil... |
ORPHA:2119 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ... |
OMIM:614034 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Recurrent viral infections, Abdominal pain, Intraventricu... |
ORPHA:420741 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Abdominal pain, Perior... |
OMIM:142680 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Leptin Receptor Deficiency |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Recurrent ... |
OMIM:614963 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Anteverted nares |
OMIM:300982 |
Bainbridge-Ropers Syndrome |
|
Polyhydramnios, Micrognathia, Synophrys, Periorbital fullness, Choanal stenosis, Vomiting, Gastro... |
OMIM:615485 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Hooded eyelid, Uplifte... |
OMIM:619841 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Bulbous nose, Patent ductus arteriosus, Lateral ventricle dilatation, Low-set ears, Long palpebra... |
OMIM:618330 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Severe cytom... |
ORPHA:397596 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Epicanthus, Long nose, Patent ductus arteriosus, Anomalou... |
ORPHA:2184 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Periorbital fullness, Cough, Meningitis, Infectious encephali... |
ORPHA:1163 |
Pontocerebellar Hypoplasia, Type 1A |
|
Feeding difficulties in infancy, Intercostal muscle weakness, Respiratory insufficiency, Degenera... |
OMIM:607596 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai... |
ORPHA:2070 |
Zygomycosis |
|
Fasciitis, Sinusitis, Rhinorrhea, Periorbital edema, Acute infectious pneumonia, Periorbital full... |
ORPHA:73263 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Sensorineural hearing impairment, Feeding difficulties, Upslanted palpebral fissure, Protruding e... |
OMIM:617854 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Dextrotransposi... |
OMIM:619995 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Christianson Syndrome |
|
Mandibular prognathia, Thick eyebrow, Cachexia, Abnormality of the nose, Feeding difficulties in ... |
ORPHA:85278 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Abnormal pinna morphology, Polyhydramnios, Micrognathia, Respiratory insufficiency... |
OMIM:618291 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Periorbital edema, Abnormal lacrimal ... |
ORPHA:141083 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Alg2-Cdg |
|
Epicanthus, Cataract, Wide nasal bridge, Lateral ventricle dilatation, Downslanted palpebral fiss... |
ORPHA:79326 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Premature ovarian insufficiency, Depression |
OMIM:615889 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hooded eyelid, High, narrow palate, Anteriorly placed anus, High palate, In... |
OMIM:612863 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Recurrent skin infe... |
OMIM:256500 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Optic atrophy, Developmental c... |
OMIM:614219 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Telecanthus, Failure to thrive, Anteverted nares, Apnea, Posteriorly... |
ORPHA:2462 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Cachexia, Malabsorpti... |
ORPHA:3452 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation, Depression |
ORPHA:306669 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Polyhydramnios, Micrognathia |
OMIM:618266 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Depressed nasal bridge, Anteverted nares, Poly... |
OMIM:618188 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Otitis media, Depressed nasal bridge, Highly ... |
ORPHA:309282 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Dural Sinus Malformation |
|
Nausea and vomiting, Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhag... |
ORPHA:97339 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Cataract, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Congenital ptosis, Flar... |
ORPHA:280679 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Abnormal pinna morphology, Micrognathia, Rec... |
ORPHA:3078 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Cleft palate, Upslanted palpebral fissure, Large earlobe, Lat... |
OMIM:615716 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Bronchiectasis, D... |
OMIM:618063 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Sensor... |
ORPHA:47 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Severe sensor... |
OMIM:604213 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pharyngitis, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ... |
ORPHA:486 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Pa... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Bul... |
ORPHA:1237 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Cataract, Anteverted nares, Venous insufficie... |
ORPHA:2969 |
Scedosporiosis |
|
Sinusitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusual skin infec... |
ORPHA:449280 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Epicanthus, Anteverted nares, Episodic tachypnea... |
OMIM:608629 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, Atopic derma... |
OMIM:603165 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Failure to thrive in infancy, Micrognathia, Feeding difficulties in infan... |
ORPHA:284417 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Bloom Syndrome |
|
Recurrent herpes, Poor appetite, Micrognathia, Severe varicella zoster infection, Uveitis, Gastro... |
ORPHA:125 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Poor appetite, Gastrointestinal dysmotility, Vomiting,... |
ORPHA:298 |
Trichinellosis |
|
Skin rash, Facial palsy, Abnormal cerebrospinal fluid morphology, Edema, Facial edema, Trismus, P... |
ORPHA:863 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight |
ORPHA:324422 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Intraventricular hemorrhage, Cleft palate, Recurrent infections, Feeding difficulties,... |
ORPHA:79284 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Re... |
OMIM:240500 |
Paroxysmal Hemicrania |
|
Nausea and vomiting, Palpebral edema, Rhinorrhea, Focal sensory seizure with olfactory features, ... |
ORPHA:157835 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, No... |
OMIM:618699 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Sepsis, Dehydration, Vomiting, Nephrit... |
ORPHA:2552 |
Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Cachexia, Underdeveloped nasal alae, Pr... |
ORPHA:2471 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Cerebrospinal fluid rhinorrhoea, Pulmon... |
ORPHA:183675 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recu... |
OMIM:616726 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Facial edema, Nonproductive cough, Fulminant hepatitis, Odynophag... |
ORPHA:319213 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Diarrhea, Recurrent pneumonia... |
ORPHA:277 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu... |
ORPHA:331 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge, Feeding difficulties |
OMIM:614019 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arterio... |
OMIM:617397 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... |
OMIM:614874 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Abnormal cerebrospinal fluid morphology, Subcutaneous hemorrh... |
ORPHA:448237 |
Crouzon Syndrome |
|
Choanal atresia, Convex nasal ridge, Hearing impairment, Hypoplasia of the maxilla, Hydrocephalus... |
ORPHA:207 |
Tularemia |
|
Respiratory distress, Pharyngitis, Tachycardia, Brain abscess, Skin rash, Pneumonia, Erythema nod... |
ORPHA:3392 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... |
ORPHA:36382 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Bronchiectasis, A... |
ORPHA:60033 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Feeding difficulties, Subep... |
ORPHA:25 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... |
OMIM:617091 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi... |
ORPHA:662 |
American Trypanosomiasis |
|
Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Edema, Myo... |
ORPHA:3386 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Microretrognathia, Anteverted nares, Hydrocephalus, Optic atrophy, Recurrent i... |
OMIM:300884 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Respiratory insufficiency, Abno... |
ORPHA:97229 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure, Depressed nasal ... |
ORPHA:1861 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Cataract, Anteverted nares, Depressed nasal bridge, Bulbous nose, Feeding difficultie... |
OMIM:614105 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Periorbital edema, Otitis media, Cough, Chronic otitis media, Meningitis, Abdominal pa... |
ORPHA:900 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Inappropriate behavior, Eup... |
OMIM:221770 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Optic atrophy, Decreased body weight, Macrotia |
ORPHA:1672 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:612649 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Decreased nerve conduction velocity, ... |
ORPHA:85446 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Telecanthus, Corneal opacity, Anteverted nares, Depressed nasal brid... |
ORPHA:1064 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Respiratory insufficiency, Feeding difficulties |
OMIM:617668 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonad... |
ORPHA:54595 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Immotile cil... |
OMIM:614935 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Ventriculomegaly, Low-set, posteriorly rotate... |
ORPHA:457359 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Lateral ventricle dila... |
OMIM:619517 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Posteriorly rotated ears, High palate, Prominent supraorbital ridges, Low-set ears, C... |
OMIM:619548 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Apnea, Micrognathia, Subependymal cysts, Cardiomyopathy, Lateral ventricle ... |
OMIM:600721 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Protein-losing enteropathy, Recurrent otitis... |
OMIM:613502 |
Hurler Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Anteverted nares, Depressed nasal bridge, Angi... |
ORPHA:93473 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Depression, Intracranial hemor... |
ORPHA:136 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Abnormal retinal vascular morpho... |
ORPHA:33226 |
Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Abnormal tongue morphology, Wheezing, Angioedema, Syncope, Nausea |
ORPHA:97230 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Posteriorly rotated ears, Aortopulmonary collateral arteries, Facial hypotonia, Broa... |
OMIM:617557 |
Pineocytoma |
|
Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology |
ORPHA:251912 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis |
OMIM:618801 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
H Syndrome |
|
Abnormal eyebrow morphology, Psoriasiform dermatitis, Malabsorption, Recurrent pharyngitis, Hydro... |
ORPHA:168569 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... |
OMIM:613493 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis m... |
OMIM:612692 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Protein-losing enteropathy, Cond... |
OMIM:235510 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... |
ORPHA:99828 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Polyhydramnios, Developmental cataract |
OMIM:600559 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Alexander Disease Type I |
|
Cachexia, Hydrocephalus, Vomiting, Dysphagia, Failure to thrive |
ORPHA:363717 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunc... |
OMIM:607594 |
Wyburn-Mason Syndrome |
|
Nausea and vomiting, Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morp... |
ORPHA:53719 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Thickened... |
ORPHA:293725 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchiti... |
OMIM:300455 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Vomiting |
ORPHA:77299 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Obesity, A... |
OMIM:300310 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Failure to thrive, Depressed nasal bridge, Overweight, High, na... |
OMIM:619575 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Conjunctivitis, Chronic oral candid... |
OMIM:616740 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Immunodeficiency 102 |
|
Recurrent skin infections, Severe varicella zoster infection, Recurrent upper respiratory tract i... |
OMIM:301082 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Feeding difficulties, Lateral ventricle dilatati... |
OMIM:301025 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions, Strok... |
OMIM:602248 |
Distal Deletion 10Q |
|
Prominent nose, Micrognathia, Protruding ear, High palate, Spina bifida occulta, Patent ductus ar... |
ORPHA:96148 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Congenital Hydrocephalus |
|
Posteriorly rotated ears, Hydrocephalus, Bulbous nose, Optic atrophy, Sensorineural hearing impai... |
ORPHA:2185 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Poor suck, Optic nerve hypoplasia, Gastrostomy tube feeding in infancy |
OMIM:618890 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Renpenning Syndrome |
|
Mandibular prognathia, Decreased testicular size, Epicanthus, Cataract, Cachexia, Prominent nose,... |
ORPHA:3242 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Micrognathia, Protrud... |
OMIM:242860 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Cerebral hemorrhage, Nausea, Congestive heart failu... |
ORPHA:94080 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Abdominal pain, Pericardial effusion, Angi... |
ORPHA:36412 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon |
ORPHA:401986 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Lateral ventricle dilatation, Downslanted palpebral fissures, Spina bifid... |
OMIM:618736 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Ptosis |
OMIM:619972 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Polyhydramnios, Cryptorchidism, Sensorineural hearing impairment, Feed... |
OMIM:619847 |
Tenorio Syndrome |
|
Mandibular prognathia, Telecanthus, Ventriculomegaly, Anteverted nares, Wide nose, Apnea, Raynaud... |
OMIM:616260 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Feeding difficulties in infancy, Lateral ventricle dil... |
ORPHA:420179 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Diarrhea, Increased CSF lactate, Weight loss, Feeding difficultie... |
OMIM:612075 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Conductive hearing impairment, Papilledema, Recurrent ear infections... |
ORPHA:580 |
Atypical Teratoid Rhabdoid Tumor |
|
Nausea and vomiting, Irritability, Hydrocephalus |
ORPHA:99966 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Nasogastric tube feeding in infancy, Temporomandibul... |
ORPHA:141152 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Epicanthus, Cachexia, Micrognathia, Hearing impairment... |
OMIM:618186 |
Lassa Fever |
|
Abnormal bleeding, Pharyngitis, Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Fac... |
ORPHA:99824 |
1Q21.1 Microduplication Syndrome |
|
Cataract, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux, Failure to... |
ORPHA:250994 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Wide nasal bridge, Colpocephaly, Decreased liver function, Low-s... |
OMIM:614870 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Hydrocephalus, Periodontitis, Hearing impairment |
ORPHA:1008 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Polyhydramnios, Micrognathia, Periorbital fullness, Gastroesophageal reflux, High palate, Medial ... |
OMIM:619833 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Severe varicella zoster infection, T... |
ORPHA:36234 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Epicanthus, Lacrimal duct stenosis, Prominent nasal bridge, Posteriorly rot... |
OMIM:619745 |
Bilateral Generalized Polymicrogyria |
|
Oral-pharyngeal dysphagia, Feeding difficulties, Lateral ventricle dilatation, Gastroesophageal r... |
ORPHA:208447 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Pericarditis, Recurrent urinary tract infections, Chilblains, Portal hyperten... |
OMIM:619487 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Facial edema, Laryngeal edema, Diarrhea, Edema of the dorsum of hands, Angioedema... |
OMIM:619367 |
Degcags Syndrome |
|
Polyhydramnios, Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Gastroesophag... |
OMIM:619488 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Mandibular prognathia, Posteriorly rotated ears, Prominent nasal bri... |
OMIM:617011 |
Ciliary Dyskinesia, Primary, 37 |
|
Hearing impairment, Female infertility, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhin... |
OMIM:617577 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly |
OMIM:618999 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Recurrent urinary tract infections... |
OMIM:619229 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus... |
OMIM:617053 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas... |
ORPHA:727 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Cataract, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy,... |
OMIM:300845 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Cachexia, Prominent nose, Failure to thrive... |
OMIM:616801 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebro... |
OMIM:614424 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Lacrimal Duct Defect |
|
Sinusitis, Periorbital edema, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Epicanthus, Optic nerve hypoplasia, Micrognathia, Feeding difficulties in infancy, Bilateral ptos... |
ORPHA:300570 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Alg12-Cdg |
|
Edema, Micrognathia, Polyhydramnios, Sepsis, Gastroesophageal reflux, Recurrent ear infections, R... |
ORPHA:79324 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Micrognathia, Hydrocephalus, Shallow orbits, Dentinogenesis imperfec... |
OMIM:112240 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary |
ORPHA:314478 |
Emanuel Syndrome |
|
Hooded eyelid, Micrognathia, Recurrent candida infections, Gastroesophageal reflux, High palate, ... |
ORPHA:96170 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Vomiting, Facial palsy |
OMIM:256850 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Macroorchidism, Protruding ear, Ascending tubular aorta aneurys... |
ORPHA:908 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Feeding difficulties in infancy, Vomiting, High palate, Agenesis of corpus callosum, Anten... |
OMIM:608836 |
Pgm3-Cdg |
|
Recurrent viral infections, Sepsis, Gastroesophageal reflux, High palate, Chronic otitis media, C... |
ORPHA:443811 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Apnea, Micrognathia, Tachypnea, Abnormal optic disc morphology, Gastroes... |
ORPHA:397715 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Prominent nose, Micrognathia, Nasogastric tube feeding in infancy, Feeding ... |
ORPHA:177907 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infections, Periorbital edema, ... |
OMIM:618048 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, ... |
ORPHA:906 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Sensorineural hearing impairment, Cardiomyopathy, Rhinitis, Abnormal nerve condu... |
ORPHA:93476 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Intraventricular hemorrhage, Increased CSF lactate, Feeding difficulti... |
OMIM:619055 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, R... |
ORPHA:32960 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, High, narrow palate, Microcornea, Dilated third ventricle, Agenesis of cor... |
ORPHA:464738 |
Poikiloderma With Neutropenia |
|
Skin rash, Depressed nasal bridge, Edema, Underdeveloped nasal alae, Sparse eyebrow, Micrognathia... |
OMIM:604173 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Diarr... |
ORPHA:449285 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Dilation of Virchow-Robin spaces, Feeding difficulties in infancy, Irritability, Lateral ventricl... |
ORPHA:2148 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Epicanthus, Depressed nasal bridge, Sparse eyebrow, Synophrys, Sensorineural hearing impairment, ... |
OMIM:620075 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anteverted nares, Failure to thrive in infancy, Posteriorly rotated ears, Micrognathia, Feeding d... |
OMIM:611209 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometro... |
ORPHA:849 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation |
OMIM:116860 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Co... |
OMIM:217090 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Prominent nose, Cryptorchidism, Lateral ventricle dilatation, High palate,... |
OMIM:619244 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Chronic si... |
OMIM:620356 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car... |
OMIM:259710 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage, Dysphagia |
ORPHA:324708 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Episodic vomiting, Eyelid coloboma, Gastroesopha... |
OMIM:615873 |
Craniosynostosis 6 |
|
Sensorineural hearing impairment, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Leishmaniasis |
|
Abnormal bleeding, Rhinitis, Anorexia, Weight loss |
ORPHA:507 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Horner syndrome |
OMIM:106070 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios, Respiratory insufficiency |
OMIM:215550 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased CSF protein concentration, Unusual skin infection, Sinusitis, Pneumonia, Abnormal cereb... |
ORPHA:68 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... |
OMIM:615816 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Anteverted nares, Posteriorly rotated ears, Micrognathia, Keratitis, Synophrys, ... |
OMIM:602562 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival ble... |
ORPHA:98880 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide,... |
OMIM:615294 |
Idiopathic Achalasia |
|
Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspirat... |
ORPHA:930 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Corneal opacity, Depressed nasal bridge, Apnea, Mala... |
ORPHA:579 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Carboxypeptidase N Deficiency |
|
Angioedema, Allergic rhinitis |
OMIM:212070 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Dysplastic corpus callosum, Sensorineural hearing impairment, Tubul... |
ORPHA:488627 |
Emanuel Syndrome |
|
Micrognathia, Gastroesophageal reflux, High palate, Dandy-Walker malformation, Cryptorchidism, Pa... |
OMIM:609029 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Feeding difficulties |
ORPHA:488635 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Failure to thrive, Cataract, Optic nerve hypoplasia, Highly arched eyebrow... |
OMIM:620157 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg... |
ORPHA:2050 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Abnormal cerebral vascular morphology, Large for gestational age, Edema, Po... |
ORPHA:363705 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Skin rash, Feeding difficulties |
ORPHA:26 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... |
ORPHA:206436 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Lymp... |
ORPHA:2930 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Conjunctivitis, Vomiting, Cough, Me... |
ORPHA:454836 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Lateral ventricle dilatation, Hydrocele testis, Recurrent infections |
ORPHA:85290 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Wheezing, Recu... |
OMIM:613807 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Lymphatic Malformation 6 |
|
Epicanthus, Generalized edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Micro... |
OMIM:616843 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Abnormal... |
ORPHA:251992 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Wheezing, Recur... |
OMIM:613808 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, ... |
OMIM:618929 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Palpebral edema, Anteverted nares, Depressed nasal... |
ORPHA:363659 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dandy-Walker malformation, Posteriorly rotated ears, Episodic tachypnea, Mic... |
ORPHA:163961 |
Shigellosis |
|
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Dehydration,... |
ORPHA:810 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Epicanthus, Psoriasiform dermatitis, Small for gestational age,... |
OMIM:606593 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... |
ORPHA:90068 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Slc35A2-Cdg |
|
Failure to thrive in infancy, Sensorineural hearing impairment, Feeding difficulties, Lateral ven... |
ORPHA:356961 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... |
ORPHA:99745 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Roifman Syndrome |
|
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:616651 |
Cyclic Neutropenia |
|
Pharyngitis, Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis,... |
ORPHA:2686 |
Cystic Fibrosis |
|
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Gastroesophageal refl... |
ORPHA:586 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Feeding difficu... |
OMIM:618577 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Cog5-Cdg |
|
Posteriorly rotated ears, Prominent nose, Cryptorchidism, Sensorineural hearing impairment, Wide ... |
ORPHA:263487 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Broad nasal tip, Micrognathia, Cryptorchidism, Hydrocephalus, Patent d... |
OMIM:609757 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Onychomycosis, Angioedema, Presync... |
OMIM:614468 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Anorexia, Abnormal eyelid morphology, Pustule, Malabsorpt... |
ORPHA:37 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, High, narrow palate, Partial agenesis of the corpus callosum... |
ORPHA:33364 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma |
ORPHA:649929 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Anteverted nares, Periorbital edema, Hydrocephalus, Increased CSF protein concen... |
OMIM:272200 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Failure to thrive, Gastrointestinal hemorrhage, Malabsorption |
ORPHA:79301 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Epicanthus, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Wid... |
ORPHA:1516 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Central Neurocytoma |
|
Nausea and vomiting, Abnormal lateral ventricle morphology, Hydrocephalus, Depression, Tinnitus |
ORPHA:73256 |
Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Chronic diarrhea, Submucous cleft hard palate, Lateral ventricle dilatation, As... |
ORPHA:457279 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Cataract, Telangiectasia of... |
ORPHA:679 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma |
ORPHA:1501 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the nose, Nas... |
ORPHA:2869 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Abnormality of the nose, Abdominal pain, Vasculitis, Optic atrophy, Uvei... |
ORPHA:575 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral in... |
OMIM:613179 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Feeding difficulties in infancy, Nasogast... |
ORPHA:565624 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Periorbital edema, Recurrent infections, Arthritis, Panniculitis,... |
OMIM:617591 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Lateral ventricle dilatation, Pul... |
OMIM:618914 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, ... |
OMIM:175500 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Entropion, ... |
ORPHA:36426 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Skin rash, Allergic rhinitis, Carious teeth, Asthma, Malnutrition, Steatorrhea, Failure to thrive... |
OMIM:612714 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Kabuki Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Protruding ear, High palate, Recurrent aspiration ... |
OMIM:147920 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage, Recurrent infections |
OMIM:300049 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p... |
OMIM:608710 |
Spinocerebellar Ataxia 48 |
|
Irritability, Cachexia, Dysphagia, Depression |
OMIM:618093 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Crouzon Syndrome |
|
Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Conjun... |
OMIM:123500 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis... |
ORPHA:37042 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Temple Syndrome |
|
Decreased testicular size, Wide nose, Anteverted nares, Depressed nasal bridge, Small for gestati... |
OMIM:616222 |
Mosaic Trisomy 1 |
|
Microretrognathia, Depressed nasal bridge, Abnormal pinna morphology, Polyhydramnios, Increased n... |
ORPHA:1692 |
Roifman Syndrome |
|
Lymphadenopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Lymphedema, Overweight, Obesity, Lateral ventricle dilatation, Dysphagia... |
ORPHA:2822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv... |
OMIM:615287 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... |
ORPHA:90308 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge... |
OMIM:618302 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Telecanthus, Anteverted nares, Cachexia, Sparse eyebrow, Abnormal soft... |
ORPHA:884 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal eyelid morphology, Micrognathia, Feeding difficulties in infancy, Anorec... |
ORPHA:567 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nausea, ... |
ORPHA:85450 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Congestive heart failure, Respiratory insufficiency, Feeding difficulties, Arrhythmia |
ORPHA:157973 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Prolonged bleeding time, Recurrent respiratory infections, Lymphedema, Senso... |
ORPHA:3226 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Su... |
OMIM:181270 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... |
ORPHA:449563 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Meningitis, Hydrocephalus, Optic atrophy, Unusual CNS ... |
ORPHA:447788 |
Rheumatic Fever |
|
Nausea and vomiting, Pericarditis, Sinusitis, Epistaxis, Anorexia, Abdominal pain, Myocarditis, R... |
ORPHA:3099 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Prelingual sensorineural hearing impairment, Sepsis, Re... |
ORPHA:477 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Listeriosis |
|
Respiratory distress, Sepsis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, N... |
ORPHA:533 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Conjunctivitis, Edema |
OMIM:603552 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Nausea and vomiting, Transient ischemic attack, CSF pleocytosis, Intracrania... |
ORPHA:140989 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Anteverted nares, Horizontal crus of helix, Highly arched eyebrow, Hearing impairment... |
OMIM:618619 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... |
OMIM:209920 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Feeding difficulties in infancy, Invasive fungal infection, Recurrent myco... |
ORPHA:98813 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Pharyngitis, Maculopapular ex... |
ORPHA:319218 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Dyspnea, Diarrhea, Dehydration, Retrogra... |
ORPHA:230 |
Leukoencephalopathy With Calcifications And Cysts |
|
Emotional lability, Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Dysplastic corpus callosum, Cupped ear,... |
OMIM:619955 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hydrops fetalis, Int... |
ORPHA:85212 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, ... |
ORPHA:1438 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Hydrocephalus, Patent ductus arteriosus, Asthma, Feeding difficulties,... |
OMIM:618162 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Edem... |
ORPHA:77297 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Cleft palate |
ORPHA:398189 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Anteverted nares, Hydrocephalus, Low-set ears |
ORPHA:1532 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy, Furrowed tongue |
OMIM:155900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Entropion, A... |
ORPHA:537 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ... |
OMIM:617296 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... |
ORPHA:95455 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Asthma, Bronchiectasis, Respiratory insufficie... |
OMIM:616037 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Failure to thrive, Cataract, Portal hypertension, Hyd... |
ORPHA:974 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Sepsis, Periorbital fullness, Conjunctivitis, Tricuspid regurgitation, Pate... |
ORPHA:505248 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Vomiting, Protein-losing enter... |
ORPHA:79319 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Recurren... |
OMIM:601495 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Microretrognathia, Depressed nasal bridge, Vascular dilatation, Hydroce... |
OMIM:220220 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus |
OMIM:619302 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Cataract, Recurrent infections, Hypoglycorrhachia, Macrotia, Zonular... |
ORPHA:168577 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, ... |
OMIM:604571 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Edema, Abdominal pain, Minimal change glomerulonephritis, Periorbital edema, Peritonitis, Irritab... |
ORPHA:656 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Delayed eruption of primary teeth, Dilated cardiomyopathy, Lacrimal... |
OMIM:300952 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventr... |
OMIM:304100 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Abnormal retinal vascular morphology, Raynaud ... |
ORPHA:247691 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Malabsorption, Anorexi... |
ORPHA:98850 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Recurrent respiratory infections, Sparse eyelashes, Depressed nasal bridge, Absen... |
OMIM:614941 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Hearing impairment, Optic atrophy, Corneal scarring, H... |
OMIM:610965 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Polyhydramnios, Underdeveloped nasal alae, Micrognathia, Recurrent pneumonia... |
OMIM:614098 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Wide nasal bridge, Cardiomyopathy, Lateral ventricle dilatation, High p... |
ORPHA:572798 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Infantile Sialic Acid Storage Disease |
|
Epicanthus, Anteverted nares, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Ascites, ... |
OMIM:269920 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abscess, Abnormality o... |
ORPHA:400 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Angina pectoris, Cachexia, Micrognathia, Abnor... |
ORPHA:109 |
Aicardi Syndrome |
|
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... |
OMIM:304050 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Meningiti... |
ORPHA:117 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Cachexia, Micrognath... |
ORPHA:371364 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastriti... |
ORPHA:809 |
Agammaglobulinemia, X-Linked |
|
Sepsis, Conjunctivitis, Meningitis, Infectious encephalitis, Enteroviral hepatitis, Epididymitis,... |
OMIM:300755 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed... |
ORPHA:2483 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Failure to thrive, Cataract, Small for gestational a... |
OMIM:619869 |
Angioedema, Hereditary, 4 |
|
Facial edema, Laryngeal edema, Angioedema |
OMIM:619360 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage, Pedal edema |
ORPHA:84090 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Abdominal symptom, Cataract, Dyspnea, Chronic mucocutaneous candidiasis, D... |
ORPHA:36913 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy, Sensorineural hearing impairment |
OMIM:616084 |
Oculopharyngodistal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Oral-phary... |
ORPHA:98897 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Mulibrey Nanism |
|
Wide nasal bridge, Cachexia |
ORPHA:2576 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Depressed nasal bridge, Cachexia, Abdominal pain,... |
ORPHA:79076 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Epicanthus, Sinusitis, Anal stenosis, Choanal atresia, Recurrent uri... |
OMIM:251260 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted nares, Wide nasal bridge, Mic... |
OMIM:311900 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Cerebral hemorrhage, Nausea, Congestive heart failu... |
ORPHA:276621 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... |
OMIM:162260 |
Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Sensorineural hearing impairment, Dehydration, Arthritis, Co... |
ORPHA:47045 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Increased CSF lactate, Feeding difficulties, Colpocephaly, Increase... |
OMIM:616034 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi... |
ORPHA:99147 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Asthma, Diarrhea, ... |
OMIM:617321 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Stroke, Arrhythmia, Spina bifida occulta... |
ORPHA:230839 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Micrognathia, Vascular dilatation, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Perior... |
OMIM:613177 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Patent ductus arteriosus, Nasogast... |
OMIM:106260 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi... |
OMIM:614868 |
Muckle-Wells Syndrome |
|
Maculopapular exanthema, Conjunctivitis, Recurrent aphthous stomatitis, Progressive sensorineural... |
OMIM:191900 |
Moynahan Syndrome |
|
Sensorineural hearing impairment, Hypogonadism, Cachexia |
ORPHA:2574 |
Williams Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Micrognathia, Periorbital edema, Re... |
ORPHA:904 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Cataract, Recurrent skin infections, Ectropion, Predominantly... |
ORPHA:33001 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, High, narrow palate, Synophrys, Hydrocephalus, Ileus, Narrow palpebral fissure, Col... |
OMIM:620156 |
Whim Syndrome |
|
Pharyngitis, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lym... |
ORPHA:51636 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Infectious encephalitis, Ventric... |
ORPHA:2481 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Anteverted nares, Partial agenesis of the corpus callosum, Macrotia... |
OMIM:234050 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Agenesis of corpus callosum, Dandy-Walker malformation, Depressed nasal bridge, Pate... |
OMIM:612582 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalus, Patent duc... |
ORPHA:171839 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Arteria lusoria, Protruding ear, Gastroesophageal reflux, Recurrent a... |
ORPHA:221139 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Edema, Pulmonary embolism, Abdominal pain, Minimal change glomerulonephritis, Peritonitis, Perior... |
ORPHA:567548 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Eczema, Malabsorption, Pyloric stenosis, Meningitis,... |
ORPHA:379 |
Cowden Syndrome 1 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydroce... |
OMIM:158350 |
Nocardiosis |
|
Respiratory distress, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Vomit... |
ORPHA:31204 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Keratoconjun... |
ORPHA:91138 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... |
OMIM:610644 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hyperammonemia, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic s... |
OMIM:615486 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Tracheoesophageal fistula, Respiratory insuffic... |
ORPHA:93941 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Apnea, Anorexia, Polyhydramnios, Intracranial hemorrhage, Irrit... |
OMIM:241500 |
Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,... |
ORPHA:99827 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cataract, Cachexia, Underdeveloped nasal ala... |
ORPHA:217346 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Almond-shaped palpebral fissure, Optic atrophy, Feeding difficulties, Irritabi... |
OMIM:620352 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Ventriculomegaly... |
ORPHA:1933 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Cataract, Polyhydramnios, Abdominal distention, Diarrhea, Weight loss, Decre... |
OMIM:620045 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Optic atrophy, Developmental cataract, Lateral ventricle dilatat... |
OMIM:613154 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Retinal telangiectasia, Micrognathia, Periorbital fullness, Conductive hea... |
OMIM:620155 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Ectopia lentis, Feedin... |
OMIM:616914 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Cryptorchidism, Abnormal location of e... |
OMIM:218350 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype... |
ORPHA:20 |
Fried Syndrome |
|
Hydrocephalus, Macrotia, High palate, Hearing impairment |
ORPHA:85335 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Bone-marrow foam cells, Abdominal distention, Malnutrition, Esopha... |
ORPHA:75233 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Sepsis, Dehydration, Weight... |
ORPHA:33355 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Carious teeth, Cryptorchidism, H... |
ORPHA:2701 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Anteverted ears, Bilateral cryptorchidism, Conjuncti... |
OMIM:616268 |
Propionic Acidemia |
|
Apnea, Eczema, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhage, Tachypnea, ... |
OMIM:606054 |
Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Elevated fecal osmolality, Secretory diarrhea, Dehydration, Vomiting, Optic disc... |
ORPHA:92050 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r... |
ORPHA:93672 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia, Focal T2 ... |
OMIM:613724 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O... |
ORPHA:1528 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Feeding difficulties in infancy, Synophrys, Depressed nasal ridge, Gastroesophageal reflux, High ... |
OMIM:607872 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... |
OMIM:613501 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Failure to thrive, Narrow nasal ridge, Hydrocephalus, Bulbous nose, ... |
OMIM:612940 |
Trisomy 18 |
|
Microcornea, Pointed helix, Holoprosencephaly, Iris coloboma, Microretrognathia, Low-set, posteri... |
ORPHA:3380 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Bowel incontinence, Opt... |
ORPHA:702 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Hydrocephalus, Cleft palate, Tu... |
ORPHA:459061 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, De... |
ORPHA:1452 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Al Amyloidosis |
|
Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormal auton... |
ORPHA:85443 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Abnormal nerve... |
ORPHA:93474 |
Weaver Syndrome |
|
Mandibular prognathia, Epicanthus, Depressed nasal bridge, Cryptorchidism, Patent ductus arterios... |
OMIM:277590 |
Greig Cephalopolysyndactyly Syndrome |
|
Telecanthus, Wide nasal bridge, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:380 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Sepsis, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, H... |
ORPHA:49566 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Sparse eyelashes, Eczema, Depressed nasal bridge, Underdeve... |
OMIM:305100 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second... |
OMIM:219700 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Wheezing, Diarrhea, Malnutrition, Vomiting, Hypotens... |
ORPHA:79456 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Epicanthus, Failure to thrive, Hydrocephalus, Patent ductus arteriosus, Optic ... |
OMIM:614576 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Vasculitis, Dia... |
ORPHA:343 |
Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal pituitary gland morphology, Agenesis of corpus callosum, Abnormal hypotha... |
ORPHA:314621 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Cerebral hemorrhage, Gastrostomy tube feeding in inf... |
OMIM:620278 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion |
ORPHA:411777 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Anteverted nares, Posteriorly rotated ears, Facial hypotonia, Micrognathia, Synophrys, Bulbous no... |
OMIM:619320 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... |
OMIM:162210 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Hemophilia B |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydr... |
OMIM:109120 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Arachnoid Cyst |
|
Encephalocele, Ptosis, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, P... |
ORPHA:2356 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Xerostomia, Keratoconjunctivitis ... |
ORPHA:238468 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Upslanted palpebral fissure, High palate... |
OMIM:300558 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age |
OMIM:619278 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Hydrocephal... |
ORPHA:261344 |
Angioedema, Hereditary, 7 |
|
Facial edema, Angioedema |
OMIM:619366 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Cerebral hemorrhage, Nausea, Congestive heart failu... |
ORPHA:29072 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Carious teeth, Folliculitis, Conjunctiviti... |
OMIM:612843 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Hypothalamic hamartoma, Short nos... |
OMIM:241800 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Small for gestational age, Allergic rhinitis, Esophageal ulceration, Recurrent viral in... |
OMIM:176690 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
3C Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High, narrow palate, Gastroesophageal reflux, Iris... |
ORPHA:7 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili... |
OMIM:610852 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... |
ORPHA:1133 |
B4Galt1-Cdg |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Small for gestational age, Edema, Hydroc... |
ORPHA:79332 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal ... |
ORPHA:29207 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... |
OMIM:277450 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Biotinidase Deficiency |
|
Respiratory distress, Skin rash, Apnea, Optic neuropathy, Recurrent viral infections, Hearing imp... |
ORPHA:79241 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Sinusitis, Recurrent upper respiratory tract infections, Macroglossia, Opacifi... |
ORPHA:583 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Short nose, Cachexia |
ORPHA:1389 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... |
ORPHA:340 |
Kawasaki Disease |
|
Edema, Conjunctivitis, Cholecystitis, Meningitis, Abdominal pain, Recurrent pharyngitis, Vasculit... |
ORPHA:2331 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Protrud... |
ORPHA:500150 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Telecanthus, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Mitral regurgitation |
ORPHA:83473 |
Infant Botulism |
|
Ptosis, Cardiac arrest, Bowel incontinence, Anorexia, Respiratory insufficiency due to muscle wea... |
ORPHA:178478 |
Fg Syndrome Type 1 |
|
Prominent nose, Micrognathia, Gastroesophageal reflux, High palate, Abnormal social behavior, Mal... |
ORPHA:93932 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Posteriorly rotated ears, Long nose, Synophrys, Partial agenesis o... |
OMIM:620113 |
Fountain Syndrome |
|
Facial edema, Sensorineural hearing impairment |
OMIM:229120 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... |
OMIM:615688 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Feeding difficulties in infancy, Crypto... |
ORPHA:90322 |
Lowry-Maclean Syndrome |
|
Abnormality of the supraorbital ridges, Micrognathia, Hypoplasia of the maxilla, High, narrow pal... |
ORPHA:2409 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Feeding difficulties in infancy, Anteriorly placed anus, Choanal stenosis, ... |
OMIM:123790 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Specific Granule Deficiency 2 |
|
Abnormal pinna morphology, Posteriorly rotated ears, Simple ear, Recurrent pneumonia, Sepsis, Rec... |
OMIM:617475 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Hogue-Janssen Syndrome 2 |
|
Anteverted nares, Facial hypotonia, Hydrocephalus, Chronic constipation, Downslanted palpebral fi... |
OMIM:616362 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:1144 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Cataract, Small for gestational age, Malabsorption, Asthma, Chronic diarr... |
OMIM:601675 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Cryptorchidism, Di... |
ORPHA:261250 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Agenesis of corpus callosum, Dandy-Walker malforma... |
OMIM:257300 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Agenesis of corpus callosum, Absent eyebrow,... |
ORPHA:2273 |
Desmosterolosis |
|
Micrognathia, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ears, Depres... |
ORPHA:35107 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Ventriculomegaly, Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydr... |
ORPHA:1812 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Polyhydramnios, Seborrheic dermatitis, Micrognathia, La... |
OMIM:300868 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Respiratory insufficiency, Feeding di... |
OMIM:613153 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Periorbital edema, Weight loss, Progressive hearing impairment, Exertional dyspnea |
ORPHA:514 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Gastroparesis, Int... |
ORPHA:1876 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Cataract, Depressed nasal bridge, Telangiectasia of the skin, Infra-orbita... |
OMIM:616007 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble... |
OMIM:308800 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment |
OMIM:120100 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficien... |
ORPHA:93262 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Protruding ear, Anteverted nares, Ptosis |
OMIM:618731 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Vascu... |
OMIM:277175 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... |
OMIM:608184 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Cataract, Delayed eruption of primary... |
ORPHA:90321 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Nausea and vomiting, Eczema, Anorexia, Tachypnea, Keratoconjunctivitis, Wei... |
ORPHA:79242 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,... |
OMIM:106100 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Respirator... |
ORPHA:779 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Recurrent pneumonia, Optic atrophy, Lateral ventricle dilatation, Optic nerve comp... |
OMIM:612301 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Conductive hea... |
ORPHA:87 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Diarrhea, Hydrocephalus, Ascites, Ventriculomegaly, Hearing impairment |
ORPHA:858 |
Flynn-Aird Syndrome |
|
Cataract, Cachexia, Carious teeth, Progressive sensorineural hearing impairment, Atherosclerosis |
ORPHA:2047 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocepha... |
ORPHA:1914 |
Monosomy 13Q34 |
|
Epicanthus, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Prominent nose, Broad na... |
ORPHA:96168 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia, Exertional dyspnea |
ORPHA:42 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Downslanted palpebral fissures, Agenesis of cor... |
OMIM:175700 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morpholog... |
ORPHA:2180 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Failur... |
OMIM:263400 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Synophrys, Hydrocephalus, Resp... |
ORPHA:1895 |
Stromme Syndrome |
|
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Prominent nasal bridge, Microgna... |
OMIM:243605 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Ambiguous genitalia, Hypospadias, Clitoral h... |
ORPHA:90797 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Polyhydramnios, Neonatal asphyxia, Asthma, Erythroderma |
OMIM:608649 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Dehydration, Vomiting, Abdominal pain, Hypovo... |
ORPHA:275761 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Pachygyria, Abnormal thalamus morphology, Agyria, Dysgyria |
ORPHA:467166 |
Meningioma |
|
Nausea and vomiting, Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Cerebral hemorrhag... |
ORPHA:2495 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Hy... |
ORPHA:667 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Epicanthus, Wide nasal bridge, Recurrent infections, Hypertension, Lateral... |
OMIM:300896 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Feeding difficulties, Low... |
OMIM:610333 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ... |
ORPHA:217390 |
Ciliary Dyskinesia, Primary, 10 |
|
Chronic otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Severe viral infection, Bronc... |
ORPHA:79128 |
Halperin-Birk Syndrome |
|
Hearing impairment, Micrognathia, Optic atrophy, Developmental cataract, Colpocephaly, Pseudobulb... |
OMIM:618651 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Neonatal respirato... |
ORPHA:666 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Highly... |
ORPHA:220497 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Polyhydramnios, Cachexia, Micrognathia, Wide nasal bridge |
ORPHA:2774 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Retinal hamartoma,... |
ORPHA:538 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Cataract, Esophageal stricture, Malnutrition, Corneal scarrin... |
OMIM:226600 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Hematemesis, Pr... |
ORPHA:274 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... |
ORPHA:169105 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome... |
OMIM:614120 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Hepa... |
ORPHA:728 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Depressed nasal bridge, Posteriorly rotated ears, Wide nasal bridg... |
OMIM:619479 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Skin rash, Acne, Sudden cardiac death, Abnormal cerebral vascular mo... |
ORPHA:758 |
1Q44 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Intestinal malrotation, Micrognathia, Synophrys, Hydrocephalus, Upslante... |
ORPHA:238769 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Menometrorrhagia, Epistaxis, Abnormal d... |
ORPHA:79430 |
Gonadoblastoma |
|
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... |
ORPHA:206484 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... |
ORPHA:158057 |
Hemidystonia-Hemiatrophy Syndrome |
|
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology |
ORPHA:306741 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Dentinogenesis imperfecta |
OMIM:616507 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Polyhydramnios, Micrognathia, Cryptorchidism, Hydrocephalus, S... |
ORPHA:2189 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Recurrent pneumonia |
OMIM:619750 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Optic atrophy |
OMIM:619470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Developmental cataract, Abnormal left ventricular function, Cardiomy... |
OMIM:613155 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Delayed eruption of teeth, Abdominal symptom, Cataract, Depressed nasal br... |
ORPHA:79444 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea |
OMIM:133100 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Recurrent ... |
ORPHA:64743 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia, Hydrocephalus, Optic atrophy, Arteriosclerosis, Hearing impairment |
ORPHA:220295 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Dehydration, Tubulointerstitial nephritis, Cardiomyo... |
OMIM:251000 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Epicanthus, Depressed nasal bridge, Hydrocephalus, Large earlobe, Downslanted palpebral fissures,... |
OMIM:602501 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Facial palsy, Edema, Bilateral ptosis, Xerostomia, Bruising susceptibil... |
ORPHA:85448 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Micrognathia, Lymphede... |
OMIM:153400 |
Alexander Disease |
|
Nausea and vomiting, Facial palsy, Sudden cardiac death, Bowel incontinence, Aqueductal stenosis,... |
ORPHA:58 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Panuveitis, Panniculitis, Optic neuritis |
OMIM:301081 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma |
ORPHA:330064 |
Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Micrognathia, Hydrocephalus, Double outlet right ventricle, Cleft palate,... |
OMIM:220210 |
Witteveen-Kolk Syndrome |
|
Uplifted earlobe, Polyhydramnios, Feeding difficulties in infancy, High, narrow palate, Protrudin... |
OMIM:613406 |
Desmosterolosis |
|
Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, P... |
OMIM:602398 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal... |
ORPHA:2655 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na... |
ORPHA:647 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cataract, Chronic active hepatitis, Premature ovarian insufficiency, Female h... |
OMIM:240300 |
Bresek Syndrome |
|
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Cry... |
ORPHA:85284 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum |
OMIM:619111 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus, Constipation, Malar flattening, Ptosis |
ORPHA:52503 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Nausea, Abdominal pain, Increased body weight, Prolonged pr... |
ORPHA:244242 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal alae, Bilateral ptosis, Hydroceph... |
ORPHA:163979 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Edema, Seborrheic dermatitis, Mal... |
ORPHA:2796 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
Schwartz-Jampel Syndrome |
|
Apnea, Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Microcornea, High palate, L... |
ORPHA:800 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly,... |
ORPHA:370959 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Epicanthus, Low-set, posteriorly rotated ears, Micrognathia... |
ORPHA:1908 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus... |
OMIM:614886 |
Takayasu Arteritis |
|
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Anorexia, Vasculitis... |
ORPHA:3287 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Reduced progressive sperm motility, Decreased nasal nitric oxide, Chronic... |
OMIM:619608 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Polyhydramnios, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Pte... |
OMIM:225790 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Micrognathia, Weight loss, Convex nasal ridge, Atherosclerosis |
ORPHA:1979 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Keratitis, Bilateral cryptorchidism, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:278800 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough, Severe recurr... |
ORPHA:276 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, I... |
ORPHA:93274 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Kleeblattschaedel |
|
Hydrocephalus, Recurrent corneal erosions |
OMIM:148800 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Abnormality of the gastrointestinal tract, Sinusitis, Skin rash, Pneum... |
ORPHA:811 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prominent nose, Micrognathia, Partial agenesis of the corpus callosum, Gastroesophageal reflux, A... |
OMIM:210710 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Chronic diarrhea, Stea... |
ORPHA:3217 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Juvenile Nasopharyngeal Angiofibroma |
|
Nasal congestion, Facial edema, Juvenile colonic polyposis, Epistaxis |
ORPHA:289596 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft pala... |
OMIM:263520 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Raynaud p... |
ORPHA:1855 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Anteverted nares, Posteriorly... |
ORPHA:3309 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Cerebral hemorrhage, Micrognathia, Hearing impairment, Conductive hearing impairment,... |
ORPHA:536545 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Vomiting, Failure to thrive, I... |
OMIM:245200 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... |
ORPHA:902 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations, Abnormal autonomic ... |
OMIM:133020 |
Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
6P22 Microdeletion Syndrome |
|
Epicanthus, Patent ductus arteriosus, Hydrocephalus, Low-set ears, Overfolded helix, Hearing impa... |
ORPHA:251046 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Lymphedema... |
ORPHA:1414 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Telecanthus, Epicanthus, Ventriculomegaly, Posteriorly rotated ears, Patent ductus arteriosus, Re... |
OMIM:617260 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Hydrocephalus, Sensorin... |
ORPHA:2072 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infanc... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infanc... |
ORPHA:353277 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Highly... |
ORPHA:220493 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... |
OMIM:192315 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in ... |
OMIM:606367 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Rec... |
OMIM:614379 |
Choanal Atresia |
|
Subglottic stenosis, Respiratory distress, Recurrent respiratory infections, Upper airway obstruc... |
ORPHA:137914 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Aplasia/Hypoplasia involving the nose, Polyhydramnios, Micrognat... |
ORPHA:3301 |
Peho Syndrome |
|
Recurrent respiratory infections, Epicanthus, Anteverted nares, Palpebral edema, External ear mal... |
ORPHA:2836 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Aganglionic megacolon, Posteriorly rotated ears, Highly arched eyebrow, Br... |
OMIM:239300 |
Vici Syndrome |
|
Micrognathia, Recurrent viral infections, High palate, Agenesis of corpus callosum, Median cleft ... |
OMIM:242840 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Arterioven... |
ORPHA:1059 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Igg4-Related Pachymeningitis |
|
Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Lymphade... |
ORPHA:449427 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Cryptorchidism, Trache... |
ORPHA:77298 |
Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Delayed eruption of teeth, Abdominal symptom, Cataract, Depressed nasal br... |
ORPHA:79443 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteos... |
OMIM:300373 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Extrapulmonary tuberculosis, Severe infection, Vasculitis, Arteriosclero... |
ORPHA:494424 |
Medulloblastoma |
|
Nausea and vomiting, Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Irritab... |
ORPHA:616 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Palpebral edema, Depressed nasal bridge, Bulbous nose, Feeding... |
ORPHA:261144 |
Immunodeficiency 12 |
|
Skin rash, Recurrent viral infections, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent... |
OMIM:615468 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyelash morphology, Abnormal eyebrow morphology, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Feeding difficulties, Cervical myelopathy, Dysphag... |
OMIM:207950 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Feeding difficulties in infan... |
OMIM:253260 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Cachexia, Prominent nose, Synophrys, Obesity, Abnormal earlobe morphology, High palat... |
ORPHA:85293 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Thrombocytosis, Hepatic ste... |
OMIM:212065 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Facial palsy, ... |
OMIM:310400 |
Pfapa Syndrome |
|
Nausea and vomiting, Malabsorption, Abdominal pain, Recurrent pharyngitis, Weight loss, Arthritis... |
ORPHA:42642 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Hydrocephalus, Fusion of the left... |
ORPHA:59315 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Depressed nasal bridge, Bowel incontinence, C... |
OMIM:616482 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Malabsorption, Fe... |
ORPHA:3463 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Recurrent bacterial infections... |
ORPHA:182 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux,... |
OMIM:115150 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Ventriculomegaly, Hydrocephalus, Bulbous nose, Optic atrophy, Craniofacial osteoscler... |
OMIM:618476 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Osteoarthritis, Depress... |
ORPHA:828 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, Choanal stenosi... |
OMIM:602535 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Houge-Janssens Syndrome 1 |
|
Facial hypotonia, Pyloric stenosis, Hydrocephalus, Chronic diarrhea, Downslanted palpebral fissur... |
OMIM:616355 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Hearing impairment, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutan... |
OMIM:158310 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Epiblepharon, Feeding difficulties, Irritability, Lateral ventricle dilatation, Dysphagia, Thick ... |
OMIM:618367 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Micrognathia, Cryptorc... |
ORPHA:813 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Failure to thrive, Anteverted nares, Protruding tongue, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:612938 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Nausea, Intracranial hemorrhage, Hypertension, Tinnitus |
ORPHA:403 |
Trisomy 17P |
|
Wide nose, Cataract, Hearing impairment, Prominent nose, Micrognathia, Hydrocephalus, Patent duct... |
ORPHA:261290 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Obesity, Azoospermia |
ORPHA:2183 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, S... |
ORPHA:79282 |
Temple Syndrome |
|
Small for gestational age, Feeding difficulties in infancy, Cryptorchidism, Hydrocephalus, Obesit... |
ORPHA:254516 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171420 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po... |
ORPHA:97280 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tachypnea, Ventricular tachycardia, Atrioventricular block, Vomit... |
ORPHA:137675 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Gastroesophageal reflux, Constipation, Abnormal T... |
OMIM:312750 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Facial palsy, Mandibular osteomyelitis, Carious teeth, Osteoarthritis, Hydrocephal... |
ORPHA:53 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Aqueductal stenosis, Protruding ear, Gastroesophageal reflux, Neonatal dea... |
OMIM:619534 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurre... |
OMIM:618204 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Infra-orbital crease, Prominent nasal bridge, Increased nuchal translucency, Fetal intraventricul... |
OMIM:618480 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Synophrys, Partial agenesis of the corp... |
OMIM:619512 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Clouston Syndrome |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis |
OMIM:129500 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Transketolase Deficiency |
|
Cataract, Abnormal coronary artery course, Seborrheic dermatitis, Patent ductus arteriosus, Uveit... |
ORPHA:488618 |
African Trypanosomiasis |
|
Conjunctivitis, Vomiting, Iritis, Nausea, Papilledema, Abnormal EKG, Myelitis, Abnormality of the... |
ORPHA:3385 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal base, Wide nasal bridge, Obesity |
OMIM:616521 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, High palate, Shallo... |
ORPHA:740 |
Biemond Syndrome Ii |
|
Hydrocephalus, Iris coloboma |
OMIM:210350 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Cryptorchidism, Hydrocephalus, Bulbous nose, Patent ductus arteriosus, Wide... |
ORPHA:250989 |
Lissencephaly 5 |
|
Occipital encephalocele, Cataract, Hydrocephalus, Optic atrophy, Hearing impairment |
OMIM:615191 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Purpura |
OMIM:613496 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Hydrops fetalis, Coarctation of aorta, Ey... |
ORPHA:268249 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly |
ORPHA:2570 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of cell cycl... |
OMIM:227650 |
Semilobar Holoprosencephaly |
|
Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Depressed nasal ridge, Single naris, Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Hig... |
ORPHA:93924 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Apnea, Broad nasal tip, Micrognathia, Cryptorchidism, Synophrys, Hydrocephalus, Optic... |
OMIM:614969 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Nausea, Intracranial hemorrhage, Hypertension, Tinnitus |
ORPHA:404 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abdo... |
ORPHA:91387 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Protruding tongue, Dilated cardiomyopathy, Socially inappropria... |
ORPHA:2388 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Gorlin Syndrome |
|
Mandibular prognathia, Epicanthus, Cataract, Telecanthus, Hypogonadotropic hypogonadism, Carious ... |
ORPHA:377 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Sensorineural hearing impairment, Conjunctivitis, Erythroderma, Failure to thrive |
OMIM:242150 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Female hypogonadism, Chronic diarrhea, Bronchiectasis, Ab... |
OMIM:208900 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, ... |
ORPHA:1555 |
Superficial Siderosis |
|
Abnormal bleeding, Enlarged sylvian cistern, Partial anosmia, Abnormal cerebrospinal fluid morpho... |
ORPHA:247245 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Microtia, Constipation... |
ORPHA:1834 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Intestinal pseudo-obstruction, Hearing impairment, Conges... |
OMIM:309900 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Lacrimal duct stenosis, Carious teeth, Periorbital d... |
OMIM:615560 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Papillary Tumor Of The Pineal Region |
|
Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration, Abnormal eyelid morphology |
ORPHA:251915 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hypoplastic nasal s... |
OMIM:610828 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Specific Granule Deficiency 1 |
|
Neutrophil nuclear clefts, Recurrent bacterial infections |
OMIM:245480 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Prominent nose, Erythema nodosum, Congestive heart failure, Macrotia, Epididymitis,... |
OMIM:256040 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Ventriculomegaly |
ORPHA:272 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Delayed eruption of teeth, Abdominal symptom, Cataract, Depressed nasal br... |
ORPHA:94089 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy... |
ORPHA:50251 |
Marfan Syndrome |
|
Micrognathia, High, narrow palate, Hypoplasia of the iris, Emphysema, Slender build, Dilatation o... |
ORPHA:558 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Weight lo... |
ORPHA:26790 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Oculoskeletodental Syndrome |
|
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Abnormal... |
ORPHA:557003 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, As... |
OMIM:619377 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis |
OMIM:619607 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... |
ORPHA:201 |
Apert Syndrome |
|
Mandibular prognathia, Choanal stenosis, Shallow orbits, Chronic otitis media, Agenesis of corpus... |
OMIM:101200 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Oral-pharyngeal dysphagia, Neoplasm of the larynx, Weight loss, Exertional dyspnea |
ORPHA:100083 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Sensorineural hearing impairment, Telangiectasia, Keratoconjuncti... |
OMIM:278730 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Irritability, Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Cataract, Anorexia, Pulmonary embolism, Ectopia lentis, Optic atroph... |
ORPHA:394 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Micrognathia, Venous insufficien... |
ORPHA:565 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Tinnitus, Nausea |
ORPHA:251274 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... |
OMIM:619632 |
Alexander Disease |
|
Microcoria, Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Wheez... |
OMIM:615707 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephal... |
OMIM:618590 |
Cardiofaciocutaneous Syndrome |
|
Lymphedema, Feeding difficulties in infancy, High palate, Thickened helices, Low-set, posteriorly... |
ORPHA:1340 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... |
OMIM:617967 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Igg4-Related Submandibular Gland Disease |
|
Pharyngitis, Cholangitis, Facial edema, Periorbital edema, Xerostomia, Enlarged lacrimal glands, ... |
ORPHA:449432 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Nausea, Diarrhea, Hepatitis, Ab... |
ORPHA:90062 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... |
ORPHA:163596 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, Highly arched e... |
OMIM:619951 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ... |
OMIM:620370 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Pyloric stenosis, Hydroc... |
ORPHA:381 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Polyhydramnios, Decreased nerve conduction velocity, Subdural hemorrha... |
OMIM:615368 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Lymphedema, Protruding ear, Gastroesophageal reflux, High palate, Patent ductus art... |
OMIM:606232 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr... |
OMIM:301043 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, High palate, Agenesis of corpus callosu... |
ORPHA:314585 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:187900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, High palate, Otitis media, Perianal abscess, Cryptorchidism, Patent ductus arteriosus, Wi... |
OMIM:612541 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Feeding difficulties in infancy, Wheezing, ... |
ORPHA:171876 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus, Macrotia |
OMIM:300886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Developmental cataract |
ORPHA:324416 |
Alkuraya-Kucinskas Syndrome |
|
Cataract, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Edema... |
OMIM:617822 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C... |
ORPHA:411703 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Edema, Protruding tongue, Hydrocephalus, Optic atrophy, ... |
ORPHA:93400 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Optic disc pallor, Failure to thrive, Narrow nasal ridge, Highly arched ey... |
OMIM:620083 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Cataract, Depressed nasal bridge, Hydrocephalus, Cleft palate |
ORPHA:2635 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Chronic ... |
OMIM:615895 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal... |
ORPHA:93259 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Hepatic failure,... |
OMIM:615207 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy |
OMIM:618174 |
Holoprosencephaly |
|
Feeding difficulties in infancy, Synophrys, Depressed nasal ridge, Absent nares, Gastroesophageal... |
ORPHA:2162 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Recurrent skin infections, Epistaxis, Sepsis, Recurrent bacterial infections, ... |
OMIM:612840 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Cerebral ischem... |
ORPHA:60040 |
Trisomy 8P |
|
Conductive hearing impairment, Agenesis of corpus callosum, Bifid uvula, Heterochromia iridis, Da... |
ORPHA:264450 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastr... |
ORPHA:508488 |
Keutel Syndrome |
|
Sinusitis, Depressed nasal bridge, Cartilaginous ossification of nose, Cartilaginous ossification... |
OMIM:245150 |
Monosomy 18Q |
|
Mandibular prognathia, Prominent nose, Bilateral cryptorchidism, Choanal stenosis, High palate, D... |
ORPHA:1600 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Trichiasis, Highly arche... |
OMIM:618460 |
Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Carious teeth, Cupped ear, Lacrimal duct atresia, Lacrimal duct aplasia,... |
OMIM:620192 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Sensorineural hearing impairment, Single ... |
OMIM:615636 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Vomiting, Dehydration |
OMIM:243500 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Recurrent herpes, Skin rash, Lymphedema, Venous insuff... |
ORPHA:33276 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Cholangiocarcinoma, Recurrent urinary tract infecti... |
ORPHA:731 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Triploidy |
|
Low-set, posteriorly rotated ears, Cataract, Intestinal malrotation, Polyhydramnios, Micrognathia... |
ORPHA:3376 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... |
OMIM:610984 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Coiled sperm flagella, Recurr... |
OMIM:620197 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy |
OMIM:619057 |
Opitz-Kaveggia Syndrome |
|
Epicanthus, Anal stenosis, Choanal atresia, Intestinal malrotation, Prominent nose, Micrognathia,... |
OMIM:305450 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal brid... |
OMIM:147791 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Optic Pathway Glioma |
|
Papilledema, Hydrocephalus, Optic atrophy, Vomiting, Nausea |
ORPHA:2086 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... |
OMIM:167730 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Abnormal pupil morphology, Microcorne... |
ORPHA:261552 |
Hydranencephaly |
|
Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morp... |
ORPHA:2177 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Feeding difficulties in infancy, High palate, Agenesis of corpus callosum, Tricuspi... |
OMIM:614866 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Optic atrophy, Sensorineural hearing impairment |
ORPHA:99947 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Simplified gyral pattern |
OMIM:619072 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cou... |
ORPHA:520 |
Dubowitz Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... |
ORPHA:235 |
Joubert Syndrome |
|
Encephalocele, Anteverted nares, Aganglionic megacolon, Highly arched eyebrow, Prominent nasal br... |
ORPHA:475 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorineural hearing ... |
OMIM:615249 |
Giant Cell Arteritis |
|
Anorexia, Gastrointestinal infarctions, Cough, Conductive hearing impairment, Meningitis, Abdomin... |
ORPHA:397 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:616682 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Recurrent skin infections, Predominantly lower limb lymphedema, Edema of the dorsu... |
ORPHA:568051 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Hyd... |
OMIM:601499 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Aplasia of the nasal bone, Jejunal atresia, Streak ovary, Ileal atresia, Micrognathia... |
OMIM:618820 |
Developmental And Epileptic Encephalopathy 49 |
|
Thick eyebrow, Ventriculomegaly, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Optic... |
OMIM:617281 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly |
ORPHA:2165 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Cataract, Corneal opacity, Posteriorly rotated ears, Cryptorchidism, Hydrocepha... |
ORPHA:899 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Adenohypophysitis |
|
Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, De... |
ORPHA:95512 |
Sunct Syndrome |
|
Ptosis, Palpebral edema, Facial edema, Nasal congestion, Vomiting, Conjunctival hyperemia, Nausea... |
ORPHA:57145 |
Cockayne Syndrome |
|
Feeding difficulties in infancy, Retinal arteriolar constriction, Lentiglobus, Gastroesophageal r... |
ORPHA:191 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ectropion |
OMIM:278750 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Overweight, Feeding difficulties in infancy, Asthma, Hydrocephalus, Chronic di... |
ORPHA:500055 |
Panhypophysitis |
|
Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, De... |
ORPHA:95513 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, High palate, Spina bifida, Aplasia/Hypoplasia of the uv... |
ORPHA:84 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... |
OMIM:616576 |
Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Facial capillary hemangioma, Partial agenesis of the corpus callosum, Gastrointesti... |
OMIM:270400 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Depressed nasal bridge, Congestive heart fa... |
OMIM:225400 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Short columella, Hypothalamic h... |
OMIM:619775 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Hypoplasia of the epiglottis, Conductive hearing impairment, Abnormal s... |
ORPHA:2363 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig... |
ORPHA:913 |
Idiopathic Congenital Hypothyroidism |
|
Depressed nasal bridge, Feeding difficulties in infancy, Facial edema, Macroglossia, Constipation... |
ORPHA:95717 |
Cerebrooculonasal Syndrome |
|
High palate, Conductive hearing impairment, Iris coloboma, Dandy-Walker malformation, Encephaloce... |
OMIM:605627 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Gastroesophageal reflux, Aspiratio... |
ORPHA:354 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Dilation of Virchow-Robin spaces, Small for gestat... |
ORPHA:261311 |
L1 Syndrome |
|
Nausea and vomiting, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Depression |
ORPHA:275543 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Abnormal aortic arch mor... |
ORPHA:2306 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Hypoplasia of ... |
ORPHA:169090 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Keratitis, Sensorineural hearing impairment, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278700 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Abdominal pain, Abnormal ... |
ORPHA:100050 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Spina b... |
OMIM:613776 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neurodegeneration |
OMIM:620210 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278740 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Highly... |
ORPHA:2318 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Hydroc... |
ORPHA:398124 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Agenesis of corpus callosum, Iris col... |
ORPHA:261537 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Sclerocornea, Junctional ectopic tachycardia, Hydrocephalus, Cleft pa... |
OMIM:309801 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Spi... |
ORPHA:1926 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Polyhydramnios, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydrocephalus, W... |
OMIM:612651 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Intracranial hemorrhage, Abnormality of the sphenoi... |
ORPHA:91350 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:617672 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Convex nasal ridge, Posteriorly rotated ears, Micrognathia, Cryptorchidis... |
OMIM:241410 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Chronic Hiccup |
|
Dehydration, Weight loss, Malnutrition, Depression |
ORPHA:396 |
Plague |
|
Respiratory distress, Chapped lip, Glossitis, Anorexia, Edema, Lymphadenitis, Sepsis, Bloody diar... |
ORPHA:707 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Protruding ear, Vomiting, High palate, Otitis media, Juvenile cat... |
OMIM:619475 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Polyhydramnios, Micrognathia, Bilateral ptosis, Synophrys, Wide nasal br... |
OMIM:620351 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuo... |
OMIM:175780 |
Kindler Epidermolysis Bullosa |
|
Laryngeal stenosis, Corneal opacity, Recurrent skin infections, Abnormal dental enamel morphology... |
ORPHA:2908 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Tinnitus, Nausea |
ORPHA:231625 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Epicanthus, Posteriorly rotated ears, Carious teeth, Recurrent pneumonia... |
OMIM:608233 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Edema, Vasculitis, Cranio... |
ORPHA:324964 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,... |
OMIM:619472 |
7Q11.23 Microduplication Syndrome |
|
Micrognathia, Abnormal optic disc morphology, High palate, Chronic otitis media, Low-set, posteri... |
ORPHA:96121 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent... |
ORPHA:103910 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Laryngeal atresia, ... |
OMIM:314390 |
Immunodeficiency 70 |
|
Celiac disease, Retinal vasculitis, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Protein-losing enteropathy, Increased CSF alanine concentration... |
OMIM:619063 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Pedal edema, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Meningitis... |
ORPHA:449395 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... |
ORPHA:99921 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Low-set ea... |
ORPHA:8 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pericardial effusion, Dyspnea, A... |
ORPHA:464329 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Coccidioidomycosis |
|
Respiratory distress, Cough, Morbilliform rash, Vasculitis, Vasospasm, Hypoglycorrhachia, Abnorma... |
ORPHA:228123 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Dila... |
OMIM:619573 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, High palate, Conductive hearing impairment, Iris... |
OMIM:102500 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Hypertension |
OMIM:615862 |
Wilson Disease |
|
Acute hepatic failure, Failure to thrive, Abnormality of the menstrual cycle, Hepatitis, Increase... |
ORPHA:905 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Diarrhea, Hepatitis, Sepsis, Chronic hepatitis, Hypoxemia, Sclerosing cholangi... |
OMIM:308230 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Bulbous nose, Convex nasal ridge, Recurrent viral infections |
ORPHA:169079 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... |
ORPHA:79259 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Menorr... |
ORPHA:168816 |
Cockayne Syndrome Type 3 |
|
Microcornea, Lentiglobus, Gastroesophageal reflux, Adult onset sensorineural hearing impairment, ... |
ORPHA:90324 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Abnormal cerebral vascular morphology, Pulmonary ... |
ORPHA:3205 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Juvenile Huntington Disease |
|
Irritability, Weight loss, Ventriculomegaly, Depression |
ORPHA:248111 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteomyelitis, Facial palsy, Carious teeth, Hydrocephalus, Optic atrophy, Faci... |
OMIM:259700 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sen... |
OMIM:148210 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu... |
OMIM:311200 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278720 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... |
ORPHA:330001 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic otiti... |
ORPHA:581 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Trac... |
OMIM:300514 |
Thalidomide Embryopathy |
|
Anotia, Chronic rhinitis, Hearing impairment |
ORPHA:3312 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Eczema, Cough, Diarrhea, Coccid... |
OMIM:614162 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating... |
ORPHA:90793 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea,... |
ORPHA:1806 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Development... |
OMIM:171300 |
Tetrasomy 15Q26 |
|
Microretrognathia, Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, ... |
OMIM:614846 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Anteverted nares, Patent ductus arteriosus... |
ORPHA:1842 |
Mend Syndrome |
|
Telecanthus, Cataract, Failure to thrive, Prominent nasal bridge, Abnormal auditory evoked potent... |
ORPHA:401973 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Invasive parasitic infection, Gastroparesis, Abnormal libido, Subarachno... |
ORPHA:139417 |
Lateral Meningocele Syndrome |
|
Telecanthus, Posteriorly rotated ears, Micrognathia, Abnormality of the middle ear ossicles, Cryp... |
OMIM:130720 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal cerebrospinal fluid morphology, Heart block, Ventricul... |
ORPHA:797 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
Erythrokeratodermia Variabilis |
|
Cataract, Skin rash, Corneal opacity, Protruding ear, Weight loss, Abnormal testis morphology, He... |
ORPHA:317 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Dyspnea, Peritonitis, Ileus, Abdominal distention, Pedal edema, Weight loss, Ascites |
ORPHA:168811 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Bloody diarrhea, Chilblains, Pericardial effusion, Vasculitis, Hepatit... |
OMIM:615846 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Tene... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Tene... |
ORPHA:100082 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Ascites |
ORPHA:284227 |
Distal Triplication 15Q |
|
Telecanthus, Corneal dystrophy, Micrognathia, Large for gestational age, Patent ductus arteriosus... |
ORPHA:314588 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hyd... |
OMIM:619895 |
Hurler Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Corneal opacity, Anteverted nares, Depres... |
OMIM:607014 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hydroc... |
OMIM:101600 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Fryns-Smeets-Thiry Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Cachexia, Micrognathia |
ORPHA:2058 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary... |
OMIM:613193 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, High, narrow palate, Hydrocephalus |
ORPHA:2181 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, CSF pleocytosis, Severe viral infection, Hep... |
ORPHA:319251 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal ... |
ORPHA:1865 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Colpocephaly, Astigmatism, Decreased body weight, Conductive hearing impa... |
OMIM:609053 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, P... |
ORPHA:85202 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A... |
OMIM:276950 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Anteverted nares, Depressed nasal bridge, Sparse eyebrow, Opt... |
ORPHA:495875 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Feeding difficulties, Hypertension, Vomiting, Failure to thrive, Ventriculomegaly,... |
ORPHA:2169 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Agenesis of corpus ... |
ORPHA:2556 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Sclerocornea, Cryptorchidism, Hydrocephalus, Hypoplasia of ... |
OMIM:613001 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Depressed nasal bridge, Palpebral edema, Edema, Polyhydramnios,... |
OMIM:265300 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Micrognathia, Lymphedema, High, narrow palate, Delayed early-childhood soc... |
ORPHA:881 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Leukemia, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Ups... |
OMIM:264480 |
Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipation, Abnormal ... |
ORPHA:85447 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Tricu... |
ORPHA:100075 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Carotid artery stenosis, Micrognathia, Pericardial effusion, Bilateral ptosis, Macrot... |
ORPHA:536532 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Abdominal distention, Patent ductus arteriosus, Diarrhea, Cryptorchidism, Ascites, Vomitin... |
OMIM:608104 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Malar flattening, Dyspnea, Bulbous nos... |
ORPHA:261279 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Prolonged G2 phase of cell cycl... |
OMIM:227646 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,... |
ORPHA:508533 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Sinusitis, Micrognathia, Hydrocephalus, Protruding ear, Mitral regurgitation, Abnorma... |
ORPHA:363700 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Facial edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnor... |
ORPHA:79078 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymphangiectasis, Abdominal di... |
OMIM:235255 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Abnormal libido, Pancreatoblastoma, Pituitary cor... |
ORPHA:99889 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Depression, Abnormality of the sense of smell, Irritability, Weight lo... |
ORPHA:399 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal... |
ORPHA:1860 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Cataract, Corneal opacity, Optic nerve hypoplasia, Mic... |
OMIM:236670 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Cardio... |
ORPHA:79327 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy, Agenesis of corpu... |
OMIM:214150 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism |
OMIM:601794 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia,... |
OMIM:182212 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Lymphedema,... |
ORPHA:2176 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Small earlobe, Agenesis of corpus callosum, Dandy-Walker malformation, Absent eyebr... |
OMIM:264090 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, Periodontitis, Iris coloboma, Anteverted nares, ... |
ORPHA:955 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Nonproductive cough, Xerostomia, Tubulointerstitial nephritis... |
ORPHA:289390 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Pyloric ste... |
OMIM:615577 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Meningitis, ... |
ORPHA:1546 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Mohr Syndrome |
|
Telecanthus, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Micrognathia, Hydrocephalu... |
OMIM:252100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Reduced force... |
OMIM:613686 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Anteverted ... |
OMIM:101800 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive |
OMIM:615863 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Cataract, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Myelome... |
ORPHA:90652 |
Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Corneal opacity, Hearing impairment, Hydrocephalus, Recurrent upper respiratory tract... |
OMIM:253220 |
Neurooculorenal Syndrome |
|
Subglottic stenosis, Iris atrophy, Mixed hearing impairment, Intestinal malrotation, Highly arche... |
OMIM:620305 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Recurrent pneumonia, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunc... |
OMIM:617718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Respiratory insuff... |
OMIM:253800 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Abdominal pain, Myocarditis, Diarrhea, Cardiorespiratory arrest, W... |
ORPHA:188 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Hearing impairment... |
ORPHA:2907 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Spina bifida, Facial edema, Synophrys, Sensorineural heari... |
ORPHA:3219 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Cr... |
ORPHA:90362 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100080 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Wide nose, Abnormal eyelash morpholog... |
ORPHA:2399 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Recurrent bacterial skin infections, Erythrodontia, Nonimmune hydrops fetalis,... |
ORPHA:95159 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Tricuspid regurgitation, Corneal opacity, Pneumonia, Depressed nasal b... |
OMIM:253200 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Prominent nasal bridge, Micrognathia, External ear malformation, Cryptorchidism, Pate... |
ORPHA:251071 |
Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nas... |
OMIM:142946 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Heart block, High, narrow palate, Hydrocephalus, Feeding difficult... |
ORPHA:228308 |
Pettigrew Syndrome |
|
Mandibular prognathia, Prominent nose, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing ... |
OMIM:304340 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiec... |
OMIM:616005 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Aymé-Gripp Syndrome |
|
Shallow orbits, Megalocornea, Depressed nasal bridge, Pericardial effusion, Cryptorchidism, Paten... |
ORPHA:1272 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Recurrent bacterial infections, Subcutaneous hemorrhage, Pulmonary hemorrhage |
OMIM:603585 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Vascular ring, Mitral regurgitation, Long palpebral fissure, Ventriculomegaly, Ptosis |
OMIM:603387 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Portal ... |
ORPHA:1454 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, Gastroesophageal reflux, High palate, Simple ear, Anteve... |
OMIM:619325 |
Familial Thyroid Dyshormonogenesis |
|
Depressed nasal bridge, Feeding difficulties in infancy, Facial edema, Sensorineural hearing impa... |
ORPHA:95716 |
Kabuki Syndrome |
|
Protruding ear, Microcornea, High palate, Conductive hearing impairment, Highly arched eyebrow, C... |
ORPHA:2322 |
Seckel Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Micrognathia, Absent earlobe, Abnormal earlobe morph... |
ORPHA:808 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Neuraminidase Deficiency |
|
Cataract, Bone-marrow foam cells, Facial edema, Sensorineural hearing impairment, Hydrops fetalis... |
OMIM:256550 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C... |
ORPHA:309031 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Melena, Paralytic ileus, Pro... |
OMIM:276700 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca |
OMIM:619016 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of tongue, A... |
OMIM:269860 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, T... |
ORPHA:2437 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Abnormal nasal morphology, Cryptorchidism, Wide nasal b... |
ORPHA:404440 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Diss... |
OMIM:300636 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Abdominal pain, Congestiv... |
ORPHA:465508 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Tricuspi... |
ORPHA:261337 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment |
OMIM:610738 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Malar flattening, Ptosis |
ORPHA:53271 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Exocrine pancreatic insufficiency, Hepatitis, Chronic mucocutaneous c... |
OMIM:269200 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, Choanal stenosis, High palate, Neonatal deat... |
OMIM:259775 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... |
OMIM:261740 |
Chikungunya |
|
Abnormal bleeding, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud pheno... |
ORPHA:324625 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Corneal opacity, Hearing impairment, External ear malformation, Cryptorchidism,... |
ORPHA:1647 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He... |
ORPHA:227990 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus, Vomiting, Nausea |
OMIM:260500 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Episodic abdominal pain, Tubulointerstitial nephrit... |
ORPHA:157 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age, Protuberant abdomen |
OMIM:613330 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Iris colobo... |
OMIM:249000 |
Abetalipoproteinemia |
|
Abnormal bleeding, Failure to thrive, Congestive heart failure, Chronic diarrhea, Keratoconjuncti... |
ORPHA:14 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Malformed lacrimal duct, Laryngeal atres... |
OMIM:219000 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Low-frequency sensorineural hearing impairment, Col... |
OMIM:613101 |
Achondroplasia |
|
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Obesity, Hypoxemia, Restrictive ventilat... |
ORPHA:15 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy |
ORPHA:254881 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Recurrent bacterial skin infections, Recurrent respiratory infections, Skin ra... |
ORPHA:167 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Hypospadias, Myelodysplasia, Phimo... |
OMIM:305000 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Cranial nerve compression, Odynophagia, Jaw claudication, Malnutrition... |
ORPHA:221098 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Neoplasm of the gallbladder, Adenocarcinoma of... |
ORPHA:171 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Nonproducti... |
ORPHA:723 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Facial diplegia, Hypertrophic cardiomyopathy, Bifid uvula, Ventriculomegal... |
OMIM:619121 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Weight loss, Depression, Failure to thrive |
ORPHA:178029 |
Rat-Bite Fever |
|
Pharyngitis, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, P... |
ORPHA:31205 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Gast... |
OMIM:612289 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Nausea and vomiting, Epicanthus, Apnea, Malabsorption, Decreased nerve conduction ve... |
ORPHA:285 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He... |
ORPHA:227982 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Single naris, Microcornea, Abnormality of the maxilla... |
ORPHA:141099 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia, Neurodegeneration |
ORPHA:803 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Dyspnea, Congestive heart failure, Diarrhea, Gastrointest... |
ORPHA:67 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Epicanthus, Ectopia lentis, Osteoarthritis, Aortic root aneurysm, Recurrent sinusitis, Recurrent ... |
OMIM:130000 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Poor appetite, Nonproduc... |
ORPHA:97287 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absent lower eyel... |
OMIM:154400 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy |
OMIM:256600 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Weig... |
ORPHA:767 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Acne, Irregular menstruation, Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Achondroplasia |
|
Respiratory distress, Depressed nasal bridge, Polyhydramnios, Conductive hearing impairment, Hydr... |
OMIM:100800 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Anteverted nares, Spontaneous pneumothorax, Polyhydramnios, Lymphedema, Synophrys, Feeding diffic... |
OMIM:618154 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Cleft palate, Low-set ears, Downs... |
ORPHA:2075 |
Hemangioblastoma |
|
Nausea and vomiting, Retinal capillary hemangioma, Hydrocephalus, Hypoactive bowel sounds |
ORPHA:252054 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Microcornea, High palate, Anteverted nares, Depressed nasal b... |
ORPHA:536467 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cataract, Depression, Hematochezia, Stroke-like episode, Hypogonadism |
ORPHA:79095 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Cataract, Feeding difficulties, Weight loss |
ORPHA:79238 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Sensorineural... |
ORPHA:585 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Hepatic failure, Obesity, Ventriculomegaly |
OMIM:615630 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Hydrocephalus, Depressed nasal ridge, Low-set ears, Short nose |
ORPHA:163966 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
Mend Syndrome |
|
Microretrognathia, Failure to thrive, Cataract, Posteriorly rotated ears, Prominent nasal bridge,... |
OMIM:300960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Cataract, Optic nerve hypoplasia, Partial agenesis of the corpus... |
OMIM:614643 |
Marburg Hemorrhagic Fever |
|
Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Dehydration, Vomiting, Conj... |
ORPHA:99826 |
Fraser Syndrome 3 |
|
Wide nose, Convex nasal ridge, Nonimmune hydrops fetalis, Micrognathia, Hydrocephalus, Oligohydra... |
OMIM:617667 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Abdominal pain, Ascites, Malabsorption |
ORPHA:100025 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Epicanthus, Intestinal malrotation, Micrognathia, Hydrocephalus, Choroid plexus cyst, Ventriculom... |
OMIM:617866 |
Angioedema, Hereditary, 3 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic upper airway obstruction, ... |
OMIM:610618 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Aase-Smith Syndrome I |
|
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Dandy-Walker malformation, Ptosis |
OMIM:147800 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Hydrocephalus, Depressed nasal ridge, Short nose |
OMIM:300863 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... |
ORPHA:90796 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Upper eyelid entropion, Facial hypotonia, Hydrocephalus... |
ORPHA:457284 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... |
ORPHA:398063 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Short Syndrome |
|
Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Poor appetite, Abnormal zygomati... |
ORPHA:3163 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Recurrent abscess formation, Intractable diarrhea, ... |
OMIM:619381 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... |
ORPHA:157794 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anteverted nares, Cachexia, Anorexia, Midline defect of the nose, Short hard palate, Ptosis |
ORPHA:1969 |
Cowden Syndrome 6 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... |
OMIM:615109 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea, Feeding difficulties in infancy, Hydrocephalus, Optic atrophy, Stroke, Failure to thrive, ... |
ORPHA:395 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Wide nasal bridge, H... |
OMIM:104350 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Villous atrophy, Edema, Diarrhea, Hepatic failure, Vomiting, Protein-losing en... |
OMIM:602579 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Agenesis of corpus callosum, Neuronal loss in central nervous system, Neurode... |
OMIM:616239 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Dyspnea, Weight loss, Cough, Abnormal vena cava morphology |
ORPHA:99868 |
Dpagt1-Cdg |
|
Prolonged QT interval, Optic atrophy, Developmental cataract, Intracranial hemorrhage, Stroke-lik... |
ORPHA:86309 |
Yunis-Varon Syndrome |
|
Sclerocornea, Micrognathia, Polyhydramnios, High, narrow palate, Hydrops fetalis, Glossoptosis, A... |
ORPHA:3472 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Wide nose, Anal stenosis, Prominent nasal bridge, Polyhydramnios, Prom... |
OMIM:606170 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Facial palsy, Cachexia, Anorexia, Carious teeth, Feeding difficulties ... |
ORPHA:1328 |
Hardikar Syndrome |
|
Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Patent ductus arte... |
OMIM:301068 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Epicanthus, Sensorineural hearing impairment, Depressed nasal ridge, Macro... |
OMIM:248500 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Patent ductus arteriosus, Abnormal thal... |
ORPHA:435638 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... |
ORPHA:649 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon |
ORPHA:2720 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio... |
OMIM:214950 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Abnormal pinna morphology, Eczema, Absent eyelashes, Cleft palate, Conjunctival h... |
ORPHA:2890 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Marden-Walker Syndrome |
|
Failure to thrive, Posteriorly rotated ears, Micrognathia, Pyloric stenosis, Hydrocephalus, Submu... |
ORPHA:2461 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Polyhydramnios |
OMIM:616873 |
Q Fever |
|
Respiratory distress, Anorexia, Abnormal left ventricular function, Cholecystitis, Cough, Meningi... |
ORPHA:781 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Sensorineural hearing impairment, Recurrent bacterial infections, Eczemato... |
OMIM:619693 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hydrocephalus, High palate, Downslanted palpebral fissures, Dentinogenesis imp... |
OMIM:616294 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Recurrent bacterial skin infections, Erythrodontia, Nonimmune hydrops fetalis,... |
ORPHA:79277 |
Huntington Disease-Like 2 |
|
Irritability, Weight loss, Depression |
OMIM:606438 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Depressed nasal bridge, Episodic ... |
OMIM:608091 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Hypoplasia of the m... |
OMIM:610829 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydr... |
ORPHA:3412 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Lymphedema, Thick nasal alae, Anteverted nares, Depres... |
ORPHA:744 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Micrognathia, Hydrocephalus, Optic atrophy, Irritability, Respir... |
OMIM:259720 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Depressed nasal ridge, Conductive hearing impairment... |
ORPHA:99843 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma |
ORPHA:96123 |
Chronic Beryllium Disease |
|
Pharyngitis, Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testi... |
ORPHA:133 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Polyhydramnios, Hydrocephalus, Protuberant abdomen, Neonatal death |
OMIM:187600 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Skin rash, Telangiectasia of the skin, Abnormal dent... |
ORPHA:2909 |
Immunodeficiency 13 |
|
Nasal polyposis, Recurrent shingles, Recurrent pneumonia, Recurrent upper respiratory tract infec... |
OMIM:615518 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Conotruncal defect, Microtia, Anotia |
OMIM:243440 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Cough, Weight loss, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Conical incisor, Periorbital fullness, Conjunctivitis, Corne... |
OMIM:149730 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Monosomy 22Q13.3 |
|
Nausea and vomiting, Epicanthus, Recurrent skin infections, Palpebral edema, Hearing impairment, ... |
ORPHA:48652 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79409 |
Arachnoiditis |
|
Hydrocephalus, Meningitis, Tinnitus, Hearing impairment |
ORPHA:137817 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Long ear, Short pa... |
OMIM:619714 |
Costello Syndrome |
|
Polyhydramnios, Micrognathia, High palate, Lymphangiectasis, Anteverted nares, Depressed nasal br... |
OMIM:218040 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy, Failure to thrive,... |
ORPHA:95428 |
Tetrasomy 9P |
|
Myositis, Micrognathia, Inappropriate behavior, High palate, Bifid uvula, Dandy-Walker malformati... |
ORPHA:3310 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Adult Syndrome |
|
Conjunctivitis, Eczema, Nasolacrimal duct obstruction |
OMIM:103285 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hydrocephalus, Hypoplasia of the ... |
OMIM:614195 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot... |
ORPHA:2166 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... |
ORPHA:91348 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Spina bifida, Micrognathia, Hydrocephalus, Cleft palate, Microcornea, ... |
ORPHA:2839 |
Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Meningitis, Weight loss |
ORPHA:545 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Congestive heart failure, Emphysema, Intracranial hemorrhage, H... |
ORPHA:363618 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Hydrocephalus, Cleft palate, Macroglossia, Persistent pupillary membrane... |
OMIM:613150 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Ocular albinism, Hematochezia, Cardiomyopathy... |
OMIM:203300 |
Oculoskeletodental Syndrome |
|
Epicanthus, Small for gestational age, Cryptorchidism, Wide nasal bridge, Developmental cataract,... |
OMIM:618440 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Broad nasal tip, Micrognathia, Pancreatic lymphangiectasis, Abdominal distention,... |
ORPHA:1655 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Feeding difficulties in infancy, Synophrys, Large fleshy ears, Gastroesophageal reflux, High pala... |
ORPHA:280633 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal nasolacrimal system morphology, Facial palsy, Choanal atresia, Ab... |
ORPHA:2658 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Gastroesophageal reflux, Conductive hearing impairment, Agenesis of corpus callosum... |
OMIM:194190 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, T2 hypointense thalamus |
ORPHA:1947 |
Huntington Disease-Like 1 |
|
Weight loss, Ventriculomegaly, Depression |
ORPHA:157941 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:615157 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Tracheoesophageal fistula, De... |
OMIM:614083 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Small cell lung carcinoma, Cryptorch... |
ORPHA:821 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Erythema nodosum, Raynaud phenomenon, Lip telangiectasia, Palmar tel... |
OMIM:613471 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Lens luxation, Ectopia lentis, Micrognathia, Hydrocephalus, Cleft palate, Shallow ... |
OMIM:224400 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy |
ORPHA:391428 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... |
ORPHA:3208 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... |
ORPHA:263665 |
Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Small for gestational age, Posteriorly rotated ears, Polyhydramnios, Micrognathia, N... |
OMIM:208150 |
Perry Syndrome |
|
Weight loss, Central hypoventilation, Hypotension, Depression |
ORPHA:178509 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory t... |
OMIM:618183 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infec... |
OMIM:210900 |
Glycogen Storage Disease Ib |
|
Gout, Xanthelasma, Inflammation of the large intestine, Hypertension, Recurrent bacterial infecti... |
OMIM:232220 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Dysphagia, Wei... |
ORPHA:142 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Conjunctival hamartoma, Poor appetite, Erythroderma |
ORPHA:312 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Poor appetite, Abnormal eyelid morphology, Chronic diarrhea, Weight ... |
ORPHA:2221 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Dyspnea, Diarrhea, Abdominal distention, Heart murmur, Weigh... |
ORPHA:100085 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Erythrodontia, Loss of eyelashes, Corneal scarring, Increased fecal coproporphyri... |
OMIM:263700 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Narrow nasal tip, Sparse eyebrow, Bilateral ptosis, Synophrys, Cryptorchidism, ... |
ORPHA:477993 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Polyhydramnios, Micrognathia, Depressed nasal ridge, High palate, Co... |
OMIM:114290 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Loss of facial adipose tissue, Cryptorchidism, Hypoplasia ... |
OMIM:216400 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
Dextrocardia |
|
Abnormal EKG, Intestinal malrotation, Hydrocephalus, T-wave inversion, Congenital malformation of... |
ORPHA:1666 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Cataract, Large for gestational age, Hydrocephalus, Thicke... |
ORPHA:77301 |
Classic Hodgkin Lymphoma |
|
Skin rash, Anorexia, Poor appetite, Respiratory insufficiency, Weight loss, Cough |
ORPHA:391 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatic failure, Hepatitis, Hematochezia, Prolonged prothrombin time, Acholic stools, S... |
OMIM:613812 |
Ileal Neuroendocrine Tumor |
|
Edema, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction,... |
ORPHA:100078 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Minimal change glomerulonephritis, Dyspnea, Abdominal... |
ORPHA:567546 |
Gaucher Disease |
|
Abnormal bleeding, Osteomyelitis, Corneal opacity, Abdominal pain, Feeding difficulties in infanc... |
ORPHA:355 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Depressed nasal bridge, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Overweight, Feedin... |
ORPHA:226307 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Abdominal diste... |
OMIM:617300 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Recurrent bacterial infections, Recurrent infections, Amelogenesis imperf... |
OMIM:612783 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Premature ovarian insufficiency, Small for gestational age, Abnormal d... |
ORPHA:221008 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Bowel incontinence |
OMIM:236690 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme... |
ORPHA:480520 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Anteverted nares, Posteriorly rotated ears, Synophrys, Protruding ear... |
OMIM:618479 |
Leptospirosis |
|
Respiratory distress, First degree atrioventricular block, Anorexia, Uveitis, Cough, Conjunctival... |
ORPHA:509 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Slender nose, Small for gestational age, Abnormal dental enamel morpho... |
ORPHA:221016 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Polyhydramnios, Aqueductal stenosis, Dextrotransposition of the great arter... |
OMIM:306955 |
Tarp Syndrome |
|
Apnea, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Anteverted n... |
ORPHA:2886 |
Pallister-Hall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Decreased response to growth hormone s... |
OMIM:146510 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Synophrys, Hi... |
OMIM:213980 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Anteriorly placed anus, Choanal stenosis, Gastroesophageal reflux, Conductiv... |
ORPHA:95699 |
Baller-Gerold Syndrome |
|
Micrognathia, Anteriorly placed anus, Choanal stenosis, High palate, Conductive hearing impairmen... |
OMIM:218600 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamar... |
OMIM:175200 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss |
ORPHA:703 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Micrognathia, Neonatal death, Neonatal respiratory distress, Nonimmune hydrops fe... |
OMIM:265380 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Failure to thrive in infancy, Poor appe... |
ORPHA:247598 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Hydrocephalus, Upper airway o... |
OMIM:207410 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes, Recurrent infections |
OMIM:258360 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Mandibular prognathia, Duodenal polyposis, Hepatoblastoma, Broad nasal tip, Micrognathia, Adenoma... |
ORPHA:261584 |
Thymoma |
|
Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Obstruction of the superi... |
ORPHA:99867 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Spontaneous, recurrent epistaxis, Recurrent systemic pyogeni... |
OMIM:214500 |
Knobloch Syndrome |
|
Occipital encephalocele, Epicanthus, Cataract, Depressed nasal bridge, Ectopia lentis, Pyloric st... |
ORPHA:1571 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothalamic hamartoma |
OMIM:619908 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Partial agenesis of the corpus callosum, Polyhydramnios |
ORPHA:86822 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depressed nasal bridge, Feeding difficulties in infancy, Facial edema, Depression, Macroglossia, ... |
ORPHA:90674 |
Cousin Syndrome |
|
Hydranencephaly, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Cleft palate, Microcornea... |
OMIM:260660 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Depressed nasal bridge, Hypoplasi... |
ORPHA:1106 |
Cockayne Syndrome B |
|
Mandibular prognathia, Microcornea, Hypoplasia of the iris, Loss of facial adipose tissue, Crypto... |
OMIM:133540 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Depressed nasal bridge, Micrognathia, Prominent antitragus, Hydrocephalus, Cle... |
OMIM:245600 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Protruding ear, Microcornea, High palate, Ecchymosis, Microretrognathia, Tricuspid regurgitation,... |
OMIM:601776 |
Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Prominent nose, Lymphedema, Intracranial hemorrhage,... |
ORPHA:79318 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci... |
OMIM:609192 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Cataract, Gastroparesis, Intestinal pseudo-obstruction, Weakness of facial musculature, Sensorine... |
OMIM:607459 |
Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Prominent nose, Abnormality of the nose, Hydrocephalus, Cryptorchidism... |
ORPHA:2378 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic an... |
OMIM:613795 |
Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... |
ORPHA:63259 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Dandy-Walker malformation |
OMIM:611134 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest t... |
ORPHA:361 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... |
OMIM:614172 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal bleeding, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Generalized ... |
OMIM:207731 |
Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Hypoplasia of the antihelix, Prominent nasal bridg... |
ORPHA:221120 |
Caroli Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Anorexia, Abdominal pain, Conjunctival icte... |
ORPHA:53035 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipa... |
ORPHA:35858 |
Nelson Syndrome |
|
Testicular neoplasm, Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus, Op... |
ORPHA:199244 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Nausea and vomiting, Metrorrhagia, Anorexia, Abdominal distention, Episodic ab... |
ORPHA:370348 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hypomagnesemia, M... |
ORPHA:699 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Polyhydramnios, Hepatoblastoma, Posterior helix pit, Agenesis of corpus ca... |
OMIM:312870 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormal thalamic MRI sign... |
ORPHA:485421 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:607361 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios |
ORPHA:3016 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Agenesis of corpus callosum, Loss of facial adipose tissue, Anteverted nares, Hypogona... |
ORPHA:3455 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Epicanthus, Abnormal at... |
ORPHA:576 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Micrognathia, High, narrow palate, Lop ear, Cleft palate, Abnormal col... |
ORPHA:436003 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Hydrocephalus, Polyhydramnios, Ventriculomegaly |
OMIM:219730 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Depression, Weight loss, Ina... |
OMIM:168605 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Facial palsy, Hypercapnia, Reduced forced v... |
OMIM:164310 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops ... |
OMIM:616546 |
Peters Plus Syndrome |
|
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Microcornea, Abnormal pulmonary ve... |
ORPHA:709 |
Rheumatoid Arthritis |
|
Joint swelling, Vasculitis, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Abdominal pain, Vulval varicose ... |
ORPHA:71273 |
6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Highly arched eyebrow, Micrognathia, High, narrow palate, Obes... |
ORPHA:75857 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... |
OMIM:129900 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Recurrent infections, Wei... |
ORPHA:704 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... |
ORPHA:329971 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Irritability, Weight loss |
OMIM:275000 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Dehydration, Weight loss |
OMIM:143880 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pituitary hy... |
OMIM:206900 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Retinal cavernous angioma, Episodic vomiting, Cerebral hemorrhage |
ORPHA:221061 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Cataract, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Orbit... |
OMIM:109400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... |
OMIM:613960 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Meckel Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Cataract, Aplasia/Hypoplasia of the tongue, Scl... |
ORPHA:564 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Bifid uvula, Eosinop... |
OMIM:610168 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Hypoplasia of eyelid, Optic nerve hypoplasia, Cleft soft palate, Intes... |
OMIM:619321 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Hydrocephalus, Periodontitis, Dandy-Walker malformation |
ORPHA:722 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus... |
ORPHA:2020 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... |
ORPHA:90060 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Anteriorly placed anus, Spina bifida occulta, Agenesis of corpus callosum, Iris c... |
OMIM:305600 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Edema, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality o... |
ORPHA:33577 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Anorexia, Pericardial effusion, Iridocyclitis, Dyspnea, Enlarged lacrimal gland... |
OMIM:181000 |
Lysinuric Protein Intolerance |
|
Abnormal bleeding, Glomerulonephritis, Diarrhea, Hepatic failure, Respiratory insufficiency, Feed... |
ORPHA:470 |
Congenital Analbuminemia |
|
Small for gestational age, Edema, Facial edema, Obesity, Pedal edema, Low pulse pressure, Recurre... |
ORPHA:86816 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Optic atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Supernumerary Nostril |
|
Choanal atresia, Developmental cataract, Microcornea, Supernumerary naris, Abnormality of ethmoid... |
ORPHA:141096 |
Orofaciodigital Syndrome Vi |
|
Broad nasal tip, Hypothalamic hamartoma, Occipital meningocele, Periventricular nodular heterotop... |
OMIM:277170 |
Hereditary Late-Onset Parkinson Disease |
|
Depression, Weight loss, Chronic constipation, Low frustration tolerance, Dysphagia, Hyposmia, Or... |
ORPHA:411602 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Cataract, Ventriculomegaly, Respiratory failure |
OMIM:616538 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Lymphadenitis, Severe varicella zoster infection, Recurrent pne... |
OMIM:618986 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Cornelia De Lange Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Synophrys, Microcornea, Gastroesophageal reflux, H... |
ORPHA:199 |
Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Yellow Fever |
|
Abnormal bleeding, Shock, Acute pancreatitis, Skin rash, Supraventricular arrhythmia, Nausea, Exc... |
ORPHA:99829 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Anal atresia |
OMIM:617244 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Constipation, Rec... |
OMIM:600145 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Premature ovarian insufficiency, Abnormal thalamus morphology, Hypergonadotropic hypogonadism |
ORPHA:2959 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Raynaud phenomenon, Restrictive ventilatory defect, ... |
OMIM:607944 |
Tsh-Secreting Pituitary Adenoma |
|
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreased ferti... |
ORPHA:91347 |
Sickle Cell Disease |
|
Abdominal pain, Hypoxemia, Hypertension, Recurrent bacterial infections, Stroke, Priapism |
OMIM:603903 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Orthostatic hypotension, Decreased female libido, Myocardial infarction, Ano... |
ORPHA:95409 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Recurrent bacterial infections, Calvarial osteosclerosis |
OMIM:244460 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent pneumonia, ... |
ORPHA:293978 |
Adrenoleukodystrophy |
|
Neurodegeneration, Primary adrenal insufficiency |
OMIM:300100 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Abdominal pain, Con... |
ORPHA:35687 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Retinal hamartoma, Myelopathy, Posterior subcapsul... |
ORPHA:637 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Fusion of the left and right thalami, Wide nasal bridge, Depressed nasa... |
OMIM:619306 |
Peters-Plus Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Protrud... |
OMIM:261540 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... |
OMIM:263200 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Small for gestational ... |
OMIM:107480 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterior horn motor neurons, ... |
ORPHA:79139 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Entropion, Telangiectasia of th... |
ORPHA:910 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,... |
ORPHA:60025 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Immunodeficiency 47 |
|
Tricuspid regurgitation, Sensorineural hearing impairment, Chronic diarrhea, Recurrent infections... |
OMIM:300972 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Rectal prolapse, Volvulus, Intussusception |
OMIM:112200 |
Limb Body Wall Complex |
|
Encephalocele, Corneal opacity, Depressed nasal bridge, Spina bifida, Choanal atresia, Myelomenin... |
ORPHA:2369 |
Addison Disease |
|
Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency, Primary testicular... |
ORPHA:85138 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Sepsis, Weight loss, Recur... |
ORPHA:764 |
Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Polyhydramnios, Micrognathia, Laryngeal hypoplasia, Anencephaly, Cleft... |
OMIM:236680 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Fatal Familial Insomnia |
|
Apnea, Weight loss, Constipation, Abnormal autonomic nervous system physiology, Dysphagia |
OMIM:600072 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Micrognathia, Sepsis, Abnormal left ventricular function, Vomiting, Protein-lo... |
OMIM:619991 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Onychomycosis, Blepharitis |
OMIM:615527 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Respiratory insufficiency due to muscle weakness, P... |
ORPHA:97282 |
Orofaciodigital Syndrome Type 6 |
|
Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Abnormality of neuronal migrat... |
ORPHA:2754 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impa... |
OMIM:164210 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Pulmonary artery stenosis, Recurrent pneumoni... |
OMIM:615067 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
Nephroblastoma |
|
Abdominal pain, Weight loss, Hypertension, Neoplasm of the liver, Aniridia |
ORPHA:654 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal salivary gland morphology |
ORPHA:31 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Hearing imp... |
ORPHA:512 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Horner syndrome, Weight loss, Hypertension, Failure to thrive |
OMIM:256700 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Cleft palate, Tetralogy of Fallot |
ORPHA:1335 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Dehydration, Weight loss,... |
ORPHA:35710 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Cho... |
ORPHA:100086 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis, Abnormality of the ovary |
OMIM:209900 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Feeding difficulties in infancy, Hydrocephalus, Macrotia, Low-set ears, Failure to thrive |
OMIM:277400 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Bronchiec... |
OMIM:619466 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Intestinal bleeding, Gastrointestinal telangiectasia, Oral... |
OMIM:612199 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, S... |
ORPHA:85408 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529808 |
Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Bruising susceptibility, Corneal scarring, Feeding difficulties, Recurr... |
ORPHA:642 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Eyelid coloboma, High palate, Shallow orbits, Midface capillary hem... |
OMIM:268300 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema, Panniculitis |
OMIM:618398 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Palpebral edema, Anorexia, Pustule, Myocard... |
ORPHA:50918 |
Tetraamelia Syndrome 1 |
|
Cataract, Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Low-set ears,... |
OMIM:273395 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Retrognathia, Bifid uvula |
ORPHA:2736 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia |
ORPHA:240071 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurodegeneration |
OMIM:614298 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Mitral stenosis, Calcification of the aorta, Opacification of the corneal stroma |
OMIM:231005 |
Tay-Sachs Disease |
|
Optic atrophy, Abnormal thalamic MRI signal intensity, Ventriculomegaly |
ORPHA:845 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... |
OMIM:604292 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Papilledema, Anorexia, Abdominal... |
ORPHA:91500 |
Isolated Posterior Meningocele |
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Bowel incontinence, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromy... |
ORPHA:268810 |
Goodpasture Syndrome |
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Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Leigh Syndrome |
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Agenesis of corpus callosum, Optic atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Neurodegeneration, Hypothyroidism, Cerebral atrophy |
OMIM:616878 |
Malt Lymphoma |
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Nausea and vomiting, Recurrent respiratory infections, Abnormal nasolacrimal system morphology, A... |
ORPHA:52417 |
Congenital Dyserythropoietic Anemia Type Iii |
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Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
Familial Pancreatic Carcinoma |
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Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Neurodegeneration |
OMIM:606159 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Lymphedema, Severe cytomegalovirus infection, Conical incisor, Recurrent bacterial infections, Mo... |
OMIM:300291 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Shock, Acne, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Hypovolemia, Decr... |
ORPHA:90794 |
Meckel Syndrome, Type 6 |
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Occipital encephalocele, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
Neuroferritinopathy |
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T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Abnormality of the upper respiratory tract, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictiv... |
ORPHA:747 |
Sandhoff Disease, Infantile Form |
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Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Thymic Neuroendocrine Tumor |
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Prominent veins on trunk, Weight loss, Abnormal breath sound, Cough, Abnormal vena cava morphology |
ORPHA:97289 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Neurodegeneration, Cerebral atrophy |
OMIM:618321 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great ar... |
OMIM:313850 |
Digeorge Syndrome |
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Sclerocornea, Micrognathia, High, narrow palate, Gastroesophageal reflux, High palate, Bifid uvul... |
OMIM:188400 |
Otopalatodigital Syndrome, Type Ii |
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Cataract, Depressed nasal bridge, Posteriorly rotated ears, Spina bifida, Micrognathia, Conductiv... |
OMIM:304120 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Abdominal pain, Diarrhea, Weight loss, Abnormal testis morphology |
ORPHA:54251 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610217 |
Cushing Disease |
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Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
Insulin-Resistance Syndrome Type B |
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Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight, Weight l... |
ORPHA:2298 |
Medullary Thyroid Carcinoma |
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Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
Bickerstaff Brainstem Encephalitis |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ... |
ORPHA:79138 |
Pallister-Hall Syndrome |
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Hypopituitarism, Anteverted nares, Choanal atresia, Secondary growth hormone deficiency, Cryptorc... |
ORPHA:672 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Micrognathia, Hydrocephalus, Optic atrophy, Opacification of the corneal stroma, Malar ... |
OMIM:253280 |
Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Hypospadias, Cryptorchidism, Hypogonadism, Ch... |
OMIM:163950 |
Oeis Complex |
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Intestinal malrotation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, ... |
OMIM:258040 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Adenocarcinoma Of The Anal Canal |
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Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
17Q11 Microdeletion Syndrome |
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Depressed nasal bridge, Telangiectasia of the skin, Retinal vascular proliferation, Abnormal inte... |
ORPHA:97685 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Solitary Fibrous Tumor |
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Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Neurodegeneration, Hypohidrosis |
OMIM:146500 |
Parkinson Disease 4, Autosomal Dominant |
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Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Thyrotoxic Periodic Paralysis |
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Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... |
ORPHA:79102 |
Idiopathic Panuveitis |
|
Cataract, Red eye, Posterior synechiae of the anterior chamber, Conjunctival hyperemia, Cystoid m... |
ORPHA:280921 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Cataract, Calcification of the auricular cartilage, Bilateral cryptorchidism, Synophrys, Hydrocep... |
ORPHA:3042 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Tropical Pancreatitis |
|
Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea |
ORPHA:103918 |
Exstrophy-Epispadias Complex |
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Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph... |
ORPHA:322 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis |
ORPHA:158000 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Bilateral ptosis, Hypovolemia, Dehydration, Weight loss, Failure to thrive, Hearing impairment |
ORPHA:99885 |
Gerstmann-Straussler Disease |
|
Emotional lability, Weight loss, Depression |
OMIM:137440 |
Cystinosis, Nephropathic |
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Male infertility, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Corneal crystals, Dehy... |
OMIM:219800 |
Split Cord Malformation |
|
Bowel incontinence, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, H... |
ORPHA:573278 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis, Weight loss |
OMIM:613673 |
Multiple Myeloma |
|
Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Gastroesophage... |
ORPHA:64 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Cerebral degeneration, Neurodegeneration, Global brain atrophy |
OMIM:234200 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
Primrose Syndrome |
|
Neurodegeneration, Hypothyroidism |
OMIM:259050 |